• FindZebra
  • About
  • Contact
  • Help
  • Login
Advanced
  • Noonan Syndrome Wikipedia
    Genetic condition involving facial, heart, blood and skeletal features Noonan syndrome Other names Male Turner syndrome, Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndrome [1] A 12-year-old girl with Noonan syndrome. ... In Turner syndrome, there is a lower incidence of developmental delays, left-sided heart defects are constant and the occurrence of renal abnormalities is much lower. [20] Other RASopathies Watson syndrome - Watson Syndrome has a number of similar characteristics with Noonan's Syndrome such as short stature, pulmonary valve stenosis, variable intellectual development, and skin pigment changes. [20] [21] Cardiofaciocutaneous (CFC) syndrome - CFC syndrome is very similar to Noonan's Syndrome due to similar cardiac and lymphatic features. However, In CFC syndrome intellectual disability and gastrointestinal problems are often more severe and pronounced. [20] [22] Costello syndrome - Like CFC syndrome, Costello syndrome has overlapping features with Noonan's Syndrome. ... References [ edit ] ^ a b c d e f g h i j k l m "Noonan syndrome" . Genetics Home Reference . Retrieved 24 December 2018 . ^ a b c d e f g "Noonan Syndrome" . ... External links [ edit ] Classification D ICD - 10 : Q87.1 ICD - 9-CM : 759.89 OMIM : 163950 605275 609942 610733 611553 MeSH : D009634 DiseasesDB : 29094 SNOMED CT : 205824006 External resources MedlinePlus : 001656 eMedicine : article/947504 Patient UK : Noonan syndrome GeneReviews : Noonan Syndrome Orphanet : 648 Wikimedia Commons has media related to Noonan syndrome . v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins Authority control GND : 4171991-8
    PTPN11, RAF1, KRAS, SOS1, LZTR1, RIT1, SHOC2, NRAS, BRAF, MAP2K1, HRAS, MAP2K2, SOS2, RRAS2, A2ML1, MRAS, RRAS, RASA2, CBL, NF1, PPP1CB, KAT6B, EPHA2, RASA1, CENPJ, ATR, CEP63, APAF1, EPHB2, GH1, MAPK1, ZHX2, PTEN, ACP1, PTPRU, REG1A, SLC25A3, IGF1, MAPK3, CDC42, STAT5B, XYLT2, MUL1, MVD, MAP2K7, CBLL2, PRKN, CDAN1, MED18, FHL1, ELK1, DTX1, MIR195, SGSM3, SPRED1, CDC25C, AMH, SLC2A4RG, ZNF462, PTPRT, DSG4, ARAF, MTG1, MAPK7, GRIN1, ARHGEF2, MPZL1, PTPN1, PDGFRB, NOTCH1, ACVR1, RASGRF1, MYC, RNASE3, RPL6, RPS6KA3, CCL3, SHOX, IGFBP3, STAT3, STAT5A, USF1, GRIN2B, NCK2, MIR223
    • Noonan Syndrome 8 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). Clinical Features Aoki et al. (2013) reported 17 unrelated individuals with Noonan syndrome-8 who ranged in age from a few months to 15 years. ... RIT1 is one of the major genes for Noonan syndrome. The RIT1-associated phenotype differs from other Noonan syndrome subtypes, with a high prevalence of cardiovascular manifestations, especially hypertrophic cardiomyopathy, and lymphatic problems. ... All 9 of their Noonan syndrome patients with RIT1 mutations had congenital cardiac defects. ... The mutations in the first 2 patients were found by whole-exome sequencing after mutations in common Noonan syndrome genes were excluded. The mutations in the second 2 patients were found by direct sequencing of the RIT1 gene in 64 patients with Noonan syndrome. ... The RIT1 mutation rate in this study was estimated at 3.8% (4 of 106 Noonan syndrome patients). Kouz et al. (2016) sequenced RIT1 in 310 mutation-negative individuals with a suspected RASopathy and prospectively in individuals who underwent genetic testing for Noonan syndrome.
    • Noonan Syndrome 2 Omim
      Description Noonan syndrome (NS) is a multiple congenital anomalies syndrome characterized by a typical face, congenital heart disease, and short stature (summary by van der Burgt and Brunner, 2000). ... Umeki et al. (2019) reported a patient with Noonan syndrome 2. In addition to distinctive facial features suggestive of Noonan syndrome, she had hypertrophic cardiomyopathy, 5th brachymetapody, and mild intellectual disability. ... Maximilian et al. (1992) reported a family with 4 children, of whom 3, a girl and 2 boys, were thought to have Noonan syndrome. Neither parent had signs of the syndrome. ... All 4 had a typical Noonan syndrome phenotype and presented with hypertrophic obstructive cardiomyopathy at birth. ... These patients supported the existence of an autosomal recessive form of Noonan syndrome in which hypertrophic obstructive cardiomyopathy is more frequent than in autosomal dominant Noonan syndrome.
    • Noonan Syndrome Orphanet
      Epidemiology The birth prevalence of Noonan syndrome (NS) is estimated between 1:1000 to 1:2500. ... Differential diagnosis Differential diagnoses include Cardio-Facio-Cutaneous syndrome, Costello syndrome, Neurofibromatosis type 1, Noonan syndrome with multiple lentigines (all RASopathies), Baraitser-Winter, Aarskog and Escobar syndromes.
    • Noonan Syndrome Gard
      Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay. Noonan syndrome may be caused by a mutation in any of several genes , and can be classified into subtypes based on the responsible gene. ... Treatment depends on the symptoms present in each person. Noonan syndrome belongs to a group of related conditions called the RASopathies . ... Other conditions in this group include: neurofibromatosis type 1 LEOPARD syndrome , also called Noonan syndrome with multiple lentigines Costello syndrome cardiofaciocutaneous syndrome Legius syndrome capillary malformation–arteriovenous malformation syndrome
    • Noonan Syndrome 1 Omim
      Mutation in the PTPN11 gene also causes LEOPARD syndrome-1 (LPRD1; 151100), a disorder with features overlapping those of Noonan syndrome. ... It now seems clear that the patients of Koretzky et al. (1969) had Noonan syndrome. Mendez and Opitz (1985) stated that the Watson syndrome (193520) and the LEOPARD syndrome (151100) 'are essentially indistinguishable from the Noonan syndrome.' ... Leichtman (1996) reported a family suggesting that cardiofaciocutaneous syndrome (CFC; 115150) is a variable expression of Noonan syndrome. ... The authors raised the possibility that Noonan syndrome and Noonan syndrome-like disorder with multiple giant cell lesions might be allelic disorders. ... Legius et al. (1998) performed linkage analysis in a 4-generation Belgian family with Noonan syndrome in some individuals and CFC syndrome in others.
    • Noonan Syndrome 3 Omim
      Description Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999). ... Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11. ... Kratz et al. (2009) reported 2 unrelated patients with Noonan syndrome-3 who also had craniosynostosis. ... Kratz et al. (2009) noted that craniosynostosis is not a commonly recognized feature of Noonan syndrome. Molecular Genetics In a girl with severe Noonan syndrome, Schubbert et al. (2006) identified a heterozygous de novo mutation in the KRAS gene (T58I; 190070.0011). ... Schubbert et al. (2006) also analyzed 50 additional individuals with Noonan syndrome and 12 with cardiofaciocutaneous syndrome (CFC; 115150) and identified KRAS mutations in 1 individual with Noonan syndrome and 1 with CFC.
    • Noonan Syndrome Gene_reviews
      Myeloproliferative disorders, either transient or more fulminant, can also occur in infants with Noonan syndrome [Kratz et al 2005]. Noonan-like / multiple giant-cell lesion syndrome. The giant-cell granulomas and bone and joint anomalies in Noonan-like / multiple giant-cell lesion syndrome are recognized to be part of the Noonan syndrome spectrum. ... Mild expression is likely to be overlooked. Differential Diagnosis Turner syndrome, found only in females, is differentiated from Noonan syndrome (NS) by demonstration of a sex chromosome abnormality on cytogenetic studies in individuals with Turner syndrome. ... Cardiofaciocutaneous (CFC) syndrome and NS have the greatest overlap in features. ... Noonan syndrome-like disorder with or without JMML (OMIM 613563).
    • Noonan Syndrome Mayo_clinic
      They may use a growth hormone to treat short height in some people with Noonan syndrome. Symptoms Symptoms of Noonan syndrome vary greatly and range from mild to severe. ... Growth issues Noonan syndrome can affect typical growth. Many children with Noonan syndrome do not grow at a typical rate. ... It's common for males with Noonan syndrome to have undescended testicles. ... In some cases, the cause of Noonan syndrome is not known. Risk factors A parent with Noonan syndrome has a 50% chance of passing the changed gene to a child. ... Genetic testing can detect Noonan syndrome. If Noonan syndrome is detected early, it's possible that proper and ongoing care may lessen complications such as heart disease.
    • Noonan Syndrome 9 Omim
      A number sign (#) is used with this entry because of evidence that Noonan syndrome-9 (NS9) is caused by heterozygous mutation in the SOS2 gene (601247) on chromosome 14q21. ... For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). Clinical Features Yamamoto et al. (2015) reported 5 patients from 3 unrelated families with Noonan syndrome-9. ... Inheritance The transmission pattern of Noonan syndrome-9 in the families reported by Yamamoto et al. (2015) was consistent with autosomal dominant inheritance. ... The 2 probands were from a cohort of 50 Brazilian patients with Noonan syndrome who underwent whole-exome sequencing and thus accounted for 4% of patients in this cohort. ... The T376S mutation was subsequently found in a mother and daughter with Noonan syndrome from the United States. Functional studies of the variants were not performed.
    • Noonan Syndrome 6 Omim
      A number sign (#) is used with this entry because this form of Noonan syndrome (NS6) is caused by heterozygous mutation in the NRAS gene (164790) on chromosome 1p13. For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). Clinical Features Cirstea et al. (2010) reported 4 unrelated probands with Noonan syndrome-6. ... Ekvall et al. (2015) described a 28-year-old woman who was diagnosed with Noonan syndrome at age 4 because of growth retardation, cardiomyopathy, and facial features. ... Molecular Genetics In 5 patients, including a mother and son, with Noonan syndrome-6, Cirstea et al. (2010) identified 1 of 2 different heterozygous mutations in the NRAS gene (T50I, 164790.0004 and G60E, 164790.0005). ... By targeted next-generation sequencing in a father and daughter with Noonan syndrome, Ekvall et al. (2015) identified heterozygosity for G60E mutation in the NRAS gene.
    • Noonan Syndrome 4 Omim
      A number sign (#) is used with this entry because Noonan syndrome-4 (NS4) is caused by heterozygous mutation in the SOS1 gene (182530) on chromosome 2p22. For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). Clinical Features Roberts et al. (2007) and Tartaglia et al. (2007) delineated a Noonan syndrome phenotype caused by mutation in the SOS1 gene that lies within the Noonan syndrome spectrum but is distinctive. ... Ferrero et al. (2008) reported a newborn with Noonan syndrome due to SOS1 mutation (T266K; 182530.0002). ... Mascheroni et al. (2008) suggested that PVNS is a proliferative lesion that can be part of the phenotypic spectrum of Noonan syndrome. Hanna et al. (2009) reported 2 brothers, born of consanguineous parents, with Noonan syndrome-like disorder with multiple giant cell lesions. ... Noonan syndrome-associated SOS1 mutations are hypermorphs encoding products that enhance RAS and ERK activation.
    • Noonan Syndrome 10 Omim
      A number sign (#) is used with this entry because of evidence that Noonan syndrome-10 (NS10) is caused by heterozygous mutation in the LZTR1 gene (600574) on chromosome 22q11. ... For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). Clinical Features Yamamoto et al. (2015) reported 5 unrelated families with Noonan syndrome-10. ... Inheritance The transmission pattern of Noonan syndrome-10 in the families reported by Yamamoto et al. (2015) was consistent with autosomal dominant inheritance. Molecular Genetics In affected members of 5 families with Noonan syndrome-10, Yamamoto et al. (2015) identified 5 different heterozygous missense mutations in the LZTR1 gene (see, e.g., 600574.0007-600574.0009). ... Mutations in 4 of the families were found by whole-exome sequencing of a cohort of 50 Brazilian patients with Noonan syndrome; the fifth family was of Polish origin.
    • Noonan Syndrome 7 Omim
      A number sign (#) is used with this entry because this form of Noonan syndrome (NS7) is caused by heterozygous mutation in the BRAF gene (164757). Cardiofaciocutaneous syndrome (CFCS; 115150) and LEOPARD syndrome-3 (613707) can also be caused by mutation in the BRAF gene, indicating that they are allelic disorders. For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). Description Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009). Clinical Features Sarkozy et al. (2009) reported 5 unrelated patients with Noonan syndrome-7. Common clinical features included poor neonatal growth, variable feeding difficulties, short stature, mild to moderate cognitive defects, skeletal anomalies, and hypotonia. ... Molecular Genetics In 5 (1.9%) of 270 patients with a clinical diagnosis of Noonan syndrome, Sarkozy et al. (2009) identified 4 different heterozygous de novo mutations in the BRAF gene (164757.0022, 164757.0023, 164757.0025, and 164757.0026).
    • Noonan Syndrome 5 Omim
      A number sign (#) is used with this entry because of evidence that Noonan syndrome-5 (NS5) is caused by heterozygous mutation in the RAF1 gene (164760) on chromosome 3p25. For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). Molecular Genetics Pandit et al. (2007) analyzed the RAF1 gene, a serine-threonine kinase that activates MEK1 (176872) and MEK2 (601263), in 231 individuals with Noonan syndrome who did not have mutations in the PTPN11 (176876), KRAS (190070), or SOS1 (182530) genes. ... Razzaque et al. (2007) analyzed the RAF1 gene in 30 individuals clinically diagnosed with Noonan syndrome who were negative for mutations in the PTPN11, KRAS, HRAS (190020), or SOS1 genes, and identified 5 different missense mutations in RAF1 in 10 (33%) individuals.
  • Charcot–marie–tooth Disease Wikipedia
    Please improve this by adding secondary or tertiary sources . ( May 2020 ) ( Learn how and when to remove this template message ) Charcot-Marie-Tooth disease Other names Charcot–Marie–Tooth neuropathy, peroneal muscular atrophy, Dejerine-Sottas Syndrome The foot of a person with Charcot–Marie–Tooth disease: The lack of muscle, a high arch , and claw toes are signs of this genetic disease. ... When neuropathic pain is present as a symptom of CMT, it is comparable to that seen in other peripheral neuropathies , as well as postherpetic neuralgia and complex regional pain syndrome , among other diseases. [9] Causes [ edit ] Chromosome 17 Charcot–Marie–Tooth disease is caused by genetic mutations that cause defects in neuronal proteins. ... "Gastrointestinal involvement in neurologic disorders: Stiff-man and Charcot–Marie–Tooth syndromes". The American Journal of the Medical Sciences . 313 (1): 70–73. doi : 10.1097/00000441-199701000-00012 . ... Retrieved August 26, 2011 . ^ "Charcot-Marie-Tooth Syndrome. CMT information" . Patient . ^ Carter, Gregory T.; Jensen, Mark P.; Galer, Bradley S.; Kraft, George H.; Crabtree, Linda D.; Beardsley, Ruth M.; Abresch, Richard T.; Bird, Thomas D. (1998). ... External links [ edit ] Classification D ICD - 10 : G60.0 ICD - 9-CM : 356.1 OMIM : 311860 611566 311070 605588 311850 (X Type 5) 302800 304040 (X Type 1) MeSH : D002607 DiseasesDB : 5815 External resources MedlinePlus : 000727 eMedicine : orthoped/43 pmr/29 GeneReviews : Charcot-Marie-Tooth Hereditary Neuropathy Overview Charcot-Marie-Tooth Neuropathy Type 1 Charcot-Marie-Tooth Neuropathy X Type 5 Charcot-Marie-Tooth Neuropathy X Type 1 GARS-Associated Axonal Neuropathy, Charcot-Marie-Tooth Neuropathy Type 2D, Distal Spinal Muscular Atrophy V Charcot–Marie–Tooth disease at Curlie v t e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve Carpal tunnel syndrome Ape hand deformity ulnar nerve Ulnar nerve entrapment Froment's sign Ulnar tunnel syndrome Ulnar claw radial nerve Radial neuropathy Wrist drop Cheiralgia paresthetica long thoracic nerve Winged scapula Backpack palsy Leg lateral cutaneous nerve of thigh Meralgia paraesthetica tibial nerve Tarsal tunnel syndrome plantar nerve Morton's neuroma superior gluteal nerve Trendelenburg's sign sciatic nerve Piriformis syndrome Cranial nerves See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN Charcot–Marie–Tooth disease Dejerine–Sottas disease Refsum's disease Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsy Familial amyloid neuropathy Autoimmune and demyelinating disease Guillain–Barré syndrome Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy Brachial plexus injury Thoracic outlet syndrome Phantom limb Other Alcoholic polyneuropathy Other General Complex regional pain syndrome Mononeuritis multiplex Peripheral neuropathy Neuralgia Nerve compression syndrome v t e Inherited disorders of trafficking / vesicular transport proteins Vesicle formation Lysosome / Melanosome : HPS1 – HPS7 Hermansky–Pudlak syndrome LYST Chédiak–Higashi syndrome COPII : SEC23A Cranio-lenticulo-sutural dysplasia COG7 CDOG IIE APC: AP1S2 X-linked intellectual disability AP3B1 Hermansky–Pudlak syndrome 2 AP4M1 CPSQ3 Rab ARL6 BBS3 RAB27A Griscelli syndrome 2 CHM Choroideremia MLPH Griscelli syndrome 3 Cytoskeleton Myosin : MYO5A Griscelli syndrome 1 Microtubule : SPG4 Hereditary spastic paraplegia 4 Kinesin : KIF5A Hereditary spastic paraplegia 10 Spectrin : SPTBN2 Spinocerebellar ataxia 5 Vesicle fusion Synaptic vesicle : SNAP29 CEDNIK syndrome STX11 Hemophagocytic lymphohistiocytosis 4 Caveolae : CAV1 Congenital generalized lipodystrophy 3 CAV3 Limb-girdle muscular dystrophy 2B , Long QT syndrome 9 Vacuolar protein sorting : VPS33B ARC syndrome VPS13B Cohen syndrome DYSF Distal muscular dystrophy See also vesicular transport proteins v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins v t e Cell membrane protein disorders (other than Cell surface receptor , enzymes , and cytoskeleton ) Arrestin Oguchi disease 1 Myelin Pelizaeus–Merzbacher disease Dejerine–Sottas disease Charcot–Marie–Tooth disease 1B, 2J Pulmonary surfactant Surfactant metabolism dysfunction 1, 2 Cell adhesion molecule IgSF CAM : OFC7 Cadherin : DSG1 Striate palmoplantar keratoderma 1 DSG2 Arrhythmogenic right ventricular dysplasia 10 DSG4 LAH1 DSC2 Arrhythmogenic right ventricular dysplasia 11 Integrin : cell surface receptor deficiencies Tetraspanin TSPAN7 X-Linked mental retardation 58 TSPAN12 Familial exudative vitreoretinopathy 5 Other KIND1 Kindler syndrome HFE HFE hereditary haemochromatosis DYSF Distal muscular dystrophy Limb-girdle muscular dystrophy 2B See also other cell membrane proteins v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins
    PMP22, GDAP1, MPZ, LRSAM1, FIG4, TRPV4, KIF1B, LMNA, GJB1, MFN2, SH3TC2, DYNC1H1, MORC2, HOXD10, SPTLC1, SBF2, SPTLC2, SETX, EGR2, MTMR2, SLC25A46, NEFL, GARS1, NDRG1, FGD4, DHTKD1, COX6A1, GSTT2, DNM2, SLC12A6, HSPB8, HSPB1, AARS1, ATP6, SBF1, MED25, ARHGEF10, IGHMBP2, MARS1, HINT1, DNAJB2, BAG3, PRX, MAD2L1BP, INF2, WASHC5, CTDP1, LITAF, RAB7B, RNMT, DES, RAB7A, TTN, GART, HSPB3, MTM1, YARS1, HSPB2, JPH1, YARS2, HDAC6, BSCL2, NEFH, PRPS1, HARS1, AIFM1, CMTX3, SMN1, FXN, PMP2, PLEK, PLEKHG5, PDK3, PRKN, CBLL2, MUL1, GNB4, ATP1A1, CANX, CCL2, SPG11, SMN2, DCPS, SOD1, TNF, MCM3AP, AARS2, TSG101, PNKP, SLURP1, RIEG2, SLA2, TFG, TUBA1B, SOX10, MME, CDC42, MAG, POLG, EGFR, KIF5A, APOA2, NEDD4, CNTF, HADHB, ACE, MFN1, DFNA7, DNM1, CUX1, SLC2A4RG, CSF1, DMPK, ROM1, DRP2, MYO15A, EEF1A1, IL17B, SIGLEC7, EMP2, EMP3, SACS, HARS2, TARDBP, TRIM2, IQSEC2, LPAR1, TEKT3, COX10, ERBB3, GSTT2B, GUSBP3, MIR29A, PLEKHM3, GSTK1, ACTG1, DFNA49, APCDD1, SLCO6A1, C1orf194, APP, LRIG3, AHNAK2, ARSA, SERPINC1, DGAT2, SYVN1, ATP7A, BAG1, SCARB2, CD44, CMTX2, ACD, ERBB2, PSIP1, RAB18, BUD31, NTF3, KHSRP, PFN2, GAN, MBS2, PGK1, D1S111, WARS1, PGM1, PGR, TNFRSF1B, TCF3, SURF1, SRY, SPARC, ACTB, PRB4, SNRPN, PRS, PXMP2, SGCA, REN, RFC1, PER2, MYO1A, FUS, SNURF, GBA, SORT1, RER1, GUSBP14, GBAP1, DCTN2, FBLN5, GJB2, GJB3, GLC3B, BCL2L11, GOT2, SCO2, HCLS1, HK1, HPT, IL2RB, KARS1, NRG2, STMN1, LCAT, ARHGEF2, MBP, GUSBP1
    • Charcot-Marie-Tooth Disease Mayo_clinic
      Overview Charcot (shahr-KOH)-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in the arms and legs (peripheral nerves). Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy. Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities such as hammertoes and high arches also are common. Symptoms usually begin in the feet and legs, but they may eventually affect your hands and arms. Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but may also develop in midlife.
    • Charcot-Marie-Tooth Disease Gard
      Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, “slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page .
  • Glossitis Wikipedia
    Burning sensation. [2] Some use the term secondary burning mouth syndrome in cases where a detectable cause, such as glossitis, for an oral burning sensation. [5] Depending upon the underlying cause, there may be additional signs and symptoms such as pallor , oral ulceration and angular cheilitis. [2] Causes [ edit ] Anemias [ edit ] Iron-deficiency anemia is mainly caused by blood loss, such as may occur during menses or gastrointestinal hemorrhage . ... Alcoholism [7] Sprue ( celiac disease , [11] or tropical sprue ), secondary to nutritional deficiencies [7] Crohn’s disease [7] Whipple disease [7] Glucagonoma syndrome [7] Cowden disease [7] Acquired immunodeficiency syndrome (AIDS) [7] Carcinoid syndrome [7] Kwashiorkor amyloidosis [7] Veganism and other specialized diets , [2] Poor hydration and low saliva in the mouth, which allows bacteria to grow more readily Mechanical irritation or injury from burns, rough edges of teeth or dental appliances, or other trauma Tongue piercing [12] Glossitis can be caused by the constant irritation by the ornament and by colonization of Candida albicans in site and on the ornament [13] Exposure to irritants such as tobacco , alcohol , hot foods, or spices Allergic reaction to toothpaste , mouthwash , breath fresheners, dyes in confectionery, plastic in dentures or retainers, or certain blood-pressure medications ( ACE inhibitors ) Administration of ganglion blockers (e.g., Tubocurarine , Mecamylamine ). ... "Interventions for treating burning mouth syndrome" . The Cochrane Database of Systematic Reviews . 11 : CD002779. doi : 10.1002/14651858.CD002779.pub3 . ... PMID 15835487 . ^ Park AH, Batchra N, Rowley A, Hotaling A (May 1997). "Patterns of Kawasaki syndrome presentation". Int. J. Pediatr. ... "Prolonged use of a diaphragm and toxic shock syndrome". Fertil. Steril . 38 (2): 248–50. doi : 10.1016/s0015-0282(16)46467-8 .
    PTPN22, SLC39A4, LMBRD1, SLC46A1, SLC6A19, ERVK-6, ERVK-32
  • Cyld Cutaneous Syndrome Gene_reviews
    Offspring of an individual with CYLD cutaneous syndrome have a 50% chance of inheriting the variant. ... Diagnosis Formal diagnostic criteria for CYLD cutaneous syndrome (CCS) have not been established. ... Individuals with CYLD cutaneous syndrome may present with more than one tumor type discussed below. ... Outdated terms previously used in the literature to refer to CYLD cutaneous syndrome include the following: Ancell-Spiegler cylindromas Dermal eccrine cylindroma Turban tumor syndrome (now denoted as confluent scalp tumors) Prevalence The true prevalence of CYLD cutaneous syndrome is unknown but may be in the order of more than 1:100,000 population [Rajan & Ashworth 2015]. ... Disorders with Multiple Facial Papules in the Differential Diagnosis of CYLD Cutaneous Syndrome (CCS) View in own window Gene(s) Disorder 1 Distinguishing Histologic Features in Differential Disorder Comment FLCN Birt-Hogg-Dubé syndrome Fibrofolliculomas NF1 Neurofibromatosis 1 (NF1) Neurofibromas Both NF1 & CCS are assoc w/lesions on the torso PTEN Cowden syndrome (see PTEN H amartoma Tumor Syndrome) Trichilemmomas TSC1 TSC2 Tuberous sclerosis complex Angiofibromas HR Marie Unna hypotrichosis 1 (MUHH1) (OMIM 146550) Trichoepitheliomas 2 Severe hair breakage/loss & absence of cylindromas in MUHH1 further distinguishes MUHH1 from CCS.
