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Proteus Syndrome Wikipedia

human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels Proteus syndrome Other names Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, Wiedemann syndrome A 7-year-old boy with Proteus syndrome, confirmed to have the AKT1 p.E17K somatic variant Specialty Medical genetics Proteus syndrome is a rare disorder with a genetic background [1] that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. [2] The clinical and radiographic manifestations of Proteus syndrome are highly variable. Yet, the orthopedic manifestations of the syndrome are unique. [3] [4] The syndrome is named after the Greek sea-god Proteus , who could change his shape. ... "Orthopaedic manifestations of Proteus syndrome in a child with literature update" . ... , Article in The Daily Telegraph External links [ edit ] Classification D OMIM : 176920 MeSH : D016715 DiseasesDB : 30070 External resources eMedicine : derm/721 ped/1912 Orphanet : 744 GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS) v t e Phakomatosis Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma ( Pallister–Hall syndrome ) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Neurofibromatosis Type I Type II Other Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis 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

Noonan Syndrome With Multiple Lentigines Wikipedia

Rare autosomal dominant multi-system genetic condition Noonan syndrome with multiple lentigines (NSML) Other names LEOPARD syndrome, cardiocutaneous syndrome, Gorlin syndrome II, lentiginosis profusa syndrome, progressive cardiomyopathic lentiginosis, [1] : 550 Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Moynahan syndrome Three-quarter facial view, first-generation patient showing slight prognathism and low set ears Specialty Medical genetics Noonan syndrome with multiple lentigines ( NSML ) which is part of a group called Ras / MAPK pathway syndromes, [2] is a rare autosomal dominant , [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase , non-receptor type 11 gene ( PTPN11 ). ... PMID 19467855 . ^ Coppin BD, Temple IK (1997). "Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)" . ... PMID 9222968 . ^ Tullu MS, Muranjan MN, Kantharia VC, et al. (1 April 2000). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma" . ... S2CID 19570040 . ^ a b c d LEOPARD Syndrome at eMedicine ^ "LEOPARD Syndrome" . ... NSML at NIH / UW GeneTests Gorlin's syndrome II at Who Named It? DermAtlas 981603547 Dermnetnz DermIS 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

PTPN11, RAF1, BRAF, MAP2K1, SOS1, PTEN, KRAS, HRAS, SHOC2, EPHA2, SOS2, RRAS, RIT1, LZTR1, RASA2, RASA1, NRAS, PPP1R13L, MRAS, MAP2K2, PPP1CB, A2ML1, AKT1, MAPK3, MTOR, NF1, PIK3CG, TSC1, CDC73, TESC, SASH1, ZHX2, DSP, EGF, EPHB2, FBN1, MAPK1, FXN, SLC12A3, GAB1, IRS1, NFATC4, PIK3CA, PIK3CB, PIK3CD, MAP2K7, ACP1

Noonan Syndrome With Multiple Lentigines GeneReviews

Dysmorphic facial features are similar to those seen in Noonan syndrome, although usually milder [Digilio et al 2006]. ... Prevalence The population prevalence of NSML is not known. Differential Diagnosis Turner syndrome, found only in females, is distinguished from Noonan syndrome with multiple lentigines (NSML) by demonstration of an X-chromosome abnormality on cytogenetic studies. ... Lentigines are not described in Watson syndrome. Heterozygous pathogenic variants in NF1 are causative. Costello syndrome (CS) shares features with NSML, NS, and CFCS. ... NSML should be distinguished from other syndromes with developmental delay, short stature, congenital heart defects, and distinctive facies, especially Williams syndrome.
Leopard Syndrome 1 OMIM

Mutation in the PTPN11 gene also causes Noonan syndrome-1 (NS1; 163950), a disorder with features overlapping those of LEOPARD syndrome. ... Genetic Heterogeneity of LEOPARD Syndrome LEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (LPRD2; 611554), caused by mutation in the RAF1 gene (164760), and LEOPARD syndrome-3 (LPRD3; 613707), caused by mutation in the BRAF gene (164757). ... Coppin and Temple (1997) pointed out the difficulty of differentiating LEOPARD syndrome from Noonan syndrome (163950) given previous reports of lentiginosis without lentigines. ... Molecular Genetics Digilio et al. (2002) screened for mutations in the PTPN11 gene, known to be mutated in Noonan syndrome, in 9 patients with LEOPARD syndrome (including a mother-daughter pair) and 2 children with Noonan syndrome who had multiple cafe-au-lait spots.
Leopard Syndrome 2 OMIM

A number sign (#) is used with this entry because LEOPARD syndrome-2 (LPRD2) is caused by heterozygous mutation in the RAF1 gene (164760) on chromosome 3p25. For a phenotypic description and a discussion of genetic heterogeneity of LEOPARD syndrome, see 151100. Clinical Features Pandit et al. (2007) reported 2 women with LEOPARD syndrome-2. ... Molecular Genetics Pandit et al. (2007) analyzed the RAF1 gene in 6 individuals with LEOPARD syndrome who did not have mutations in the PTPN11 gene (176876), and identified 2 unrelated patients with heterozygous missense mutations (S257L, 164760.0001 and L613V, 164760.0004).
Noonan Syndrome With Multiple Lentigines Orphanet

Epidemiology Exact prevalence and incidence rates for Noonan syndrome with multiple lentigines (NSML) are not known. ... Mutations are different from those known to cause Noonan syndrome, explaining the distinct clinical phenotype. ... Patients may have an initial diagnosis of Noonan syndrome. Molecular genetic testing may be useful to confirm diagnosis or to distinguish between overlapping syndromes. Differential diagnosis The clinical presentation overlaps significantly with Noonan syndrome and the main distinguishing manifestation is multiple lentigines. Other differential diagnoses include cardio-facio-cutaneous, Costello, and Turner syndromes. Antenatal diagnosis Prenatal diagnosis is possible if a causative gene mutation has been identified in an affected family member.
Leopard Syndrome GARD

LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome: (L)entigines - dark spots on the skin (E)lectrocardiographic conduction defects - abnormalities of the electrical activity of the heart (O)cular hypertelorism - widely spaced eyes (P)ulmonary stenosis - obstruction of the normal outflow of blood from the right ventricle of the heart (A)bnormalities of the genitalia (R)etarded (slowed) growth resulting in short stature (D)eafness There are 3 types of LEOPARD syndrome, which are distinguished by their genetic cause. ... Other cases are caused by mutations in the MAP2K1 gene, and in some cases the cause is unknown. LEOPARD syndrome is inherited in an autosomal dominant manner. It can be inherited from an affected parent, or it can be due to a new mutation in a person with no family history of the condition. Leopard syndrome belongs to a group of related conditions called the RASopathies .
Leopard Syndrome 3 OMIM

A number sign (#) is used with this entry because of evidence that LEOPARD syndrome-3 (LPRD3) is caused by heterozygous mutation in the BRAF gene (164757) on chromosome 7q34. For a phenotypic description and a discussion of genetic heterogeneity of LEOPARD syndrome, see 151100. Clinical Features Sarkozy et al. (2009) reported a patient with LEOPARD syndrome who had poor growth, craniofacial anomalies, short and webbed neck, mitral and aortic valve dysplasia, cognitive deficits, neonatal hypotonia, sensorineural deafness, and seizures. ... Koudova et al. (2009) reported a 17-year-old Czech boy with LEOPARD syndrome. He was diagnosed with tetralogy of Fallot shortly after birth and was also found to have cardiac conduction defects. ... Koudova et al. (2009) noted the phenotypic similarities to cardiofaciocutaneous syndrome-1 (CFC1; 115150). Molecular Genetics In 1 (17%) of 6 unrelated patients with a clinical diagnosis of LEOPARD syndrome, Sarkozy et al. (2009) identified a heterozygous de novo mutation in the BRAF gene (T241P; 164757.0024).

Phakomatosis Wikipedia

Phakomatoses , or phacomatosis pigmentovascularis (PPV), [1] is the term used for a group of rare syndromes [2] involving structures arising from the embryonic ectoderm . ... Non-tumour manifestations can include cataracts and deafness . [8] Tuberous sclerosis (Bourneville syndrome) [ edit ] A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern. ... Individuals with the syndrome also often present with a brain abnormality, [1] leptomeningeal angioma, or glaucoma in the eye. [3] These three physical symptoms can occur in varying degrees of severity, and many individuals with the syndrome won’t present all three complications. [3] The impact of this condition on the brain is dependent on the location of the angioma. ... "Phacomatosis Pigmentovascularis: A New Syndrome? Report of Four Cases". Pediatric Dermatology . 4 (3): 189–196. doi : 10.1111/j.1525-1470.1987.tb00777.x . ... External links [ edit ] Classification D ICD - 10 : Q85 ICD - 9-CM : 759.5 - 759.6 MeSH : D020752 DiseasesDB : 31496 OMIM is an Online Catalog of Human Genes and Genetic Disorders v t e Phakomatosis Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma ( Pallister–Hall syndrome ) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Neurofibromatosis Type I Type II Other Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis

RHOA, TSC1, PIK3CA, ALDH18A1, PIK3CD, PIK3CB, NF1, TSC2, HRAS, GNAQ, ALDH3A2, PIK3CG, VHL, WT1, IKBKG, SNAP29, RASA1, PIGL, ABCA4, AKT1, MEF2C, LAMC2, GNA11, MTOR, CSF2, AP1S1, KRIT1, POSTN

Von Hippel–lindau Disease Wikipedia

ISBN 978-0-443-04345-1 . ^ Frantzen, Carlijn; Links, Thera P.; Giles, Rachel H. (21 June 2012). "Von Hippel-Lindau Syndrome" . Von Hippel-Lindau Disease . ... S2CID 13783714 . ^ Calzada, MJ (March 2010). "Von Hippel-Lindau syndrome: molecular mechanisms of the disease". ... S2CID 29862078 . ^ Kim, JJ; Rini, BI; Hansel, DE (2010). Von Hippel Lindau syndrome . Advances in Experimental Medicine and Biology. 685 . pp. 228–49. doi : 10.1007/978-1-4419-6448-9_22 . ... Check date values in: |access-date= ( help ) External links [ edit ] Classification D ICD - 10 : Q85.8 ICD - 9-CM : 759.6 OMIM : 193300 MeSH : D006623 DiseasesDB : 14000 External resources eMedicine : ped/2417 oph/354 Patient UK : Von Hippel–Lindau disease GeneReviews : von Hippel-Lindau syndrome Orphanet : 892 GeneReviews/NCBI/NIH/UW entry on Von Hippel-Lindau Syndrome Von Hippel–Lindau Disease (VHL) at NINDS Von Hippel–Lindau syndrome at NLM Genetics Home Reference von Hippel–Lindau syndrome at CHORUS Hippel–Lindau disease at Who Named It? Online Mendelian Inheritance in Man (OMIM): 608537 (VHL gene) v t e Phakomatosis Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma ( Pallister–Hall syndrome ) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Neurofibromatosis Type I Type II Other Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis v t e Disorders of translation and posttranslational modification Translation Ribosome : Diamond–Blackfan anemia FMR1 Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Premature ovarian failure 1 Initiation factor : Leukoencephalopathy with vanishing white matter snRNP : Retinitis pigmentosa 33 Posttranslational modification Protein folding Alzheimer's disease Huntington's disease Creutzfeldt–Jakob disease chaperonins: 3-Methylglutaconic aciduria 5 Protein targeting I-cell disease Ubiquitin E1 : X-linked spinal muscular atrophy 2 E3 : Johanson–Blizzard syndrome Von Hippel–Lindau disease 3-M syndrome Angelman syndrome Deubiquitinating enzyme : Machado–Joseph disease Aneurysmal bone cyst Multiple familial trichoepithelioma 1 SUMO OFC10 Other Multiple sulfatase deficiency Hyperproinsulinemia Ehlers–Danlos syndrome 6

X-Linked Agammaglobulinemia Wikipedia

X-linked agammaglobulinemia Other names X-linked hypogammaglobulinemia, Bruton type agammaglobulinemia, Bruton syndrome, sex-linked agammaglobulinemia [1] : 83 The disorder is passed on in an X-linked recessive pattern Specialty Immunology X-linked agammaglobulinemia ( XLA ) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection . ... External links [ edit ] Classification D ICD - 10 : D80.0 ICD - 9-CM : 279.04 OMIM : 300300 MeSH : C537409 C537409, C537409 DiseasesDB : 1728 External resources MedlinePlus : 001307 eMedicine : ped/294 derm/858 GeneReviews/NCBI/NIH/UW entry on X-Linked Agammaglobulinemia v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia 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

PHEX, BTK, CD40LG, UCHL1

Congenital Generalized Lipodystrophy Wikipedia

The absence of adipose tissue where they normally occur causes the body to store fat in the remaining areas. [7] Common cardiovascular problems related to this syndrome are cardiac hypertrophy and arterial hypertension (high blood pressure ). [8] This disorder can also cause metabolic syndrome . ... "Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings". The Turkish Journal of Pediatrics . 37 (3): 241–6. ... "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)" (PDF) . Arq. Bras. Cardiol . 75 (3): 243–8. doi : 10.1590/s0066-782x2000000900006 . ... "An undiagnosed endocrinometabolic syndrome: Report of 2 cases" . Journal of Clinical Endocrinology and Metabolism . 14 (2): 193–204. doi : 10.1210/jcem-14-2-193 . ... Further reading [ edit ] GeneReviews/NCBI/NIH/UW entry on Berardinelli-Seip Congenital Lipodystrophy External links [ edit ] Classification D ICD - 10 : E88.1 ICD - 9-CM : 272.6 OMIM : 608594 269700 612526 613327 MeSH : D052497 DiseasesDB : 34828 External resources eMedicine : article/1113171 GeneReviews : Berardinelli-Seip Congenital Lipodystrophy v t e Disorders of subcutaneous fat Panniculitis Lobular without vasculitis Cold Cytophagic histiocytic Factitial Gouty Pancreatic Traumatic needle-shaped clefts Subcutaneous fat necrosis of the newborn Sclerema neonatorum Post-steroid panniculitis Lipodermatosclerosis Weber–Christian disease Lupus erythematosus panniculitis Sclerosing lipogranuloma with vasculitis: Nodular vasculitis / Erythema induratum Septal without vasculitis: Alpha-1 antitrypsin deficiency panniculitis Erythema nodosum Acute Chronic with vasculitis: Superficial thrombophlebitis Lipodystrophy Acquired generalized: Acquired generalized lipodystrophy partial: Acquired partial lipodystrophy Centrifugal abdominal lipodystrophy HIV-associated lipodystrophy Lipoatrophia annularis localized: Localized lipodystrophy Congenital Congenital generalized lipodystrophy Familial partial lipodystrophy Marfanoid–progeroid–lipodystrophy syndrome Poland 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 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

BSCL2, AGPAT2, CAV1, CAVIN1, PPARG, FOS, LMNA, ZMPSTE24, HNRNPUL2-BSCL2, LEP, KCNJ6, POLR3A, GZMH, FBN1, INSR, GARS1, AGPAT1, ADIPOQ, LPIN1, LPIN2, BEST1, SNAP23, AIFM1, ANGPTL3, SOST, SETD2, SETX, NOX1, SLC2A2, ACAT1, PLIN1, GCG, AGL, APRT, CAV3, DMD, EMD, ETFA, GART, GH1, PDE3B, GZMB, HIF1A, HNF4A, MAT1A, ADRB3, MUC1, PCYT1A, MFAP1

Lipodystrophy, Congenital Generalized, Type 4 OMIM

Rajab et al. (2002) suggested that this group may represent a new clinical syndrome with lipodystrophy at a novel locus. In a follow-up report of these patients, Rajab et al. (2010) emphasized that 1 had multiple cardiac conduction defects, including ventricular and supraventricular tachycardia, bradycardia, and features of long QT syndrome. In addition to skeletal muscle involvement manifest as exercise intolerance and percussion-induced rapid contractions, there was also evidence of smooth muscle involvement, including hypertrophic pyloric stenosis and esophageal dysmotility. ... INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive CARDIOVASCULAR Heart - Long QT syndrome - Atrial fibrillation - Arrhythmia - Tachycardia - Bradycardia ABDOMEN External Features - Protruding abdomen - Prominent umbilicus Liver - Hepatomegaly - Fatty liver Spleen - Splenomegaly Gastrointestinal - Poor feeding - Dysphagia - Constipation - Ileus - Esophageal dilatation - Esophageal dysmotility - Hypertrophic pyloric stenosis - Smooth muscle hypertrophy in the gastrointestinal tract SKELETAL - Joint contractures - Osteopenia - Osteoporosis Spine - Spinal rigidity - Hyperlordosis - Scoliosis - Atlanto-axial instability SKIN, NAILS, & HAIR Hair - Acanthosis nigricans - Hirsutism (less common) MUSCLE, SOFT TISSUES - Muscle weakness, proximal - Muscle weakness, generalized - Exercise intolerance - Percussion-induced muscle mounding (muscle rippling) - Muscle hypertrophy - Prominent muscular appearance - Myalgia - Muscle stiffness - Muscle biopsy shows dystrophic changes - Decreased sarcolemmal immunostaining for PTRF - Secondary loss of sarcolemmal caveolin-3 - Decreased caveolae in muscle tissue - Loss of subcutaneous fat, generalized ENDOCRINE FEATURES - Hyperinsulinemia - Insulin resistance - Acromegaloid features - Decreased growth hormone secretion (1 patient) IMMUNOLOGY - Transient IgA deficiency (1 patient) - Recurrent infections - Defective humoral immunity LABORATORY ABNORMALITIES - Increased serum creatine kinase - Increased serum triglycerides - Abnormal liver enzymes MISCELLANEOUS - Onset in infancy or early childhood - Sudden death due to cardiac arrhythmia may occur MOLECULAR BASIS - Caused by mutation in the RNA polymerase I and transcript release factor gene (PTRF, 603198.0001 ) ▲ Close
Lipodystrophy, Congenital Generalized, Type 3 OMIM

Description Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).
Lipodystrophy, Congenital Generalized, Type 1 OMIM

Description Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. ... The authors pointed out that the Russell emaciation syndrome (Russell, 1951), which does not appear to be mendelian, had been shown to be due to a hypothalamic lesion, usually glioma, and that cerebral gigantism may likewise be of diencephalic origin. ... Van Maldergem et al. (1992) considered Brunzell syndrome, which they suggested includes cystic angiomatosis, to be distinct from Berardinelli-Seip syndrome. ... In congenital lipodystrophy, insulin resistance is present from birth, resulting in hyperinsulinemia, dyslipidemia, and insulin-resistant diabetes with an anabolic syndrome worsened by a voracious appetite. ... In 3 sibs with congenital generalized lipodystrophy and cystic angiomatosis of the long bones, a phenotype designated Brunzell syndrome, they identified a splice site mutation in AGPAT2 (IVS4-2A-G; 603100.0002).
Lipodystrophy, Congenital Generalized, Type 2 OMIM

Description Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004). ... In 3 sibs with the features of congenital generalized lipodystrophy with cystic angiomatosis of long bones (a phenotype designated Brunzell syndrome) they identified a splice site mutation in AGPAT2 (603100.0002).
Congenital Generalized Lipodystrophy GARD

Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat (adipose tissue) in the body. It is part of a group of diseases known as lipodystrophies. Signs and symptoms are noticed from birth (congenital) or early childhood and include high levels of fats (triglycerides) in the blood (hypertriglyceridemia) and insulin resistance (in which the body tissues are unable to respond to the hormone insulin that helps to regulate blood sugar levels) resulting in diabetes mellitus, abnormal accumulation of fat in the liver (liver steatosis) and the accumulation of fat in the heart causing a thickening of the heart muscle ( hypertrophic cardiomyopathy ), which can lead to a heart that does not work well (heart failure) and sudden death. Due to the almost total absence of fatty tissue and excessive growth of muscle tissue, the patients appear very muscular and have visible and prominent veins. They also have dark and thick skin in the body folds (acanthosis nigricans). There are 4 types of the disease that are distinguished by the altered (mutated) genes and by some additional characteristic symptoms.
Berardinelli-Seip Congenital Lipodystrophy GeneReviews

The syndrome was confirmed in 1959 in Norway by Martin Seip, whose affected population originated from the county of Rogaland. In the European literature, the terms "Seip syndrome," "generalized lipodystrophy," "congenital generalized lipodystrophy," or "total lipodystrophy" have been used. Brunzell syndrome is the association of bone cysts and lipoatrophic diabetes mellitus described in five affected African Americans from the same sibship. ... Lawrence syndrome is synonymous with acquired generalized lipodystrophy [Garg 2011]. ... Further diagnoses to consider include the following: In infancy SHORT syndrome Neonatal progeroid syndrome (OMIM 264090) Marfan syndrome, progeroid subtype, caused by pathogenic variants at the C-terminus of FBN1 [Graul-Neumann et al 2010] Neurometabolic lysosomal storage disorders: Gaucher disease type 2, Krabbe disease Russell diencephalic syndrome Leprechaunism: Donohue syndrome (see INSR -Related Severe Syndromic Insulin Resistance) In childhood Familial partial Dunnigan-Koëberling lipodystrophy (OMIM 151660) Rabson-Mendenhall syndrome (see INSR -Related Severe Syndromic Insulin Resistance) Insulin-dependent diabetes mellitus Acquired generalized lipodystrophy (Lawrence syndrome) [Misra & Garg 2003].

Chylomicron Retention Disease Wikipedia

Chylomicrons have a crucial role in fat absorption and transport, thus a deficiency in chylomicron functioning reduces available levels of dietary fats and fat-soluble vitamins. [3] Contents 1 History 2 Genetics 3 Physiology 4 Signs and symptoms 5 Diagnosis 6 Prognosis 7 Treatment 7.1 Proposed Treatment Plan 8 References History [ edit ] Chylomicron Retention Disease, also called Anderson's disease, is an autosomal recessive lipid malabsorption syndrome characterized by abnormally low amounts of cholesterol in the blood. ... Classification D ICD - 10 : E78.6 OMIM : 246700 MeSH : C535460 DiseasesDB : 33188 External resources Orphanet : 71 v t e Inborn error of lipid metabolism : dyslipidemia Hyperlipidemia Hypercholesterolemia / Hypertriglyceridemia Lipoprotein lipase deficiency/Type Ia Familial apoprotein CII deficiency/Type Ib Familial hypercholesterolemia/Type IIa Combined hyperlipidemia/Type IIb Familial dysbetalipoproteinemia/Type III Familial hypertriglyceridemia/Type IV Xanthoma/Xanthomatosis Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease Lipodystrophy Barraquer–Simons syndrome Other Lipomatosis Adiposis dolorosa Lipoid proteinosis APOA1 familial renal amyloidosis 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

SAR1B, PITPNA, MTTP, APOB, IQGAP1, SAR1A, APOA1, GBE1, MT1B, TMPRSS15

Chylomicron Retention Disease OMIM

Clinical Variability Aguglia et al. (2000) described 2 Italian brothers, aged 19 and 12 years, who presented with a clinical diagnosis of Marinesco-Sjogren syndrome (MSS; 248800). They also had very low serum vitamin E concentrations and an absence of postprandial chylomicrons.
Chylomicron Retention Disease Orphanet

Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. Epidemiology About 55 cases have been described to date. Clinical description Chylomicron retention disease manifests in infancy or early childhood. Features include an abnormal lipid profile, failure to thrive, chronic malabsorptive diarrhea, vomiting and abdominal distension in early infancy (1-6 months), and vitamin E deficiency. Cardiomyopathy and muscular manifestations have also been described. Essential fatty acid (EFA) deficiency is especially severe early in life. Poor mineralization and delayed bone maturation can occur. Hepatic steatosis is common and hepatomegaly is reported to occur in about 20% of CRD patients.
Chylomicron Retention Disease MedlinePlus

Chylomicron retention disease is an inherited disorder that impairs the normal absorption of fats, cholesterol, and certain vitamins from food. The features of chylomicron retention disease primarily affect the gastrointestinal system and nervous system. Chylomicron retention disease begins in infancy or early childhood. Affected children have slow growth and weight gain, frequent (chronic) diarrhea, and foul-smelling stools (steatorrhea). They also have reduced blood cholesterol levels (hypocholesterolemia). Some individuals with chylomicron retention disease develop an abnormal buildup of fats in the liver called hepatic stenosis and can have an enlarged liver .

Hypohidrotic Ectodermal Dysplasia Wikipedia

Hypohidrotic ectodermal dysplasia Other names Anhidrotic ectodermal dysplasia , Christ-Siemens-Touraine syndrome [1] : 570 This condition is inherited in an X-linked recessive manner. ... Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. [ citation needed ] Terminology [ edit ] The eponym Christ-Siemens-Touraine syndrome was named after its discoverers: Josef Christ (1871–1948), a German dentist and physician from Wiesbaden , who was the first physician to identify the condition, Hermann Werner Siemens (1891–1969), a pioneering German dermatologist from Charlottenburg , who clearly identified its pathological characteristics in the early 1930s, and Albert Touraine (1883–1961), a French dermatologist who likewise noted and identified additional characteristics of the disease in the late 1930s. [ citation needed ] Notable individuals [ edit ] Michael Berryman , Saturn Award -nominated character actor See also [ edit ] Hermann Werner Siemens List of cutaneous conditions Albert Touraine List of radiographic findings associated with cutaneous conditions List of dental abnormalities associated with cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). ... External links [ edit ] GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia Hypohidrotic ectodermal dysplasia at NLM Genetics Home Reference Classification D ICD - 10 : Q82.4 ICD - 9-CM : 757.31 OMIM : 305100 224900 , 129490 MeSH : D053358 DiseasesDB : 29810 External resources GeneReviews : Hypohidrotic Ectodermal Dysplasia v t e Congenital malformations and deformations of integument / skin disease Genodermatosis Congenital ichthyosis / erythrokeratodermia AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma : Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome XR X-linked ichthyosis Ungrouped Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix EB and related EBS EBS-K EBS-WC EBS-DM EBS-OG EBS-MD EBS-MP JEB JEB-H Mitis Generalized atrophic JEB-PA DEB DDEB RDEB related: Costello syndrome Kindler syndrome Laryngoonychocutaneous syndrome Skin fragility syndrome Ectodermal dysplasia Naegeli syndrome / Dermatopathia pigmentosa reticularis Hay–Wells syndrome Hypohidrotic ectodermal dysplasia Focal dermal hypoplasia Ellis–van Creveld syndrome Rapp–Hodgkin syndrome / Hay–Wells syndrome Elastic / Connective Ehlers–Danlos syndromes Cutis laxa ( Gerodermia osteodysplastica ) Popliteal pterygium syndrome Pseudoxanthoma elasticum Van der Woude syndrome Hyperkeratosis / keratinopathy PPK diffuse : Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Meleda disease syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal : Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate : Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID / KID Other Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris Other cadherin EEM syndrome immune system Hereditary lymphedema Mastocytosis / Urticaria pigmentosa Hailey–Hailey see also Template:Congenital malformations and deformations of skin appendages , Template:Phakomatoses , Template:Pigmentation disorders , Template:DNA replication and repair-deficiency disorder Developmental anomalies Midline Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii Nevus Capillary hemangioma Port-wine stain Nevus flammeus nuchae Other/ungrouped Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia 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 Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors v t e Extracellular ligand disorders Cytokine EDA Hypohidrotic ectodermal dysplasia Camurati–Engelmann disease Ephrin Craniofrontonasal dysplasia WNT Tetra-amelia syndrome TGF OFC 11 Fas ligand Autoimmune lymphoproliferative syndrome 1B Endothelin EDN3 Waardenburg syndrome IVb Hirschsprung's disease 4 Other DHH ( DHH XY gonadal dysgenesis ) BMP15 ( Premature ovarian failure 4 ) TSHB ( Congenital hypothyroidism 4 ) See also intercellular signaling peptides and proteins