  • Cancer Syndrome Wikipedia
    Many cancer syndromes are inherited in this manner. ... If both parents have one mutant allele and one normal allele ( heterozygous ) then they have a 25% chance of producing a homozygous recessive child (has predisposition), 50% chance of producing a heterozygous child (carrier of the faulty gene) and 25% chance of produced a child with two normal alleles. [8] Examples of autosomal dominant cancer syndromes are autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), Beckwith–Wiedemann syndrome (although 85% of cases are sporadic), [ citation needed ] Birt–Hogg–Dubé syndrome , Carney syndrome , familial chordoma , Cowden syndrome , dysplastic nevus syndrome with familial melanoma , familial adenomatous polyposis , hereditary breast–ovarian cancer syndrome , hereditary diffuse gastric cancer (HDGC), Hereditary nonpolyposis colorectal cancer (Lynch syndrome), Howel–Evans syndrome of esophageal cancer with tylosis , juvenile polyposis syndrome , Li–Fraumeni syndrome , multiple endocrine neoplasia type 1/2, multiple osteochondromatosis , neurofibromatosis type 1/2, nevoid basal-cell carcinoma syndrome (Gorlin syndrome), Peutz–Jeghers syndrome , familial prostate cancer , hereditary leiomyomatosis renal cell cancer (LRCC), hereditary papillary renal cell cancer , hereditary paraganglioma -pheochromocytoma syndrome, retinoblastoma , tuberous sclerosis , von Hippel–Lindau disease and Wilm's tumor . [9] Examples of autosomal recessive cancer syndromes are ataxia–telangiectasia , Bloom syndrome , Fanconi anemia , MUTYH-associated polyposis, Rothmund–Thomson syndrome , Werner syndrome and Xeroderma pigmentosum . [9] Examples [ edit ] Although cancer syndromes exhibit an increased risk of cancer, the risk varies. ... Tumors with increased risk in this disorder are colorectal cancer, gastric adenomas and duodenal adenomas. [15] [28] Micrograph showing keratocystic odontogenic tumour , a common finding in nevoid basal cell carcinoma syndrome. H&E stain . Nevoid basal cell carcinoma syndrome [ edit ] Nevoid basal cell carcinoma syndrome , also known as Gorlin syndrome, is an autosomal dominant cancer syndrome in which the risk of basal cell carcinoma is very high. ... PMID 15050066 . ^ Lo Muzio L (2008). "Nevoid basal cell carcinoma syndrome (Gorlin syndrome)" . Orphanet Journal of Rare Diseases . 3 : 32. doi : 10.1186/1750-1172-3-32 . ... PMID 19078925 . ^ Carethers JM, Stoffel EM (2015). "Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer" .
    RET, VHL, BAP1, TP53, PTEN, BRCA1, FH, MLH1, BRCA2, CDH1, MSH2, STK11, DICER1, TSC2, SDHB, PMS2, MSH6, APC, BMPR1A, CDKN2A, SDHAF2, MRPS18C, SMARCB1, RAD51B, RAD51D, RB1, CDKN2B-AS1, RECQL, FLCN, SDHA, SDHC, SDHD, SMARCA4, C11orf65, SMARCE1, TOE1, ABRAXAS1, BRIP1, XRCC2, FBXO11, PALB2, RAD50, RAD51C, CHEK2, MPRIP, TMEM127, HOXB13, POLE, PTCH1, MUTYH, BARD1, BLM, CDK4, CTNNA1, EXT2, FANCC, HFE, SMAD4, MAX, ATM, MITF, MRE11, TH2LCRR, NBN, NF1, POLD1, NTHL1, MRC1, MEN1, CDC73, CYP19A1, ST8, PLAU, BRAF, RUNX1, PKM, PIK3CG, CTNNB1, SORD, SDS, SARDH, PIK3CD, MSH3, PART1, PIK3CA, KRAS, SERPINE1, PIK3CB
  • Wolff–parkinson–white Syndrome Wikipedia
    Wolff–Parkinson–White syndrome Other names WPW pattern, Ventricular pre-excitation with arrhythmia, auriculoventricular accessory pathway syndrome [1] [2] A characteristic "delta wave" (arrow) seen in a person with Wolff–Parkinson–White syndrome. ... "The prevalence of the Wolff–Parkinson–White syndrome in a population of 116,542 young males". ... PMID 11526369 . ^ John Kenyon. Wolff–Parkinson–White Syndrome and the Risk of Sudden Cardiac Death. ... Available at: "Wolff-Parkinson-White Syndrome and the Risk of Sudden Cardiac Death" . ... "Atrial fibrillation in the Wolff–Parkinson–White syndrome: ECG recognition and treatment in the ED".
    PRKAG2, ND1, ND4L, NDUFS2, ND6, ATP6, COX1, COX3, CYTB, ND5, ND2, ND4, TBX2, JAG1, APRT, MFAP1, LAMP2, CBS, BMP2, CBSL
    • Pre-Excitation Syndrome Wikipedia
      Unsourced material may be challenged and removed. Find sources: "Pre-excitation syndrome" – news · newspapers · books · scholar · JSTOR ( October 2013 ) ( Learn how and when to remove this template message ) Pre-excitation syndrome Electrical conduction system of the heart . ... Contents 1 Types 2 Pathophysiology 3 References 4 External links Types [ edit ] Several types of pre-excitation syndrome have been described. [3] Type Conduction pathway PR interval QRS interval Delta wave? Wolff-Parkinson-White syndrome Bundle of Kent (atria to ventricles) short long yes Lown-Ganong-Levine syndrome "James bundle" (atria to bundle of His) short normal no Mahaim-type Mahaim fibers normal long no Pathophysiology [ edit ] Normally, the atria and the ventricles are electrically isolated, and electrical contact between them exists only at the " atrioventricular node ". In all pre-excitation syndromes, at least one more conductive pathway is present. ... External links [ edit ] Classification D ICD - 10 : I45.6 ICD - 9-CM : 426.7 , 426.81 MeSH : D011226 DiseasesDB : 32903 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever This article about a medical condition affecting the circulatory system is a stub .
  • Myotonic Dystrophy Wikipedia
    History [ edit ] Myotonic dystrophy was first described by a German physician, Hans Gustav Wilhelm Steinert , who first published a series of 6 cases of the condition in 1909. [27] Isolated case reports of myotonia had been published previously, including reports by Frederick Eustace Batten and Hans Curschmann, and Type 1 myotonic dystrophy is therefore sometimes known as Curschmann-Batten-Steinert syndrome. [28] The underlying cause of type 1 Myotonic dystrophy was determined in 1992. [2] References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x "myotonic dystrophy" . ... "[Case of Curschmann-Batten-Steinert syndrome]". Wiad. Lek. (in Polish). 34 (17): 1467–9. ... External links [ edit ] Myotonic dystrophy at Curlie Classification D ICD - 10 : G71.1 OMIM : 160900 MeSH : D009223 DiseasesDB : 8739 External resources GeneReviews : Myotonic Dystrophy Type 1 Orphanet : 206647 v t e Muscular dystrophy Types Congenital Dystrophinopathy Becker's Duchenne Distal Emery-Dreifuss Facioscapulohumeral Limb-girdle muscular dystrophy Calpainopathy Myotonic Oculopharyngeal National/International Organizations Muscular Dystrophy Association (USA) Muscular Dystrophy Canada Myotonic Dystrophy Foundation Muskelsvindfonden (Denmark) National/International Events MDA Muscle Walk (USA) Labor Day Telethon (defunct; USA/Canada) Décrypthon (France) Grøn Koncert (Denmark) Clinical trials Stamulumab (MYO-029) Category v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Non-Mendelian inheritance : anticipation Trinucleotide Polyglutamine (PolyQ), CAG Dentatorubral-pallidoluysian atrophy Huntington's disease Kennedy disease Spinocerebellar ataxia 1, 2, 3, 6, 7, 17 ( Machado-Joseph disease ) Non-polyglutamine CGG ( Fragile X syndrome ) GAA ( Friedreich's ataxia ) CTG ( Myotonic dystrophy type 1 ) CTG ( Spinocerebellar ataxia 8 ) CAG ( Spinocerebellar ataxia 12 ) Tetranucleotide CCTG ( Myotonic dystrophy type 2 ) Pentanucleotide ATTCT ( Spinocerebellar ataxia 10 ) v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )
    DMPK, CNBP, NKX2-5, CELF1, MBNL1, CCT3, APOC2, INSR, SIX5, CKM, ERCC1, CLCN1, FXN, RANGAP1, PRKCA, HCRT, PRRT2, DMD, BUB1, PRKCB, POMC, NEK6, DMWD, MAPT, ACTB, CEBPD, MBNL2, SCN4A, TNF, QPCT, KCNN3, TNNI3, IGHD1-7, MSH3, UGT8, OXA1L, PLCB1, PGD, SCN5A, CDC42BPB, ALB, RAN, REM1, TNNT1, GH1, FSD1L, FSD1, BCL3, APOC1, MIR206, BIN1, GSK3B, CLIP2, MAK16, GGTLC1, RIDA, BPIFA2, OPN1MW3, OPN1MW2, SLC35G1, ROCK2, WASL, MTMR1, C9orf72, CTCF, CDC42BPA, DYSF, ST8SIA4, MIR29C, CELF2, RAB6B, FAM107B, ASB2, TNFRSF12A, TP53, RBFOX1, NAT10, IGHD1-14, DESI1, RBMS3, PDLIM3, FGF21, PNO1, ATRNL1, JPH3, MMD, CELF6, SRRM2, GGCT, ASRGL1, SPEN, LDB3, RSPH6A, RAB1B, CCL27, RAP2B, TCF4, CYP2B6, KCNQ1, IL6, IGLC3, GPR4, GHRH, OPN1MW, GC, FRAXE, FEN1, F5, DDX6, DDX5, CYP2A13, MEF2A, CYP2A7, CYP2A6, CDC42, CD59, CCND3, ATP1A3, ATHS, ARF3, APOE, AMPH, AMH, ALPP, LDLR, MEF2C, SYN1, PSPH, STXBP3, SRF, SLPI, SLC1A2, SRSF2, ATXN1, CLIP1, RRAS, ROCK1, REG1A, RAP1B, PTBP1, PSPN, ATXN3, PRNP, PRKCG, PRKAB1, PRKAA2, PRKAA1, PEPD, MYOG, MTM1, MSMB, MSH2, MRC1, MLH1, LOC102724197
    • Myotonic Dystrophy Gard
      Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing ( myotonia ) and are not able to relax certain muscles after use.
  • Hereditary Diffuse Gastric Cancer Gene_reviews
    Variants in TNF and IFNGR1 can significantly increase the risk for gastric cancer, particularly in those infected with virulent strains of H pylori [Canedo et al 2008]. Other Cancer Predisposition Syndromes Gastric cancer is seen in several other autosomal dominant cancer predisposition syndromes, including Lynch syndrome (hereditary non-polyposis colorectal cancer), Li-Fraumeni syndrome, familial adenomatous polyposis, Peutz-Jeghers syndrome, and Cowden syndrome (one of the PTEN hamartoma tumor syndrome phenotypes). Lynch syndrome , which is associated with germline pathogenic variants in mismatch repair genes or EPCAM , predisposes heterozygotes to colorectal and other cancers. ... IGC is the predominant subtype in Lynch syndrome [Lynch et al 2005, Capelle et al 2010]. ... The incidence of gastric cancer is significantly higher in individuals with FAP in the East Asian population [Yamaguchi et al 2016]. Li-Fraumeni syndrome (LFS). Cancers in LFS are caused by pathogenic variants in TP53 . ... All individuals have immediate as well as long-term complications including rapid intestinal transit, dumping syndrome, diarrhea, eating habit alterations, and weight loss [Caldas et al 1999, Lewis et al 2001].
    CDH1, CTNNA1, FZR1, APC, MRC1, ST8, TP53, PALB2
  • Endometrial Cancer Wikipedia
    Overall, hereditary causes contribute to 2–10% of endometrial cancer cases. [3] [24] Lynch syndrome , an autosomal dominant genetic disorder that mainly causes colorectal cancer , also causes endometrial cancer, especially before menopause. Women with Lynch syndrome have a 40–60% risk of developing endometrial cancer, higher than their risk of developing colorectal (bowel) or ovarian cancer. [17] Ovarian and endometrial cancer develop simultaneously in 20% of people. Endometrial cancer nearly always develops before colon cancer, on average, 11 years before. [18] Carcinogenesis in Lynch syndrome comes from a mutation in MLH1 or MLH2 : genes that participate in the process of mismatch repair , which allows a cell to correct mistakes in the DNA. [17] Other genes mutated in Lynch syndrome include MSH2 , MSH6 , and PMS2 , which are also mismatch repair genes. Women with Lynch syndrome represent 2–3% of endometrial cancer cases; some sources place this as high as 5%. [18] [21] Depending on the gene mutation, women with Lynch syndrome have different risks of endometrial cancer. ... There is an apparent link with these genes but it is attributable to the use of tamoxifen, a drug that itself can cause endometrial cancer, in breast and ovarian cancers. [17] The inherited genetic condition Cowden syndrome can also cause endometrial cancer.
    PTEN, ESR1, FGFR2, PGR, VEGFA, CCND1, ESR2, CDH1, MSH6, EP300, CYP11A1, MYC, STAR, SRD5A2, AKR1C1, HOXA10, AKR1C3, TNFSF10, SPOP, HOXA11, ABCC9, SOCS3, SRSF10, DCN, EZH2, ARID1A, SEMA3B, HSD17B2, NRIP1, SEMA3F, SIX1, POLD1, PAWR, NFE2L2, SULT2B1, MTHFR, MSH3, ZEB1, MAP3K4, TP53, LASP1, CXCL8, MLH3, IGF1R, SUZ12, CCL2, CHD4, BIRC5, TSPYL2, RNF43, PLXNA3, CDKN1C, JAZF1, FBXW7, AKR1B10, RNF144B, AKR1B1, CHFR, MIR200C, CDKN2A, MET, STK11, ERRFI1, CDKN2B, CTNNB1, HNF1B, LSAMP, SH2B3, RNGTT, FAM182A, ATXN2, ECT2L, RETREG3, TMTC1, SCAF8, CLEC3A, CYP19A1, TDP2, PTGS2, MLH1, MSH2, PIK3CA, AR, MMP2, KRAS, CYP17A1, BCL2, CYP1B1, AKT1, CCN1, ERBB2, MMP9, CFLAR, COMT, STS, EMP2, FAS, SULT1A1, CD82, PPIA, SULT1E1, SERPINB2, MGMT, MDM2, LEPR, FOXO1, TNF, MMP26, WT1, IL6, EBAG9, HIF1A, IL1A, NR1I2, CTNNBIP1, RDH16, SLC12A9, CHEK2, HOXB13, FST, NDRG1, SREBF1, PROM1, PROK1, SPP1, ACKR3, SIGLEC1, SKP2, PELP1, AURKB, SHBG, ADIPOQ, SIRT1, NAPSA, SDC1, CASC2, TCF7L2, RASSF1, UGT1A1, TTF1, WNT7A, TSC2, HSP90B1, SLC22A16, HTRA3, HPSE, LRIG2, TLR4, TRIM25, FSTL1, SCGB1A1, TLR3, CXCR4, NKX2-1, C19orf33, TFF3, NCOA3, TERT, ARMC3, KIAA1324, IGF2BP3, ADM, MMP13, S100A8, CLDN4, CRP, CSNK2B, VCAN, CXADR, CYP1A1, CYP3A4, DNMT1, TYMP, EGFR, ENG, EPO, EPOR, ERCC1, ETS1, ETV5, F2RL1, FABP5, FHIT, FOS, MTOR, NR5A2, CLDN3, CPE, S100A4, MAP3K8, NR0B1, ALDH1A1, APC, BIRC2, ATM, CEACAM1, BMI1, BRCA1, BRAF, BRCA2, DDR1, CAV1, RUNX3, CCND3, CD44, CDC25B, CDH13, CDK6, CDKN1A, CDX2, CLU, NR5A1, GH1, GJB2, GSTP1, SCGB2A1, MME, MMP7, ADRB3, MMP14, MSI1, COX1, MUTYH, NEDD4, NFKB1, OVGP1, PCNA, SERPINF1, ABCB1, SERPINB5, PIK3R1, PLAU, PPARG, PRKCA, HTRA1, RARB, MDK, SMAD7, LLGL1, HSPE1, HAS1, HDAC1, HMMR, NR4A1, FOXA1, SLC29A2, HRAS, HSD3B2, HSD17B1, IGF1, L1CAM, IGFBP1, IL1B, IL1RN, INHBA, CXCL10, ITGB1, JUN, JUP, KCNN4, PERCC1
  • Breast Cancer Omim
    Breast cancer is a feature of several cancer syndromes, including Li-Fraumeni syndrome (151623) due to germline mutations in p53; Cowden syndrome (158350) due to mutations in the PTEN gene (601728); and Peutz-Jeghers syndrome (175200) due to mutations in the STK11 gene (602216). ... Soft tissue sarcomas are associated with breast cancer in Li-Fraumeni syndrome. Mulvihill (1982) used the term cancer family syndrome of Lynch (120435) for the association of colon and endometrial carcinoma and other neoplasms including breast cancer. ... Other Features Chang et al. (1987) showed that the noncancerous skin fibroblasts of members of a family with Li-Fraumeni syndrome (which show resistance to the killing effect of ionizing radiation) have a 3- to 8-fold elevation in expression of the MYC oncogene (190080) and an apparent activation of the RAF1 gene (164760). ... Lynch et al. (1984) found evidence consistent with a hereditary breast cancer syndrome in 5% of 225 consecutively ascertained patients with verified breast cancer. ... Kainu et al. (2000) adopted a strategy similar to that used in the identification of the locus for the Peutz-Jeghers cancer syndrome (175200), based on the Knudson 2-hit model of development: detection of somatic deletions in the wildtype gene by comparative genomic hybridization (CGH) followed by targeted linkage analysis.
    PALB2, XRCC2, RAD51D, ATM, BRCA1, BRCA2, CHEK2, BARD1, RAD50, NBN, SLX4, MLH1, MRE11, MUTYH, RAD51C, CHEK1, RECQL, PPM1D, MSH6, CDH1, MSH2, MCPH1, RAD54L, KLLN, GEN1, SLC22A18, PIK3CA, PMS2, RINT1, EPCAM, RAD51, RET, TP53, BRIP1, ERBB2, ESR1, PTEN, BRCA3, FANCM, PARP1, COL11A2, XRCC1, ARL11, MDM2, RASSF1, NLRP2, TSG101, STK11, GADD45A, PHB, IGF1, HSD17B2, CYP17A1, BACH1, BLM, EMSY, TCF7L2, MGMT, CYP1A1, PRL, FANCI, MYLIP, RTEL1, MTUS1, UIMC1, VEGFA, MARCHF8, GSTP1, FANCD2, AKAP13, MLXIP, FGFR2, HSD17B1, CD44, WRN, CASP8, POLQ, BRD7, PPARGC1A, TOPBP1, DICER1, WIF1, FOXP1, MAST1, BABAM1, AKAP10, AATF, KLK14, FOXD3, TOX3, HPGDS, RHOBTB2, FANCB, CT55, KRT88P, MIR1179, ANGPT2, CD24, MIR499A, MIR17HG, MIR30C2, MIR30C1, MIR27A, MIR21, MIR17, APC, PPARGC1B, AR, FANCL, ABRAXAS1, ATR, PIF1, CCND1, ARHGEF28, CLSPN, BCORL1, BUB1B, VPS51, SH3RF1, CASP10, TEX15, LHFPL6, BRAP, SAFB2, RECQL5, NFKB1, CYP19A1, MYC, MTHFR, MSR1, MSH3, EGFR, EP300, KMT2A, ERCC4, MDM4, FANCA, LSS, KRAS, JAK2, CXCL10, IGFBP3, HTC2, HRAS, TLX1, HMGA1, HIF1A, GSTT1, GSTM1, SFN, FOXC1, FHIT, PER1, ABCB1, CYP2D6, CDKN2A, SLC9A3R1, PDLIM7, EXO1, CLDN1, PER2, LMO4, CAV1, CCND2, XRCC3, UCHL1, TTK, TPD52, TM7SF2, POLH, TGFBR1, TEK, SULT1A1, SOAT1, SAFB, CENPE, ANGPT1, RCC1, RAD51B, COMT, PTPRG, CTNNB1, PSC
    • Hereditary Breast Cancer Orphanet
      A rare genetic gynecological tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of BRCA1 and BRCA2 mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most BRCA1 -associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, BRCA2 -associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar.
  • Papillary Thyroid Cancer Wikipedia
    Environmental exposures to radiation such as atomic bombings of Hiroshima and Nagasaki and Chernobyl disaster also causes an increase in childhood papillary thyroid cancer at 5 to 20 years after the exposure to radiation. [38] Family history of thyroid cancer syndrome such as familial adenomatous polyposis , Carney complex , Multiple endocrine neoplasia type 2 (MEN-2), Werner syndrome , and Cowden syndrome increases the risk of getting papillary cancer. [37] References [ edit ] ^ a b c d e f Chapter 20 in: Mitchell, Richard Sheppard; Kumar, Vinay; Abbas, Abul K; Fausto, Nelson (2007).