EDA, EDARADD, EDAR, EDA2R, TRAF6, IKBKG, TNF, HAND2, GJB6, WNT10A, NFKBIA, FN1, LEF1, CD38, XIST, MADCAM1, CXCR4, NR4A3, GOLPH3, KDF1, BMS1, ORAI1, TNFRSF1A, TNFRSF13B, TAB2, ACACA, STAT1, GH1, CDC42, CTNNB1, EFNB1, EGFR, ELANE, G6PD, GFI1, IFNG, FAS, IFNGR1, KRT19, LTB, PGK1, PGK1P1, PKP1, PTGS2, RAC1

Hypohidrotic Ectodermal Dysplasia GeneReviews

Other types of ectodermal dysplasia that need to be considered include the following: Witkop tooth and nail syndrome (OMIM 189500) Tricho-dento-osseous syndrome (OMIM 190320) HED with immunodeficiency (HED-ID; OMIM 300291) caused by pathogenic variants in IKBKG (formerly NEMO ), the gene encoding the protein nuclear factor kappa-B (NF-kappa-B) essential modulator [Zonana et al 2000, Döffinger et al 2001, Carrol et al 2003] Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency (OMIM 612132) caused by pathogenic variants in NFKBIA [Lopez-Granados et al 2008] Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with hypohidrotic ectodermal dysplasia (HED), the following evaluations are recommended: Initial evaluation of the developing dentition, typically accomplished by palpating the dental alveolus of the infant/toddler to establish if developing tooth buds (which manifest as bulges in alveolus) are present.
Hypohidrotic Ectodermal Dysplasia GARD

Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA , EDAR , or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).
Hypohidrotic Ectodermal Dysplasia MedlinePlus

Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. Reduced sweating can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather.
Hypohidrotic Ectodermal Dysplasia Orphanet

It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms). Epidemiology HED has a prevalence of approximately 1/15,000. CST syndrome is the most frequent sub-type (80% of cases) with an incidence in males of 1/50,000 to 1/100,000 births. ... Mutations in EDA (Xq12-q13.1), encoding the epithelial morphogen ectodysplasin-A of the tumor necrosis factor family, cause the CST syndrome. Mutations in EDAR (2q13), encoding the Ectodysplasin-A receptor, or EDARADD (1q42.3), encoding the EDAR-associated death domain (EDARADD) protein, cause both AR and AD HED.

Pot1 Tumor Predisposition GeneReviews

Autosomal Dominant Tumor Predisposition Syndromes of Interest in the Differential Diagnosis of POT1 Tumor Predisposition View in own window Cancer Type Gene(s) Associated Disorder / Reference Cutaneous melanoma BAP1 BAP1 tumor predisposition syndrome BRCA2 BRCA1 - and BRCA2 -associated hereditary breast and ovarian cancer CDK4 Susceptibility to cutaneous malignant melanoma 3 (OMIM 609048) CDKN2A Hereditary melanoma/pancreatic cancer syndrome (OMIM 606719) MITF Susceptibility to cutaneous malignant melanoma 8 (OMIM 614456) PTEN PTEN hamartoma tumor syndrome (incl Cowden syndrome) TERT Susceptibility to cutaneous malignant melanoma 9 (OMIM 615134) Chronic lymphocytic leukemia Unknown Chronic lymphocytic leukemia (OMIM 151400) Angiosarcoma TP53 Li-Fraumeni syndrome Glioma NF1 Neurofibromatosis 1 NF2 Neurofibromatosis 2 TP53 Li-Fraumeni syndrome EPCAM MLH1 MSH2 MSH6 PMS2 Lynch syndrome Constitutional mismatch repair deficiency 1 1. ... Beginning at age 18 yrs: In persons in families fulfilling LFS or LFL 1 criteria In persons w/personal & family history of non-cutaneous, non-brain malignancies Brain tumors (glioma) Brain MRI w/& w/o contrast Beginning at age 18 yrs LFS = Li-Fraumeni syndrome; LFL = Li-Fraumeni like syndrome 1. See OMIM 151623 for description of Li-Fraumeni like syndrome criteria Treatment of Manifestations The treatments for POT1 -TPD tumors are those used in standard practice. ... Due to the similarity to Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome, it seems appropriate to employ screening similar to that used in LFS. ... Brain tumors (glioma) Brain MRI 2 Consider every 1-2 years depending on family history beginning at age 18 yrs. LFS = Li-Fraumeni syndrome; LFL = Li-Fraumeni like syndrome 1.

Neurofibromatosis Wikipedia

The normal function of the SMARCB1 gene is to encode a protein called SMARCB1 that is part of a larger protein complex whose function is not completely understood. [11] The complex including SMARCB1 plays a role in tumor suppression. [11] The mutation of the SMARCB1 gene causes a loss of function in the complex leading to the formation of tumors indicative of schwannomatosis. [11] Diagnosis [ edit ] The neurofibromatoses are considered as RASopathies and as members of the neurocutaneous syndromes ( phakomatoses ). [22] The diagnosis of neurofibromatosis is done via the following means: [23] Radiograph MRI or CT scan EEG Slit-lamp examination Genetic testing Histology Differential diagnosis [ edit ] Conditions similar to NF include: LEOPARD syndrome [24] Legius syndrome [25] Proteus syndrome [26] Macrodystrophia lipomatosa [ citation needed ] Klippel–Trénaunay syndrome [ citation needed ] Parkes Weber syndrome [ citation needed ] Treatment [ edit ] Surgical removal of tumors is an option; however, the risks involved should be assessed first. [27] With regard to OPG (optic pathway gliomas), the preferred treatment is chemotherapy. ... Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Dolan, Cynthia R.; Fong, Chin-To (eds.). Legius Syndrome . Seattle (WA): University of Washington, Seattle. ... "Orthopaedic manifestations of Proteus syndrome in a child with literature update" . ... National Institute of Neurological Disorders and Stroke - information on Neurofibromatosis Classification D ICD - 10 : Q85.0 ICD - 9-CM : 237.7 ICD-O : M9540/0 OMIM : 162200 101000 , 162091 MeSH : D017253 External resources eMedicine : derm/287 Patient UK : Neurofibromatosis v t e Tumours of the nervous system Endocrine Sellar : Craniopharyngioma Pituicytoma Other: Pinealoma CNS Neuroepithelial ( brain tumors , spinal tumors ) Glioma Astrocyte Astrocytoma Pilocytic astrocytoma Pleomorphic xanthoastrocytoma Subependymal giant cell astrocytoma Fibrillary astrocytoma Anaplastic astrocytoma Glioblastoma multiforme Oligodendrocyte Oligodendroglioma Anaplastic oligodendroglioma Ependyma Ependymoma Subependymoma Choroid plexus Choroid plexus tumor Choroid plexus papilloma Choroid plexus carcinoma Multiple/unknown Oligoastrocytoma Gliomatosis cerebri Gliosarcoma Mature neuron Ganglioneuroma : Ganglioglioma Retinoblastoma Neurocytoma Dysembryoplastic neuroepithelial tumour Lhermitte–Duclos disease PNET Neuroblastoma Esthesioneuroblastoma Ganglioneuroblastoma Medulloblastoma Atypical teratoid rhabdoid tumor Primitive Medulloepithelioma Meninges Meningioma Hemangiopericytoma Hematopoietic Primary central nervous system lymphoma PNS : Nerve sheath tumor Cranial and paraspinal nerves Neurofibroma Neurofibromatosis Neurilemmoma / Schwannoma Acoustic neuroma Malignant peripheral nerve sheath tumor Other WHO classification of the tumors of the central nervous system Note: Not all brain tumors are of nervous tissue, and not all nervous tissue tumors are in the brain (see brain metastasis ). v t e Phakomatosis Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma ( Pallister–Hall syndrome ) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Neurofibromatosis Type I Type II Other Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis Authority control GND : 4171581-0 NDL : 00577300

NF1, NF2

Central Nervous System Tumor Wikipedia

These include tuberous sclerosis , Von Hippel-Lindau disease , Li-Fraumeni syndrome , Gorlin syndrome , Turcot syndrome , Cowden Syndrome and neurofibromatosis types 1 and 2 ( NF1 / NF2 ). [10] Patients suffering from NF1 have higher risks of having schwannomas , meningiomas , and some types of gliomas .

TP53, APC, BAP1, MLH1, SMARCB1, EGFR, EWSR1, EPHB2, SMARCA4, RTEL1, STN1, LRIG1, ACOT11, ETFA, MAML2, SLC25A24, GOLGA3, LRRC31, POLR3B, KIF26B, SLC16A8, LMF1, SMYD3, IDH1, RHBDF1, RAVER2, HEATR3, MDM4, CCDC26, C2orf80, RNU6-1318P, MIR4300HG, RTEL1-TNFRSF6B, TRAF5, WT1, ZBTB16, CDKN2B-AS1, BRAF, SLC35A3, AKT3, AKAP6, POLR2A, PHLDB1, VTI1A, DBT, IDH2, NF2, GFAP, MYCN, NES, BCOR, VEGFA, MAP2K7, MRC1, MYC, NKX2-1, LAMC2, MIR34A, EPO, CSF2, BCL2, MIR200A, MVP, TCL1B, MIR21, F2RL3, KAT2B, PROM1, ULK1, TYR, GSTK1, XRCC6P5, MIR367, MIA, TCL1A, C20orf181, CD24, H3C9P, VHL, COMMD3-BMI1, OLIG2, PWAR4, YAP1, GOPC, KIAA1549, NT5C3A, LIN28A, GAL, PPP1R2C, CD274, SETD2, CD276, MINDY4, PYGO2, SGSM3, AZIN2, SLCO6A1, PRAME, FOXR2, ZHX2, RASSF1, GADL1, AGR2, PARP1, SDHB, TTF1, CTNNB1, DLG3, DRD4, EPHA2, ERCC1, FAP, FGFR1, KAT2A, GLS, H3-3A, H3-3B, HGF, HRG, HSPA4, IGFBP2, IL4, DES, CDKN2A, IL10, CDKN1A, ALK, AMBP, ANXA2, APOD, APOE, AQP1, ATRX, BMI1, BRCA2, DDR1, CALCR, CALR, CAPG, CDH1, CDK4, CXCL8, MAK, TPI1, PLG, MAPK1, PTGS2, PTPRC, RAF1, ROS1, S100A4, SAI1, CCL2, ALB, SLAMF1, SLC6A8, SMO, SOX10, AURKA, TF, PML, PLAU, CD46, PIK3CG, MEN1, MGMT, CD99, MNAT1, MSH2, MT1E, COX2, MTHFR, NRAS, PAWR, PDGFRA, PIK3C3, PIK3CA, PIK3CB, PIK3CD, MTCO2P12

Li–fraumeni Syndrome Wikipedia

Li–Fraumeni syndrome Other names Sarcoma family syndrome of Li and Fraumeni Li–Fraumeni syndrome is inherited via an autosomal dominant manner Specialty Oncology , medical genetics , neurology Li–Fraumeni syndrome is a rare, autosomal dominant , hereditary disorder [1] that predisposes carriers to cancer development. ... Fraumeni, Jr. , who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. [2] This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland ( SBLA ) syndrome . ... Other tumours seen in this syndrome include leukemia , lymphoma , and adrenocortical carcinoma. ... "A Case of Late-Onset Li-Fraumeni-like Syndrome with Unilateral Breast Cancer" . ... Li–Fraumeni syndrome , in the National Library of Medicine Genetics Home Reference (an introduction to the disease) Li–Fraumeni Syndrome by Katherine A Schneider and Frederick Li, in GeneReviews, a section of GeneTests, published online by the University of Washington with funds from the National Institutes of Health Li–Fraumeni syndrome; LFS1 , entry in Online Mendelian Inheritance in Man (OMIM), published by Johns Hopkins University and the National Institutes of Health External links [ edit ] Classification D ICD - 9-CM : 758.3 OMIM : 151623 MeSH : D016864 DiseasesDB : 7450 External resources eMedicine : ped/1305 Orphanet : 524 v t e Metabolic disease : DNA replication and DNA repair-deficiency disorder DNA replication Separation/initiation: RNASEH2A Aicardi–Goutières syndrome 4 Termination/ telomerase : DKC1 Dyskeratosis congenita DNA repair Nucleotide excision repair Cockayne syndrome / DeSanctis–Cacchione syndrome Thymine dimer Xeroderma pigmentosum IBIDS syndrome MSI / DNA mismatch repair Hereditary nonpolyposis colorectal cancer Muir–Torre syndrome Mismatch repair cancer syndrome MRN complex Ataxia telangiectasia Nijmegen breakage syndrome Other RecQ helicase Bloom syndrome Werner syndrome Rothmund–Thomson syndrome / Rapadilino syndrome Fanconi anemia Li-Fraumeni syndrome Severe combined immunodeficiency 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 ) 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

TP53, CHEK2, MDM2, CDKN2A, BRCA2, BRCA1, EGFR, ERBB2, PTEN, PKM, RPS19, IDH1, H2AX, RNASE3, CYP19A1, RAF1, DDX41, MIR605, RUNX1, ANKRD26, AHSA2P, OCLN, DOCK11, SFRP2, SHH, SKP2, SMARCB1, SRP72, TERC, TOP2B, RBM17, ZDHHC9, WT1, BAP1, TWSG1, CREG1, BCL10, RECQL4, PLXNA3, DLL4, AHSA1, RALBP1, CPSF6, AR, NF1, RB1, DCN, B2M, BCL2, CAV1, CD44, CDH1, CDK2, CDKN1A, CDKN2B, CEBPA, CHEK1, CMM, ATF2, DCK, DNA2, PCNA, ESR1, ETV6, GATA2, HIF1A, HSP90AA1, IFNA1, IFNA13, IGFBP7, IRF7, MLH1, MUTYH, ATM, NF2, H3P10

Li-Fraumeni Syndrome GARD

Li-Fraumeni syndrome (LFS) is an inherited condition that is characterized by an increased risk for certain types of cancer.
Li-Fraumeni Syndrome Orphanet

A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers. ... Clinical description The core cancers in Li-Fraumeni syndrome (LFS) are early-onset breast cancer, ACC, soft tissue sarcomas, osteosarcomas, and brain tumors. ... Differential diagnosis Differential diagnoses include hereditary breast and ovarian cancer syndrome, CHEK2 cancer susceptibility syndrome, and constitutional mismatch repair deficiency syndrome.
Li-Fraumeni Syndrome GeneReviews

Summary Clinical characteristics. Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. ... Diagnosis Clinical diagnostic criteria for Li-Fraumeni syndrome (LFS) have been published [Mai et al 2012]. ... Clinical Characteristics Clinical Description Li-Fraumeni syndrome (LFS) is associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. ... Primary and secondary leukemias, especially acute lymphocytic leukemia (ALL), acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS) represent about 2%-4% of LFS cancers. ... It is important to distinguish individuals with CHIP from those with Li-Fraumeni syndrome (LFS), as screening for LFS-related tumors is not recommended for individuals with CHIP [Weitzel et al 2018].
Li-Fraumeni Syndrome OMIM

Description Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. ... Genetic Heterogeneity of Li-Fraumeni Syndrome A second form of Li-Fraumeni syndrome (LFS2; 609265) is caused by mutation in the CHEK2 gene (604373). ... Inheritance Li-Fraumeni syndrome shows autosomal dominant inheritance. ... Basic experimental studies of tissue samples from patients with the Li-Fraumeni syndrome and a mouse model of the syndrome supported this in vivo finding of increased mitochondrial function. ... This same patient also had Sturge-Weber syndrome (185300), which seemingly had not previously been identified in Li-Fraumeni syndrome.
Li-Fraumeni Syndrome 2 OMIM

A number sign (#) is used with this entry because Li-Fraumeni syndrome-2 is caused by heterozygous mutation in the CHEK2 gene (604373) on chromosome 22q12. For a general phenotypic description and a discussion of genetic heterogeneity of Li-Fraumeni syndrome (LFS), see LFS1 (151623). Clinical Features In affected members of 3 unrelated families, 1 family with classic LFS and 2 with LFS-variant, without mutations in the TP53 gene (191170), Bell et al. (1999) identified heterozygous germline mutations in the CHK2 gene (see, e.g., 604373.0001 and 604373.0002). ... Molecular Genetics Vahteristo et al. (2001) analyzed the CHK1 (603078), CHK2, and p53 genes for mutations in 44 Finnish families with Li-Fraumeni syndrome, Li-Fraumeni-like syndrome, or a phenotype suggestive of Li-Fraumeni syndrome.

Coffin–lowry Syndrome Wikipedia

This testing can be used to confirm but not rule out the diagnosis of Coffin–Lowry syndrome because not all affected individuals have a detectable mutation. [6] Treatment [ edit ] There is no cure for Coffin–Lowry syndrome. ... Coffin–Lowry Syndrome . 16 July 2002 [Updated 1 February 2018. ... "Chewing and Swallowing Training Program in Coffin-Lowry Syndrome" . ^ "Coffin Lowry Syndrome - NORD (National Organization for Rare Disorders)" . ... L. (2019, November 11). COFFIN-LOWRY SYNDROME; CLS. Retrieved from https://www.omim.org/entry/303600 ^ "Home" . www.clsf.info . ^ "Coffin–Lowry Syndrome Foundation" . ... External links [ edit ] Classification D ICD - 10 : Q87.8 ICD - 9-CM : 759.89 OMIM : 303600 MeSH : D038921 DiseasesDB : 2934 GeneReviews/UW/NIH entry on Coffin–Lowry syndrome http://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia 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

Mccune–albright Syndrome Wikipedia

The mutation that causes McCune–Albright syndrome arises very early during embryogenesis. ... "Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation" . ... "Fibrous Dysplasia/McCune-Albright Syndrome". Fibrous Dysplasia/McCune-Albright Syndrome Gene Reviews . ... PMID 29192304 . ^ Brown, Rebecca J.; Kelly, Marilyn H.; Collins, Michael T. (April 2010). "Cushing Syndrome in the McCune-Albright Syndrome" . ... External links [ edit ] GeneReviews entry for fibrous dysplasia/McCune–Albright Syndrome Classification D ICD - 10 : Q78.1 ICD - 9-CM : 756.54 OMIM : 174800 MeSH : D005359 DiseasesDB : 7880 SNOMED CT : 726029005 External resources MedlinePlus : 001217 eMedicine : ped/1386 Patient UK : McCune–Albright syndrome Orphanet : 562 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

GNAS, GH1, COASY, MAS1, MEN1, FGF23, POMC, LINC01672, BRS3, CFP, AMY1A, PRKAR1A, SLC34A1, SSTR4, TSHR, AFP, SUCLG1, AIP, LPAR2, POSTN, CXCR6, MEMO1, RNF216, ACKR3, ADRA2B, PITX2, ENPP1, CGA, NT5E, CFD, EDNRA, GBP1, APRT, GHR, AMY1C, GPR42, HRAS, IGF1, IL6, KRAS, AMY1B, ADRA1A, MFAP1, NR3C2, ADCY1

Mccune-Albright Syndrome GARD

McCune-Albright syndrome (MAS) is a disorder that affects the skin, skeleton, and certain endocrine organs (hormone-producing tissues). ... Endocrinous features may include precocious puberty especially in girls (resulting of estrogen excess from ovarian cysts), excess growth hormone ; thyroid lesions with possible hyperthyroidism ; renal phosphate wasting, and, rarely, Cushing syndrome caused by an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney.
Mccune-Albright Syndrome MedlinePlus

McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. ... Less commonly, boys with McCune-Albright syndrome may also experience early puberty. ... In people with McCune-Albright syndrome, Cushing syndrome occurs only before age 2. ... Causes McCune-Albright syndrome is caused by a mutation in the GNAS gene. ... Constitutive activation of the adenylate cyclase enzyme leads to over-production of several hormones, resulting in abnormal bone growth and other signs and symptoms of McCune-Albright syndrome. Learn more about the gene associated with McCune-Albright syndrome GNAS Inheritance Pattern McCune-Albright syndrome is not inherited.
Mccune-Albright Syndrome OMIM

Clinical Features This disorder is called McCune-Albright syndrome or simply Albright syndrome, but should not be confused with pseudohypoparathyroidism (103580), which includes a constellation of features termed Albright hereditary osteodystrophy (AHO). ... Malchoff et al. (1994) reported a 27-year-old woman with McCune-Albright syndrome who had an unusual clinical course. ... See 139320.0009 for discussion of the molecular basis of the association of pituitary tumor with McCune-Albright syndrome. Chanson et al. (1994) reported 5 patients with McCune-Albright syndrome and acromegaly. ... Kirk et al. (1999) presented 5 children (4 girls) with features of McCune-Albright syndrome who had Cushing syndrome in the infantile period (under 6 months of age). ... This suggestion is consistent with the view that the McCune-Albright syndrome is a somatic mutation disorder.
Mccune-Albright Syndrome Orphanet

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). ... In addition to PP (vaginal bleeding or spotting and early development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may occur including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting. Café-au-lait spots usually appear in the neonatal period, but it is most often PP or FD that brings the child to medical attention.

Gastric Cancer OMIM

Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see 120435), familial adenomatous polyposis (FAP; 175100), Peutz-Jeghers syndrome (PJS; 175200), Cowden disease (CD; 158350), and the Li-Fraumeni syndrome (151623). ... Cyclopamine also suppresses cell growth in vitro and causes durable regression of xenograft tumors in vivo. Unlike tumors in Gorlin syndrome (109400), pathway activity and cell growth in these digestive tract tumors are driven by endogenous expression of hedgehog ligands, as indicated by the presence of Sonic hedgehog (600725) and Indian hedgehog (600726) transcripts, by the pathway- and growth-inhibitory activity of a hedgehog-neutralizing antibody, and by the dramatic growth-stimulatory activity of exogenously added hedgehog ligand. ... Molecular Genetics Germline Mutations in Cancer Predisposition Syndromes Carriers of germline mutations in mismatch repair genes (see, e.g., MLH1, 120436) have a 4-fold increased risk of gastric cancer in addition to the high risk of colorectal cancer (Lynch and Smyrk, 1996; Watson and Lynch, 1993). ... Huntsman et al. (2001) noted that hereditary gastric cancer predisposition syndromes and CDH1 (192090) germline mutations contribute very little to the overall load of new gastric cancer cases.