    BRAF, NKX2-1, CCDC6, RET, FOXE1, NCOA4, PPARG, KRAS, PAX8, NTRK1, NRAS, DIRC3, NTRK3, ETV6, ALK, GAS8-AS1, PTCSC3, HRAS, MIR485, EIF1AX, SNAI1, ERC1, TPR, TFG, DIO3, MIR431, MIR381, MIR409, MIR369, MIR376C, MIR758, PCM1, TRIM27, MIR299, MIR539, MIR136, TRIM33, LPAR4, MIR654, TRIM24, MIR379, MIR382, WARS1, WDR20, MIR380, BEGAIN, NDUFA13, MIR377, MIR376A1, MIR127, MIR370, MIR134, MIR337, MIR323A, MIR433, MIR154, DIO3OS, MIR329-1, MIR496, MIR323B, MIR376A2, MIR487B, MIR411, MIR655, MIR656, MIR770, MIR300, MIR543, DYNC1H1, MIR889, MIR1247, MIR1197, MIR1193, ZEB1, GOLGA5, MIR487A, MIR493, MIR410, PPP2R5C, MIR412, MIR432, MIR494, SNAI2, MIR376B, ZEB2, MIR495, APC, HABP2, PTEN, NRG1, DICER1, TAS2R38, PTCH1, MINPP1, MAPK1, PIK3CG, TPCN1, PIK3CD, PIK3CB, CTNNB1, PIK3CA, PCNX2, ESR1, EGFR, F9, VAV3, TP53, BRCA2, MIR146B, BCL2, CCND1, TGFB1, HT, AKT1, JAG1, TG, LINC02454, TERT, LOC110806263, LGALS3, MIR222, SEC23B, MMP9, CXCR4, LIG4, TPM3, TPO, TSHR, SLC5A5, MIR221, VEGFA, EPHB2, MIR146A, COX2, FN1, CD274, MET, KRT19, MIR21, PTGS2, TIMP1, GABPA, SPP1, NCAM1, MTCO2P12, ATM, MUC1, MAP2K7, IGF1, KIT, TNF, ESR2, CD44, HIF1A, RASSF1, SLC2A1, CXCL12, HGF, VEGFC, NFE2L2, MAPK3, TTF1, MIR204, PRPF31, VDR, DUSP6, CDKN1B, MIR451A, XIAP, TFF3, PDGFRA, CYP24A1, THBS1, KDR, RUNX2, PTH, LEP, CHEK2, STAT3, ERBB2, MMP2, MIR144, PCNA, RAF1, VIM, CDKN2A, PTCH2, MDK, IRAK1, MTOR, MT1G, ROCK1, SOX2, IGF1R, CITED1, S100A4, GDF1, MYC, NOTCH1, LEPR, MDM2, TACSTD2, H3P10, ICAM1, FOXP3, MIR30A, CRK, ACKR3, TGFA, NOB1, NEAT1, MIR141, SMUG1, MIR155, MIR15A, HTC2, AKT3, DPP4, SPHK1, CENPJ, UCA1, HMGA2, TIMP3, EDN1, MIR486-1, XRCC1, AR, SNHG12, MIR613, IL6, SLC5A8, PTCSC2, MT1A, MMP11, WNK1, ORI6, SPHK2, MALAT1, MIR34B, IL10, MIR150, MIR96, MLH1, MIR199A1, MIR199A2, MCL1, MIR200A, SYTL2, MIR497, MIR29A, MIR206, SP1, KRT20, AIMP2, AHSA1, GRAP2, RAP1A, TP63, TTF2, RNH1, RPE65, KLK7, S100A11, WNT5A, VHL, UVRAG, SLC2A3, TWIST1, PPP1R13L, PROX1, TERF2IP, SGSM3, SHC3, GDE1, SIRT6, IL22, STOML2, PDGFRB, RABGEF1, CKAP4, PDCD4, POLDIP2, RNF19A, DKK1, ZHX2, MAP2K1, YAP1, ABL1, MS4A1, COL1A1, VEGFD, CCR7, HLA-G, MAPK14, DIO2, CDH1, HLA-DRB1, DIO1, EZH2, HOXD13, EDNRA, FOXO1, FAS, EGF, HMGB1, GSTM1, GPI, HSP90AA1, MIR122, MIR139, DCTN6, EBP, SOX11, GLI1, NNMT, TNFSF10, MIR202, MIR137, MIRLET7E, CDKN1A, NRP1, HOPX, TENM1, ITCH, PLAU, AKAP9, PLG, EIF4E, SLPI, DNMT1, SERPINA1, PGR, DDR2, NRCAM, P2RX7, MIR126, PAK1, ZNRD2, FGF2, PDPN, NT5E, CIB1, PCBP4, POSTN, FGFR1, CRNDE, FASLG, POLR2E, ZNRF3, KIDINS220, NOTCH3, MIR10A, PDPK1, ARNTL, MIR509-1, MIR149, MIR145, DUSP5, RAC1, CAV1, MIR7-2, RARA, MIR34A, RARG, NAPSA, MIR195, OPN1LW, RELA, CCK, ABCG2, SLIT2, MIR363, FOS, FLT3, CCL21, FLT1, RPL36A, CLDN10, MIR199B, CLDN1, S100A6, FOXO3, TMSB10, LPAR2, MIAT, MIR183, CXCL14, PTN, CDK4, PAG1, PRKAA1, PRKAA2, PRKAB1, DNMT3A, CA12, GAS5, FOXM1, MIR375, GAS1, CDH6, KEAP1, CASP3, EIF4A3, RAPGEF5, GORASP1, MIR335, PSMD9, E2F1, SFTPB, GABRB2, NECTIN4, SELL, FRTS1, NCL, C3, SYT1, TOP2A, TRAF6, JAK1, JUN, CXXC5, IL27, CASC2, HOXA@, LAMB3, LAMC2, IL17D, CREBBP, ITGA3, LINC00313, HAGLR, LGALS1, CPSF2, LMNA, MIR2861, TLR4, ERRFI1, LRP4, CRABP1, ITGA5, ITGA2, SIRT1, IL1B, H3P23, YY1, CLIP2, KLB, IFI27, DEUP1, IGFBP5, CTSC, IHH, IL1A, ZCCHC12, FALEC, HSPA5, CXCL8, CXCR2, ABHD11-AS1, LIPH, IL13RA2, IL17A, TMED7, CXCL10, INSR, EPCAM, LPAR3, ANGPT1, MTDH, PTK2B, TMED10, MT1X, MIR933, AHR, AKT2, CISH, TMED7-TICAM2, TMED10P1, GSTT1, TICAM2, TEK, ALDH1A1, MST1, DCN, MSH2, FOXD2-AS1, UNC5B-AS1, HOTAIR, HLA-C, HOXA-AS2, MCM5, CYP27B1, ETV5, MDM4, HLA-DQB1, CYTOR, THRB, RASAL1, KDM1A, KLLN, PDCD1LG2, NT5C1A, STON2, DCSTAMP, SLCO6A1, PROK1, GPR151, ADAT2, E2F7, PROSER3, CLPTM1L, AFAP1L2, LIMD2, SPZ1, RTN4IP1, LMLN, CHEK1, TMEM139, FSD1L, ECRG4, XKR4, AHNAK2, FOXQ1, FAM83F, HTRA3, ABHD11, TMPRSS13, PKHD1L1, MCM3AP-AS1, SH3BGRL3, HSDL2, MAL2, ARL11, RBM45, MRGPRX3, TLR10, MRGPRX4, PRAP1, LINC01278, CYP2R1, ACBD5, CPT1C, TRIM8, HOOK3, KLF17, CHI3L1, HSPD1, WNT10A, IL17RB, LARP7, CRKL, RAB23, CREM, FXYD5, DUOX1, TLR9, CREB1, DLL4, CROT, SLC35F2, XAF1, TRIM44, GATAD2A, CPOX, PGPEP1, ELOVL2, PINX1, TUG1, PIWIL2, THAP1, RMDN3, ZNF654, LAPTM4B, IMPACT, CRY2, MBIP, IL23A, DUOX2, SETD2, DROSHA, PYCARD, CTLA4, UHRF1, TFCP2L1, CERS2, PSAT1, EHD2, CSNK1G2, CD207, NOX4, SIRT7, CSF2, TAS2R3, F11R, CSF1R, CSF1, RMDN1, HSPA14, TCEAL9, MZB1, TNFRSF12A, REV1, LGR4, SYBU, NAA15, IWS1, CXCL16, IL22RA1, ACE2, LGR6, SCOC, PROK2, MYO1G, ERAP2, SOX17, HHIP, MRPL41, CDK15, MRPL44, CCR3, TRAK2, OTUB2, MAPKAP1, FSD1, MUL1, TNFAIP8L2, LIN28A, E2F8, CKS2, TRPM3, ZNF703, C6orf47, ANKRD36B, NCOA5, TCIM, RUFY2, WDR11, ATF7IP, CHFR, AGK, COX8A, PBK, MYDGF, PDGFC, TMPRSS4, KLF6, EMSY, TNRC6C, SMYD2, CTNNBIP1, TWSG1, CEMIP, DANCR, SRGAP1, MIB1, SEMA6A, MRTFA, CNGB1, RELCH, TEKT4, MIR130A, RMDN2, GGTLC4P, MIR622, MIR625, MIR630, AMPD1, AMFR, MIR663A, LINC00460, GGTLC3, GGT2, CCR2, ALOX5, ALDH1A3, MIR608, MIR766, MIR675, ALCAM, VTRNA2-1, MIR744, MIR922, MIR940, MIR885, TNRC6C-AS1, LINC00271, CD24, ANGPT2, MIR599, MIR1915, ARAF, BMI1, BGN, BGLAP, BAX, B2M, ATP5F1E, ATF1, ARR3, MIR520A, MIR524, MIR506, RASSF10, MIR584, NORAD, CXADRP1, GGTLC5P, PAX8-AS1, APRT, APOA4, ANXA5, ANXA1, MIR564, MIR574, MIR577, MIR1183, NR0B1, CCDC80, LOC102723407, MIR4516, MIR4429, MIR5189, BANCR, ADRA2B, COMETT, NAMA, BLACAT1, SAMMSON, LINC01186, ADRA1A, LOC102724971, MIR4728, CCND2-AS1, BISPR, PARP1, CERNA3, LOC105379528, RNU1-55P, ADCYAP1R1, ADCYAP1, ADCY1, LNCRNA-ATB, H3P17, MIR4500, COMMD3-BMI1, MIR1270, MIR320E, MIR1266, MIR1271, MIR1261, MIR1179, MIR1304, AFM, MIR718, MIR761, HOTTIP, AP2A1, MIR4316, MIR3144, SNHG16, MIR3151, LINC00673, MIR3619, MIR3663, PROX1-AS1, APTR, LINC01672, LUCAT1, HOTAIRM1, TTN-AS1, DLG1-AS1, BMP4, BMPR1A, BRCA1, LINC01061, SCAI, UBAC2, RSPO2, ZNF677, GSTK1, AGRN, CDX2, KMT5A, CCL4L1, IYD, LOC390714, MIRLET7B, SNHG15, MIR106A, MIR106B, MIR125A, CDKN3, HIPK2, MIR130B, CDKN1C, CDK8, MIR143, CDK7, MIR148A, SLC26A4-AS1, RPL34-AS1, BRS3, USF3, PAQR3, C8orf37, CBLL2, OXER1, DACT2, GLIS3, NLRP6, EMX2OS, TIGIT, PRSS55, ANO5, SKA1, RSPO1, HOXA11-AS, JAZF1, GPRC6A, ZNRF2, TTTY10, FNDC5, MRGPRX1, MAGEA2B, CEBPB, B4GALNT3, LINC00514, CDK2, CDH2, MIR18A, MIR361, ZFAS1, GPR166P, MIR148B, CASR, MIR324, CASP9, MIR339, MIR346, CASP8, CASP6, MIR196B, CASP2, MIR181A2, CAMP, CALCA, CAD, CA9, MIR384, MIR422A, RGMB-AS1, MIR20B, TMEM50B, MPPED2, BUB1B, VN1R17P, NRARP, NR2F1-AS1, PRDM16-DT, MIR182, MIR190A, CD74, CD68, MIR20A, CD63, MIR203A, CD38, CD34, MIR211, MIR212, MIR214, MIR215, MIR219A1, MIR22, CD247, CD1A, MIR23A, CCNG1, MIR296, CBL, MIR31, RUNX3, ATAD2, AKAP13, CTNNA1, PTGDS, MAPK8, LRRC32, PRL, PRLR, GAPDH, GAP43, HTRA1, KLK10, PSG1, PSMD8, GAGE5, GAGE4, PTGIS, FLVCR1, GAGE1, G6PD, PTPRJ, NECTIN1, PVT1, RAD52, FUT4, FUCA1, RAP1GAP, RARB, RARRES2, RBP2, GCGR, GGT1, PRKCE, PRKAR1A, SLC26A4, PECAM1, PGM1, PHB, SERPINB5, SERPINE2, GCLC, GPC3, GLA, PIN1, PITX2, PKM, PLA2G1B, PLA2G2A, PLD2, PLK1, PMP22, PMS2, POMC, POU5F1B, PPARA, GJB2, GH1, PRKACA, PRKACG, FPR2, FOSB, RGS4, FKBP5, SLC6A9, SLC16A2, FKBP4, SOD2, SOD3, FGFR4, SOX9, SOX12, SPARC, SPG7, SPINT1, SRC, SRF, SRY, SST, SSTR4, STAT1, FGF1, STK11, STRN, SYPL1, MAP3K7, TBX1, TCF4, TBX3, SLC6A2, FOXF1, RNASE2, SLC1A5, BRD2, ROS1, RRAS, RXRG, S100A1, FLI1, S100A13, S100B, SERPINB3, SCD, SCN4B, CCL2, CCL3, CCL4, CCL5, CCL20, CXCL11, CXCL5, SDC4, SDHB, SELE, SFRP1, SHH, SHMT1, SKP2, ENPP2, GLI2, GLP1R, JUNB, CD82, KCNJ2, HOXD10, KIF5B, HOXA9, HOXA3, LAIR1, LASP1, LBR, LCN2, LDHA, HNF4A, FOXA2, HMGB2, LMO7, LOX, LOXL1, BCAM, HMBS, SMAD3, SMAD4, MAGEA2, MARK1, MC1R, MCM3, JUND, ITGB4, MAP3K5, ITGB2, TNC, HSP90AB1, ID1, ID3, IDH1, IFNG, HSPA9, IGFBP1, IGFBP7, IL1R1, IL2, IL2RA, IL4, HPRT1, IL11, IL11RA, IL13, IL18, IDO1, INS, INPPL1, IRS1, ISG20, ITGAV, ITGB1, MCM7, MEN1, PDCD1, GSN, GPX3, GRK6, NFKB1, NGF, NGFR, NNAT, NME1, NOS2, NOS3, GPR42, UTS2R, CXCR3, ROR2, NUCB2, PEBP1, PRDX1, SERPINE1, PRKN, PAX6, PC, SERPINA5, GNAS, GLS, CDK16, PCYT1A, MYH9, MMUT, MFAP1, MUC4, MGMT, CXCL9, MKI67, HLA-B, MME, MMP1, HLA-A, HK2, HIC1, MMP13, MOG, MPZ, MRC1, ABCC1, HBB, MSH3, MSMB, GUSB, MT1E, MT1F, MT1M, MT2A, MTF1, MTHFR, GSR, TCF7L2, FCGR3B, TERC, TAB1, CFD, ATG7, ARFGEF1, NPC2, TXNRD2, DECR1, PDLIM5, CXCR6, CLDN16, CERS1, POLQ, PTGES3, CHL1, FRS2, AKR1C2, HPSE, HCP5, EHD1, RAB40B, DCT, COPS6, OGFR, WDR5, ACE, HUS1, GPNMB, NQO1, ANKRD26, RAPGEF3, WSCD2, NUP93, RAB11FIP3, SART3, HDAC9, HDAC4, TRIM14, DPT, PJA2, TLK1, WDR1, FGF19, NR1I3, RBX1, SCO2, NAALADL1, PLXNC1, PSME3, TRIM13, SPRY2, STUB1, PAK4, TLR6, NDRG1, RACK1, TUSC2, CILK1, DUSP2, CYP1A1, LRIG1, DNM3, CYLD, CXADR, DGCR5, PHGDH, FGF21, EHF, BEX3, LAT, TSPAN13, DKK3, SNX5, SERP1, CUX1, HPGDS, RBMX, CTSL, CTSB, EML4, IGHV3OR16-7, IGHV3-69-1, TRBV2, TRBJ1-2, TRBJ1-1, WWTR1, BRMS1, DCK, QPCT, MMRN1, ATF6, RPIA, DAPK1, USP33, SMG1, RRS1, KAZN, CUX2, USP22, CYP19A1, ANGPTL2, HEY1, BRD4, PES1, SRRM2, PSD4, CYP2D6, AMACR, LDOC1, SNHG1, TRIM29, SLC7A11, IL17RA, RASGRP3, PRDX6, CCL4L2, FCGR3A, EPHB4, SUMO1, UGCG, USF1, EPHB1, VAV2, EPAS1, ENG, EMX2, ELK3, ELF3, TRPV1, ELAVL2, WIPF1, WNT1, EIF4EBP1, WNT7A, XRCC3, ZIC1, CNBP, TRIM26, EPHA2, EGR2, NTT, EDNRB, LPAR1, EPHB3, EPS15, ACP3, TSG101, TFAP2A, TFE3, FCER2, FBN1, FASN, TGFBR1, TGFBR2, EZH1, EWSR1, TK1, TLR1, TLR2, TLR3, TM7SF2, ETV4, ETS1, TP53BP1, TPI1, ERCC5, ERBB4, ERBB3, TPT1, CRISP2, HSP90B1, CCT3, SLC7A5, CND, TP53I3, TNFRSF10B, TNFRSF10A, E2F4, IQGAP1, SOCS2, PROM1, KSR1, CDK5R1, PER2, CCNA1, BTRC, MAP3K14, SOCS3, USP6, OSMR, BUB3, AURKB, PTTG1, CRLF1, DHRS3, STK17B, KLF4, COX5A, ATG5, ADAMTS1, PTGES, SCEL, CDC23, NAA10, BECN1, TKTL1, BAP1, CDC45, FZD1, FZD4, PLA2G6, TAGLN2, RECK, CAVIN2, CUL3, TYMP, MAP4K3, PARG, APOL1, LMO4, LGR5, CDC14B, KHSRP, PSMG1, ECE1, EIF4EBP3, E2F6, SOCS1, PDE5A, IRS2, CDR3
    • Thyroid Carcinoma, Hurthle Cell Omim
      A number sign (#) is used with this entry because Hurthle cell tumors are associated with chromosomal abnormalities or mutations in the RAS gene (190020), the PAX8/PPARG fusion gene (see 167415), or the NDUFA13 gene (609435). Description Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998). Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005). Cytogenetics Chromosomal aberrations by comparative genomic hybridization (CGH) are common in Hurthle cell neoplasms.
    • Differentiated Thyroid Carcinoma Orphanet
      A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC). Epidemiology The annual incidence of differentiated thyroid cancer (DTC) is about 1/10,000, and the incidence appears to be increasing. The female to male ratio is about 3:1. Clinical description PTC, FTC, and HCTC have similar presentations, and constitute about 75, 20, and 5 percent of cases, respectively. About 10 percent of PTC are classified as tall cell variant, the most aggressive from of PTC. HCTC is generally considered slightly more aggressive than PTC and FTC.
    • Thyroid Cancer, Nonmedullary, 1 Omim
      Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100; Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). ... Multiple endocrine adenomatosis, Gardner syndrome (175100), and arrhenoblastoma (see 138800) were excluded.
  • Thyroid Cancer Mayo_clinic
    Radiation therapy treatments to the head and neck increase the risk of thyroid cancer. Certain inherited genetic syndromes. Genetic syndromes that increase the risk of thyroid cancer include familial medullary thyroid cancer, multiple endocrine neoplasia, Cowden syndrome and familial adenomatous polyposis.
    RET, BRAF, KRAS, PRKAR1A, NRAS, FOXE1, LGALS3, CTNNB1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PPARG, PAX8, CCDC6, TAS2R38, VEGFA, PTCH1, TSHR, TPO, PTEN, TP53, TG, TERT, TPCN1, SLC5A5, LOC110806263, EGFR, CXCL8, HT, F9, AKT1, CDKN2A, CD274, MTOR, MAPK1, XRCC1, STAT3, GSTT1, SGSM3, MAP2K7, XRCC3, PROM1, EPHB2, MIR146B, CALCA, NKX2-1, TGFB1, RASSF1, NTRK1, IGF1, NOTCH1, FGFR2, MMP2, GSTM1, GSTP1, ALK, THRB, KRT19, NCOA4, MTHFR, MUC1, TNFSF10, ERBB2, HRAS, SMUG1, CYP1A1, LOX, RNH1, NFE2L2, S100A4, RELA, GDF1, SLC26A4, MAP2K1, RAF1, EGF, EZH2, HIF1A, HABP2, IL10, CYP19A1, TNF, SYT1, RUNX2, GORASP1, SHC3, WNK1, ATM, CCND1, BDNF, PPP1R13L, PTTG1IP, YAP1, TMPRSS4, PTCSC3, ZEB1, THBS1, H3P23, IL6, IGF1R, ARHGAP24, AFAP1-AS1, IFI27, IDH2, FN1, IDH1, ICAM1, FOLH1, TMED7-TICAM2, UCA1, FUCA1, PRIMA1, SNHG15, FOXA1, TCIM, HMGA1, TICAM2, GSTK1, MALAT1, MIR126, MIR21, GABPA, MIR221, SLCO6A1, SLC2A1, KDR, IQGAP1, FHIT, RARB, RAP1GAP, TP73, PTH, TPM3, TWIST1, PSMD9, VEGFC, HMGA2, RASAL1, BECN1, PKM, SLIT2, ZNF395, ZNRD2, TXNRD2, DCTN6, PAK1, CHEK2, DICER1, MYC, PATZ1, SOSTDC1, HPGDS, MET, SST, LCN2, TMED7, H3P10, ECM1, CCR6, PARP1, APC, ESR1, CD44, ALB, FGF2, SEC62, THRA, SPHK1, TFF3, TAF1, STRN, STK11, STC1, CD40, TP53BP1, SPP1, TSC2, CCND2, TXN, UBE2N, UVRAG, VCP, VDR, CAV1, VIM, WT1, CXCR4, BAP1, CDK2, CDK5, SOD3, SERPINB5, MBL2, MLH1, MMP1, MMP9, COX2, CYP24A1, NTRK3, CYP3A4, PCNA, PDCD1, PDGFRA, POU5F1, CDK4, MAP3K8, PTGS2, PTPN11, NECTIN1, RAD51, RPE65, SAI1, CCL2, SDHB, SDHD, TP63, PPM1D, PTTG1, INPP4B, MIR27A, SNHG7, CCDC80, KLB, DACT2, MIR146A, MIR148A, MIR150, MIR19A, MIR20A, MIR204, MIR205, MIR338, FGFR4, MIR375, MIR497, MIR524, POU5F1P3, POU5F1P4, GRK2, MIR625, HOTAIR, VTRNA2-1, KLLN, MTCO2P12, MUL1, NDRG2, SMURF1, GOPC, TACSTD2, IL32, KL, GDF15, BAG3, NR1D1, HDAC9, AKT3, TXNIP, PDPN, WDR3, CKAP4, BCL2, ZHX2, MMRN1, SIRT3, SIRT1, CBX7, LINC00312, ZMYND10, KRT20, FBLIM1, FAS, SMAD4, NAT2, PTK2B, DUSP6, LAMB3, DPP4, RCAN1, ESR2, HSP90AA1, TNC, H2AX, EIF4E, HDAC2, ETV6, GSTM2, EIF1AX, IGF2, GOT2, GPER1, IL4, FOS, CXCR1, FOXO3, NRG1, LEP, SASH1, PELI1, AICDA, CXCL1, INTS2, XPO5, SRGAP1, MIB1, SLURP1, SEMA6A, KLHL14, NCOA5, ANKRD36B, HAMP, CXCL16, OGFR, FABP4, UBE2C, ACE2, MREG, ZNF654, FBXW7, LGR4, RNF139, SAGE1, IL17RB, HIF1AN, WDR11, MR1, TMEM184C, PAG1, USE1, AR, AQP4, BCAT2, PCBP4, IL21, LGR6, ATG16L1, ULBP2, RHBDF2, VTCN1, TCEAL4, WLS, FHOD3, GADD45G, PPP1R2C, LIMD2, ALX4, SPRY4, GPX3, RASSF5, FAM107B, FSD1L, MRO, ING5, TCTN1, GRB14, BHLHE41, FSD1, SDS, GAS5, C14orf93, TINAGL1, SOX17, INF2, HMGB1, KLK3, CREB3L2, MARCKSL1, APRT, FRTS1, UBE2Z, GGCT, MAPKAP1, PIWIL2, RASIP1, TUG1, LAT, LRIG1, POLDIP2, NOC2L, FGF21, EHF, FOXD3, NOX1, TSPAN13, BAAT, DKK3, SNX5, IL37, ARSA, ARR3, RGCC, HIPK2, ATF1, POT1, RNF19A, DKK1, SIRT4, HGF, NEMP1, ANGPTL2, HDAC1, LPAR3, ATP5F1E, ATIC, SNHG1, PPP1R15A, TRIM29, TBC1D9, PRDX5, METTL7A, ABI3BP, PYCARD, RHOA, TFCP2L1, CXXC5, IL23A, GINS2, WWOX, ARG1, ARAF, FXYD5, CPSF2, ERRFI1, MIEF1, GYPA, SLC35F2, ETFA, TRIM44, GATAD2A, SYTL2, SIRT7, REV1, HLA-G, SLCO2B1, COPZ1, TDGF1P6, OBP2A, SPANXA1, ADGRE2, STOML2, DUOX2, NOX4, DELEC1, IL22, F11R, FOXP3, ARG2, NDUFA13, SDF4, DNMT1, RTN4IP1, PROK1, NR2F1-AS1, VN1R17P, ZFAS1, GPR166P, MIR326, MIR330, MIR335, GAPDH, MIR340, MIR369, MIR370, MIR361, GAP43, MIR383, DUXAP9, MIR429, MIR451A, AFM, NRARP, MIR7-3, FYN, MIR7-2, MIR211, MIR212, MIR214, MIR217, MIR218-1, MIR218-2, AHR, MIR222, MIR25, MIR26B, GAS6, MIR296, MIR299, MIR30A, MIR30D, MIR34A, MIR7-1, FAP, MIR510, CARD11, MANCR, MIR4319, PROX1-AS1, CCAT1, MICA, SPRY4-IT1, FALEC, OPCML-IT1, BANCR, LINC00210, FOXD3-AS1, PANDAR, DARS-AS1, PTCSC2, LINC01410, FOXM1, ACVR1B, ACTB, PARP4, MIR1225, FGF3, FLT3, RASSF10, FRA16D, PARP4P2, LOC646736, FOSB, CXADRP1, MIR539, MIR592, MIR622, MIR639, MIR650, SSX2B, UNC5B-AS1, FGF13, FGFR1, MIR873, TNRC6C-AS1, MIR206, GDNF, GEM, ANXA5, GPR151, ANXA1, MUC15, ANPEP, SPC24, HORMAD2, GPD2, CBLL2, DEUP1, SLC5A8, OXER1, ZCCHC12, ZNF367, METTL7B, FLCN, ANO5, DIPK2A, PPARGC1B, LRRK2, GH1, MRGPRX4, ANXA6, FOXD2-AS1, HCP5, MASTL, GPX1, MIR22HG, MTDH, DNER, PKHD1L1, PRDM6, PRRT2, CYTOR, LINC00313, LMTK3, VASN, NIBAN1, MRGPRX3, USF3, UNC5B, GPRC6A, CTAG1A, MIR132, MIR137, MIR139, MIR143, MIR145, GNAS, GPC3, GJB3, MIR154, MIR15A, MIR17, MIR18A, MIR182, MIR184, MIR196A2, MIR197, GHRH, ALDH1A1, MIR125A, MIR106B, ZNF677, CASC2, MRGPRX1, NEAT1, AMH, ATG9B, CLEC4D, RSPO2, AMBP, MIR106A, BMP8A, ALOX15, ALOX12, IYD, LINC01194, MIRLET7C, MIR100, ERCC5, HMOX1, LILRB1, PTMAP4, PTPN2, JUND, PTPRF, PTPRJ, JUNB, JUN, RAD52, ITGAM, RAP1B, CLU, RCC1, RASGRF1, RBBP4, OPN1LW, CETN1, CEACAM5, RGS4, PTMS, PTMA, PRKAB1, CD82, PRKCA, PRKCB, PRKCQ, PRKDC, CRYGD, MAPK3, MAPK8, CRK, CREBBP, EIF2AK2, PROX1, DUSP4, COL11A2, COL1A1, CNTN1, PTGDS, CCR7, RLN2, RNASE1, RNASE3, CDKN2B, ILK, SLC6A9, SLC7A1, SLC16A2, SLIT3, SNAI2, HLTF, SNAI1, IL18, SORD, SOX9, SOX11, SPG7, IL17A, SRC, SRP72, IL13RA2, IDO1, SLC1A3, SKP2, S100B, ABCE1, ROS1, ITGA3, RPL36A, S100A1, SORT1, CDKN1B, IRS1, SHH, SCN10A, IRF5, CCL15, CCL20, INSR, CXCL10, SGK1, CRYZ, PRKAA2, SSX2, MKI67, DNMT3A, NQO1, MMP7, LASP1, MMP11, MMP14, MRC1, ABCC1, CITED1, MST1, MT1A, MT1G, MT1M, CYB5R3, MYO1F, DECR1, MUTYH, LDHA, MGMT, PRKAA1, KITLG, LIMK1, SARDH, LOXL2, LPA, LRP4, BCAM, LGALS1, EPCAM, SMAD3, LETM1, MC1R, MCL1, MCM7, MDM2, MEN1, DIAPH1, MFAP1, MVD, DDT, MYCN, MYH9, CXADR, PECAM1, PEG3, PGR, ABCB1, SERPINA1, KIR3DL1, CTLA4, CCN2, CTAG1B, CSF1R, PITX2, CSF1, KIR2DS5, POU5F1B, MAPK14, PPP6C, KISS1, KIT, KIF22, NOVA1, NCAM1, DDIT3, NFIL3, NFKB1, NNMT, AKR1C2, NOTCH3, ACE, SERPINA5, NRCAM, L1CAM, TNFRSF11B, PA2G4, PAEP, PRKN, PCBP1, SSTR3, CDH6, HPSE, SPAG9, SLC16A4, SLC16A3, CCNE2, HSPA9, PDLIM7, S1PR2, MMP20, TRIP13, BRCA2, UBE4A, HSPA5, GRAP2, ABCG2, GSTO1, MAP4K4, ELK1, HPT, CLDN1, SOCS3, BUB1B, AKAP4, ID3, AGPS, BHLHE40, MADD, ID1, PTCH2, NCOA1, BUB1, PEA15, CDC23, MBTPS1, BTG1, RAB11A, ELF3, KLF5, BSG, KSR1, HOXC10, CLOCK, HNRNPF, RASSF2, SPRY2, CITED2, BASP1, BMP4, HMGN4, SEC23B, CIB1, BMP1, NPC2, BLM, AHSA1, ERCC2, LIG4, POSTN, IGF2BP3, BID, CEACAM1, CTDSPL, TRIM13, PSME3, NR1I3, EIF4A3, TOMM20, KEAP1, PJA2, ZBTB5, FGF19, MED12, RBX1, PDZK1IP1, REC8, HNRNPD, HDAC6, ABCB6, HUWE1, NAMPT, AKAP9, TTF2, CAVIN2, DUSP5, TIAM1, TIMP3, TIMP4, CD40LG, IL1B, ABO, IL1A, IGSF1, CD34, MS4A1, CD3D, TRPC1, TSC1, IGFBP7, TSG101, CCNG2, TTF1, IGFBP4, TIMP1, IL1R1, RECK, IL2, STK3, STK4, CXCR2, CDH5, TBX1, TAZ, TBX15, TCF3, CDH1, TCP1, TEK, TEP1, ADGRE5, TFAP2B, CD74, CD68, CD63, IGFBP1, TXNRD1, UCHL1, UPP1, YY1, ZIC1, ZNF20, BTG2, CASP8, IL1R2, AIMP2, CAMP, DDR1, SHOC2, TSPO, IFT88, SLC7A5, TKTL1, ELAVL1, FZD4, FZD8, YES1, XRCC5, XRCC4, IFNA13, USF1, USF2, EDN1, EFNB2, VDAC1, IFNG, RUNX3, VHL, CASR, EZR, IFNA1, WIPF1, WRN, XIST, CAT, XRCC2, FH
  • Breast Cancer Wikipedia
    Cancer that originates in the mammary gland Breast cancer Mammograms showing a normal breast (left) and a breast with cancer (right) Specialty Oncology Symptoms A lump in a breast, a change in breast shape, dimpling of the skin, fluid from the nipple , a newly inverted nipple, a red scaly patch of skin on the breast [1] Risk factors Being female, obesity , lack of exercise, alcohol, hormone replacement therapy during menopause , ionizing radiation , early age at first menstruation , having children late in life or not at all, older age, prior breast cancer, family history of breast cancer, Klinefelter syndrome [1] [2] [3] Diagnostic method Tissue biopsy [1] Mammography Treatment Surgery , radiation therapy , chemotherapy , hormonal therapy , targeted therapy [1] Prognosis Five-year survival rate ≈85% (US, UK) [4] [5] Frequency 2.1 million affected as of 2018 [6] Deaths 627,000 (2018) [6] Breast cancer is cancer that develops from breast tissue. [7] Signs of breast cancer may include a lump in the breast, a change in breast shape, dimpling of the skin, fluid coming from the nipple , a newly-inverted nipple, or a red or scaly patch of skin. [1] In those with distant spread of the disease , there may be bone pain , swollen lymph nodes , shortness of breath , or yellow skin . [8] Risk factors for developing breast cancer include being female, obesity , a lack of physical exercise, alcoholism , hormone replacement therapy during menopause , ionizing radiation , an early age at first menstruation , having children late in life or not at all, older age, having a prior history of breast cancer, and a family history of breast cancer. [1] [2] About 5–10% of cases are the result of a genetic predisposition inherited from a person's parents, [1] including BRCA1 and BRCA2 among others. [1] Breast cancer most commonly develops in cells from the lining of milk ducts and the lobules that supply these ducts with milk. [1] Cancers developing from the ducts are known as ductal carcinomas , while those developing from lobules are known as lobular carcinomas . [1] There are more than 18 other sub-types of breast cancer. [2] Some, such as ductal carcinoma in situ , develop from pre-invasive lesions . [2] The diagnosis of breast cancer is confirmed by taking a biopsy of the concerning tissue. [1] Once the diagnosis is made, further tests are done to determine if the cancer has spread beyond the breast and which treatments are most likely to be effective. [1] The balance of benefits versus harms of breast cancer screening is controversial. ... Indications of breast cancer other than a lump may include thickening different from the other breast tissue, one breast becoming larger or lower, a nipple changing position or shape or becoming inverted, skin puckering or dimpling, a rash on or around a nipple, discharge from nipple/s, constant pain in part of the breast or armpit and swelling beneath the armpit or around the collarbone. [20] Pain (" mastodynia ") is an unreliable tool in determining the presence or absence of breast cancer, but may be indicative of other breast health issues. [17] [18] [21] Another symptom complex of breast cancer is Paget's disease of the breast . This syndrome presents as skin changes resembling eczema; such as redness, discoloration or mild flaking of the nipple skin. ... The risk is not negated by regular exercise, though it is lowered. [50] There is an association between use of hormonal birth control and the development of premenopausal breast cancer, [32] [51] but whether birth control pills actually cause premenopausal breast cancer is a matter of debate. [52] If there is indeed a link, the absolute effect is small. [52] [53] Additionally, it is not clear if the association exists with newer hormonal birth controls. [53] In those with mutations in the breast cancer susceptibility genes BRCA1 or BRCA2 , or who have a family history of breast cancer, use of modern oral contraceptives does not appear to affect the risk of breast cancer. [54] [55] The association between breast feeding and breast cancer has not been clearly determined; some studies have found support for an association while others have not. [56] In the 1980s, the abortion–breast cancer hypothesis posited that induced abortion increased the risk of developing breast cancer. [57] This hypothesis was the subject of extensive scientific inquiry, which concluded that neither miscarriages nor abortions are associated with a heightened risk for breast cancer. [58] Other risk factors include radiation [59] and circadian disruptions related to shift-work [60] and routine late-night eating. [61] A number of chemicals have also been linked, including polychlorinated biphenyls , polycyclic aromatic hydrocarbons , and organic solvents [62] Although the radiation from mammography is a low dose, it is estimated that yearly screening from 40 to 80 years of age will cause approximately 225 cases of fatal breast cancer per million women screened. [63] Genetics [ edit ] Genetics is believed to be the primary cause of 5–10% of all cases. [64] Women whose mother was diagnosed before 50 have an increased risk of 1.7 and those whose mother was diagnosed at age 50 or after has an increased risk of 1.4. [65] In those with zero, one or two affected relatives, the risk of breast cancer before the age of 80 is 7.8%, 13.3%, and 21.1% with a subsequent mortality from the disease of 2.3%, 4.2%, and 7.6% respectively. [66] In those with a first degree relative with the disease the risk of breast cancer between the age of 40 and 50 is double that of the general population. [67] In less than 5% of cases, genetics plays a more significant role by causing a hereditary breast–ovarian cancer syndrome . [68] This includes those who carry the BRCA1 and BRCA2 gene mutation . [68] These mutations account for up to 90% of the total genetic influence with a risk of breast cancer of 60–80% in those affected. [64] Other significant mutations include p53 ( Li–Fraumeni syndrome ), PTEN ( Cowden syndrome ), and STK11 ( Peutz–Jeghers syndrome ), CHEK2 , ATM , BRIP1 , and PALB2 . [64] In 2012, researchers said that there are four genetically distinct types of the breast cancer and that in each type, hallmark genetic changes lead to many cancers. [69] Other genetic predispositions include the density of the breast tissue and hormonal levels. ... The familial tendency to develop these cancers is called hereditary breast–ovarian cancer syndrome . The best known of these, the BRCA mutations , confer a lifetime risk of breast cancer of between 60 and 85 percent and a lifetime risk of ovarian cancer of between 15 and 40 percent. ... The inherited mutation in BRCA1 or BRCA2 genes can interfere with repair of DNA cross links and DNA double strand breaks (known functions of the encoded protein). [86] These carcinogens cause DNA damage such as DNA cross links and double strand breaks that often require repairs by pathways containing BRCA1 and BRCA2. [87] [88] However, mutations in BRCA genes account for only 2 to 3 percent of all breast cancers. [89] Levin et al. say that cancer may not be inevitable for all carriers of BRCA1 and BRCA2 mutations. [90] About half of hereditary breast–ovarian cancer syndromes involve unknown genes. Furthermore, certain latent viruses, may decrease the expression of the BRCA1 gene and increase the risk of breast tumors. [91] GATA-3 directly controls the expression of estrogen receptor (ER) and other genes associated with epithelial differentiation, and the loss of GATA-3 leads to loss of differentiation and poor prognosis due to cancer cell invasion and metastasis. [92] Diagnosis [ edit ] Most types of breast cancer are easy to diagnose by microscopic analysis of a sample - or biopsy - of the affected area of the breast.
    BRCA1, BARD1, PIK3CA, BRCA2, ESR1, TP53, CDH1, CAV1, PTEN, ERBB2, CHEK2, BRIP1, PALB2, ATM, EP300, FGFR2, AKT1, KRAS, RAD54L, PARP1, ROR1, STAT1, FOXA1, ESR2, NOS2, CASP8, AKT2, FGFR1, NOTCH1, HRAS, RB1, CDKN1B, FGF3, NCOA3, FBXW7, PPM1D, FN1, RAD51, IGF1, MMP1, MDM2, NQO1, PHB, PTHLH, AR, BAP1, GATA3, TBX3, FLT1, NOTCH2, GPNMB, RB1CC1, FGF4, IFNB1, PLA2G4A, NCOR1, PDPK1, ZNF366, MYH9, ADAR, SREBF2, ICAM5, APC2, GRIK2, STARD8, NRCAM, TOX3, MSH6, NBN, ERBB4, ABCC1, RAD51B, MDM4, FTO, ZNF365, COL7A1, ZNF432, NOP9, ARID1B, LSP1, CDKN2A, HOXB13, HADHB, LGR6, STXBP4, ZMIZ1, OLA1, NR2F6, SORBS1, YBX1, GPX1, XRCC3, AURKA, XRCC2, NAT2, CXCR4, GRB7, RECQL, CXCL12, SNAI2, GJA1, PIN1, KLK10, STMN1, BCL2, CCND1, DKK1, RAF1, XBP1, CAT, BAX, PHGDH, PIK3CB, MIR29A, GPER1, BMP2, MIR206, BRAF, BCAR1, ABCG2, MIR222, MIR221, GLI1, MIR214, APOBEC3B, ADAM12, CCNE1, WWOX, BMP4, MTDH, MIR200C, MIR200B, ZEB1, LOXL2, LEPR, LEP, SNAI1, AGR2, SULT1A1, WT1, CYP1A1, IFNG, PTGS2, ETV4, EZH2, CXCL8, TYMS, F3, CYP24A1, CYP19A1, CYP17A1, PAEP, CYP3A4, IL6, CYP2D6, IL24, ZEB2, CYP1B1, THBS1, FASN, TGM2, JUN, IL10, ESRRA, SLC2A1, E2F1, UBE2C, EGFR, EGF, TOP2A, SLC5A5, EDNRA, TP53BP1, TP73, IDO1, ERBB3, TNF, ABCB6, EPHB4, PAK1, DNMT3B, DNMT3A, SERPINB2, DNMT1, CTNNB1, KEAP1, CST6, RAD51C, COMT, IGF1R, TFAP2A, SNCG, MIR10B, YAP1, MIR126, KRT5, TERT, FOXM1, FOS, MIR141, MIR145, MIR146A, SERPINB5, CHEK1, MTOR, SFRP1, VIM, VEGFC, IL1B, TFRC, SLC39A6, FOXP3, MALAT1, CSF3, CSF2, CSF1R, CSF1, SIRT1, KDR, NISCH, PGR, IGFBP7, IGFBP5, ABCB1, CLDN4, VDR, BCAR4, NDRG1, BAG1, MIR205, NOTCH3, ABL1, H2AX, ADAM10, APRT, MST1, CLDN1, MMP9, NCOA1, PRKAA1, SETD2, AREG, TNFSF10, PRKAA2, STAT5A, INPP4B, GSTP1, HPSE, PDCD4, JAG1, SPP1, MAP3K1, ARID1A, RARB, MMP14, STAT3, NOS3, MTR, MKI67, MMP3, MMP2, HSP90AA1, AHR, NRG1, HRG, HIC1, HIF1A, MRE11, RARA, SOD2, SRC, MTHFR, MAP2K7, NOTCH4, NHS, BCAR3, APC, GSN, HMOX1, ETS2, TUBB3, PER2, KCNIP3, CUX1, NF1, ADRA1A, WNK1, PPARGC1B, RELA, TEK, DHFR, KIT, MIR342, SLC2A5, ANKRD30A, IKBKB, CADM1, MIF, MIR152, HMMR, NRIP1, SLCO1B1, SFRP2, KRT8, HES1, APOBEC3A, EMSY, RPS6KA3, MIR429, EPOR, DDX3X, FLNA, GPI, LEF1, TXN, RNF115, PIM1, CD40, FABP4, FST, ATF2, LAMTOR5, ALK, MIR127, RASAL2, CDH5, PLXNB1, PER3, SLC22A18, KDM3A, CXCR5, MIR301A, MAP2K4, PTGS1, RBM3, CPT1A, DLL4, KCNH1, CD74, PRC1, MIR489, CFL1, NET1, DLEC1, NCOA2, BIRC5, H19, ENO1, SGK3, KRT14, NF2, TOP1, MME, KRT18, MIR132, PER1, TIMELESS, C1QBP, RAPH1, FHL2, TFPI2, NR2F1, ATP2A3, MIR10A, CCL20, HP, MFGE8, NEDD4, PFKFB4, JMJD6, FOLR2, SULF2, WNT10B, FGF10, GPX4, SLC16A3, STC2, DDIT3, BCL2A1, HOXB9, RPS6KB2, OCLN, ABRAXAS1, EIF4A2, LHCGR, SHMT1, PRDX5, FLNB, RPS6, GAB1, PBRM1, LDHB, GZMB, MYOD1, BCHE, KMT2D, CDKN2C, CLSPN, FOXQ1, PDLIM7, GPX2, ARRDC3, MSI1, CLCA2, CSNK1D, ACHE, DEK, ECT2, PLD2, ADAMTS1, NORAD, DPYD, ELK3, H6PD, PTPRC, THEMIS2, FKBPL, PLS3, TACC2, AKAP9, CENPF, CNR2, NAA25, SERPINE2, SLC35A2, GPC1, ROBO1, HDAC4, MAL, ABCA4, BIRC2, BMPR2, XDH, RRAD, CBFB, CXCL9, CLIP1, FABP7, ARFGEF2, TNIP1, HDLBP, TENM1, MED28, SFRP5, EFNA1, DSC3, BCL11A, NFKBIA, TMPRSS6, SLCO2B1, SRARP, RARG, EXO1, APCS, NQO2, ACVR1, ERCC6, MAOA, ANGPTL4, FBL, HDAC7, ADAM33, TRIM29, CDC27, HHEX, MECOM, AKAP12, EPB41L3, LPAR1, OCA2, GABRP, CDA, CUL5, IRF8, LIMD2, DES, KLK15, ARF1, SRSF1, SLC2A2, NSD2, RGS2, GSDMB, EREG, ENPEP, PPM1E, FOXP4, LLGL2, EFEMP1, MTMR3, EIF2S2, NUP214, AMFR, MAGEA4, PCDH8, FGD5, MIR101-2, DDX10, BTK, REPS2, ARAP3, ZNF404, TP53BP2, PLCB1, EHMT1, MEIS1, HSD11B1, MAP3K13, FBXO8, NCOA6, ATG10, CASP7, BGN, CHD5, CIC, TCL1B, ACCS, FAAH, CTU1, NUP98, ARHGDIA, TCP1, MICAL1, FUS, PDCD6, H4C1, EDNRB, SEMA3A, MMP10, RPS4X, AFP, DLL1, MIR24-2, ABCB10, UTS2R, MFAP5, CDH2, IFNA2, DIP2C, DAP3, GEN1, ZFYVE26, UMPS, KCNA5, CLPTM1L, CFP, SUV39H2, SLC2A10, SLC10A6, BCORL1, DMD, BTN3A2, HNRNPK, HNRNPL, PTPN14, HOXA4, GPC2, HEY2, SUSD3, PTPRD, ACADM, DVL3, TICAM1, ZNF569, MAGEC2, B3GALNT2, SLC6A3, MT3, NDUFS3, TEKT4, ERCC3, DIO3, P3H2, NIPBL, PRRT1, ZNF436, ARHGAP11A, HLCS, FLACC1, JAG2, AHSA2P, SIM1, PDZK1, ZC3H11A, SLAMF1, SRGAP3, SPATA18, G3BP2, MACF1, NSMCE2, AKAP8, MED12, RIC8A, ADHFE1, PDGFA, DEPP1, SLC28A1, RMND1, HEYL, IBSP, RSPO3, SLC6A5, DOP1A, AQP8, PRODH, CFL2, MAGEA1, HELQ, RPRD1A, POU2F1, RXRB, RPS9, WARS1, LBX1, BMP1, GALNT16, COTL1, MRPS23, ASL, DHX32, ZNF668, SCP2, TP53I3, HSPA1B, CCNH, PPA1, ELP3, TRERF1, H2BC4, RCCD1, SPAG6, TBXAS1, LIPE, UBD, SIK3, KAT6B, VWF, MNX1-AS1, PRPS1, TREM1, MIR31HG, MAGED2, MCF2L2, CXCL3, RAC2, SYNJ2, APPL1, VEGFB, CRHR1, LRRC3B, MANEA, PRPF4B, GRIK3, CEP85L, COL11A1, EPG5, NMBR, TAS2R13, GKN1, HERC2, SMC6, INPP5K, MACIR, C16orf58, HEY1, RUFY1, SMARCD1, EIF5, CELA1, SPTLC1, SLC9A2, FNDC3B, CXCL2, SYT3, TLL1, NLE1, SMARCA4, GRIN2D, GDF10, SPAST, ZNF541, EVL, HOXA3, GRM6, TSPAN4, STX5, NECTIN2, PLEKHA8, GOLGB1, ANKRD29, NOA1, FARP1, SURF1, RAP1GAP, RFC4, MICALL1, LZTS2, B4