CDH1, PIK3CA, MET, FGFR2, ERBB2, APC, IRF1, KLF6, MUTYH, CASP10, ATM, IL1RN, KRAS, PRKAA1, IL1B, CHEK2, ZBTB20, GKN1, CDKN2A, PPARG, CHFR, CDKN1A, AFP, DNMT3B, DPYD, PTGS2, TYMS, CXCL8, TNF, IL6, XRCC1, MSH2, STAT3, DNMT1, SMAD4, EGFR, HOTAIR, ALB, SNAI1, ERBB3, MYC, MUC1, MTHFR, MAPK3, GAST, SERPINE1, MAPK1, TP53, PSCA, CAV1, RUNX3, TWIST1, FHIT, MMP7, XRCC3, PLCE1, ERCC1, ERCC2, GSTP1, ARID1A, CCND1, CD44, MLH1, REG4, RHOA, APEX1, KRT20, BRAF, PLAU, TIMP3, CASP8, IGFBP3, LGALS3, KLK10, PRKAB1, PRNP, ENO1, CCAT1, ACE, FAT4, CDKN1B, CDK4, HMOX1, ZNRD1, IL32, AHR, SOD2, KMT2C, NOTCH2, AREG, MT2A, NPM1, XAF1, AURKB, BMP2, ARL6IP5, JUN, MAPK8, TGFA, HRAS, ADRB2, DLC1, MUC6, PTPA, ITGA5, MTSS1, F2R, HSPB1, PHB, FSD1, IGFBP7, TYMP, FBP1, PYCARD, SERPINB2, KISS1, WWOX, PRKCB, KMT2A, PAX6, BDNF, BCL2L1, RNF43, UMPS, BIRC5, MSLN, RORA, UBR5, WIF1, SCRN1, MIA, PDHA1, NOS3, ECM1, ATR, ING1, CLCN3, RARRES1, SLC1A2, LRRC3B, CST1, DCBLD2, POLE, EEF1A2, SPZ1, MIR22HG, PLAGL1, TNFRSF9, ECHS1, KISS1R, NBAS, HBEGF, HSPA8, AXIN2, CLDN3, BAP1, NT5E, ICAM2, HSPD1, PRDX5, PPIA, RGS2, SLC16A3, RARB, AKR1C3, GLI3, TBX3, FGG, RPS6, SERPINA1, CKB, KRT8, ANXA5, THBD, ALOX5, COPS7A, PTPRG, HIKESHI, MMP10, EBI3, BNIP3, MSX1, MLF1, FADS1, BID, FAM168A, RBP1, IL6R, NOP56, RPS15, ZNF667-AS1, M6PR, SNX5, ADRB1, MRPS18B, MRPL13, CLN3, SREBF2, HRH4, FST, RPL15, ATP6V0D2, SUCLG1, ZNF177, ALDH7A1, RBP4, NAXD, RXRB, EPHX3, CTSC, ZNF593, FILIP1, UBXN1, CDKN2D, RPL13, SPRR2A, AGTR2, RRP9, CCT7, EXOSC5, HNRNPL, IRS2, MARK1, CTNNA2, CST7, CTSL, RPS21, DES, ACAD8, RAD23A, CYP2A6, RANBP10, GADD45A, HOXA2, DDB1, PLPP1, ABT1, DPAGT1, ITGA8, BOP1, ID4, MRPS11, TRAP1, TNFSF9, PGAM1, RPS26, EEF1A1, IDH3B, ALDH1A3, RPS19, HTR1A, NDUFA2, APOA1, NDUFS1, ALDOB, BIRC2, NDUFV1, CDH2, CPSF1, RPL18, SNRPB, PPP2R1A, WDR46, TFAP2C, PA2G4, PREP, SYMPK, FKBP2, TUBA1C, POLR3K, ARFGAP2, PTPRT, PTOV1, CA2, FCGBP, TMEM63A, BLVRB, ACTC1, PUS1, MBD3L2, CNPY2, TAF15, GMPR2, BMP7, PTPRF, PRR5-ARHGAP8, ZNF559, PLIN2, ULBP2, GREM1, PPIC, SELENBP1, SERBP1, FYN, PRPF19, MX1, URM1, ZNF160, CA1, TFF1, TPM3, IL6ST, ANXA1, REG1A, TXNIP, STK11, MSH3, BUB1B, BUB1, BUB3, PRKAR1A, BMPR1A, RPS20, MIR17, MIR141, KLF4, SIRT1, HMGA2, TIMM8A, MIR149, H3P10, LGR5, MIR148A, MIR146A, MIR155, ALDH2, MIR125A, E2F1, CYTOR, ABO, MIR145, MIR126, MTCO2P12, ABCB1, PVT1, MTOR, DNMT3A, CD274, MIR143, SEMA4A, IL17F, MTDH, PTP4A3, NME1, MIR107, HPSE, EPHB2, SMR3B, PTPN11, MGMT, REM1, OGG1, MMP1, ERCC4, HPGDS, ERCC5, GLI1, ESR1, GSTM1, CXCR4, SPP1, TLR4, EZH2, NEAT1, TLR2, SPARC, MMP14, PCNA, ZEB2, SOX9, MACC1, NFKB1, MMP2, HMGB1, MIR106A, PGC, TRIP13, TIMP1, MDM2, FOXO1, EGF, AKT1, FOXM1, SLCO6A1, HIF1A, HGF, NOTCH1, ELAVL2, MMP9, JAG1, HDAC1, SOX2, MALAT1, GSTK1, TBC1D9, PDCD4, GSTT1, RASSF1, MIR34A, CDH17, TGFB1, YAP1, MIR375, MEG3, PTEN, MIR223, FBXW7, TFF3, IGF1R, PSG2, HSP90AA1, THBS1, NAT2, MIR214, TFF2, CXCL12, MIR25, S100A4, MIR27A, IFNG, CEACAM3, MIR335, MIR338, FOXP3, SFRP1, IGF1, CEACAM5, CDX2, MIR29A, IL10, IL11, SMAD2, MIR27B, IL17A, IL1A, MUC5AC, CEACAM7, S100A8, BRCA1, AURKA, PKM, ZEB1, VEGFC, VEGFA, MIR195, CYP2E1, CEP57, PIK3CG, PIK3CD, UCA1, COX2, PIK3CB, MIR421, VIM, KDR, SGCB, CASP3, WNT5A, BCL2, CLDN18, TERT, MIR21, ABCC1, CCK, OLFM4, PROM1, MIR204, BMI1, JAK2, MIR203A, CTNNB1, MIR200C, LILRB1, ERBB4, PARP1, FZD7, ADH1B, FGFR1, CD14, LEP, PEBP1, CD34, CYP1A1, MIR200B, FAS, MIR10B, MIR22, MIR144, MIR206, CREB1, AICDA, PLK1, MIR221, ACKR3, MIR29C, MIR222, MRC1, DCC, HNF4A, PPP1R1B, AFAP1-AS1, EPCAM, CD24, POU5F1P4, TP73, MCL1, ADAM17, CEACAM6, FGF2, TOB1, POSTN, MYCL, GKN2, MIR122, BRCA2, POU5F1, ANXA2, MIR152, HSPA5, HOXA10, IL4, COMMD3-BMI1, POU5F1P3, MECP2, GDF15, GSTM2, HLA-A, ZFAS1, MIR140, MIR19A, MBD2, MIR20A, PRKAA2, TMED7-TICAM2, MIR494, CCKBR, MUC2, TICAM2, MIR495, FOXO3, CD163, RUNX1, LDHA, MIR497, LGALS1, H3P23, STMN1, FSCN1, CIP2A, MUC16, GAS5, MIR183, MIR451A, CCL2, HSPA4, MIR23B, MIR93, SOCS3, MIR31, ZNRD2, PSMD9, EGR1, LTA, SLC12A9, TMED7, IFI27, LRPPRC, LOX, GSK3B, DAPK1, ABCG2, FGFR4, SP1, DCTN6, AR, MIR130A, CXCL1, TNFAIP8L2, SETD2, ANGPTL2, EIF5A2, IGF2, NFE2L2, SMAD7, IL22, MSH6, NOD2, KDM1A, GATA6, NM, MAP1LC3B, SOCS1, NCL, ITGB1, NRP1, TET1, HSPB3, BECN1, MDK, SATB1, MMP11, CDK6, MIR34B, TIMP2, NDRG1, NOD1, ZEB1-AS1, CCNB1, MIR217, MIR212, CTLA4, TGFBR2, MIR196A2, ARHGDIB, MIR508, PAK4, MIR185, MIR182, CDKN2B-AS1, MIR675, BAX, EIF4E, EPHA2, RAF1, MIR137, BSG, MIR30C2, MIR106B, MIR340, MIR370, VAV3, CDKN2B, MIR17HG, MIR302B, MIR361, CD82, SPHK1, CXCR1, HPGD, MIR192, MIR196B, HOXA13, SQSTM1, DLL4, IQGAP1, CDX1, XPO1, CCR7, MIR181A2, PRDX2, SKP2, CDK2, KLF5, TEAD4, MAP2K7, PRMT5, GDE1, IL2, S100B, CXCR2, CXCR6, DDIT3, PRKDC, MIR18A, PCDH10, CASR, MIR320A, MIR378A, CRKL, CRK, CLDN4, CD40, MIR423, CCN1, PRPF31, ICAM1, CHPT1, CD68, COL1A1, MIR30C1, METTL3, MIR32, MIR425, SALL4, KLF2, MIR135B, MIR148B, NEDD9, DANCR, CCN2, MIR205, MIR210, WNT1, CRP, MIR133B, RACK1, INHBA, RPSA, TP73-AS1, MIR23A, CCND2, CLIC1, PROX1, KLRC4-KLRK1, FLT1, DLEC1, MDM4, MIF, PDK1, IL23R, KLF8, PTPN1, ANXA7, FOXK1, NR1H2, MICA, RNF180, NOX4, FGF9, ARHGAP24, RELA, MAD2L1, DHDDS, UBE2C, S100A1, LMX1A, CT83, FRZB, MGR1, GHET1, GABPA, KLRK1, IL33, HOTTIP, FOXQ1, MIRLET7B, HAVCR2, SLC2A1, AGT, SULF1, NOS2, C17orf97, TLR5, RASAL1, MIR381, CCL5, MIR383, RAC1, MXI1, TES, CD36, ALDH1A1, AKT2, ADRA1A, MAP3K1, TPI1, H3P9, IL18, CDC42, MMP13, TSPAN8, CCAT2, ADH1C, PCAT1, NXT1, SPRY4-IT1, TRAF2, MCC, ADRA2B, LAPTM4B, DKK3, SNHG16, CD80, LAMC2, PTK2, MAP2K1, MIR506, ZFHX3, TGFB2, NET1, ATP4A, ATP4B, MT1JP, S100A6, VDR, TFAP4, BGN, UHRF1, MIR630, TERF2, CDK5, BRS3, KLK6, KRT19, L1CAM, LGMN, COX1, MIR532, TLR9, MIR708, MIR503, SMOX, SCO2, MIR363, CCNE1, MIR551B, THY1, HDAC6, MIR146B, THBS4, THBS2, PTCH1, FASLG, CHAF1A, LATS1, UGT1A1, CASC11, WEE1, MIR499A, MIR501, TACSTD2, TGFBR1, MSI1, ANGPT2, FSTL1, IL16, KLF12, USP22, MIRLET7C, COL18A1, ROBO1, SSTR4, DICER1, EDNRA, SIRT4, TKTL1, HMGB3, E2F3, WNK1, NR4A2, FOXA1, MIR132, SERPINB5, MIR139, NQO1, BRD4, GSPT1, FGF4, SUZ12, CXCR3, MYH9, STC2, VTCN1, YBX1, SUB1, GADD45G, ERCC6, KDM4B, BCL6B, FAP, MSC, FASN, MTA2, EPAS1, SST, SOX2-OT, ADIPOQ, SNHG5, IRX1, GPX3, SRPK1, GPR42, ZFX, COX5A, HFE, ROCK1, KHDRBS1, CPOX, FLT4, ROS1, TBPL1, SOAT1, FEZF1-AS1, COX8A, PLG, PDCD5, MIR29B1, MRPL28, SLC7A5, MIR224, FN1, MIR34C, ERCC8, SELE, CIB1, TNFRSF6B, CDKN3, GATA4, GAPDH, SOX4, TINCR, MAPK14, PAX3, LPAR2, DAB2IP, PITX1, HOXD10, HP, MIR198, MIR219A1, SEMA6A, FSD1L, HES1, PLA2G2A, MIR200A, HSPB2, VCAN, MIR215, MRE11, CLDN11, RAD51, ODC1, PIWIL1, PAEP, RBX1, PRKN, RNASE3, HDAC4, NID2, RDX, SOCS6, FERMT2, PTPN14, AKT3, PBX3, TDGF1P6, SIRT2, OPCML, PAK1, RAB1A, RPL23, MPO, PAX5, WASF2, STARD3, NBN, PIN1, AKR1A1, DAPK2, NUP62, NEK2, MTRR, SNHG1, MUC4, KDM4A, CADM1, AHSA1, PIM1, SLC34A2, POLDIP2, PMS2, CXCL13, PTENP1, RNF19A, LRIG1, PPARD, SPON2, POT1, MTR, CBX7, ABCB6, MST1R, RBP2, PSMD10, HDAC9, PDGFRB, AGO2, ACTR2, RBM4, KIF20A, MSMB, MST1, MSX2, ATG5, PFKFB3, CACYBP, TNK2, HSPH1, HTRA1, MTA1, GRAP2, SIRT3, PGK1, NTN1, GRB7, EIF4A3, SNHG12, YWHAZ, ESR2, ZKSCAN1, EREG, SRI, EPHB4, EPHB3, DLX6-AS1, TRIM59, SRF, CTTN, ZIC1, FEZF1, MIR454, BAK1, MIR187, STAT1, S1PR1, MIR128-2, DUSP4, STAT4, MIR129-2, YES1, MIR134, MIR136, MIR142, MIR150, XRCC5, MIR181C, ETS1, SNHG8, F2RL1, PCGF2, NKD2, MIR543, LMLN, XRCC6, SNCG, TP53INP1, NR5A2, FOSL1, FPR1, FOS, CTHRC1, ANIB1, CMTM3, TFPI2, AIMP2, MIR940, VEGFD, CBLL2, FGF7, SOX11, FGA, NLRP6, ATOH1, ATP12A, HOXA11-AS, MIR744, CASC2, MIR186, MIR188, MIR874, MIR20B, CDH13, MIR613, MIR372, CDC20, XIST, TERF1, CD151, MIR584, CD47, MIR4435-2HG, BST2, MIR449A, MIR362, WNT2, CYP19A1, TCF4, MIR490, MIR193B, MIR33B, CASP9, MIR181D, MIR505, CALR, MIR483, MIR455, EZR, RASSF10, CA9, TAC1, SYT1, MIR337, MIR331, TFAP2A, MIR193A, MIR196A1, CYP1A2, MIR197, MIR92B, MIR19B1, STC1, MIR216A, CRMP1, MAP3K8, MIR647, COL12A1, MIR638, SULT1E1, MIR29B2, COL6A3, MIR301A, MIR30A, MIR30B, COL1A2, STIM1, AURKC, CHRNA4, CHEK1, SULT2A1, XPC, SNHG20, VPS51, FNDC1, ITGB3, CASC9, TUG1, ADAM10, ISL1, IRF6, ANO1, ADAR, PDX1, INSR, ZNF654, INPPL1, TLR1, ILK, TRIM24, ENAH, ADM, HSP90B1, PBK, IKBKB, RPRM, TMPRSS4, ADAM9, TNFSF10, SRSF1, TNFSF13, ID1, TGFBI, PINX1, ITGB4, HTN3, LINC01410, GPRC5A, GIT1, ABL1, MBL2, MAL, RMC1, RPS27, SEMA5A, DELEC1, RRM2, TOP2A, GAL, S100A2, ANGPTL4, ING4, DCTN4, LGALS9, GOLM1, DACT1, ISYNA1, GACAT3, S100A11, RAB14, IL23A, KIF2A, TRPM7, ASPN, SMURF1, TRPC6, HTC2, FTO, HSP90AB1, HDAC2, RECK, MUL1, MIR1236, LIN28A, GTF2H1, ANGPT1, WLS, SLC16A1, FBXO11, CDK5RAP3, MIR1284, APRT, AQP3, GPER1, GPI, SNAI2, NCOA3, MLRL, SMARCA4, GLI2, GLDC, SESN2, TMPRSS13, NRG1, CUL4B, HNRNPA1, NDRG2, TP63, ANKRD36B, HOXB7, IL21, PRMT1, BHLHE40, GOLPH3, FRTS1, PIK3R3, GAPLINC, AGER, HMGB2, HSF1, HHIP, GORASP1, HLA-E, CEMIP, HLA-DQB1, GEMIN2, HLA-DQA1, LINC00673, TIAM1, HOXC10, UVRAG, KMT2B, TTK, UCHL1, STARD8, TXN, UTRN, TTR, USF1, TP53BP2, DIRAS3, SLC9A3R2, SEMA3E, ATG12, SPOP, ULK1, NR0B2, CUL4A, DCLK1, OGT, PPM1D, DENR, DYNLL1, SCAF11, FADD, PCLAF, TNFRSF10B, CCN6, CCN5, CCN4, HDAC3, NR1I2, FUBP1, MTMR3, F2RL3, DOK2, FZD1, AXIN1, VIP, ADAMTS1, VGLL4, WNT6, WNT7A, WNT10B, XDH, KLK4, XPA, CLOCK, XRCC2, XRCC4, YY1, PDLIM7, ZFP36, MZF1, CLDN1, PRDM2, BTG2, FZD5, KMT2D, YEATS4, CDR3, KDM5D, NAT1, PCDHB9, BMS1, MIRLET7E, LINC01194, CASC15, LIN28B, SNHG17, NANOGP8, VSIG1, TFAP2E, SNHG15, HOXA-AS2, ZFP82, LYPD5, HNF1A-AS1, H19, CTAG1A, MPEG1, MIRLET7D, MIRLET7I, TIGIT, MIR100, MIR324, MIR302C, MIAT, MIR99B, MIR95, MIR33A, MIR296, MIR28, MIR211, MIR199A2, MIR199A1, MIR154, MIR130B, MIR129-1, MIR127, NAIF1, MLKL, GSDMD, MFSD2A, HOPX, LOXL4, CCDC8, CDCA3, TCF7L1, NECTIN4, SETD7, ZFP91, CMIP, SRCIN1, SLC19A3, CD276, WNT10A, CXXC4, MUS81, GLIS2, SNHG7, RASSF6, SCIN, MAGEB6, BTLA, PDIK1L, MDP1, GSC, MUC17, CLDN23, LINC00628, ANTXR2, RAB3IP, FBXO32, SLC52A3, SAT2, ZFAND4, WNT3A, MIR326, MIR328, MIR367, MIR761, MIR1179, MIR1271, MIR1297, MIR1207, MIR1258, MIR1256, MIR1296, MIR1915, LINC00941, FAM83H-AS1, EGOT, MIR365B, MIR760, MIR885, MIR938, ZEB2-AS1, CBR3-AS1, MIR376C, LINC01234, H3P47, LOC110283621, CDR1-AS, TP53COR1, PRNCR1, BLACAT1, LSINCT5, PANDAR, LINC01939, TRERNA1, MIR5590, NNT-AS1, MIR4795, MIR4455, LINC00665, MIR873, MIR876, GGTLC4P, NBAT1, MIR486-1, MIR519D, MIR524, MIR202, MIR491, MIR409, MIR18B, MIR448, MIR429, MIR424, MIR379, MIR377, CISD2, MIR374A, MIR371A, SNHG6, PGA3, CRNDE, MIR598, HULC, GGT2, GGTLC3, LINC00460, MIR663A, MIR646, MIR593, MNX1-AS1, MIR585, MIR574, MIR542, MIR545, GGTLC5P, NORAD, GRHL2, FBXO31, MELK, TRIM29, SMUG1, NNT, SIRT5, SASH1, WWC1, EPB41L3, KDM6B, SPART, KDM2A, DKK1, RUFY3, ECD, RASSF8, GALNT5, ANXA10, CORO1C, TMEFF2, WDR5, TFIP11, MCTS1, DLL1, MCAT, RABGEF1, IL17B, PELP1, NOX1, EHF, FBXL5, RAI14, WWTR1, OLFML2B, LETMD1, BRMS1, TNFAIP8, CORO1A, ESM1, CLIP4, PDLIM5, NDC80, PIAS3, TUBB3, CLEC4M, STUB1, ABCC4, SPRY2, TRIM28, DNM1L, HDAC5, KCNE2, PTBP3, REC8, USP3, MFN2, MERTK, PDPN, TRIM31, IGF2BP3, CNMD, WWP1, STIP1, ERP29, BTG3, RALBP1, MMP24, TSPAN9, PPP1R13L, WASF3, IQGAP2, KDM5B, USP39, CD226, SPINT2, RACGAP1, DNMT3L, ERO1A, RPRD1B, CCAR2, SYT13, SCYL1, S100A14, ERGIC1, VANGL2, PAK5, CD248, TIGAR, CIAPIN1, AKR1B10, ADAMTS9, TM9SF3, SULF2, GSDMB, HAMP, PRDM16, TBX21, PCGEM1, TBL1XR1, PAGR1, FA2H, MMP28, GGCT, MARCKSL1, NDRG4, CENPH, SMYD3, COP1, SOX17, NOC3L, POPDC3, VSIR, PBLD, IL26, PRR11, URGCP, ITLN1, SIRT7, DTL, FZR1, TNFRSF12A, LEF1, EGFL7, LINC00328, TRIM17, ADIPOR1, NDUFA13, APIP, TRAT1, IL21R, STOML2, ADGRE2, SIRT6, LARP7, MED15, AGGF1, VEZT, SAGE1, TRPV6, ZNF331, PHF10, IMP3, ATG16L1, RAB23, GID8, TENT5C, SYTL2, UGT1A7, DDIT4, PRR13, TNFRSF1A, CCNB2, PCDH7, CTAG1B, CSF2, CRYZ, CRYAB, CREBBP, CRAT, PLXNA1, PODXL, POLB, POMC, PON1, COL4A1, CCR6, CCR4, CMA1, POU5F1B, CLU, CKS2, PPBP, PPP1R1A, PRKCI, CETN1, CST4, CTBP1, SIAH1, CTSK, DPYSL3, DPT, DOK1, REG3A, TRDMT1, PCBP1, DYNC1I1, GSDME, DECR1, DDX6, DDX5, PCDH8, DCN, BRINP1, DAP, PDCD1, PDGFRA, CYP2C19, CYLD, CYBB, CUX1, CDO1, CDKN1C, PSD, PSEN1, RET, RNASE1, RNF2, BMX, RPL6, BDKRB2, BCL9, RPS15A, BCL6, RTKN, S100A10, BAG1, SAT1, BAAT, AXL, CCL22, CXCL5, ASCL2, SFRP2, ARHGAP5, SHBG, BTG1, KDM5A, RB1, CCKAR, CDK7, CDH11, PSMB8, CDK1, ADGRE5, CD74, PTGS1, CCNA2, PTPN6, CBR1, C5AR1, SERPINH1, RUNX2, CASP6, RAP1B, RAP1GAP, CALD1, CALCR, DDR1, CA11, ATN1, DSC2, PRDX1, FLNC, IRF3, ITGA2, ITGAV, GJA1, GGT1, ANOS1, GAS6, GAS1, KCNH2, GALNS, KIT, KIFC1, KRT17, KRT18, FUT1, FUS, FRA7G, LCN2, LIF, FOLR1, LIMK1, IRF2, GLO1, IRAK1, HINT1, HOXC6, FOXA2, HMMR, HMGCR, HLA-G, HLA-F, HLA-DOA, HLA-B, HK2, HIC1, GLS, HDGF, MRPL58, IDUA, IGFBP1, IL4R, GPX1, GNAS, ING2, CXCL10, FLOT2, LOXL2, P4HB, LUM, MYO6, PPP1R12A, FBLN1, PTK2B, NELL1, NEO1, NEU1, F3, NEUROD1, NGF, EPHB1, EPHA1, NOVA1, NPC1, NRAS, DDR2, NTSR1, OMP, E2F5, DUSP6, DUSP5, EFEMP1, MYD88, MYCN, FOXF1, LYN, TM4SF1, FLI1, MXD1, FOXS1, FOXJ1, MAPT, MAP3K5, MFAP1, MITF, FKTN, MKI67, MME, MMP3, MMP12, MOS, FHL1, MTAP, NUDT1, TRIM37, SHMT2, HOXA5, XIAP, SLPI, TM7SF2, ST6GAL1, TCF3, STAT5B, STAT5A, TGM2, ASIC1, SPINT1, ADCY3, SMARCA1, SPOCK1, ADH5, TCF21, SSTR3, TEK, HLTF, TDG, SRC, ADH1A, TEAD1, SLC5A5, TAZ, SLC1A5, AMD1, SIX1, SRY, ALCAM, SLC7A1, ADH7, ACTB, ACACA, APOE, SLC9A1, ANXA4, SULT1A1, SLC6A8, TCF7L2, AGTR1, ALOX15, SOD1, AP2A1, TGFB3, SLC22A3, ANXA3, SIAH2, HSPA13, H4-16, MSI2, LINC01254, PIP5KL1, FOXI1, VPS37A, ANKRD9, SOCS4, FLNB, UBXN2B, TMEM52B, PAQR4, TRPM2-AS, NXPE2, NEDD1, NALT1, FOXC2, IQGAP3, SGPP2, CD200R1, LINC01524, RBM45, CMPK2, SCLT1, VSTM2L, LINC01303, KRT40, PDCL2, TSACC, GJB4, TNFAIP8L1, IL31RA, FLNA, OSR1, TMEM45B, LOXL1-AS1, CPXM2, ACTN4, CMTM7, MIR6807, MIR6884, PRRT2, CAVIN3, EGLN3, EGLN2, FUT2, FUT3, FUT4, CGB5, MRFAP1, FUT5, MEF2C-AS1, LEMD1, CSAG2, PGAP3, DNER, DTD1, SPECC1, SCGB3A1, FUT6, GGTLC1, CHRDL1, WDR20, ISX, MIR6856, CDCA5, TMEM106A, FPR2, GSTO2, MMP21, PIK3AP1, ETS1-AS1, TWIST2, RASSF1-AS1, MIR6506, DCD, FLT3, DIRC1, MIR6852, BATF2, CCDC151, FOLR2, ATG4A, FOSB, OSBPL8, ESCO1, TUBGCP5, LMTK3, CARD16, TIRAP, NLRP3, B3GALT5-AS1, LINC00313, S100A16, ZNF664, CTCFL, CTXND1, FAU, DOK6, SKA1, VWCE, FBLN2, CCNY, MED19, SFTA1P, HIPK1, APOBEC3A_B, FCGR2A, PRSS55, CCDC125, BRI3BP, LINC01436, RAB12, CENPX, FBXO45, FDXR, FOXP4-AS1, APOBEC3A, FEB2, ARID2, PRXL2C, FEN1, GPC4, PTCSC3, MARCHF8, KDM1B, LINC-ROR, SBF2-AS1, IFNL2, ADGRF1, IS1, HSPA12A, LINC00565, FABP1, RB1-DT, EPGN, MACC1-AS1, FABP5, MSRB3, CERS6, EBF3, RICTOR, HCG27, NEIL2, IL27, ACSL4, FALEC, MAPK15, FAM83B, HOXC-AS3, JAZF1, FAT1, DNAJB1P1, ABHD11-AS1, ADAMTS18, PTENP1-AS, LDC1P, MFSD4A, LINC00662, LYPD4, ZNF418, ADARB1, ARHGAP27P1, TMED6, LINC00052, NRG4, PWAR1, ADAM8, PTGR2, FOXF2, LINC00477, GUSBP11, LAYN, PIWIL4, CACUL1, ZNF280B, ACYP2, ISM1, LINC00261, LINC01793, ROMO1, FKBP5, FKBP4, ADAMTS15, GPBAR1, BHLHA15, DDX53, FGB, SLFN5, MDGA2, SLC5A8, DEUP1, FGF13, FGFR3, LINGO2, LRATD2, ESCO2, PEBP4, ADH4, FGL1, AMOT, CREBRF, FH, PAQR3, IGSF11, SGO1, ADD1, GPR155, NPTN-IT1, LBX2-AS1, RNF185, HS6ST2, FZD2, GUSB, VASH2, SHCBP1, GSTM3, GSTZ1, ELMO3, GTF2A1, PALB2, GTF2H4, SUV39H2, GUCY2C, IPO4, ZDHHC14, NEIL1, EHMT1, GZMA, HAS1, HMBOX1, ACSS3, TCTN1, HCK, CORO7, SLC52A2, HCRT, BIRC7, LOC107987479, HMGN5, LINC02163, CAMKMT, HDC, GRINA, ADAM33, ULBP1, LINC01852, RAPGEF1, GRN, GRIK2, CPEB4, GRIK3, FLAD1, GRIN2B, RUFY1, RUNX1-IT1, NR3C1, ZMYM1, FRAS1, LINC02465, ZNF703, TRIM46, TUBA4B, DGLUCY, GRP, PDIA3, DENND2D, GSTA1, CCDC134, GSTA3, HCRTR1, CENPO, SPOCD1, HNRNPA2B1, DCLRE1C, RGS18, ASIC2, GREM2, MMP25, H3P42, HMGA1, RHBDF1, ARHGEF28, ROBO3, STRA6, H3P11, ABL2, CPEB1, IRF2BPL, NCAPG, HNRNPC, HNRNPD, HNRNPK, TLX1, HOXA@, HOXA1, TP53AIP1, CLSPN, PKNOX2, FKBP10, CSMD1, ANAPC1, DHRS11, ZBTB10, DINOL, KRT7-AS, HELLS, MBOAT7, RNF26, CARD14, DCTPP1, ACHE, NUP37, LOC111589215, LRFN4, DDRGK1, STK33, TMPRSS3, HK1, LNCRNA-ATB, DUS4L-BCAP29, CDK15, HLA-C, MRPL41, HLA-DQA2, MICAL1, FNDC3B, HLA-DRB1, CCDC136, NUCKS1, COASY, PDCD1LG2, GPR37, GDF2, GATA2, ACP1, ORAI1, GATA3, RIOX2, ARHGAP5-AS1, FOXD2-AS1, GBAP1, KAT2A, KDM2B, GDF1, CCDC62, GEM, ATAD1, AFAP1L2, GFPT1, MAP1LC3A, GACAT1, GHRH, ZMAT1, DOT1L, GHSR, COG8, BRMS1L, GINS4, WDR83, SPPL2A, ARHGEF39, GPR35, HAGLROS, LINC00473, AOC4P, TMEM41A, MED30, LOC102724197, DCAF15, GAB1, SYT8, KLHL6, GAGE7, GALE, TSLP, LBX2, SLC35B4, DIXDC1, TSPYL5, SLC22A16, GALNT1, DNAJC14, GALNT2, ACP5, LINC01419, TNS4, MAEL, MASTL, FIBCD1, POLDIP3, TCHP, IRAIN, SLC38A1, NETO2, TLR10, NUAK2, VCAN-AS1, MDC1-AS1, GNAQ, CAB39L, FAM83D, ACLY, GNAT1, PDRG1, TXNDC5, SGPP1, NLRC5, HM13, ILKAP, EGFL8, ZNRD1ASP, GNB3, KDM7A, TAS1R1, GNL1, GOLGA2, SFN, ITIH5, PRLHR, VANGL1, KRTAP1-1, GLUL, TCONS_00068220, RNASEH2C, GJA4, ZNRF3, USP44, ACO2, HORMAD1, GJA8, GJB1, BRIP1, GPC3, GLB1, KLF16, ANGPTL6, ITCH, TLCD3B, CALN1, LNCOG, TRAPPC9, GCLC, FAM107B, BCL2L12, SOX7, THRA1/BTR, MYOSLID, VPS13B-DT, F2RL2, ADH6, F2, MIR487A, MIR1266, GAGE12G, SMIM10L2B, CACNA2D1, CAD, PURPL, FLVCR1-DT, CERNA2, MIR664A, ANPEP, SLC7A11-AS1, CALM1, CALM2, ANXA11, MIR484, CALM3, SNORA21, CANX, CAPG, CAPN1, MIR1281, MIR1304, MIR504, CAPN2, MIR502, CAPZA1, C4BPA, GAS6-AS1, SCFV, C3, MIR1269A, MIR1294, MIR577, MIR575, BOK, MIR573, MIR570, MIR567, MIR564, MIR558, FOXL2, ZFP36L2, BTC, MIR411, KLF9, BTF3, MIR544A, MIR539, BTK, FAM72B, C1QBP, MIR1306, LGALS7B, PRB2, CXADRP1, MIR500A, CAST, CASP1, CD8A, MIR31HG, CD9, CD19, DUXAP10, DUXAP9, DUXAP8, CD28, CD33, CD40LG, MIR422A, MIR384, CD59, MIR382, CD63, MIR711, CD81, ALPP, MIR376A1, MIR449C, LRBA, CDC6, SUMO1P3, CDC27, CDH4, MIR373, CD8B, MIR718, ANG, CD247, MIR518C, MIR498, CASP7, CAT, MIR1290, CBFB, MIR1303, CBS, MIR511, NCRUPAR, KRIT1, MIR488, MIR485, MIR376B, ALPG, MIR410, SLC25A5-AS1, MIR452, CCNG1, MIR433, CCNG2, CCNH, CCT, CD1D, H4C15, MIR582, BMP8B, LINC02532, MIR877, MIR509-3, ARSF, MIR1265, ASNS, ASS1, ATF4, MIR935, MIR922, MIR301B, MIR374B, ATP6V1A, MIR665, ATP7A, MIR588, MIR1286, ATRX, VTRNA2-1, MIR300, AVP, MIR1275, SNORD105B, APOC1, AZGP1, B2M, GAGE12F, PWRN1, MIR937, MIR944, STS, MIR190B, ADPGK-AS1, APP, TONSL-AS1, H3P36, GACAT2, DEFB4B, AQP4, MANCR, MIR1225, MIR1224, TRIM23, GAGE12D, FOXO6, INSYN2B, RAB6C-AS1, AGAP2-AS1, MIPEPP2, MSTO2P, VPS9D1-AS1, ARF1, ARF6, RHOB, MIR939, MIR933, ARR3, HPP1, MIR802, MIR1182, CEACAM1, MIR633, MIR632, CXCR5, MIR628, MIR625, MIR623, MIR622, MIR618, MIR616, APAF1, MIR615, BMP1, MIR608, MIR605, MIR604, MIR603, MIR601, MIR600, MIR599, BMP3, MIR596, BMP4, MIR592, MIR590, MIR589, MIR637, MIR645, MIR758, BCYRN1, TDRG1, MIR1246, MIR1247, FAM72A, GAGE12E, GAGE12B, GAGE12C, CCR2, STXBP5-AS1, ADGRB1, OIP5-AS1, NKX3-2, BCAT1, LINC01433, BCHE, BCL2A1, LINC00165, MIR1298, APBA2, MIR660, MIR658, MIR654, MIR1229, MIR652, MIR650, CDH5, MIR369, P4HA3, EFNA1, DUSP9, E2F2, MIR124-1, ADORA2A, ECE1, MIR10A, ECT2, LPAR1, EDN1, EDNRB, EEF2, MIRLET7G, EFNA2, DDC, EFNB1, ADORA1, EFNB2, MIRLET7A2, MIRLET7A1, MEGF8, LDLRAD2, HPPD, EGR2, C3orf85, HAGLR, LINC00668, DNM3OS, DUSP1, MIR2392, DTX1, MIR16-1, MIR15B, MIR15A, RBM14-RBM4, DHX15, DEFB4A, GRK2, DHPS, MIR147A, MIIP, DLD, ADRA1B, MIR4668, MIR4728, DOCK1, ADRA1D, MIR4513, DPP4, MIR4665, DRD2, MIR3064, DSG2, MIR4429, DSP, SLC26A2, TOB1-AS1, EIF4A1, FENDRR, RSPO2, MAP3K20-AS1, EPHA4, BRINP3, MT1DP, EPHA8, TUSC1, MIR5003, EPHX1, ERCC3, ESRRG, CCDC66, TUSC7, TMEM238L, LINC00319, ETS2, WDR62, ETV4, CXCL17, GSDMA, NEK8, PICART1, LINC00324, LINC00346, EYA1, HECTD4, ARSI, EPHA3, BCAR4, NCCRP1, MIR100HG, SMIM10L2A, CSAG3, EIF4EBP1, ELAVL3, VGLL3, ELF3, LINC01138, TMEM220, ELK1, KMT5A, ELK4, MARK2, AQP12A, LINC01116, ASPG, NCR3LG1, EMP1, IRF2BP2, EMP3, ARPIN, PWAR4, EMX2, IRGM, HSD17B13, LINC01606, EGFR-AS1, MIR4317, ALOX12, MIR4284, MIR4268, MIR99A, MIR96, CLK2, MIR4308, CLTB, MIR92A2, MIR7-3, MIR7-2, MIR7-1, MIR4269, ABCC2, DDB2, CNC2, PLK3, CNN2, CNN3, CNTN1, MIR3664, COL4A2, MIR302A, AKR1B1, COL5A1, COL5A2, COL10A1, BLID, PIM3, PRDM16-DT, PIWIL3, MIR3174, CDK9, MIR4270, MIR345, MIR342, MIR3129, MIR339, CEBPB, CENPF, MIR4295, CFTR, MIR330, CGA, MIR3189, CHD1, CHGA, MIR302D, CHI3L1, CHRM2, CHRM3, CHRNA3, CHRNA5, KRT19P3, CHRNB2, CISH, COL11A1, LINC01133, MAGI2-AS3, CTBP2, CTNND1, CTSD, CTSE, LINC00629, MIR19B2, CTSZ, GIHCG, CX3CR1, CXADR, TTN-AS1, AHSG, CYP2B6, CYP2D6, CYP3A4, DAB2, MIR191, DACH1, CD55, ADAMTS9-AS2, LINC00707, DAPK3, MIR184, DAXX, AGA, AEBP1, CTNNA1, PCAT6, MIR299, OCLN, COL11A2, COMT, LUCAT1, COPA, CLDN7, CPT1A, MIR26B, HMGA1P4, MIR24-2, LINC00958, HOTAIRM1, LINC01006, CSE1L, CSF1, CSF1R, MIR219A2, CSF3, CSF3R, CSK, CSNK2A1, CSRP2, AIF1, CST6, CSTB, CTAA1, TNFAIP2, CD177, TGIF2, MDC1, TNFSF15, SLC23A2, PTPN3, PTPN4, KIF14, ARNT2, NUAK1, TLK1, PTPN9, PTPRC, TRIM14, KEAP1, PTPRCAP, PTPRH, PTX3, DLGAP5, PIEZO1, PVR, RASSF2, NECTIN1, TOX, PXN, RAB13, RAB27A, KNTC1, RAD51B, RANGAP1, RAP1A, RAPSN, NR1I3, NR1H4, PTN, DNAJB6, PSMC3, ARL4C, PSMD1, ARPC2, TSPAN1, PSMD2, ACTR3, ARPC1B, PTPRU, NR1H3, PSMD4, PSME2, UBA2, RANBP9, PTK7, PSPH, TROAP, FRAT1, BCL2L11, BCL2L10, PDCD6, TAS2R38, PTGDS, ABI1, PTGER3, PTGER4, PTK6, HNRNPDL, IPO13, CTR9, NAMPT, MICAL2, SLIT2, OPN1LW, REN, TAOK2, UPF1, REV3L, RFC1, RFC3, COPB2, RGS3, RMRP, AIMP1, PTTG1, BRD2, RNF6, RNH1, HACD1, SLC16A7, DEDD, DDX21, ROBO2, RASSF9, ARHGEF2, OSMR, IL1RL1, RORC, RPA3, EBAG9, PCSK7, ITGBL1, RBM3, RBBP8, BAG4, IKBKE, RGS6, RARA, CYTIP, APOBEC3B, RARRES2, NR1D1, MACROH2A1, MRPL33, CXCL14, NRG2, TP53I3, BAG3, PLAAT4, RECQL4, RASA1, GAL3ST1, RASGRF1, KIF23, MAPK8IP1, ROCK2, RASAL2, MAP4K4, ITM2B, RBBP4, HAND1, FADS2, RBBP6, BCAP31, PSMA7, RPE65, TRIM3, PDYN, PECAM1, PENK, PFKFB4, PFN1, GJB6, CDK14, PLK2, PGR, GIPC1, PLK4, SLC25A3, DLL3, TNFSF13B, PHF2, SERPINB6, SERPINE2, CELF2, CELF1, SERPINI1, KHDRBS3, PIK3R1, CAMKK2, IGF2BP2, PKD1, PLAT, PLCD1, PLD1, TRIM16, PDPK1, HCST, PDK3, KIF2C, DNAJB4, PAWR, PCCA, WWP2, ADRM1, UPK1A, PIM2, RAB31, RAB35, ATF7, KLK11, IL24, LILRB4, RAB32, PPARGC1A, COPS6, CKAP4, RAB40B, PCDH9, SERPINA5, LMAN2, PCSK2, CDK16, PDCD2, EHMT2, MAGED2, PDE4D, SUGT1, SPAG5, PLOD2, G3BP1, PAIP1, PPAT, PPIB, PPP1CA, PPP2CA, PPP2R5E, IRF9, CITED2, PRKACB, PRKACG, PRKCA, PRKCH, SMYD5, CRISP3, CCNO, DLEU1, MARCHF6, DNAJA2, EFS, PRKCZ, MAPK7, MAPK9, PRSS3, HNRNPR, RELN, RCAN2, TRIM13, PSME3, PSAP, PSMA1, IFITM3, RAPGEF3, MED1, ENOX2, PLS3, SMC2, IFITM2, SORBS1, PML, PMP22, PNMT, PROCR, ANP32B, UBD, POLR2A, KAT5, SEMA3C, CRTAP, PPARA, CAP1, CAP2, NXF1, HOXB13, PON2, PIBF1, POU2F1, TACC3, GPNMB, POU2F2, FAM3C, MCRS1, RBM14, EXO1, RPL10, AFAP1, WT1, SOX1, NTT, DEK, REEP5, SEMA3B, SOX5, SOX10, PAX8, SOX12, DAP3, SPG7, ZNF217, ZNF208, TRIM25, ZNF143, ZNF70, SPTAN1, CNBP, ZNF3, SSRP1, SSTR1, ST13, STAT6, STAU1, STX1A, SUV39H1, TACC1, TACR1, MAP3K7, FZD3, SEM1, SNX1, GDF5, FZD9, FZD8, FZD6, SLC11A1, SLC19A1, SLCO2A1, SLC22A1, H4C9, SLIT3, KDM5C, USP9X, TAM, SMARCA2, SMARCB1, NR4A3, AKAP1, SMARCC1, SMARCC2, SMARCE1, SMN1, SMN2, SMO, USP5, SNRPA, CSRP3, RASSF7, ADAM12, CUBN, XBP1, WRN, H4C4, WNT9A, SUMO1, UBE2N, UBB, UBA52, TH, TNFRSF4, THRA, THRB, TIA1, TSG101, TRPM2, NKX2-1, TRPC1, HSP90B2P, TRAF6, TRAF5, TRAF3, TK1, TKT, CRISP2, TPR, TLE1, SEC62, TPD52L2, TMPO, TMSB4X, TMSB4XP8, TNNI2, TNFRSF1B, TGM1, UGCG, UGT1A, TCF7, WNT2B, TAPBP, WNT8B, WNT7B, TBL1X, TBX2, WNT3, TCEA1, HNF1A, NSD2, VWF, VLDLR, VIPR1, TCF12, UGT2B15, VHL, TCN1, VCL, VCAM1, VAV2, VAV1, VASP, KDM6A, TEP1, UQCRFS1, UQCRC1, UPP1, TFRC, H4C1, H4C6, RABEP1, SRSF6, PER2, APLN, ATXN1, AKAP4, ALKBH1, SCN7A, SCN9A, SCNN1B, CCL4, CCL18, CFLAR, GGH, CCL20, FGF18, BANF1, CDKL1, IL18R1, SDC1, TNFRSF10A, SDHB, TNFRSF11A, FBP2, DLK1, SDHC, SDHD, RIPK2, TNFRSF14, SET, ADAM23, TSPAN31, SAI1, VPS52, PRC1, RPL11, RPL34, SLC16A4, RPN2, RPS6KB2, NMI, USP14, PKMYT1, RPS7, RPS12, CLDN2, CLDN6, SYT7, RPS13, MTMR2, RRAS, BAZ1B, RRM1, MAP3K14, CDKL2, NOL3, LIMD1, S100A3, S100A7, BTRC, S100A9, MBD4, SGCE, SFRP5, TNFSF14, H4C12, HRK, PPFIA3, BARX2, CBX4, YBX3, ST3GAL3, IFITM1, ELP1, STIL, LIPF, SIPA1, SLC2A4, SMARCA5, KLF11, SLC3A2, SLC4A1, SLC6A6, STK24, SNHG3, TAGLN2, SLC8A1, SPARCL1, MAD1L1, H4C14, H4C13, H4C5, H4C2, H4C8, H4C3, H4C11, LMO4, PIAS1, CDC14A, TNKS, RIPK1, GPAA1, ADAM19, CTSF, MBTPS1, ABCC3, PEA15, SRSF7, EIF4G3, EIF3H, EIF3D, EIF3B, SGK1, SGTA, TCAP, SH3BGRL, LAMTOR3, NCOA1, JRK, SHC1, USO1, SHH, KLF7, TNFSF11, STK16, MADD, PDXK, CDK10, ADAM29, PAK2, ADAMTS8, UGT1A10, PARPBP, ITGA3, C1orf56, ODAM, IMPAD1, CMTM6, CYP2W1, SLC66A1, ITGAX, ALKBH5, EIF6, ANKRD49, ITGB5, ITGB6, ITK, GIPC2, TRIT1, TET2, BTG4, TRIM44, ITPR3, MPHOSPH8, JAK1, UGT1A4, HES2, CCNJ, LZTFL1, UGT1A6, JUNB, MARCHF1, ANKRD40CL, USP47, CHDH, ILF2, ILF3, ENOSF1, IL17RB, MAML3, TRIM36, INCENP, TNFRSF19, IDO1, LGR4, IMPACT, STYK1, INS, INSIG1, FKBP14, INSL3, TMEM100, KIRREL1, RIF1, PRMT6, CEP55, SDAD1, IRF4, KIF26B, RNF31, ITGA1, EPN3, NOL8, UGT1A8, JUND, OTUB1, ING3, KNG1, AZIN1, KIF11, CYRIB, UFM1, HDAC7, KPNA2, RAB6B, KRT6A, KRT7, KRT15, VTA1, CXXC5, GTSE1, UFC1, NOP16, HSD17B7, LAG3, PRRX2, RNF138, VGLL1, SNX9, PPME1, LAMA4, PLA1A, ZMYND10, WT1-AS, LAMB3, ZBTB7A, KLK1, LSR, PPIL1, DUOX1, RBM47, KCND2, KCND3, FBXW5, KCNH1, ANLN, SSH1, TERF2IP, TREM2, NANS, MRPL39, POLE3, LINC00111, KCNMA1, MPC1, IL17D, MYOZ2, MAP3K20, STK26, INPP5K, CDK12, TMEM8B, KCNQ1, WBP11, KIR3DL1, CMPK1, CAB39, SUFU, VPS50, NLRP2, ADAMTS5, KNL1, DOCK6, IFT80, STAMBPL1, HRH2, KIAA1324, MIB1, HACE1, MTUS1, AHRR, GRAMD1B, HSD3B1, NDRG3, HSD11B2, RAB22A, HSD17B1, HSD17B2, HSPA1A, HSPA1B, ARFGEF3, HSPA2, HSPA9, DNAJB1, ZNFX1, TNC, PELI2, IDH1, CLEC3B, IDH2, PLAAT1, ZNF471, AGFG1, HPN, RAB40C, LGR6, TRPV4, HOXA9, HOXA11, ABRACL, SINHCAF, DLGAP3, HOXB5, PRUNE1, HOXB9, CREBZF, CXCL16, HOXC9, TRIB3, HPD, GBA3, HOXD3, METTL14, PRX, SFMBT2, DENND1A, CHD8, EPB41L5, ZBTB4, HOXD9, USP28, LRRN1, ZBTB2, PDSS2, PCBP4, DDX27, TWSG1, MYDGF, KLHL7, DMAP1, ACSS2, LMO3, IL7, IL9, HDAC8, WWC3, SELENOS, DCAF6, PAG1, KDM3A, ST6GALNAC1, DCP1A, IL12A, CACNA2D3, IL12RB1, NGLY1, CCAR1, CNDP2, IL12RB2, IL13, IL15, VPS35, TENM3, IARS2, LIMS2, FOXK2, PCDHGA9, PCDHA@, IHH, IFRD1, IFIT2, IFNA1, IFNA13, IFNAR1, IFNB1, IFNGR2, CEACAM19, SMYD2, PMEPA1, LXN, IFNW1, UBQLN4, TCIM, TCEAL7, GSDMC, SLC2A4RG, RETN, AKIP1, MUC13, LINC00470, IGF2R, DNAJC12, IGFBP5, IGFBP6, PARD3, RBPJ, CTNNBL1, SUSD2, LASP1, LBP, RSRC1, GSE1, KAT6B, NF1, NFIA, PES1, SEC11A, NFIB, ETHE1, CBX5, NFIC, OTP, NFIX, NFKB2, NFKBIA, NFKBIB, FRAT2, UBR4, NID1, NEDD4L, NME2, SATB2, ICOSLG, UBR2, NQO2, ADGRL2, NODAL, VPS13A, RHOBTB2, NONO, RRS1, PRAME, SEC14L2, GTPBP4, SPDEF, SYF2, MYH11, CLIC4, SOSTDC1, MYLK, MYO5B, TRIM58, MYOD1, FBXL2, NAB1, TAFA5, NAGLU, BAMBI, RAB3GAP2, ARL2BP, NASP, IL17RA, GABARAPL1, GSPT2, NCAM1, PRKD3, NCF2, NDUFB6, NEK3, FAM215A, DDX58, NEU2, DDAH1, CCN3, FBXL7, SLC25A37, KANK1, IKZF3, COG2, NTS, OIP5, NUCB2, NUP98, ATXN2L, PTGDR2, ZHX1, OAZ2, GALNT6, FZD10, TNFRSF11B, OPRD1, OSM, OTX1, P2RX7, MAP4K1, WDHD1, PSIP1, P2RY2, P2RY6, HHLA2, KAT7, FAF1, BTN3A2, EMILIN1, KRR1, PRSS23, MRAS, PHLDA1, DLGAP4, NTRK1, NPR1, PHF8, PLXND1, NPTX1, SARM1, KIF1B, ARHGAP26, ZC3H13, PEG10, ZNF609, MYT1L, USP33, NTHL1, TPX2, RAB11FIP2, TRIM32, NTRK2, NTRK3, RAB18, MAPRE1, MMRN1, ROR1, ROR2, ZHX2, MORC2, CILK1, VASH1, PPM1E, KANK2, NUDT13, SH2B1, KRT23, LY6E, LYZ, KLK12, CAPRIN1, PIK3R4, MARCKS, CXXC1, VSX1, SMAD1, MAGEA3, NOP53, RHOD, DONSON, UBQLN1, IL19, MAGEA4, MAGEA6, MAGEA12, ICOS, YPEL1, CARD10, TMOD4, MAT2A, MBS1, MCAM, PRSS50, TBK1, MEF2D, LINC00339, DHH, LTBP2, CYP4F3, SERPINA10, ARMCX1, KCNK9, TIMMDC1, THEG, LEPR, CLEC1B, MZB1, LGALS2, NUSAP1, LGALS3BP, PLEKHO1, LGALS7, LIFR, LIG3, BHD, SDF4, A4GNT, LLGL2, LMO1, SH3GLB1, LNPEP, LOXL1, LPA, LRP6, LRP5, DESI2, LRPAP1, DERL2, UBE2T, ATAD2, KLF15, FBXO24, GAGE12I, CKAP2, ND3, IL36RN, LATS2, TIMM9, SEZ6L2, GNL3, HSPB8, MTX1, MYCBP, TINF2, FBXO8, PTTG3P, DNAJC2, MUC3A, FBXO2, DGCR5, PITPNC1, SENP3, MUSK, MMUT, MYB, GPSM1, KLK13, MYBL2, SETBP1, CHD5, HAVCR1, FOXD3, MFAP2, TOX3, HIPK2, NOB1, MELTF, SCGB2A1, MGAT5, CD99, TRAC, MICB, SGSM3, DESI1, TMEM97, FOXO4, TNRC6A, RBMS3, CYTB, SRPX2, PCDH17, MMP8, IL37, GLS2, MMP16, CD200, DKK4, BBC3, MT1F, MTBP, SND1, LAT, H3P29