GAT1, NPBWR1, L3MBTL3, STX12, DYNC2H1, MFSD9, TMEM25, UNC45B, SLC8A3, HOOK3, NFYC, ABHD12B, POP1, GNAI2, TMTC4, WDCP, SMOX, H2BC12, KBTBD8, SIX4, RANBP1, ARHGEF38, ZBTB3, LMF2, STPG1, PKDREJ, OSBPL11, SORCS1, HGF, GNB1L, THBS3, FCRL5, TESK1, UGT1A9, TCF7L1, IGBP1, FAM83F, ADAT3, HOXD11, DDX59, COG3, TECTA, CPSF3, EIF3M, ZNF281, FCRL3, PCDH20, PIGS, TMEM125, TSC22D4, MRPL9, CFHR5, FAM189B, DNAJC24, HK3, EFCAB13, SORL1, FAM210A, SCGB3A2, NLRP8, WDR88, FKTN, KLHDC7A, AGAP2, OR12D3, C1orf87, PPHLN1, ZNF318, INHBE, H1-2, GTF2A1, SPTAN1, CD109, ARFRP1, ALKBH8, BOC, MPLKIP, PHF7, RASL10B, RALYL, LONRF3, SCARF2, ZNF644, SEMA5B, NLRC5, FASTKD3, PUS1, SPOCD1, TMEM39A, TLE3, HNRNPR, SLC25A51, FSCB, TFAP2D, UBLCP1, FAM131A, TXNDC15, METTL6, RTP1, TRMT10A, VPS72, RASGRF2, OBSCN, LDHAL6B, G6PC, GUCY2F, STAT4, GABRA4, PADI3, GUCY1A2, ATP6AP1L, TMED1, DNAJC21, SP110, SLC22A9, OR1N1, DTX3L, PHKB, CLCN1, CLIC1, ZNF532, KPNA5, GALNT5, MAGEE1, CNGA2, ZSWIM5, PPP1R12B, OXSM, ZFP64, SHROOM2, ZNF646, ABCB8, SMARCAL1, PDZD4, SPATA21, KANSL1-AS1, GPR45, CDS1, KIAA1324, PIK3R4, LRRC7, LAMA2, NUP133, WNT1, KTN1, MET, PPM1F, TRMT2A, CHRND, ARAF, YY2, HAPLN4, MRPL13, KRTAP10-8, SETBP1, ITSN2, OSTC, ZNF277, ARHGEF4, CRX, SIPA1L1, COL19A1, CDH20, CRYAA, KCNJ15, C5orf34, PRRC2A, MROH7, LINC00671, KALRN, C4orf50, GFRAL, WFDC1, MRPS28, NUDT2, ACAP1, ARTN, PPP1R3A, SLC7A7, PLEKHD1, APOC4, MAP3K6, MIA2, WBP4, N4BP2, INA, VPS39, EOMES, MYH1, FEM1C, SLC17A6, MIR345, IL1RAPL2, CCT5, PURG, SCNN1B, MOSPD1, MAN2C1, TBC1D9B, LRRC37A2, PANX2, PLAU, MCOLN1, ARFGAP3, UBR4, CMC2, ZDHHC4, KLHDC10, CUBN, MRPS22, OTOF, ARHGAP29, C1QB, AKAP6, CNNM4, MYC, PLOD1, SPEN, KDM1A, ZNHIT2, FXR1, PCDHB15, RRP9, LGALS2, LRBA, LRRFIP1, TOR1AIP1, POLH, AVPR2, GGA1, POLR2F, PRICKLE3, ATP7B, NID2, ATP6V0B, CDH10, COLGALT2, DYSF, PRRG1, PCDHGB6, PABPC1, RIBC2, TAFA4, MAGOHB, RIF1, SYNE1, FRMPD1, ZNF22, LLGL1, ZNF75A, DAZAP1, PNLIPRP1, MED14, CD2, TRAPPC8, GGA3, KCNJ1, RHD, SH2D3A, TRPC4, DNASE1L3, NME8, BEND7, PXDC1, DPAGT1, RNF182, HEPACAM2, KIF6, EHBP1, RPL31, ADGRF4, NSUN6, SLC39A12, DNAH9, ACTA2, PGBD3, MAP7D2, MRPL19, RGL1, ALS2CL, CATSPERE, ITGA9, HEATR9, TTC3, HSPA14, ACY1, TANK, SNX32, RPLP2, NDUFA3, THOC5, ZNF438, ACO2, ZNF25, EEF2, SSNA1, GPR180, ABCA3, USP54, EEF1B2, RFX2, SYNE2, KRT76, MAMDC4, VPS13B, TNS1, EGR1, RPL23A, ASTN2, FAM217B, TP63, DAW1, ANKEF1, TPM4, ANAPC5, XIRP1, TPTE, GIMAP1, ADAMTS19, NIP7, DTX3, PACC1, UQCC1, NDUFA8, NUDT17, HOOK1, BOD1L1, RCE1, CNTN6, MRPS7, ALDOA, CLUL1, KCNT2, TMEM161A, TREML1, TRIML1, ELP1, KRTAP21-1, ZNF546, RPS7, NDUFA2, DGKE, NLRP14, STRBP, UPK1B, DDX18, CUTC, ZNF667-AS1, TAX1BP1, CTU2, AP1M1, RPS8, ATP8B1, AFF1, MTMR8, KIF16B, ANK1, WDR53, CST4, CTIF, ANK2, NLRP9, TRAPPC12, TRMT11, DGKG, JAKMIP3, PDE2A, CYB5R4, OTOGL, EXOC3L1, CAVIN1, ZCCHC14, SKIV2L, ANKRD34A, APOL1, GOLIM4, DBN1, CLASRP, RNF149, EIF6, LRRC37A, KRTAP20-1, H2AC21, DDO, HSD17B8, SBNO1, UTP20, THRB, ETV6, ESPL1, TCF7L2, ADSL, CASC16, MSH2, MRTFA, MLH1, MUTYH, SLC19A1, PVT1, PRSS46P, SLC4A7, TGFBR2, RET, CCDC170, PMS2, TET2, COL1A1, SIAH2, ITPR1, ARHGEF5, CASC9, RNF146, TAB2, BABAM1, ANKLE1, EBF1, CDKN2B-AS1, FANCI, PEX14, HSPG2, RALY, PDE4D, POU5F1B, DCLRE1B, CCDC88C, ELL, ADAM29, CASC8, FBXO11, SLC22A3, SOAT1, BRCA3, SLN, SMUG1, IL4, ZNF410, MMP13, MMP11, TBC1D9, JAK2, MMP8, MMP7, HSD17B1, IL2, NCL, NLRP2, CCN1, JUNB, JUND, COPS5, SHBG, MRPL34, IL1A, TRPM7, MUC1, CD82, NEU1, SIX1, IL17RB, IL17A, REN, TNIP3, HEATR6, MT1E, IL15, PGRMC1, RPE65, SOX9, IL18, RPS6KB1, SLC9A1, BRD4, IRS1, SOX17, CXCL10, ITGA6, INSR, COX2, GAS5, IL11, CXCR2, SKP2, MPO, MEG3, RASSF1, SLC16A1, SOX2, ITGB3, NEK2, LILRB1, HPGD, ITGB1, SOX4, MRC1, LAPTM4B, NME1, MSH3, TRNE, MTRR, IGFBP3, RRAS, ROS1, LPA, MAPT, RETN, S100A9, CCL2, S100A8, S100A7, S100A6, S100A4, LOX, MCPH1, CCL5, LNPEP, CCL18, VTCN1, HTC2, LMNA, MCAM, IFI27, BECN1, NFKB1, MGMT, SMAD3, UGT1A1, MUL1, MYBL2, EPCAM, SUB1, SLC12A9, SLC52A2, SMAD2, SMAD4, S100B, SATB1, TNC, ACKR3, SCD, MYB, ABHD8, MYD88, FSD1, CCL21, MCL1, LIG4, ANO8, SET, SEMA6A, PREX1, KRT19, MFAP1, DDA1, CIP2A, RRM1, IGF2, SLC52A1, KISS1, SCGB2A2, IGF2R, HSF1, ICAM1, RNASE3, BANP, IGFBP2, SELE, INTS2, LASP1, HSPA4, MYO9B, SIRT3, NGF, LIN28A, SDC1, CKAP4, LGALS3, NFE2L2, HSPB2, HSPB1, LGALS1, SHROOM4, LDHA, LCN2, PHB2, PPARGC1A, HSPA5, DICER1, NAT1, SP1, MIR29B1, MIR34A, MIR31, MIR30C2, CASP3, MIR30A, NPEPPS, CASR, RUNX2, RUNX1, PSMD9, MIR29B2, RUNX3, MIR27B, CMA1, CCK, MIR27A, ZNF217, PLAT, CCNB1, PSAT1, CCND2, PLAG1, MIR223, MIR22, NR1D1, CLOCK, PLG, BTG2, CALR, MIR93, MIR373, PPIG, KL, PML, MIR340, CD274, SLC9A3R1, ADIPOQ, BSG, PSG2, MIR335, KLF5, COX5A, BTF3P11, GRAP2, CAPN5, GSTO1, AIMP2, CA9, CA12, USP7, CALCB, CALCR, MIR96, PLK1, MIR210, MIR21, NCOR2, XPC, CDKN1A, PIK3R1, CDKN2B, PIK3CG, PIK3CD, CEACAM5, MIR182, MIR18A, CEACAM3, CEACAM7, MIR17, IKBKE, SERPINB6, MIR155, WNT5A, MIR148A, CHI3L1, CHKA, MIR143, MIR142, MIR140, CISH, CKS1B, MIR139, SPARC, PTH, CDK6, CD34, CDK4, CD36, MIR204, MIR203A, ZFP36, CD44, CD47, TRAF4, CD68, MIR200A, MIR20A, CD151, CDK1, MIR19B1, PKM, KLK4, CDC25A, MIR195, PITX2, CDC42, ERVW-1, XRCC4, PIP, MIR191, CDK2, XRCC1, BMP7, BMP6, FOSL1, PCAT1, ERVK-20, COMMD3-BMI1, LMO4, ADRB2, MAPK3, MAPK7, MAPK8, TMED7-TICAM2, AGER, AGT, AGTR1, NR1I2, ALB, ALCAM, ALDH1A1, CD24, PGAM1P5, SPHK1, AKR1B1, SQSTM1, HOTAIR, AMH, MBD2, MCAT, DIRC3, MAPK1, ERVK-18, PTPA, LINC-ROR, PRKCB, H3P10, H3P23, EIF3A, IRS2, PRKCA, DKK3, ABO, TNFRSF11A, ERVK-32, MTCO2P12, TNFRSF10B, TNFSF11, ACTB, PRKAB1, DLX2-DT, NRP1, LINC01488, LINC01527, LINC02143, LINC01416, PRKDC, ADH1C, HPGDS, ADM, CCR2, ANGPT1, BMI1, AXIN2, POU5F1, MIR499A, ATF3, MIR497, PROS1, LPAR2, PON1, TAM, ATR, HACD1, MIR20B, BACH1, RNU1-1, PTTG1, KLK6, BCL6, KLF4, HMGA2, MIR375, BDNF, CD163, CEACAM1, SLIT2, PSEN2, BLM, NEURL1, STS, ANGPT2, POU5F1P3, HSPB3, SGSM3, ANXA1, ANXA2, ANXA5, ANXA6, FOXP1, SOCS3, APEX1, XIAP, MCTS1, PELP1, APOE, PRL, KLK3, FAS, CLDN6, PRLR, DIRAS3, UCA1, PPARG, MTA1, EMBP1, POU5F1P4, PPARA, POLDIP2, CLU, CCR5, AGO2, NR5A2, MUC16, CAP1, FUT4, ODC1, CARM1, XRCC6, GABPA, GAPDH, MYBBP1A, CIB1, RAD51D, ZNRD2, PAK4, GH1, GHRH, TAZ, CXCL13, MAP3K7, ABCC11, GLS, ADAM17, NTRK1, TAC1, ARFGEF1, NT5E, PRRT2, PRMT5, OGG1, FOSB, EMID1, TGFBR1, FDXR, FEN1, FGF1, FGF2, SPDEF, FGF7, CDYL2, RAC1, FGFR4, TGFB1, TGFA, FHIT, MUCL1, OSM, TFF1, DLC1, GDE1, FOXC1, ANIB1, TFAP2C, FOXO1, FOXO3, TNFRSF11B, SYK, SFN, AHSA1, HDAC1, KHDRBS1, HFE, SSTR4, CXCR6, SST, HK2, HLA-A, CTCF, NECTIN4, DCTN6, HLA-G, COL18A1, HMGB1, NPY, SRCIN1, KRT20, HMGA1, HNF4G, CD276, NES, PPP1R2C, KDM5B, HOXA5, SEPTIN9, WASF3, ST14, ARHGAP24, CXCR3, PLVAP, PDLIM5, STK11, POSTN, GRB2, GRID1, GRID2, GRN, BRMS1L, NR3C1, NRAS, TLR9, CXCL1, GRPR, GSK3B, GSTM1, GSTM2, STAT6, STAT5B, GSTT1, NPAS2, USHBP1, FSD1L, BCL2L12, CHST9, HAS2, CCR7, PTK2B, FANCD2, CYP2C19, CTAA1, TMED7, CCN2, CTLA4, GMNN, CTSB, CTSD, CTSL, FMN1, CYP1A2, PTPN1, CYP2B6, PECAM1, PDCD1, TAS2R64P, PTPN11, CYP27B1, DACH1, PDK1, DAPK1, TWIST1, DCN, ACE, NEAT1, TTK, DHCR24, TICAM2, GSTK1, UGT2B7, PFN1, MIR125A, MIR122, GREB1, PTK2, MIR100, PTK6, LINC01194, COL11A2, VIP, EZR, LINC01376, COX8A, VEGFA, ADAMTS7P3, HDAC9, CLDN7, CPOX, LDLRAD1, CREB1, VASP, UVRAG, CRK, CRP, MAPK14, F11R, BRMS1, SCO2, DLX4, AQP4-AS1, SRA1, PWAR1, EPAS1, CFAP54, PRKN, CNTN3, EPHB2, TLR4, PXN, EPO, TLR1, ERCC1, ERCC2, ERCC4, ERCC5, ESRRB, SERPINE1, ETS1, TIMP3, TIMP2, TIMP1, F2R, F2RL1, SLCO6A1, SYNPR, CTTN, HSD17B7, CBLL2, RNF19A, TSG101, TRPS1, HDAC6, ATN1, PCNA, DUSP1, RAD50, E2F4, TYMP, C11orf65, NAMPT, CYTB, TNFRSF1B, NEK10, PAX9, EPHA2, TNNT3, ELF3, EIF4E, EIF4EBP1, TNFRSF1A, ELAVL2, MTNR1A, LPAR3, BBC3, PYCARD, RNU1-4, WWTR1, MYOF, PAWR, GDNF, PRKD1, CCAR2, CTNND1, IGFBP1, FERMT2, IL1RN, UGCG, CTBP1, CTAG1B, CXCR1, IL13, VCAN, SMURF2, VCAM1, GPR42, ING1, VIPR1, MIR137, MIR149, ITGA5, PTP4A3, ZNF350, CDKN3, MELK, IFNA13, IFNA1, GRHL2, HAVCR2, SULT1E1, TCHP, STC1, GLO1, SSTR2, STARD13, SCGB3A1, VEGFD, SOX10, NR1I3, NANOG, TLR2, EPHA3, TRIM28, TPT1, DUSP4, FSCN1, CYP4Z1, DDX5, CDKN1C, ILK, CDK7, FANCM, BRS3, BCS1L, PIWIL1, XPR1, MIR193B, CCNE2, MEN1, MIR320A, RRM2, CUL4A, PROM1, ADRA2B, CCN5, RHOBTB2, GDF15, ZNF469, CDH13, CCND3, PCGF2, MIR26B, CDC25C, KMT5A, FGF8, MIR183, P2RX5, KLK5, TGFBI, LMTK3, RECK, ANXA3, CKS1BP7, ESRRG, TFPI, FOLH1, MAP2K1, LINC01672, CEBPD, GDF2, TBX2, CCN6, SYT1, ORAI1, CDK10, LOC107987479, ABCC3, CDX2, TXNRD2, CTCFL, ARF6, TLR3, CRY2, CRYAB, MIR34B, MIR30C1, DDR1, CASP9, RASSF7, BNIP3, MIRLET7B, PRSS50, MIR29C, POLD1, ADIPOR1, AXL, USP9X, GAB2, UBE2I, PTCH1, MIR15A, TSC2, CTAG1A, ARNTL, LATS1, MED1, WRN, PAPPA, AKT3, WWC1, SMYD3, RBP1, RPS6KA1, TRIB3, MGP, S100A1, MCC, NDRG2, RAB40B, HOXB7, SAFB, HOXD13, WBP2, MRPS30, SOD1, RAB25, CYP4F3, PRMT1, MMRN1, MSMB, MTA3, IL2RA, MT1JP, FRTS1, RASA1, GORASP1, SLC20A1, PPP1R1B, MT1F, NEDD9, C17orf97, CAMP, LRP1, RFC1, CXCL5, CREBBP, ANO1, S100A14, LIFR, CERS2, CXCL14, CALM1, KDM6A, CCNA2, LIMK1, IRF1, PHLDA1, MIR150, GOLPH3, FSTL1, CEBPB, MIR185, PSIP1, KMT2C, CDK9, ABCC2, CDH3, MIR106B, TSPO, PKD1, GRM1, CDC20, YWHAZ, CD59, LGALS7, MIR17HG, TXNIP, BUB1, MICA, APP, MIR590, APOA1, KMT2A, RBM38, NR0B2, DYRK2, ALDH1A3, MSN, HDAC3, RPS6KA6, UHRF1, MT1A, MT1B, BHLHE40, ADH1B, MT1H, IQGAP1, ACACA, IL17B, SOCS1, MT1L, FASLG, LGALS7B, PRNP, RHOA, BST2, LTA, BIK, REST, INTS6, MIR423, MIR424, KDM4B, MAD2L1, SMAD7, BAD, ROCK1, MIR451A, ATP2B2, ARHGEF2, POU1F1, MBL2, POU4F2, MIR503, FZD4, ZNF423, LUM, EBI3, STARD3, ENG, PVR, MT2A, FLT4, ELF5, EIF4G1, TPD52, OXER1, DNM1L, NR2C2, HSP90B1, TRAF2, TNFRSF12A, GPRC6A, RAC3, ERP29, HAX1, TIMM8A, PART1, TM7SF2, DNER, USP17L2, PRAP1, SIRT6, POLQ, HNF4A, TET1, TFF3, FBLN1, FOXF1, PEBP1, FABP5, PRDX1, HOXD10, RBBP8, FLOT2, HMGCR, PIWIL4, AGFG1, OTUD4, PLAC1, DCTN4, CYP11A1, PTPN6, CYP3A5, CYP2E1, GADD45A, GHR, GLI2, GGCT, NFATC2, STING1, UCHL1, IL6ST, PFKFB3, DAPK2, GTF2H1, GRP, STIM1, NUP62, TMPRSS13, LMLN, ATG7, TCF4, PDGFRB, TXNRD1, MVP, ING4, G6PD, MOK, RIPK1, RXRA, CLDN2, TERF2, KAT2B, POLD3, NMI, IL18R1, NDC80, RNF8, ULK1, RAD21, TACC1, TAGLN2, CFLAR, GPRC5A, PROCR, TBX1, SASH1, SREBF1, RAD52, TRIM21, SND1, NR1H2, SMR3B, TGFB2, PTPN12, MFN2, SHC1, XIST, LRIG1, ST8SIA1, SIPA1, WNT7B, ISG15, WDR5, SETDB1, OPN1LW, WEE1, UCP2, VAV2, RAB31, QSOX1, PTN, UTRN, UGT2B17, SRSF3, YY1, SPG7, TES, CITED2, THRSP, MLRL, AURKB, BCAS2, IL32, KDM2A, SOS1, TRIM13, NR4A3, CHST3, LRPPRC, RALBP1, CCL22, PRDM2, PSMD10, MLLT11, TRIM25, PTPN13, WWP1, PEA15, ID1, MIR148B, FKBP4, FOXF2, FOXC2, FLI1, LY6K, FOLR1, NEUROD1, AZIN2, TP53INP1, ORAI3, FYN, GATA4, GC, MIR449A, TSLP, GHSR, PRKCD, KRT88P, RERG, PIWIL2, GNRH1, NM, MRGPRX4, GSTO2, NUCB2, MED19, BTG1, E2F2, CYP4Z2P, P2RY2, ELANE, PRIMA1, EPHX1, UIMC1, GPR151, MIR381, EYA2, NTRK3, FABP3, NRF1, FANCC, FAP, FAT1, KLF17, FCGR3A, GNRHR, NR0B1, BEX2, KRT8P3, GALNT14, MB, DHRS11, ASAH1, IGFBP4, SLC2A4RG, MIR455, CDCP1, IL7, ARR3, MECP2, RHBDF1, MT1IP, IRAK1, ISG20, PNPLA2, CXADRP1, ITK, ANKRD36B, AICDA, HSD11B2, PBK, AVP, HDGF, SLX4, MIR409, MIR485, MIR146B, H2AZ1, SOX7, ZNF654, MT1X, MT1M, MT1G, ATF4, SHARPIN, MST1R, ALOX5, TRPV6, MIR494, HLA-DRB1, NR4A1, HOXA1, ZNF703, DPP4, MRGPRX3, GATAD2B, MIR19A, CSNK1E, CD80, HUNK, FLVCR1, MIR211, KLK14, LOC111589215, LAMTOR2, VN1R17P, HSD17B13, CTSK, IL22, CTSS, CXADR, GADL1, RGCC, CRYZ, MIR23A, EFEMP2, CETN1, CALM3, MIR107, CALM2, MIRLET7C, COMP, POLG, CALCA, EEF2K, MIR98, MIR99A, PPARD, CLDN3, CDH11, CRMP1, SERPINF1, CGA, DECR1, CAV2, PDGFRA, SDF4, MRGPRX1, PC, BRINP1, PRKAR1A, GPR166P, CBR1, MIR23B, CYP2C8, CCL27, HOXA10, MIR192, EBAG9, CAMKMT, MIR519D, HPN, KPNA2, LAG3, ZFHX3, KIFC1, PPP1R13L, KLF8, KLHL1, FOXA2, PRDM14, CDK3, CDK8, MIR655, SSX2, RGS6, CEBPA, MIR638, MTUS1, MAP1LC3B, HLA-C, MIR7-2, SELP, XK, HLA-DOA, EBP, SRY, MIR193A, NMU, HSD17B2, MIR7-1, MS4A1, USP14, IL25, FZD1, ITGB4, SLC16A4, ITGA2, PIM2, RPP14, PRMT2, KRIT1, CD14, SLC6A4, CD9, MIR215, RHOC, EIF3E, TBPL1, SLCO1A2, MIR7-3, MIR296, ABCG1, GALNT6, APOB, SGK1, HSPA8, HYAL1, CD40LG, IARS1, CD33, SCUBE2, SLPI, HAMP, AQP3, AQP5, JAK1, IL1R1, DMBT1, MIR144, BID, KIF14, CYP27A1, EYA1, CYP2C9, F5, TIAM1, THY1, FANCA, CYLD, THRA, ACSL4, AKR1A1, FBLN2, FBP1, FGFR3, SCGB1A1, TFF2, SDCBP, BCL3, CDK2AP2, MSLN, SCGB1D2, EPHB6, DMP1, HDAC5, MIR135B, BCL2L11, NPNT, E2F3, DDT, FSIP1, ECM1, LYPD5, S1PR1, EDN1, AMOT, EPHA10, DST, EPHA1, MIR374A, EPHA5, PTP4A2, DCD, PWAR4, CST3, CTHRC1, SNORD14B, VDAC1, GCLC, TACR1, MAP3K8, AZGP1, UBASH3B, VHL, GOT2, TSC1, SNORD35B, ECRG4, MIEN1, MIR106A, GSTA1, MDC1, MIR202, CLCN3, HDAC2, SNORD14C, SNORD14D, SNORD14E, CLEC10A, TFAM, FMR1, UGT8, TERC, USP4, PCLAF, VAV3, SAT2, GATA2, B2M, SEMA4D, CRH, VAV1, IL33, KAT5, CRABP2, LIN28B, GFRA1, KLF6, GPC3, CCN4, PTPRO, ZBTB7A, TNFRSF10D, SIN3A, MIR190B, PTPRJ, POT1, PAX6, PTX3, RPS27, PAX5, RRS1, ARHGEF7, SYCE1L, TNFRSF10A, PAK2, PCSK6, PTPRA, MIR708, GNL3, PTGER4, SAI1, PLCG1, PHLPP2, PTBP1, KDM4C, AKR1C3, MCM2, ADAM15, SCGB2A1, CDK19, DELEC1, PDGFC, PGF, ASAP1, RSU1, PAG1, MUC4, PA2G4, RMDN3, KLRC4-KLRK1, ARID4B, TMX2-CTNND1, CDK12, BCAS3, SH3BP4, DENR, NEK3, FBLIM1, NKILA, CORO1C, PLAAT4, ANLN, PRAME, SEC14L2, RASGRF1, CCN3, ALKBH5, GINS2, DSCAM-AS1, NSD3, RORA, SIRT7, SNORD15A, NCSTN, BRD2, PINX1, CEACAM6, ACTN4, NCS1, SF3B1, ANGPTL2, GABARAPL1, SF3B6, SEMA4C, MAGI2-AS3, SMAD1, SPRY4-IT1, LATS2, TACSTD2, MUC5B, NLRP1, PPIA, H3P8, TPX2, DANCR, ZHX2, WASL, PMP22, POLB, KLRK1, TBK1, SMURF1, FOXD3, RHBDD2, SALL4, CHPT1, NUMB, LPO, F2RL3, PRKCZ, LGMN, DYNLL1, EDIL3, MACROD1, ATAD2, PRDM1, XPA, XRCC5, RNF41, TNK2, OXTR, ELK1, TPM1, MIR339, MKNK1, NXT1, ZFP36L1, PDIK1L, RAB27B, P2RX7, LINC01638, EEF1A2, CCDC6, EEF1B2P2, AGR3, CDK5, RAB27A, POMC, NRP2, MIR338, TNKS, RMDN2, PLB1, TOB1, TLR5, NUPR1, CD63, PPP1R1A, TPTEP2-CSNK1E, MIR216A, SOCS2, MIR224, MIR378A, HYAL2, SOX18, FANCF, RABGEF1, NPM1, PGR-AS1, CHD1L, BHLHE22, PRG2, LGR5, FGF13, RBMS3, PIMREG, MIR382, SIGMAR1, SERPINA3, RAP1A, MAPK9, EIF2AK2, MAP2K5, MIR190A, BRI3BP, FLOT1, MIR212, TSPAN13, EPS8, ERN1, MZF1, PPP3CA, BGLAP, ABCC4, H3P17, NTSR1, STUB1, DDR2, F2, MIR326, XBP1P1, TPO, UBE2N, PRPF31, CSK, MTSS1, KDM4A, VTN, SLC40A1, UGT2B15, CSPG4, PIK3R2, PI3, CCR6, WAS, ADAM9, CTSO, MIR134, PRRX1, MIR136, MNS16A, TNFRSF6B, CSH1, RNF144A, UQCRFS1, PTPN22, ROCK2, FZD5, AOC1, PLOD2, LINC00511, COX11, CPB2, PLCD1, PSMD8, ADAM23, OSGIN1, SERTAD1, NOC2L, CA2, RACGAP1, PLA2G1B, KMT2B, CSE1L, FFAR4, PTPN2, RNF168, LOC110806263, CFTR, DLD, CERS6, ABCA1, SARDH, MIR181C, LETMD1, DNASE1, DPEP1, CHAF1A, DCDC2, TRH, TRAF6, ABCC5, BUB1B, H3P9, MPEG1, CDO1, DACT2, MYLIP, ZFAS1, CGB3, TMED10P1, ENPP2, BPIFA4P, CHUK, TWIST2, CD55, EIF2AK3, WNT2, ENPP1, DAP, RCC1, TYK2, VPS51, RMDN1, WDR1, LOC107228383, ANKRD11, SLC13A5, BRD7, TRIM59, LDLR, KDM5A, MAPK12, RTL10, FASTK, MIR483, MAZ, ADIPOR2, BAG3, BHLHE41, CUL1, STIP1, IDUA, MIR484, MIR486-1, RRP1B, TMED10, SPHK2, CUL3, MRPL36, MIR671, KIF2C, IL6R, TLK2, KLK11, FOXK2, HSP90AB1, LYVE1, HSD17B4, HOXA9, SETD7, ITIH5, SLC19A3, SRD5A2, PTGES3, RPS14, HNRNPA1, MIR495, SYBU, MTHFD2, DDIT4, MYDGF, RAB11FIP1, ASRGL1, KITLG, HOXC8, NAA10, HOXD@, HPR, HDAC8, CD46, VASH2, CSMD1, MARCKS, SRPK1, FZD7, CXCL16, ANPEP, PTENP1, CCL8, LMO2, KLK1, KLK2, DDX20, CCL17, CEMIP, MIR605, MIR663A, KRT17, LALBA, MIR608, PADI2, MIR618, SELPLG, LIF, RPSA, MIR630, LBR, SPOP, SLC13A2, KCNMA1, SHH, SIRT2, SLC6A8, AKR1B10, SLC6A2, DAAM1, NUS1P3, PCBP4, IRF6, LTF, SCN5A, ISL1, SLC1A5, KCNJ3, GOPC, RGN, ITGAV, ITGB2, PAK5, LRP6, SIM2, ST3GAL1, MIR542, MIR421, HLA-DQB1, SPINT1, MIR302A, PRDX2, ESRP1, WRAP53, MASTL, ATAD1, SLC34A2, MRPL28, AFAP1-AS1, TDO2, CBX2, EPSTI1, EGLN2, NELL1, SPZ1, KISS1R, ST6GALNAC2, PRMT6, SPAG5, CYTOR, ABCE1, CDK5R1, DOT1L, ANP32B, RPS6KA5, CBX5, SEMA3C, MIR448, BAK1, MTA2, BCAS1, NCAM1, ITGB3BP, CGB8, PES1, KSR1, TAT, GJB2, CGB5, GAST, RNASEL, HOTTIP, NEFL, MIR452, GPX3, MYCBPAP, QRSL1, C20orf181, NUS1, ATP6, LARP6, ALOX12, ST6GALNAC5, HIVEP1, MSR1, EGLN1, CHDH, NME2, CD200, SAGE1, MIR493, MMP17, RBBP7, NFKB2, NGFR, CREB3, SCRIB, ANTXR1, MTTP, CYGB, MUC2, KLLN, MIR425, NLRP3, MIR1246, GSTM3, TIMM17A, MAP3K14, MIR34C, PRB2, CCAT2, MIR544A, GATD3B, TRIP10, MIR660, MIR30E, MIR379, MBTPS1, MIR661, HNRNPA1P10, ANGPTL1, PANDAR, MIR361, MIR564, NOL3, CDR1-AS, SART1, TNFRSF10C, CISD2, UBE2L6, MIR506, MIR502, FHL5, TRAP, RAB11A, MIR324, MIR876, MIR216B, DDX21, MIR940, MIR526B, RN7SL263P, MIR944, MIR492, MCM3AP, MAP4K4, MIR133B, AIM2, MIR760, POTEKP, CBFA2T2, MIAT, XRCC6P5, POTEF, SNHG14, MIR323B, FGF18, MIR372, MIR370, SNHG6, POTEM, LINC02605, MIR330, MIR1271, WASF1, MIR1258, BLID, TEC, APLN, TRIM24, MIR300, TNFSF13, GLS2, PTGES, TCIM, TMPRSS4, SUSD2, CHFR, ENAH, TENM3, NSUN5, HIF1AN, STAB1, AMBRA1, FERMT1, HJURP, SLC39A9, BRF2, MGA, IMP3, NAT10, TRIM62, SATB2, CEP55, CDCA8, PPP1R13B, KIF26B, RNF31, AKIP1, PMEPA1, MIR25, SMG1, WDHD1, LZTS1, PLEKHB1, WIF1, AKAP13, ZBTB4, ZNF398, MIB1, PARK7, ACOT7, OIP5, CASC3, AHRR, RRAS2, ITGA11, RAB22A, CBX8, ARFGEF3, MLXIP, TP73-AS1, TWSG1, CIAPIN1, CEACAM19, TUG1, KCNH4, CT55, CYP2W1, KCNK9, GLCE, ASCC1, SOST, IL20, CHST11, NOX4, KLK12, SH3KBP1, NOP53, FBXO22, PSMC3IP, HSPB8, SENP1, CARD10, SNORD44, RNF11, DNAJC2, UBE2T, GIT1, TMEM97, POLL, CACYBP, UBR5, NELFB, GTSE1, PTOV1, CASZ1, NSUN2, TRIM44, LEPROT, PRMT7, AMACR, WNT4, ZMYND8, ERRFI1, FXYD5, TMEFF2, CXXC5, SHC3, RSF1, RTRAF, LSR, SUN2, UFM1, ACKR4, QPCT, VTA1, SULT4A1, NTN4, TRPV4, SENP2, TMEM132D, PDCD6IP, PARP3, MARCHF8, SLC25A43, PRSS55, PTPRU, ACTR2, BCAP31, CNTN4, IL23R, G3BP1, C1orf52, LYPD4, LINC00052, BCDIN3D, PSME3, CACUL1, FOXR2, SPRY1, TAAR1, FSTL3, KCNH8, ACVR1C, IL27, CASC2, NR2E3, DCAF1, PRDX6, MIR199B, MIR196A2, MIR188, MIR154, MIR130A, ST18, MIRLET7G, RAB11FIP3, C4orf3, MIR100HG, TINCR, TMEM189-UBE2V1, TMEM189, MAML1, NDUFS7, MACC1, ACTBL2, SCARA5, HOXA-AS2, HS3ST2, NR1H4, MSI2, C10orf90, ERLIN2, TUBA1B, PEAK1, NOL9, BRD8, FAT4, SPIN1, WDR77, TRPM8, AHNAK, MARCKSL1, TUT1, TNS3, TMPRSS3, RIPK3, COP1, ADRM1, NOD2, LRRC4, TNN, MIIP, KAT7, RINT1, AFAP1, PBOV1, LPCAT1, LINC00472, DHDDS, HOPX, KLHDC7B, CRB3, NAF1, CREB3L1, CIB2, PYGO2, WNT3A, SLC22A16, HTATIP2, SNHG7, PDPN, ZC3H12A, IGF2BP1, RPAIN, RHBDD1, IGF2BP3, IGF2BP2, VMP1, CLDN16, HM13, PDCD1LG2, PDGFD, SLURP1, H3P40, HNRNPM, MYO10, E2F5, NOS1, NONO, NOP2, TNFAIP1, EFNA5, EFNB2, DRG1, AMPH, TPI1, EIF4A1, CRISP2, TTC4, ELAVL1, MYLK, CCT3, MXI1, MVD, TRPC1, ELN, TRIM37, TRPC5, MARK2, EMP1, DVL1, NUMA1, SLC25A5, OPRM1, TCF3, DDB2, SLC25A3, PGK1, TRA, CDK14, PF4, GSDME, TERF1, DKC1, NR2F2, TFDP1, DOCK1, TGFB3, PBX1, PAX2, DRD2, P4HB, TIE1, ANXA7, TIMP4, ANXA4, TK1, MTNR1B, COX1, PDHX, LGALS8, FES, XPO1, MXD1, TM4SF1, SH2D1A, LYN, LPP, FKBP1A, LPL, LIMS1, SLC30A1, LGALS3BP, ALPP, AFF3, LAD1, PAX8, KRT7, TFEB, SEM1, KIR3DL1, AP2A1, FRK, PSCA, FRZB, FECH, FCGR3B, FCGR2A, MAS1, TTN, MPST, MOS, EPHA4, TYRP1, EPHB1, AFDN, ALDH2, UBE2V1, UBE3A, MEOX1, SUMO1, UGT1A, AIF1, ETV5, EXTL3, USF1, MDK, F8, MCM7, MC4R, TRPV1, VRK1, DCC, PLAUR, TAP1, BHMT, SEMA3F, RORC, SELENOP, RNH1, RNF5, BMPR1B, BMPR1A, RNF2, FOXN3, SGCG, RGS4, RFC2, DAB2, BCYRN1, SIAH1, ST6GAL1, RELB, REG1A, SKI, RBBP6, CCR4, SLC2A3, ACKR2, SLC3A2, RPA1, RPA2, SDHB, CDK11B, SALL1, CASP2, CASP10, CBFA2T3, S100A11, SORT1, SLC25A20, CCL1, CD1D, CCL4, RPS6KA2, RPN2, PTTG1IP, C5AR1, CD28, C5, CCL19, TNFRSF8, XCL1, CD38, RPL17, C1QA, CD70, BCAT1, RAN, SLC12A3, HTRA1, RELN, PROX1, SQLE, ARSA, SRF, CTBP2, CTH, SRGN, PPP2R2B, ST13, ARHGAP1, PPP2R1B, PPP1R8, CYP2A6, TRIM23, PODXL, ABCC8, SUV39H1, PMAIP1, CYP26A1, AQP1, SYP, TAL1, KLK7, PSAP, COL5A1, CSH2, RAD9A, RAB5A, ATP7A, RAB1A, PYCR1, ALDH7A1, CP, SMARCE1, PTPRF, SMO, CPD, SNCB, PTPN9, CPT2, CR1, ATIC, PTGIS, PTGFR, PSMD4, SOD3, SOX5, CRKL, CRY1, KCNH2, CAPN1, SEMA7A, HMGN2, HLA-B, ADA, ACTG2, IGSF1, ACR, FFAR1, ADAM8, PARP4, GTF2H4, HNRNPU, GEM, IFI16, HMGB2, HMGB3, OGT, PIAS1, IRF5, STK24, GSTZ1, GATD3A, GBP2, CDC7, GCG, GATA1, GNB3, GDF1, ACTG1, IDH2, HDC, HSD3B1, IRF3, HTT, SLC7A5, IFIT3, USP11, HOXC10, GLB1, ING2, IL5, HOXA@, HNRNPC, BRF1, PPFIA1, GUSB, MAD1L1, GYPA, KAT2A, ITPR3, GLI3, FTH1, IL9, ITGB6, GSTA2, AXIN1, ACP3, AANAT, HOXC11, IL13RA2, HSPD1, PDE5A, RBM10, GTF3A, IL3, GPD1, MAPK11, HCAR1, MAPK6, CST1, PRAC2, CSRP2, PALD1, CSTA, WLS, PDE7B, LINC01193, TUBA4B, HCN1, SKA2, FOXD2-AS1, DKK2, STEAP1, DNAJC3, KDM2B, TAS2R38, CCL4L1, GLYR1, PSMD3, FBXO10, FBXO5, ERAL1, HOXA7, PSMC3, CRIP2, HOXA11, LHX6, PREX2, HOXB@, AATF, SIGLEC7, CSHL1, CKAP2, HAVCR1, CSN1S1, SPSB1, HBP1, LINC01116, HOXB3, CSNK2A1, HOXB5, NPTN, MLH3, PIF1, NCR3LG1, SOX2-OT, FSHR, LSM1, PADI1, DOK7, UBQLN1, A1CF, RGMB, HSPA9, PLCB2, DAPK3, PLCG2, DBT, DAG1, SCAI, RMC1, PLD1, E2F8, LIN9, PLEK, PLAGL1, ZNF326, HSPA2, FBXL19-AS1, BCL9L, CENPU, AKR1C1, PGC, FGF14-AS2, GLP1R, PGP, GLUD1, PKD2, MIR22HG, CXCL17, KLK9, DCK, ADGRE2, GLUL, RSPO1, ICOS, FXYD3, PDLIM3, GOLGA2, PPP1R2, HPRT1, SLC27A6, DCPS, CYC1, HPD, PPP2R2A, CYBA, PPM1B, ABCB5, HTRA2, CPP, PRCP, PREP, BMP10, CRCP, LINC01139, PPIB, POTED, GNAS, PLP2, GNA11, PARVB, PLXNA1, SEPTIN4, GNA12, KDM8, POLE, PPBP, FHOD1, POR, DNAJC15, DROSHA, PIP4K2C, CLEC4D, LINC00339, PHF5A, SMIM10L2A, KLK13, MIR199A1, KIF18A, GTF2H2, USP22, MIR196A1, SIN3B, CDC6, MIR198, MIR199A2, CDKN2D, RPL10, HCLS1, ANKRD12, CD81, HBB, CD69, HAS1, RORB, CDR1, CEP70, SIRT5, CHI3L2, ING5, CHD4, RIEG2, MIR15B, PDIA3, SIRT4, GSPT1, MIR187, MINDY4, MIR181A2, RAB1B, CENPA, MIR184, LOXL4, MIR186, ASCC2, AIF1L, HABP2, CBS, PHF8, CCNG2, CCNG1, H1-0, CCNF, ITCH, CCNC, S100A10, MIR208A, ROPN1L, EMILIN2, MIR30D, SARS1, CAST, PALLD, MIR32, KDM6B, CCT6A, SEPTIN6, MPRIP, FBXO28, FAM107B, SULF1, KAT8, SESN2, RHNO1, ACSBG1, CD6, KANK1, FERMT3, RCOR1, MIR219A1, CRISPLD2, TLCD3B, RPS15A, AKT1S1, CHIT1, RFX1, PGLS, POC1A, NECTIN1, MAK16, BACE2, GPR39, MTO1, RAB2A, RAD54B, RAD23B, WNT5B, RAD17, PANX1, ZBP1, KIF4A, BRD1, FLRT2, MR1, RCHY1, SOSTDC1, PTPN23, PTH1R, PTPN3, ATRNL1, TNKS2, HNRNPA2B1, CSAG3, TENM4, TIPARP, USP17L9P, KANK2, PNKD, AKR1C2, HNMT, AFAP1L2, CPA1, MIRLET7E, COL4A2, RFC3, SUZ12, PSD4, DNPEP, RBFOX2, RBL2, RBM4, SRRM2, RBP2, MNX1, PLPP5, SNX27, FAM83D, ANP32E, CBX7, REV3L, ELOF1, CHRNA4, MIR130B, GRB14, MIR129-2, DDAH1, HLA-DQA1, MIRLET7I, SMPX, RAP1GDS1, LCOR, PLA2G15, CNR1, SNHG1, CMKLR1, GRK5, RARRES2, RASA2, DDX58, BRSK1, TRIM11, PFN2, CYB5R3, TMED5, ZNF395, INS, TSHZ2, FBN1, FBRS, CMPK2, RBM45, ACSL1, NSD1, F10, PCDHGB7, ALG1, MCM6, F9, ARHGAP9, F7, CPEB2, ACSS2, METTL3, LTB4R2, CCL28, PNO1, MAGEA2, GARS1, LXN, TINAGL1, SMARCAD1, TNFAIP8L1, SEMA4A, OSCP1, IQGAP3, MAN1A1, ROBO3, WDR20, LINC00628, TSACC, BCCIP, DIABLO, UNC45A, GAS6, PFKM, ECHDC1, MGAT5, IL16, ERG, DOCK11, S100A16, MIP, EPS15, DYNLL2, MAP3K9, DEPDC1, MAP3K10, ASAP3, MAP3K11, IL15RA, UBE2Q1, CHRNA9, ILRUN, ATF7IP, MGAT3, TNFRSF9, ILF3, ANKRD44, MAP3K3, GBP1, MAP3K5, ST6GALNAC1, ETV1, ETFA, CMTR2, MEST, TDP1, PRR11, ETF1, PDIA2, OGDHL, AGK, CCAR1, TMEM88, SMYD2, MEPE, FGF5, FOSL2, ITGB5, KIF11, FMOD, MYOCD, MIR155HG, PHRF1, CARD16, USP28, KRT6A, ITGA4, STIM2, KRT13, CFAP97, L1CAM, SRR, SMYD4, LACTB, KNG1, UCN3, FUT1, EGLN3, ACE2, IL21, KCNN3, SLC25A19, FRA16D, PRUNE1, KIF2A, KIR3DL2, FRA7G, NGB, PTBP2, CYP4F11, MARK4, FOXP2, KIR2DS1, PIEZO2, ITGA2B, RPTOR, LY6E, FH, FGR, LTB, LRRK2, LTBP3, H4-16, BCAM, PDXP, PDX1, TIMM50, INSRR, ADAMTS9, TPPP2, IFI6, TC2N, PAQR4, LRP5, ACKR1, ARHGAP31, TENM2, LAMC2, ARL11, KIDINS220, LCN1, FOXJ1, FUT8, LGALS4, IRF7, LOXL1, LGALS9, LIG3, PBXIP1, UBE2Q2, VANGL2, EIF3H, VWA5A, ENGASE, E2F7, MNT, EPB41L4A-DT, PTRH2, OLR1, GFAP, GFPT1, CT83, BRCC3, SLC36A1, TSPYL5, NOX5, OXA1L, PAGR1, PAM, NCKIPSD, ID4, NOP16, ISYNA1, NKD1, DERL1, HBEGF, OAS3, SYNPO2, CITED4, CHAC1, TERF2IP, NPPA, DDX53, LINC00160, DUSP6, ADAM22, CMPK1, SPA17, DUSP2, MAP3K20, NTS, MAPKAP1, TMEM8B, CADM4, MRPL58, PRRX2, ADGRF5, ARHGAP10, NUSAP1, CPA4, PDC, PCSK9, HRH4, SLC26A4, RHBDF2, MLXIPL, TFDP3, GAL, NDUFA13, MEMO1, MAGEA2B, ISOC1, DHX9, DDX1, RICTOR, GOLM1, PCDH7, HOXA11-AS, KDM1B, SERPINA5, ATRAID, POMP, LINC00518, CHST15, PCP4, GJA3, HTR2A, FZR1, TNFAIP8L2, GJA8, TLR8, SPDYA, PDB1, DNAH8, FGD3, NNMT, SMPD3, NMT1, TBL1Y, APPL2, MUC6, LINC00473, IL4R, CASD1, MCU, MSTO1, MYCL, MYH2, MRPL41, MYH10, MYH11, FANCL, PRPF38B, ELF1, IL2RB, IL7R, EMP2, ASXL2, MSX1, MPG, HES6, ZNF331, MCM10, MPZ, CITED1, MSRA, SYNJ2BP, MTHFD1, CERK, DRAM1, MSX2, MTAP, ATP8, P2RY12, NUDT1, SERPINB1, GPAT2, GPBAR1, EFNA2, NEDD8, ZBTB10, PEBP4, NEO1, ERCC6L, RHPN1-AS1, PPP1R12C, EEF1A1, FNBP1L, SLC5A8, NFYA, SLC25A21, DNAAF4, ECHS1, NNAT, UGT1A8, PGPEP1, CELSR2, LAMTOR1, EGR3, RBPJ, TESC, CAPN2, NAIP, NAP1L1, IGKC, ODAM, SARS2, SEPTIN2, PAQR3, MLIP, KLB, NDN, FAM53A, NDUFB3, SLC2A12, VAMP8, PTGDS, SLC14A2, MIR1301, HIF1A-AS2, PDLIM1, ATP6AP2, PDZK1IP1, AFM, SSTR5, SSTR1, SSRP1, ARHGDIB, SMIM10L2B, WNT11, MIR1290, TNFSF13B, AIFM1, SSAV1, TNFAIP3, CTR9, CRNDE, USP39, NRG3, ARNT, USP8, CERNA2, ARRB1, ARRB2, ANG, H3P12, LPAR6, NME1-NME2, ARID3B, OSMR, ARF3, MYOM2, HEXIM1, TMPO, COX7A2L, PCSK7, RBM5, RBCK1, MIR4732, TKTL1, EPX, TRIM16, CELF2, ZFX, SULT1A2, AURKC, ZNF197, H4C9, STK3, STAT2, STAR, LINC00598, ADRA2A, ACOX2, LINC00461, PLK4, WNT3, SIX2, MIR454, SOX11, BIN1, SPAG9, MIR500A, SOX3, WIPF1, MIR668, HCP5, ASPH, PKD2L1, ARPC2, LSINCT5, SNTA1, RAI2, MIR520C, BLACAT1, TSPAN1, MIR1204, PRNCR1, ATHS, HAP1, MALT1, MIR498, ATOX1, ARPC1B, CERT1, TPD52L2, FRY, AGTR2, SPAM1, RAI1, H4C4, CLIP2, CHL1, GIPC1, SPRR2A, H4C6, H4C12, TNP1, H4C11, CAPG, H4C3, APOBEC3A_B, NBAT1, OPTN, LINC01133, CCR9, TRAP1, ANCR, H4C2, STARD10, H4C5, H4C13, MIR505, H4C14, DVL1P1, SULT2A1, BLCAP, TLE1, PEMT, KAT6A, PIAS3, TFAP2B, RECQL4, EEF1E1, RECQL5, VPS4B, GOSR1, LIPG, BRD3, ZFYVE9, NCOA4, RACK1, IFITM3, RAPGEF3, LINC00673, SSX2B, SLC25A16, RBM14, MAP3K12, LONP1, FAM3C, TMBIM6, ADAMTS9-AS2, TEAD4, SELENOF, TFCP2, MIR539, LUCAT1, MAEA, ATG5, MIR652, DLEU1, ST8SIA4, KLF10, SLC39A7, AP2B1, MAFK, THBS2, TLR6, APBB1, KLF2, MIR3646, MICU1, TGFBR3, NKX2-1, NTN1, TUSC3, AIRE, TUBB4B, TKT, SYCP2, DNALI1, CNKSR1, NOD1, NBR2, SLC9A3R2, MAD2L2, MIA, TBXA2R, MIR4728, P3H3, DLG5, DLGAP1, CDR3, GLRX3, KIR2DS2, TARBP2, PRDX4, ARL6IP5, TAP2, APOD, PIBF1, SLC19A2, MIR411, DCLK1, OLFM4, AKAP3, RBM39, CCT4, CCT2, SLC33A1, KIF20B, AQP4, H3P41, NOG, HYOU1, ZNF32, ZNF35, MIR597, EI24, MIR592, TADA3, NXF1, GRK2, TRIP13, TCF21, LINC00968, RBM14-RBM4, RPL17-C18orf32, ADRB3, MIR574, ADRB1, TCL1A, CCL4L2, ZNF143, MIR569, TCF7, MIR568, FBLN5, ELOC, APOC3, EIF1, GDF3, SNCA, H4C8, ACYP2, ACP1, MIR874, API5, LOC100288966, FGF19, UPP1, HPS5, MIR346, SELENOW, SIRT1-AS, ACP5, BNIP3L, KHSRP, SLC23A2, MIR422A, MIR331, TUBG1, SEL1L, ALOX15, TUFT1, SOX2-SRR2, LINP1, MIR328, KLF9, TUSC2, CBX3, UGT2B4, KLK8, TUB, UTS2, HCAR3, MIR384, TOX, LINC01857, BVES, PARG, RASSF2, CORO1A, PMEL, ACTN1, PTBP3, NUDT5, IKBKG, IFITM1, SHMT2, BDKRB1, CFB, HNRNPDL, SH3GL1, THOC1, IRAIN, GACAT3, CBX4, MIR543, MIR937, POLI, GABARAP, UGDH, MGLL, CCL7, UBC, TNFSF9, LNCRNA-ATB, SRL, TNFSF12, TNFSF12-TNFSF13, MAPRE1, PLA2R1, H3P7, GPAA1, SNW1, UBE2B, KIN, H3P24, AGAP2-AS1, H3P42, PTGR1, S1PR4, UBE2E2, H3P47, MIR9-1, ALDH3A1, CAMK2B, NINL, CANX, CA5A, MAPT-AS1, MIR302B, MORC2, SPATA2, MIR151A, TYR, SDC4, SDC2, CX3CL1, EGOT, TYRO3, C3, ACLY, MANCR, ZNF652, CCL25, IQSEC1, PLPP1, CCL16, USO1, DLK1, ST8SIA6-AS1, FADD, RIPK2, MIR2052HG, HSD17B6, CA1, GINS1, SIX3, THPO, SART3, MIR888, MIR675, AK6, MIR511, SLC7A1, H4C15, ATP2B4, VGF, ATP2B3, CACNA1H, CNMD, SMARCA5, CBX1, CACNA1I, MIR765, AMD1, PRDX3, TOPBP1, BCL2L10, MORF4L1, DNAJB4, MIR362, VTRNA2-1, MIR665, MIR1247, MIR410, AMHR2, IATPR, BTRC, RANBP9, AZU1, HSP90B2P, ATP6V1C1, FAF1, KIAA0100, PARP2, SMARCA1, MIR433, BCL10, SLCO2A1, SLC25A1, MIR491, MIR18B, TRPM2-AS, BAAT, TRPC3, ZGLP1, ATP2A2, MIR1307, MIR301B, SELENBP1, EHMT2, LIMD1, ATP1B2, RAE1, USP1, MIR4435-2HG, MIR873, RCAN3, CAVIN2, CSAG2, ABI1, SLC2A4, GHET1, TPM2, SMS, SMPD2, SETD1A, TRPM2, ACTRT1, MIR1229, TAF8, MIR1266, MIR3666, LRG1, MIR3908, MIR3617, F11, TGM7, CNTROB, TOP1MT, MIR1207, PNCK, FANCB, FAH, ZFHX4-AS1, FOXL1, FANCE, MIR3942, MIR1256, GRIN3B, MLANA, MIR1296, ZNF501, ATG4A, AD11, FOXS1, ALAD, TNFRSF13C, MIR3609, MIR3614, FLG, FUNDC1, UPRT, DBH-AS1, ERV3-1, MIR3922, FBN2, PIGU, MIR3923, MIR1297, UHRF2, FBXO32, MIR1228, FLII, JMJD7, OMA1, FOXE1, BHLHE23, WDR92, AHCY, AK4, PIFO, VASN, MAGEE2, AFA1, MIR374C, H3P20, UHMK1, FOXD1, CPT1C, MIR548J, MIR1471, FGA, AEBP1, EVI2B, TDRD9, LOC100422227, SPPL3, MIR1267, MIR3196, MIR1915, MIR1469, MIR1236, MIR3188, TDRD10, NCOA7, MIR1179, HMGB4, MIR761, TSPY10, MIR2276, FGF9, EMB, USP43, ZEB2-AS1, TMEM132E, MIR663B, F2RL2, EZH1, CYB5D2, MIR762, GNG12-AS1, MIR1284, FGD1, EXT1, TBC1D16, TMEM219, EWSR1, SETD9, MTPN, LOXL1-AS1, MIR1193, GOLT1A, LINC00899, FKBP1AP1, AHSG, MIR1972-2, MIR3141, MIR4262, MIR3184, FKBP1AP2, MIR4282, FCER1A, MIR1249, PXDNL, FKBP1AP3, FKBP1AP4, CD200R1, FOXG1, THEM4, ANTXR2, MIR3065, ALKBH2, MIR1245A, ETV3, FGD4, VPS37A, MIR4293, MIR1287, FGL1, MEF2B, MIR4316, MIR664A, SFR1, FCGR1B, MIR4301, MMP21, FHL1, FHL3, EXOSC6, MIR3200, FOXN4, MIR33A, RHPN1, KLHL22, C3orf67-AS1, MIR503HG, ZNF496, ABHD14B, PLCD4, ADAMTS9-AS1, ODC1-DT, GPAT3, LINC01585, LOC101930370, KMT5C, GOT1, SPSB2, GPLD1, GPM6B, GPT2, LOXL3, MIR6826, CCDC54, PPP1R9B, CCR10, SLC9A7, MIR6861, MIR6882, TRIM63, MIR8073, MIR7847, USP32, MIR6875, ZNF503, RIOX2, COMETT, GOLGA1, FOXD3-AS1, RGS8, GHRHR, GIP, LINC01355, NPY4R2, GLA, MYLK2, ALG2, KRT90P, ADH5, PLIN2, SNHG12, FAM83A, EZR-AS1, ADCYAP1R1, ATG4D, ADARB1, GM2A, MAEL, ATG4C, PPP1R15B, GNAQ, FBH1, LINC01483, LINC01787, GNB1, ACVRL1, PTPN5, MIR8084, XCR1, ROCR, USP38, GSR, SNORD138, GSTM4, TMEM126A, TRAF7, GSTM5, LOC110283621, LOC110599580, ACAT2, ACADSB, BTG3-AS1, ABR, KIAA1109, RNASEH2C, SIRLNT, ABL2, GTF2I, ABCB7, AARS1, AAMP, USP44, H3P28, RAB6C, GUCY1B1, MAGT1, AADAC, H3P33, GYPB, CCDC8, HSDL2, TALAM1, GRM4, GRK4, GPR17, LOC102723971, ACVR2B, LNCTAM34A, GPR19, ACVR2A, ST6GAL2, SLC12A8, MAP1LC3A, GPR35, LINC01287, FOXC2-AS1, MCM8, PERCC1, GRIN1, LOC105371849, MAP3K21, SYVN1, MKNK2, GPT, ACTC1, GPX7, LINC01614, LOC105377871, ACTA1, LOC108004545, HVCN1, SARNP, NKD2, B4GALT1, FLT3, CENPI, MIR497HG, BIRC8, GAS1RR, TUNAR, CCAT1, FTH1P3, FTL, ABCC12, FUCA1, ORMDL3, LINC00707, SFXN1, FUT2, CT47A12, SNHG16, ARHGAP18, C8orf17, FUT3, LINC00458, FUT6, PGAP3, LINC01016, LY75-CD302, ZNF276, MAFG-DT, BCL2L2-PABPN1, RAB4B-EGLN2, ATXN3L, SPECC1, CAVIN3, MRPS30-DT, DCLK3, IL17F, CCDC85A, RAD51-AS1, UBE2Q2L, ITGB2-AS1, PSMG3-AS1, FLT3LG, LINC02582, FMO5, MAL2, AP2A2, LOC100505909, LINC00963, HOTAIRM1, GAS6-DT, CBR3-AS1, LINC00310, SLC35A4, FPR1, PIK3IP1, FRA6E, LIFR-AS1, CYP2U1, CMTM1, GRK3, TMEM54, FRA7H, KIF12, CDCA5, MTFR2, FYB1, ADRA2C, BIVM-ERCC5, GABRA3, GCSH, ADRA1D, NNT-AS1, GCY, ADORA2B, DUOXA1, MIR5188, BMF, HEIH, MSTN, UNC5A, CERS6-AS1, KCNH7, FSBP, WDR34, CYP3A7-CYP3A51P, AQP10, SEC16B, ERVK-11, ABCC10, NAV1, MYB-AS1, STARD13-AS, HOXC-AS3, HOXC13-AS, ADORA1, IFNG-AS1, SCIN, GFM1, ERVK-22, ERVK-15, ERVK-12, MIR4480, GAD2, TMEM132C, GALNS, ERVK-2, LRRC32, MIR4469, ZNF300, CHRDL1, MIR4428, GAS1, MIR4458, GAS8, SLFN11, DERL3, CARMIL3, GATA6, BOD1, MIR4530, L3MBTL4, MIR4513, MIR4485, GBX2, MIR4766, MIR4665, MIR4484, JPT2, MIR4443, GCNT2, GPR119, FEZF1-AS1, MUC17, NPS, CSNK2A2, ASCL2, HCC, MBOAT4, LINC00589, KLKP1, HAS2-AS1, HDDC3, ENHO, MIR510, SLC27A1, MIR509-1, CA13, MIR507, ASCL1, ARSF, RBMY1D, CSTF1, RBMY2DP, SLC35B2, ARL2, AMIGO2, ARPIN, BCRP1, ARSD, ASPG, NUP43, ZACN, RGSL1, MIR487A, DND1, CSNK2B, ASIP, HMGA1P7, MIR567, LRRC26, PCARE, TSPYL6, MUSTN1, CPM, MIR496, ATP1B1, C1QL3, MIR99AHG, MIR432, BRCA1P1, ATP2B1, CPB1, FENDRR, COX6C, LRRC75B, HRNR, SNHG5, SERPINA13P, ASNS, ASPA, CRIP1, C10orf143, C12orf75, CREM, MIR520G, CRABP1, RTL1, TNFAIP8L3, ASS1, CRAT, IMMP2L, YPEL2, IGFBPL1, CTNNA1, ARHGDIG, AQP7, DAB1, MIR33B, SNORA7B, CELIAC2, CHSY3, CYP11B1, CYP4B1, TRARG1, CYP2J2, PAX8-AS1, CYP2D7, AQP9, S100A7A, ASAH2B, EIF4E3, DGKA, ZFP57, MIR553, STPG4, MIR562, EPHA6, SUMF1, CTBP1-AS, MIR559, LINC00491, MIR449B, MROCKI, MIR552, DAZ1, SNHG15, DLX6-AS1, MIR551A, CT47A7, ARF4, IFNE, CX3CR1, VSIG1, SIAH1P1, NANOS1, NEK5, CYB5A, STAC2, CTSZ, HSR, RSPO4, TMPRSS7, CTSG, CTRL, RASSF10, CTNND2, ARHGAP5, RSPO2, TSPAN33, LINC00520, ARSI, CYLC2, RHOB, LINC00273, C3orf35, ARMH1, CLEC4G, CYP2A7, LINC01089, CYP3A7, HCAR2, SCFV, CYP2C18, COX5B, LINC00668, COX4I1, ADGRE5, CDH4, CDC25B, MIR197, BTF3, SEPTIN7, CDC5L, BYSL, CDH15, ENTPD5, ENTPD3, BPY2C, BPY2B, C4BPA, CD86, BTD, CDH17, CHD1, CETP, MIR16-1, CEACAM8, MIR196B, BMP5, BMP8B, MIR367, CENPE, BTC, CEL, BNIP1, CLGN, BOK, BPHL, ZFP36L2, CD27, GAS8-AS1, CD22, RUNX1T1, MIR95, MIR28, CALML3, CBR3, SERPINH1, CBL, MIR92A2, CD8A, CASP6, CASP5, CASP1, CALU, CAMLG, CAPNS1, CCKBR, CALD1, CAD, CACNA1E, MIR24-1, CCT, CD1A, CA11, PIM3, CD3D, SMIM22, CD3E, MAP1LC3C, MIR218-2, MIR217, CD5L, NRARP, TARP, CHD3, HAGLR, BCAT2, MIR363, MIRLET7D, PGM5-AS1, MIRLET7F1, ANKRD30BL, BAGE, BCL2L1, MIRLET7A2, COL4A1, MIR101-1, CNTN1, CNP, KIR2DL5B, PLK3, COL4A5, HNP1, AKR1C4, CUEDC1, CORT, MIR488, CASC15, KPNA7, IFITM10, COL15A1, LINC01561, MIRLET7A1, MIR376B, ATRX, KIF1A, COL12A1, COL10A1, ANKHD1-EIF4EBP3, CNGB1, LTB4R, MIR124-2, CHM, CIRBP, BCR, CKB, BDH1, MIR377, CHRNA5, EID3, ATXN7L3B, SUMO1P3, BNC1, MIR147A, CHGB, CHGA, POTEE, CKS2, CLCA1, CLK2, CLN3, MIR133A1, TNFRSF17, CLTA, BCL9, CLTC, BCL7A, MIR128-2, BCL2L2, CCR3, ANIB3, DUXAP9, MIR125B1, CT45A1, MIF-AS1, RUSC1-AS1, ASB6, TMTC3, MOSPD2, RHOXF1, USP51, USP17L30, SLC35G1, EDN3, S1PR3, MEMO1P1, CLEC14A, EDA, SPRED1, USP17L29, SLFN5, FBXO39, C2orf92, SHOC1, USP17L28, IQUB, TBC1D3, DAB2IP, IRX2, PRSS3P2, AMOTL1, OIP5-AS1, TEX46, EFNA3, UNC5B-AS1, SPANXB1, ANKRD46, HULC, LRATD2, LINGO2, PLPPR5, CALML6, LOC284454, CT47A1, MIER3, DUSP8, DUSP7, BHLHA15, HTR3C, TSPY3, PSORS1C2, LINC00460, ADAMTS17, ADAMTS18, DUSP5, ASXL1, CT47A2, DNAJB1P1, SGMS2, RASSF6, IFNLR1, HFM1, USP17L27, ECE1, USP17L26, ANK3, USP17L25, USP17L24, CCDC116, MAGED4, E2F6, WBP2NL, DEFA1B, DYRK1A, CARMN, DUSP9, MEGF9, EIF2S1, BTLA, EPB41, MIR939, KRT80, MIR933, EPB41L2, A2ML1, FBXL14, SLC38A6, OR2AG1, ALPI, ENSA, ALPL, MIR942, ENO2, ALX3, MIR365A, TTC36, EIF2B1, NRSN1, FOXO6, RAB6C-AS1, GATA5, ALDH1B1, EPRS1, TFAP2A-AS1, FGF13-AS1, ALOX5AP, SRXN1, SIRPA, MIB2, EPHB3, ABCD2, MUC15, HAPLN3, MIR934, NRG4, EIF4G2, AMELX, TMEM170B, PYHIN1, SHLD1, SIK1, AIFM3, AMPD1, EN2, LINC00309, EIF4B, PSS, MIR802, MIR766, EIF2S3, ELF4, MIR298, AMD1P2, HJV, MIR450B, ELK4, CREB3L4, EMD, SPC24, TMC4, APCDD1, AMBP, SLC25A52, CCBE1, TMEM199, EMP3, IL34, CT47A3, AGO3, AGO4, DLAT, PROSER2, OR2T6, DLG3, ANKK1, CT47A11, MIR612, DHPS, DLX2, DHODH, GPX6, BIRC3, FAM133B, DFFB, APOA4, RNF169, MIR613, FOXK1, RNASEH1, SRRM3, TRDMT1, FAM83B, MAPK15, MIR616, DNM2, NEIL2, BRWD3, DNA2, DNM1, MMS22L, DLX5, MSRB3, YTHDF3, ASPM, MIR603, DFFA, DCX, CASC22, MIR588, MIR584, MIR578, NEK8, MIR577, DCTD, MAGI3, MIR573, ZNF763, WDR62, ZFP82, MIR7-3HG, SLC25A41, DDC, LINC00641, MIR589, MUC19, RASSF3, APOC1P1, MIR591, OR10A4, MIR593, MIR599, MIR600, DEFA1, HCA1, NPAS4, MIR601, HS6ST3, STEAP2, THSD7A, MIR621, PLPP4, FLCN, CRTC2, DSPP, TET3, PIKFYVE, TMEM17, ARL13B, SNORD118, LINC00466, RDM1, DSG3, HTRA4, DSC2, SLC25A6, DSC1, SLC26A2, SLC25A4, DOCK3, CT47A6, IMMP1L, RILPL2, CT47A4, CT47A5, METTL7B, RMST, PAOX, CT47A10, CT47A8, CT47A9, ADCY4, CT62, MLKL, GGN, DRD5, TMEM26, DRD4, DPYSL2, ALKBH3, MIR92B, SKA3, MIR645, ZUP1, OPN5, APAF1, TBATA, DPYS, DPT, MIR628, MIR627, DOK1, MIR622, MIR650, DPYSL3, SLC26A3, FAM171A1, UCMA, JMJD1C, DRD1, HEPACAM, OTUD1, MIR653, DOK6, LRTOMT, DDIAS, DRD3, SLC37A2, ANXA13, HYLS1, SLC4A11, LMNB1, TATDN1, CD160, PLAAT3, HHLA2, ST3GAL3, SHOX2, STRAP, ADAMTS6, FBXW4, MAP4K1, SH3GL2, ITSN1, SGTA, SFTPD, SFTPC, TRA2B, AKAP10, SRSF6, DUSP10, SRSF5, SRSF2, ZWINT, SLC1A2, SLC38A3, CIT, SLC27A4, SLC27A2, SLC18A1, SLC16A2, SLC11A1, SLC8A1, SLC7A2, TENT4A, SLC6A6, SLC5A2, CPSF6, SLC5A1, SLC4A1, SLC3A1, SPACA9, ADAMTS8, ADAMTS5, PRSS23, KRR1, RASSF8, PDCD10, ZHX1, SLC6A14, CCL14, CCL11, ANKRD6, CARD8, SACM1L, FAN1, CCL3, NCBP2, ATF6, SEPHS2, SCNN1A, SCAP, SCN4B, SCN3A, TRIM32, SCN2A, PAXIP1, NT5C2, SCN1B, INPP5F, DZIP1, FASTKD2, SDHA, HRH3, XPOT, NRM, USP18, TREX1, SEC14L1, ECD, SEA, SYNPO, CNKSR2, SDF2, CLCA4, IKZF3, IKZF2, ATF5, PUF60, CHSY1, CILK1, SDS, IMMT, GREM1, PAICS, STX3, TRIM3, STX1A, STK4, NPRL2, CAMKK2, YKT6, SPINT2, KHDRBS3, ST2, CD226, CGRRF1, SSR1, GNA13, DLL3, RO60, SRMS, SRI, SLC12A7, STYX, PAIP1, SLC22A1, CDC42EP3, APPBP2, HNF1A, TCEA3, DDX17, TCEA2, TCEA1, TBX5, TBP, TBL1X, TALDO1, IFI44, TAF7, SYN1, VAMP7, NPC2, GNLY, VAMP1, PRPF8, SULT1C2, OGA, NFAT5, SRD5A1, YME1L1, SNRPN, SNRPD1, CPSF4, JTB, GADD45G, EDAR, COPS8, SNAPC1, SIGLEC1, SMN2, TMED2, SMN1, SMARCC1, SMARCB1, EBNA1BP2, SLIT3, SLC22A5, COPS6, KCNQ1OT1, WDR3, C1QL1, SORD, CYSLTR1, MAP3K2, SPRR1A, PLK2, ZMYND11, ARPP21, NEK6, NCKAP1, SPOCK1, SPN, ME3, GJB6, HSPH1, SPINK1, FRS2, ALDH1L1, CD3EAP, SOX12, RUVBL2, ATXN8OS, CEP131, ATXN7, SLC7A11, RAP2A, RAP1B, PRKD3, RAG2, PPIL2, ARHGAP8, IFIT5, SHC2, RASGRP3, RAB5B, BRI3, RAB3A, TNFAIP8, TXN2, PYGM, POU2F3, PYGB, ASF1A, ARMC8, CEMIP2, RAP2B, ATXN1, EDC4, RBMY1A1, CABIN1, RBMS2, NNT, MMD, ATP6V0A2, TSPAN12, RBL1, PADI4, PRG1, CASP14, ARID4A, FAM215A, RARRES1, PHLDA3, RARS1, RUSC1, CBLC, RAPSN, PRKD2, RAD1, PAMR1, PTPRN2, PTGER3, PTGER2, PSMD7, SPAG8, PTTG3P, FBXW8, PSMD2, PLA2G2D, PSMD1, FGF21, EHF, PSMB9, PYY, PSMB8, PSMB7, PSMB5, PSMB4, PSEN1, RGS17, WSB1, TANC2, HERC4, VIRMA, TMEM158, PTPRM, PTPRK, ZDHHC5, CLIC4, PTPRG, NECTIN3, SYF2, EGFL6, RAI14, NGDN, L3MBTL1, RPAP1, PTMAP4, PTMA, TWF1, GIGYF2, PTK7, POFUT1, RENBP, ISCU, TMEM131L, RTN1, RTKN, ANKLE2, RPS27A, RPS19, RPS16, LPIN1, RFTN1, DIP2A, PHLDB1, CYFIP1, FBXL7, GSE1, ARL6IP1, MLC1, RPL36A, RPL39, RPL29, RPL24, RXRG, CUL9, RYR3, PDS5B, RAB21, SAT1, FAIM2, TSPAN31, USP33, SALL2, MYT1L, TNIK, ACSM3, KIF1B, ZHX3, VPS52, S100A12, CMTR1, HECW1, PEG10, S100A2, ARHGAP26, SIK2, PDS5A, TRAM1, RPL13, SRGAP2, RNU2-1, ECPAS, PIP5K1C, RNF6, RN7SL1, RMRP, ZFPM2, RHEB, TMED3, RYBP, GPR161, RHOQ, TARDBP, OTP, SF3B3, RHAG, RGS3, CBX6, PUM2, RNY1, ARHGEF12, MGRN1, MINAR1, OTUD3, DDHD2, CAMTA1, MCF2L, ADGRL2, ADGRL3, RPL7A, RPL5, ZNF629, NEMP1, DMXL2, DNAJC13, TUT4, NEDD4L, SYNM, ROM1, SUN1, SEMA4F, SEMA6B, TCF12, SCAF11, RASSF9, BUB3, CHAF1B, SLC16A7, GDF5, AKAP1, COIL, MSC, ST8SIA2, GCM2, GPR50, ANP32A, CACNA2D2, GPR68, DPF3, GPR55, S1PR2, CD83, CDK2AP1, ESS2, TMSB10, MACROH2A1, KDM5C, USP6, USP2, H2BC10, H2BC6, H2BC7, H2BC8, H2AC20, SLC16A6, FZD6, CNOT9, PRPF4, PRPF3, CCNB2, BRAP, ARHGEF1, ATG12, PDCD5, HGS, DYRK1B, COPS2, ALX1, TRIP4, AD5, SLBP, SEMA3B, SCLC1, KIF23, RPH3AL, ADAMTS4, ADAMTS3, ADAMTS2, LRP8, GAL3ST1, PTP4A1, MEMO1, SCAMP1, ZYX, TP53I11, ZNF236, IGDCC3, RAB3D, APBA3, PCYT1B, LAP, ITM2A, STOML1, CNOT8, RPL23, MLF2, LHX2, ITGBL1, CSRP3, RAB9A, NRXN3, LPXN, FZD3, TMPRSS11D, FADS2, CYP7B1, ST7, NCR2, MED23, MED7, ITM2B, H2BC21, DNAJA3, PKMYT1, HAT1, TMEFF1, CDKL1, PRKRA, PDLIM4, FGF17, CES2, MADD, YARS1, TCAP, GGH, CDC14A, AP3B1, PIR, BARX2, CAMK1, YBX3, AKAP4, ALDH1A2, GAS7, RGS20, NOP14, PLA2G4C, RNMT, EIF3G, EIF3D, GALNT4, B3GALT4, EIF3C, TRADD, TNFRSF25, EED, LAMTOR3, RUVBL1, ABCB11, KCNK5, AOC3, RTCA, UNC5C, TNFRSF14, PSMG1, RGS11, LDB1, MMP23A, BPY2, MMP23B, USP13, RASAL1, RPS6KA4, TNFSF18, LTBP4, SNHG3, SPARCL1, PLA2G10, CLIC3, BRSK2, PLA2G6, BAZ1B, CCRL2, TAAR5, DOK2, PIP5K1A, CLDN12, ASH2L, CLDN10, P4HA2, MGAM, KYNU, EIF2B5, PIK3R3, SGPL1, FUBP1, ZPR1, SLC5A6, GEMIN2, EIF2B4, EIF2B2, CPNE3, CUL4B, CDC42BPA, CCNA1, AP1S2, IRS4, CACNA1G, KLF11, MBD4, CUL2, ZNF224, VEZF1, TCF20, TNNC1, FAM13A, TNFAIP6, MBNL2, ABI2, TNFAIP2, WASF2, CLDN5, TMOD1, TSHZ1, ALG3, TSPAN8, MPHOSPH10, DHRS2, MPZL2, NR2E1, USPL1, SEC62, PSMD14, PRG4, CLEC3A, TNNT1, ZNF131, TOP2B, SH2D3C, DNAJB6, SMC4, UBA2, SAE1, TRAF3, TRAF1, IL18BP, DPP3, HUWE1, TPM3, GPC6, PPIF, TPH1, KIF20A, ACTR1B, RASGRP1, PDIA6, TOP3A, ANGPTL7, KLRG1, GDF11, TRIB1, IRF9, BTN3A3, CPQ, BASP1, TF, IFI30, TEP1, TEAD1, MERTK, TDGF1, ZNHIT1, TDG, TIMM44, TRBV20OR9-2, CAP2, TCN1, VAT1, STK25, ENOX2, TFE3, CACNG2, TRIM22, TJP1, TLN1, RASGRP2, TLE4, GPHN, RABEPK, SPRY2, STAM2, ZMPSTE24, STAG1, THBD, TIAL1, LILRB2, THOP1, APBB3, LANCL1, THBS4, SMYD5, TFG, TRO, TROAP, FRAT1, TM9SF4, CEP135, SAFB2, EIF5B, IPO13, VRK2, VGLL4, UBE3C, CROCC, CEP57, BEST1, USP6NL, NOS1AP, VLDLR, VIPR2, DOCK4, VCP, VCL, SLK, USH2A, ZNF516, SOCS5, MICAL2, NFE2L3, ZNF121, BABAM2, CDC42BPB, ZNF24, ZNF23, WTAP, CNBP, PITPNM1, CARTPT, WNT6, ZIC1, ZAP70, YWHAE, YES1, WNT9A, WNT7A, FEZ1, ZNF592, USF2, PIEZO1, SH2B3, UCK2, KBTBD11, PUM3, TNFSF4, HS3ST3B1, HS3ST3A1, USP3, TNFSF15, TTR, MED13, CCS, NR1D2, FGFBP1, TTF1, SLC12A6, TSTA3, EIPR1, TSPY1, TSHR, TRPC6, SEC16A, ARNT2, ATP2C2, PPP1R26, UMOD, IST1, UCHL3, ARHGEF11, TRIM14, UBE2V2, ZBTB24, HEPH, MAGI2, MRC2, TLK1, UBE2D3, TOX4, UBE2D2, RHOBTB1, NUAK1, FIG4, UBAP2L, MYEOV, PRSS8, EIF2A, LBP, LAMP2, HACE1, LAMP1, LAMB3, LAMA5, MICAL3, LAMA3, PCDH10, KIF17, KRT81, WDR48, TSHZ3, KIAA1522, KRT2, KRT1, EPB41L5, CHD8, KIF22, USP37, MAVS, NLGN4X, LRP2, LCP1, CORO1B, VARS2, SLC39A10, SELENON, FADS1, LIMK2, SENP7, ZNF304, TTYH1, RHOJ, LIG1, LHB, SPC25, SLC24A3, NDRG3, BIRC6, TBC1D24, GRAMD1B, LDHC, MIER1, KLC1, NCOA5, KIR2DL3, JUP, JAK3, ITPKA, ITIH4, C12orf10, EDA2R, ITIH2, HPSE2, IGAN1, ALX4, ITGAX, ITGAM, ITGA7, PROK2, ITGA1, CHP2, NECAB3, IRF4, TP53AIP1, SCPEP1, KCNA1, SIGIRR, CTDSP1, KIF5B, G6PC2, LSM2, CCDC181, KIF5A, MUC3B, RBPJP4, KIF3C, KCNN4, UBL5, TP53INP2, CREBZF, RPRD1B, OVOL2, OPRPN, SCAF1, KCNK1, HIVEP3, GJC2, RALGAPB, SNORD24, VPS11, SELENOS, CISD1, USE1, MEFV, MEF2A, RCC2, ADAM11, AJAP1, SLC50A1, KLHL7, MCM5, PCDHG@, PCDHB@, PCDHA@, TEX15, TEX14, RNF17, MC1R, MBD1, DCAF6, MAP3K4, LSS, DOK5, RABL6, MICB, VAC14, CCDC88A, IPO9, CD99, IQCC, ASF1B, HHAT, MGAT1, PARVA, MFAP4, INAVA, H2AJ, ZNF415, DEPDC1B, CSGALNACT1, CACNA2D3, FOXJ2, RNF20, CPXM1, MAX, PARD3, SMAD6, ENY2, SMAD5, RGMA, PARP6, NBR1, KIF15, CAPRIN1, CTNNBIP1, LYZ, CCNL1, LY75, LTBR, CYSLTR2, KMT5AP1, REXO4, CAMK1D, CD177, RTN4, DUSP22, ARNTL2, CA10, JPH1, SLC7A10, DNAJC12, MMP26, EIF5A2, MATN1, CLDND1, MATK, MAT1A, MAP2, MAGEA5, BARHL1, MAGEA12, BDH2, THAP10, MAP3K7CL, C1GALT1, NMUR2, PAK6, ERVK-6, PERP, CDH23, ALPK1, WDR26, HOXA6, CPEB4, ZKSCAN3, HNRNPF, COASY, HMGCS2, TSGA10, HMBS, ASXL3, EEPD1, DUSP16, KDM7A, HLA-E, HLA-DRB5, ILKAP, HLA-DRB3, HLA-DRA, HLA-DOB, HOXB1, HOXB2, PBLD, HKDC1, MAP9, HDAC11, GGNBP2, PRR5L, CYBRD1, SETD6, HOXD3, HOXD1, SCD5, CPED1, HOXC6, STN1, ESRP2, C10orf88, HOXC@, TRIM46, HOXB8, HOXB4, MUS81, ITFG1, SLC38A1, TMX1, GDPD5, PITPNM3, HELLS, NUF2, HARS1, HADHA, TEX101, PARP9, TRAPPC9, H2BC5, RIOK1, GZMM, MARVELD1, GUCY2D, ATAD3B, RAB34, TBC1D10A, GYPE, CDCA7, LRMDA, QTRT1, CFH, MED25, DOCK8, TDRD3, MAGED4B, TXNDC5, ACTL8, CDT1, DIAPH3, HK1, HIVEP2, PPP1R14C, CFHR1, ADAMTS12, TLR10, SLCO5A1, UBE2K, VANGL1, TRIM56, HIP1, SPRY4, CBLL1, CPSF7, CSPP1, IFNGR2, NUCKS1, ACBD3, ILF2, IL12B, DEPTOR, CYP3A43, FBXL17, NIBAN2, NABP1, PAPOLG, CENPH, PINK1, CDK15, IGHMBP2, IGHG3, IFNW1, ZFP69B, WNK2, DLK2, IMPDH1, GIGYF1, CPEB1, P3H1, MCCC2, PARVG, INPPL1, CENPK, RTP4, MAGEF1, SLC39A8, INPP5D, PDLIM2, IMPDH2, ARHGEF28, INHBB, SIL1, HHIP, CDH22, INCENP, DCLRE1C, ATG3, CUEDC2, IFNGR1, FAM124B, IFNAR1, FOXN2, NDST1, DNAJB1, RIOX1, HSPE1, MORC4, NPEPL1, TBL1XR1, HSP90AA2P, HSPA1A, RERGL, FBXO31, SHCBP1, HAND2-AS1, HRH1, ERAS, HPX, HPS1, AGBL2, HTN3, NLRX1, PPP1R3B, MMEL1, PVRIG, DDX54, IFN1@, CFI, FA2H, IDS, TMEM43, IRX3, IDH1, HTR1B, HMGN5, NKAP, ID2, ICAM4, CERS4, NAA16, IAPP, HUS1, NBPF1, RNF126, ATXN3, ABCB4, PGM3, DEF6, GEMIN4, ANO7, PGD, NEUROG3, PGAM1, TRAT1, HEBP1, PFKP, DERL2, PFKFB2, MRPS18C, PRLH, PFDN4, LAP3, RPS27L, APIP, TMX2, GALNT9, PHF2, ANAPC7, NOX3, OBP2A, ERO1A, PLA2G2A, PKLR, PKD3, SOX8, VSX1, PITX1, PIK3C3, SOCS7, EHD2, PIK3C2B, TAX1BP3, PIK3C2A, SERPINB9, RRM2B, SERPINA1, G0S2, PHKG2, PENK, CRYL1, PEG3, SH3GLB1, DNAJC27, TLR7, GMPR2, CD320, ZDHHC3, ARMCX1, SLC25A37, CDK18, PLAC8, SPG21, CDK16, DACT1, PCSK5, TAOK3, PCSK1, ZMYND10, PCNT, PRKAG2, POLK, PIPOX, NT5C3A, PHF20, LINC00328, PHF20L1, PDK4, PDHB, INSIG2, CHCHD2, PDGFB, PDE8A, SLC45A2, JPT1, CLDN18, EGFL7, DBR1, PDE4B, PDE4A, PDCD2, GPN3, NIN, ZDHHC2, SLC39A2, RHOD, NRBF2, DESI1, PKIB, GNMT, PRKACG, PRKACA, PCDH17, PRIM2, HPLH1, RND1, PRIM1, TNRC6A, PRB4, NPY4R, UBE2S, PPT1, PPP5C, PPP3R1, PCSK1N, PPP4C, STK39, PRKCE, PRKCH, INTU, MAP2K3, CHORDC1, PRSS3, CYFIP2, TPK1, PROC, ZBTB32, ACAD8, PRM1, LAMP3, CPNE7, MAPK13, MTBP, MAPK10, B3GAT1, PRKCSH, DKK4, PRKCQ, INPP5J, PPP2R5E, EML4, PLAGL2, SLCO4A1, PLXNA2, TMOD4, PLTP, CYP2S1, REPIN1, TRPM5, CNOT7, TRA2A, GPSM2, CCDC106, GPR132, DSE, PKN3, ANAPC4, DNMT3L, PLCB4, IL19, SLC25A24, PRICKLE4, PNMT, UBL3, PON2, NOB1, SLCO3A1, SLCO1B3, REM1, PPP2R1A, PPP2CA, PPP1R7, PPP1R3C, MAGEH1, NTMT1, CFAP20, PPP1CA, HIPK2, KLF15, PPID, NDUFAF4, PHPT1, PPAT, LGALSL, SNX9, SCARA3, BCAS4, NCAPG2, CDKAL1, NDUFB9, NDP, DUSP23, ADPRS, SOHLH2, SDHAF2, C1orf109, TIPIN, PIGX, NCAM2, TMEM70, MYO6, PIH1D1, CDCA4, TRMT12, SUSD4, MYO5A, MYO1D, NDUFS4, UHRF1BP1, PCBP1, ANKHD1, RRN3, MARCHF5, NFIL3, NFIC, NFIB, NFE2L1, ZRANB1, NFATC4, BTG4, NFATC1, MED18, TRIT1, DYM, GIPC2, NEFH, LRRC49, NEFM, GDPD2, ST7L, TMEM45A, ARGLU1, MYO1C, GPATCH2, MSH4, STYK1, PI4K2A, IMPACT, LGR4, LRRC59, BATF3, MNAT1, MMP12, PLXNA3, SUPT20H, TENT5A, OTUB1, MLN, PRR5, STAP2, THUMPD1, CHD7, SLC48A1, COX3, CASC1, MTM1, MAP1S, MYL4, ARHGAP17, MYH6, PNPO, MRPS18A, MMUT, MUC5AC, PLEKHG6, MUC3A, ND2, MTX1, ATAD3A, ND5, ND4, ND3, LRRC1, UBA6, OGFOD1, CRLS1, UGT1A4, PAF1, NUP88, LARP7, AZIN1, TRIM33, SIX6, EEF1AKNMT, PIGT, OPCML, CHMP3, RASD1, OGN, MPC1, OGDH, NLK, OAZ1, ACSL5, ZNF44, RAB23, RAPGEF6, GHRL, ORC4, OTX1, OTX2, REG3A, VGLL1, REV1, NAT8B, LIMA1, PARN, RTCB, TRIAP1, UFC1, ETV7, IL23A, DTL, TMEM14C, ANAPC11, PAH, P4HA1, P2RY6, OXT, RAB6B, NR4A2, RTEL1, CCNJ, ROR2, NPPB, PNP, SLC38A2, DNAJC10, SSH1, NOVA2, NOVA1, RIN2, TAF7L, CNOT3, DGCR8, NODAL, CCHCR1, EPB41L4B, UGT1A6, NKX3-1, LZTFL1, NID1, DDX56, NPR1, CYCS, NANS, BCO1, KDM3B, NTRK2, NTF4, IL17D, TM6SF1, LRP1B, NRL, STX18, PRKAG3, CHRAC1, NRDC, SLC11A2, IL20RA, FGFRL1, DUOX1, SLC37A1, SETD4, NPY5R, NRG2
    • Breast Cancer Mayo_clinic
      Overview Breast cancer is cancer that forms in the cells of the breasts. After skin cancer, breast cancer is the most common cancer diagnosed in women in the United States. Breast cancer can occur in both men and women, but it's far more common in women. Substantial support for breast cancer awareness and research funding has helped create advances in the diagnosis and treatment of breast cancer. Breast cancer survival rates have increased, and the number of deaths associated with this disease is steadily declining, largely due to factors such as earlier detection, a new personalized approach to treatment and a better understanding of the disease.
  • Overgrowth Syndrome Wikipedia
    Group of rare genetic disorders involving tissue hypertrophy Overgrowth syndrome Overgrowth syndromes in children constitute a group of rare disorders that are characterised by tissue hypertrophy. ... Children with some overgrowth syndromes such as Klippel–Trénaunay–Weber syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [2] In general, children with overgrowth syndromes are at increased risk of embryonic tumor development. Contents 1 List of overgrowth syndromes 2 See also 3 References 4 External links List of overgrowth syndromes [ edit ] Examples of overgrowth syndromes include: Beckwith–Wiedemann syndrome CLOVES syndrome Fragile X syndrome Klippel–Trénaunay–Weber syndrome Macrocephaly-capillary malformation Neurofibromatosis Proteus syndrome Simpson–Golabi–Behmel syndrome Sotos syndrome Sturge–Weber syndrome Weaver syndrome See also [ edit ] Gigantism References [ edit ] ^ Ko JM (2013). "Genetic syndromes associated with overgrowth in childhood" . ... National Cancer Institute document: "Dictionary of Cancer Terms" . v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome This oncology article is a stub .
    GPC3, IGF2, PIK3CA, PDGFRB, NSD1, DNMT3A, CDKN1C, SETD2, NFIX, H19-ICR, EZH2, HTC2, NF1, RSS, RNF135, EML1, CHD8, RNF125, NSD3, KMT5B, DICER1, KCNQ1OT1, FIBP, EED, TIMP1, TCF20, PTEN, PIK3CG, GPC4, PIK3CB, FGFR3, GPC5, NPR2, NPPC, H1-4, PIK3CD
  • Feingold Syndrome Wikipedia
    Feingold syndrome Other names Oculodigitoesophagoduodenal syndrome Feingold Syndrome is inherited in an autosomal dominant fashion. Specialty Medical genetics Feingold syndrome (also called oculodigitoesophagoduodenal syndrome ) is a rare autosomal dominant hereditary disorder . ... PMID 16906565 . ^ Celli J, van Bokhoven H, Brunner HG (November 2003). "Feingold syndrome: clinical review and genetic mapping". ... ISSN 1098-1004 . ^ "Feingold Syndrome 1 | Hereditary Ocular Diseases" . disorders.eyes.arizona.edu . ... External links [ edit ] Classification D OMIM : 164280 MeSH : C537734 C537734, C537734 DiseasesDB : 33706 External resources GeneReviews : Feingold Syndrome 1 GeneReview/NIH/UW entry on Feingold syndrome v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )
    MYCN, MIR17HG, MYC, NES, LRATD1, MIR17
    • Feingold Syndrome 2 Omim
      A number sign (#) is used with this entry because of evidence that Feingold syndrome-2 (FGLDS2) is caused by hemizygous deletion of the MIR17HG gene (609415) on chromosome 13q31. Description Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. ... For a discussion of genetic heterogeneity of Feingold syndrome, see FGLDS1 (164280). Clinical Features De Pontual et al. (2011) studied 2 female probands with skeletal abnormalities consistent with a diagnosis of Feingold syndrome: microcephaly, short stature, and digital abnormalities including brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs of variable severity, and cutaneous syndactyly of the toes. ... The third patient was not classified as having Feingold syndrome, but displayed a combination of features compatible with the diagnosis. ... In addition, mice harboring targeted deletion of the Mir17-92 cluster displayed a phenocopy of several key features of the human syndrome (see ANIMAL MODEL). De Pontual et al. (2011) stated that this was the first example of a miRNA gene responsible for a syndromic developmental defect in humans.
    • Feingold Syndrome 1 Omim
      Genetic Heterogeneity of Feingold Syndrome Feingold syndrome-2 (FGLDS2; 614326) is caused by hemizygous deletion of the MIR17HG gene (609415) on chromosome 13q31.3. ... Feingold et al. (1997) reported on 6 'new' families (12 patients) with this syndrome, updated the findings of the original families, and more clearly defined the syndrome. ... A review of the 7 families with Feingold syndrome demonstrated that intestinal (esophageal/duodenal) atresia/obstruction occurs in approximately one-third of patients with Feingold syndrome. ... The authors thought that this was first report of distal intestinal atresia in Feingold syndrome. Shetty et al. (2000) described a 12-year-old girl with features of both the syndrome of microcephaly, mesobrachyphalangia, and tracheoesophageal fistula and Rett syndrome (312750). They suggested that this combination may constitute a new contiguous gene syndrome. However, the mapping of Rett syndrome to the X chromosome and the identification of the specific gene defect makes it unlikely that this was conventional Rett syndrome occurring as a contiguous gene syndrome with MMT syndrome, which maps to chromosome 2.
    • Feingold Syndrome Medlineplus
      Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals. Individuals with Feingold syndrome type 1 or type 2 have characteristic abnormalities of their fingers and toes. ... Individuals with type 2 do not have gastrointestinal atresias. Frequency Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown. ... Mutations affecting the MYCN or MIR17HG gene that cause Feingold syndrome prevent one copy of the gene in each cell from producing any functional protein or miRNAs, respectively.
    • Feingold Syndrome Orphanet
      A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures.
    • Feingold Syndrome Type 1 Orphanet
      A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability. Epidemiology The exact prevalence is unknown. Feingold syndrome type 1 (FS1) accounts for the vast majority of FS cases. ... Differential diagnosis Differential diagnosis of FS1 includes FS type 2 (FS2), VACTERL association, CHARGE syndrome, brachydactyly type A4 and Fanconi anemia.
  • Catel–manzke Syndrome Wikipedia
    Unsourced material may be challenged and removed. Find sources: "Catel–Manzke syndrome" – news · newspapers · books · scholar · JSTOR ( May 2008 ) ( Learn how and when to remove this template message ) Catel–Manzke syndrome Other names Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Catel–Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome ; occasionally with additional physical findings. ... Inheritance is thought to be X-linked recessive . [1] References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): 302380 External links [ edit ] Classification D ICD - 10 : Q87.8 OMIM : 302380 MeSH : C535347 DiseasesDB : 33832 External resources Orphanet : 1388 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
    TGDS, IMPAD1, CANT1
    • Catel-Manzke Syndrome Orphanet
      Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis. Epidemiology Catel-Manzke syndrome has been described in more than 33 patients. Clinical description The key feature of Catel-Manzke syndrome is a bilateral hyperphalangy of the index finger in which there is an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. ... Etiology Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in Catel-Manzke syndrome. Diagnostic methods The disease is diagnosed at birth due to the manifestions linked with Pierre Robin sequence and the abnormal index finger. ... Differential diagnosis Differential diagnoses related to the bone abnormalities may include Desbuquois syndrome, Temtamy preaxial brachydactyly syndrome and brachydactyly type C (see these terms).
    • Catel-Manzke Syndrome Omim
      A number sign (#) is used with this entry because of evidence that Catel-Manzke syndrome (CATMANS) is caused by homozygous or compound heterozygous mutation in the TGDS gene (616146) on chromosome 13q32. ... This case differed from classic Catel-Manzke syndrome in having isolated hand malformations without any other malformations, such as cleft palate or cardiac abnormalities. These authors suggested the term 'mandible digital syndrome.' Manzke et al. (2008) presented 2 additional patients with the syndrome. ... Not all patients with Catel-Manzke syndrome show the full range of the Pierre Robin anomaly, and Manzke et al. (2008) suggested that the term 'micrognathia-digital syndrome' is more accurate. ... Ehmke et al. (2014) reported 2 unrelated children with Catel-Manzke syndrome and mutations in the TGDS gene (see MOLECULAR GENETICS).
  • Zori–stalker–williams Syndrome Wikipedia
    Genetic disease Zori–Stalker–Williams syndrome Other names Pectus excavatum, macrocephaly, short stature and dysplastic nail Zori–Stalker–Williams syndrome has an autosomal dominant pattern of inheritance . Zori–Stalker–Williams syndrome , also known as pectus excavatum, macrocephaly, short stature and dysplastic nails , [1] is a rare autosomal dominant [2] congenital disorder associated with a range of features such as pectus excavatum , macrocephaly and dysplastic nails , familial short stature, developmental delay and distinctive facies . [3] [4] Further signs are known to be associated with this syndrome. [5] The name originates from the researchers who first defined and noticed the syndrome and its clinical signs. [1] It is believed that the syndrome is inherited in an autosomal dominant pattern, though there has been no new research undertaken for this rare disease. [1] References [ edit ] ^ a b c Online Mendelian Inheritance in Man (OMIM): Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails - 600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails ^ Zori RT, Stalker HJ, Williams CA (1992). "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". Dysmorphology and Clinical Genetics . 6 : 116–122. ^ Zori Stalker Williams syndrome at NIH 's Office of Rare Diseases ^ "Pectus excavatum macrocephaly dysplastic nails" . Orphanet . ^ ORPHANET - About rare diseases - About orphan drugs [ permanent dead link ] External links [ edit ] Classification D OMIM : 600399 MeSH : C536728 External resources Orphanet : 2835 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome This genetic disorder article is a stub .
  • Urban–rogers–meyer Syndrome Wikipedia
    "Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies". ... PMID 3239569 . ^ "Urban Rogers Meyer syndrome" . Orphanet . Retrieved Aug 29, 2010 . ^ "Urban-Rogers-Meyer syndrome" . Jablonski's Syndromes Database (closed) . NLM . Retrieved Aug 29, 2010 . Further reading [ edit ] Prader – Willi habitus, osteopenia, and camptodactyly; Urban–Rogers–Meyer syndrome at NIH 's Office of Rare Diseases Jablonski's Syndromes Database: Bibliography Camera G, Marugo M, Cohen MM (Nov 1993). ... External links [ edit ] Classification D ICD - 10 : Q87.8 OMIM : 264010 MeSH : C538276 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome This genetic disorder article is a stub .
    • Prader-Willi Habitus, Osteopenia, And Camptodactyly Omim
      Urban et al. (1979) described 2 brothers, aged 19 years and 9 months and 16 years and 8 months, with a previously undescribed condition characterized by genital anomalies, mental retardation, obesity, contractures of fingers, and osteoporosis. Pagnan and Gollop (1988) described a 12-year-old boy with a similar phenotype. The parents were nonconsanguineous. Both the fingers and the toes showed camptodactyly. In addition to osteopenia, the bones of the hands and feet showed tubulation defects and large epiphyses. GU - Genital anomalies Radiology - Osteoporosis - Tubulation defects and large epiphyses in hands and feet Neuro - Mental retardation Inheritance - Autosomal recessive Limbs - Camptodactyly Growth - Obesity - Short stature ▲ Close
    • Prader-Willi Habitus, Osteopenia, And Camptodactyly Gard
      Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. ... Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome , but the authors concluded that it is a different condition.
    • Urban-Rogers-Meyer Syndrome Orphanet
      This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. ... The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
  • Holt–oram Syndrome Wikipedia
    Holt-Oram syndrome Other names Atrio-digital syndrome, Atriodigital dysplasia Holt-Oram syndrome has an autosomal dominant pattern of inheritance Specialty Medical genetics Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome ) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems. [1] The syndrome may include an absent radial bone in the forearm, an atrial septal defect in the heart, or heart block. [2] It affects approximately 1 in 100,000 people. [2] Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 History 6 See also 7 References 8 Further reading 9 External links Presentation [ edit ] All people with Holt-Oram syndrome have, at least one, abnormal wrist bone , which can often only be detected by X-ray . [1] Other bone abnormalities are associated with the syndrome. ... Retrieved 18 April 2018 . ^ a b c d e f g h i j k l McDermott DA, Fong JC, Basson CT. Holt-Oram Syndrome. 2004 Jul 20 [Updated 2015 Oct 8]. ... "Cardiac malformations associated with the Holt-Oram syndrome—report on a family and review of the literature". ... L.; Capobianco, G. (2016-01-01). "Holt Oram syndrome: a case report and review of the literature". ... Further reading [ edit ] GeneReview/NIH/UW entry on Holt-Oram Syndrome External links [ edit ] Classification D ICD - 10 : Q87.2 OMIM : 142900 MeSH : C535326 C535326, C535326 DiseasesDB : 5988 SNOMED CT : 205814003 External resources eMedicine : med/2940 ped/1021 GeneReviews : Holt-Oram Syndrome Orphanet : 392 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )
    TBX5, SALL4, SMOC1, TGFB2, TBX1, BMP4, KLF13, RASSF1, TRIM66, VDR, TPR, TFAP2B, TBX3, TAZ, BCL2, RAC1, PPARG, SERPINA1, PECAM1, PCNA, NFE2L2, MET, LMNA, GJA5, ERG, ATN1, NKX2-5, SRSF2
    • Holt-Oram Syndrome Omim
      A number sign (#) is used with this entry because of evidence that Holt-Oram syndrome (HOS) is caused by heterozygous mutation in the TBX5 gene (601620) on chromosome 12q24. ... The family reported by Kuhn et al. (1963) may be an example of the Lewis type of heart-hand syndrome. Lenz (1968) noted that the involvement of the arms in the Holt-Oram syndrome can be sufficiently severe to simulate thalidomide embryopathy. ... They suggested that the single case of Ockey et al. (1967) had the Holt-Oram syndrome; a similar deletion of the long arm of a group B chromosome was present. ... Fryns et al. (1996) reported a family in which linkage to 12q was excluded, thus demonstrating genetic heterogeneity in the Holt-Oram syndrome. Inheritance The Holt-Oram syndrome is inherited as an autosomal dominant trait (Hurst et al., 1991). ... Clinical reexamination confirmed the presence of features of ulnar-mammary syndrome (UMS; 181450) that were previously unrecognized.
    • Holt-Oram Syndrome Orphanet
      A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Epidemiology Holt-Oram syndrome (HOS) prevalence is estimated at 1/ 100,000 live births (in Hungary), but various cases have been published worldwide. ... Other variable anomalies reported include craniofacial, axillary, tracheal, vertebral and lower-limb anomalies, as well as deafness, abdominal situs inversus and renal abnormalities, but in many cases these findings reflect phenocopy syndromes rather than HOS itself. Etiology HOS is caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1). ... Differential diagnosis Differential diagnosis includes heart-hand syndrome type 2, heart-hand syndrome type 3, brachydactyly-long thumb, SAL4-related disorders (Okihiro and acro-renal-ocular syndrome), ulnar-mammary syndrome, Slovenian type heart-hand syndrome, Fanconi anemia, distal 22q11.2 microdeletion syndrome, VACTERL association, thalidomide embryopathy, fetal valproate syndrome.
    • Heart-Hand Syndromes Wikipedia
      Specialty Medical genetics Heart-hand syndromes are a group of rare diseases that manifest with both heart and limb deformities. [1] [2] [3] [4] As of July 2013 [update] , known heart-hand syndromes include Holt–Oram syndrome , Berk–Tabatznik syndrome , heart-hand syndrome type 3, brachydactyly-long thumb syndrome, patent ductus arteriosus-bicuspid aortic valve syndrome and heart hand syndrome, Slovenian type. [5] Contents 1 Types 1.1 Heart-hand syndrome type 1 1.2 Heart-hand syndrome type 2 1.3 Heart-hand syndrome type 3 1.4 Heart-hand syndrome, Slovenian type 1.5 Brachydactyly-long thumb syndrome 1.6 Patent ductus arteriosus-bicuspid aortic valve syndrome 2 Genetics 3 See also 4 References 5 External links Types [ edit ] Heart-hand syndrome type 1 [ edit ] Main article: Holt–Oram syndrome Heart-hand syndrome type 1 is more commonly known as Holt–Oram syndrome . ... The syndrome includes an absent radial bone in the arms, an atrial septal defect , and a first degree heart block . [6] Heart-hand syndrome type 2 [ edit ] Main article: Berk–Tabatznik syndrome Heart-hand syndrome type 2 is also known as Berk–Tabatznik syndrome . [ citation needed ] Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy . ... It is also known as Heart-hand syndrome, Spanish type. [8] [9] Heart-hand syndrome, Slovenian type [ edit ] Several people in multiple generations have suffered this type. ... A unique feature in the syndrome is symmetric brachydactyly with long thumbs. [11] Patent ductus arteriosus-bicuspid aortic valve syndrome [ edit ] It has been confirmed that Patent ductus arteriosus-bicuspid aortic valve syndrome is a distinct syndrome from an allelic variant of Char syndrome . ... Retrieved 25 July 2016 . ^ "OMIM Entry - # 610140 - HEART-HAND SYNDROME, SLOVENIAN TYPE" . Retrieved 25 July 2016 . ^ a b "OMIM Entry - 112430 - LONG-THUMB BRACHYDACTYLY SYNDROME" .
    • Holt-Oram Syndrome Medlineplus
      Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. ... About 75 percent of individuals with Holt-Oram syndrome have heart (cardiac) problems, which can be life-threatening. ... Cardiac conduction disease can occur along with other heart defects (such as ASD or VSD) or as the only heart problem in people with Holt-Oram syndrome. The features of Holt-Oram syndrome are similar to those of a condition called Duane-radial ray syndrome; however, these two disorders are caused by mutations in different genes. Frequency Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals.
    • Holt-Oram Syndrome Gard
      Holt-Oram syndrome affects the bones of the hands and arms and may also affect the heart. People with Holt-Oram syndrome have at least one bone in the wrist that did not form (develop) normally. ... Holt-Oram syndrome is caused by genetic changes (pathogenic variants or mutations ) in the TBX5 gene . The syndrome is inherited in an autosomal dominant manner. A diagnosis of Holt-Oram syndrome may be suspected when a person has symptoms of the syndrome.
    • Heart-Hand Syndrome Orphanet
      Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).
    • Holt-Oram Syndrome Gene_reviews
      Summary Clinical characteristics. Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. ... Diagnosis Clinical diagnostic criteria for Holt-Oram syndrome have been established and validated through molecular genetic testing [McDermott et al 2005]. ... Molecular testing approaches can include single-gene testing and – if the phenotype includes features that are atypical for Holt-Oram syndrome – a multigene panel . Though rare, chromosome rearrangements involving 12q24 have been reported in individuals with Holt-Oram syndrome [Li et al 1997, Basson et al 1999]. ... Nomenclature HOS has been referred to as heart-hand syndrome, a nonspecific designation that could apply to any number of conditions with involvement of these structures. Prevalence HOS is the most common of the heart-hand syndromes. The estimated prevalence of HOS is between 0.7 and 1 per 100,000 births [Elek et al 1991, Barisic et al 2014].
  • Impossible Syndrome Wikipedia
    Unsourced material may be challenged and removed. Find sources: "Impossible syndrome" – news · newspapers · books · scholar · JSTOR ( March 2017 ) ( Learn how and when to remove this template message ) Impossible syndrome Other names Chondrodysplasia situs inversus imperforate anus polydactyly Impossible syndrome has an autosomal recessive pattern of inheritance. Impossible Syndrome , is a complex combination of human congenital malformations ( birth defects ). [1] The malformations include chondrodysplasia (improper growth of bone and cartilage), situs inversus totalis (chest and abdominal organs all a mirror image of normal), cleft larynx and epiglottis , hexadactyly (six digits) on hands and feet, diaphragmatic hernia , pancreatic abnormalities, kidney abnormal on one side and absent on the other side, micropenis and ambiguous genitalia , and imperforate anus . Only one case of Impossible Syndrome has been reported; the infant was premature and stillborn . Contents 1 Genetics 2 Diagnosis 3 References 4 External links Genetics [ edit ] The inheritance of Impossible syndrome is suspected to be autosomal recessive , which means the affected gene is located on an autosome , and two copies of the gene - one from each parent - are required to have an infant with the disorder. ... External links [ edit ] Classification D External resources Orphanet : 1424 Overview at Orphanet v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome This genetic disorder article is a stub .
  • ←
  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • 7
  • 8
  • 9
    • ...
  • 556
  • 557
  • →

FindZebra

contact@findzebra.com