X-Linked Intellectual Disability Wikipedia

Contents 1 Syndromes 2 List of genes 3 See also 4 References 5 External links Syndromes [ edit ] Several X-linked syndromes include intellectual disability as part of the presentation. These include: Coffin–Lowry syndrome MASA syndrome MECP2 duplication syndrome X-linked alpha thalassemia mental retardation syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia List of genes [ edit ] Following is a list of genes located on the X chromosome and linked to intellectual disability. ... PMID 20014364 . ^ "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME" . omim.org . Retrieved 2018-03-09 . ^ "Microduplication Xp11.22-p11.23 syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability" . ... External links [ edit ] Classification D MeSH : D038901 v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia 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 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 ) 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

IL1RAPL1, ZNF41, UPF3B, ZNF711, ZNF674, RAB39B, SYP, DLG3, OPHN1, ATRX, PQBP1, SLC6A8, CASK, PAK3, IQSEC2, ZMYM3, GDI1, ARHGEF9, AGTR2, BRWD3, FGD1, ZNF81, DIPK2B, ARHGEF6, MAOA, PCDH19, XK, PTCHD1, RAB40AL, ARX, PHF8, KDM5C, MECP2, FMR1, CUL4B, FRAXE, RPS6KA3, L1CAM, AP1S2, MBD2, ABCG2, AFF2, SOX3, ACSL4, ATR, SLC16A2, SMS, SMARCA1, UBE2A, SLC9A6, FTSJ1, PHF6, HSD17B10, GRIA3, ZCCHC12, MED12, ATP6AP2, IL1RAPL2, ARHGAP1, KIAA1109, CACUL1, CDKL5, F9, REST, G6PD, SOS1, THOC2, WNK3, IL1B, PJA1, IL1RAP, NLGN4X, SHROOM4, NXF5, IL1A, IL17RB, WWOX, DTL, VCX3A, ZDHHC9, RPS6KA6, MRX49, MUL1, TMEM47, KDM7A, OCRL, MRX82, FGF13, NEXMIF, FRAXA, MRX81, ELK1, GFAP, ZDHHC15, CBLL2, GH1, HCFC1, AR, TMEM185A, AGFG1, HTC2, PAMR1, MRX73, SYN1, CHD3, IL18RAP, CLCN4, UXT, SMARCA2, USP9X, ZMYM2, CD34, SMARCA4, NCS1, XIST, ALAS2, TYMS, TP53, TSPAN7, TERC, CHM, RDXP2, RBBP7, CALCR, RASGRF1, PHOX2A, RCOR1, DMD, STS, ARSD, MID2, MAGED2, DAXX, GPHN, OLIG2, PRKN, PDC, HUWE1, PLP2, POU3F4, CALR

Thyroid Cancer Wikipedia

May occur in women with familial adenomatous polyposis and in patients with Cowden syndrome . Newly reclassified variant: noninvasive follicular thyroid neoplasm with papillary-like nuclear features is considered an indolent tumor of limited biologic potential. Follicular thyroid cancer (10 to 20% of cases [22] ) – occasionally seen in people with Cowden syndrome. Some include Hürthle cell carcinoma as a variant and others list it as a separate type. [3] [23] Medullary thyroid cancer (5 [22] to 8% of cases) – cancer of the parafollicular cells, often part of multiple endocrine neoplasia type 2 . [24] Poorly differentiated thyroid cancer Anaplastic thyroid cancer (less than 5% of cases [22] ) is not responsive to treatment and can cause pressure symptoms.

RET, BRAF, KRAS, NRAS, HRAS, TP53, TSHR, SLC5A5, CXCL8, PPARG, CCND1, TERT, MSH6, NCOA4, PTGS2, TPM3, PRKAR1A, RAP1GAP, HIF1A, CCL2, IL6, TNF, ENPP2, IL1B, EPOR, CXCL10, PRDM2, EPO, BRD4, PDGFA, PTGES2, TCF7L1, CSF2, HPGD, IFNA2, RXRA, TPR, CDKN1A, HABP2, CP, PTEN, LAMA2, CDK1, PIK3CA, GNAS, MLH1, MSH2, EPCAM, GDNF, TGFBR2, RPS20, CTNNB1, CCDC6, AKT1, CDKN2A, MLH3, PIK3CG, NTRK1, PIK3CD, LOC110806263, TPCN1, FAN1, PIK3CB, SGSM3, ECE1, NRTN, SEMA3C, PAX8, BMPR1A, HT, NKX2-1, LMNA, F9, MAPK1, TPO, SEMA3D, FN1, SEMA4A, VEGFA, PMS2, TAS2R38, BCL2, EGFR, EDNRB, PMS1, EDN3, TG, PTCH1, LGALS3, FOXE1, GSTT1, MMP2, RASSF1, TGFB1, S100A4, STAT3, ERBB2, HMGA2, XRCC1, MTOR, EPHB2, APC, CD274, MUC1, VEGFC, KRT19, ESR1, EGF, IGF1, CALCA, MIR146B, GSTM1, THRB, CYP19A1, GSTP1, NOTCH1, PTTG1, PROM1, RUNX2, CXCR4, TNFSF10, MAP2K7, XRCC3, PTTG1IP, TP73, THBS1, SMUG1, TIMP1, FAS, FOLH1, CD44, MALAT1, ALK, SLC26A4, MET, MTHFR, FGF2, SMAD4, TTF1, LCN2, TFF3, SST, FGFR2, LOX, NFE2L2, FHIT, IDH1, TICAM2, IDH2, IFI27, ARHGAP24, BDNF, MIR221, ICAM1, ZEB1, GDF1, MMP9, MIR146A, RNH1, SHC3, DCTN6, RARB, TMED7, TMED7-TICAM2, ZNRD2, HMGA1, H3P23, PTCSC3, SERPINB5, IL10, FOXA1, PTH, ZNF395, CDH1, PSMD9, PCNA, SLC2A1, CYP1A1, KDR, PAK1, PPP1R13L, RAF1, PTK2, LEP, PARP1, RELA, MMP14, MIR21, SPP1, RLN2, MEN1, ID1, HSP90AA1, SAI1, UCA1, SYT1, ALB, MAP2K1, MMP11, MDM2, HNF1B, RPE65, SOD3, TEP1, GABPA, ADGRE5, TWIST1, AR, YAP1, TMPRSS4, PLK1, RASAL1, MIR126, BECN1, IQGAP1, PKM, SLIT2, FBLIM1, ABCG2, GDF15, CRABP1, GOPC, TXNRD2, CCND2, POSTN, ADGRE2, CCR6, CKAP4, CHEK2, HPGDS, CDKN1B, SOSTDC1, CDK4, TCIM, TP63, BAG3, EIF4E, PATZ1, IGF2, UVRAG, PRIMA1, SNHG15, ATM, SLCO6A1, EZH2, AFAP1-AS1, IGF1R, GSTK1, IGFBP7, EIF1AX, WNK1, GORASP1, ECM1, TP53BP1, MT1G, MST1, PDGFB, PTGDS, PDCD1, PDGFRA, NTRK3, MMP1, COX2, NFKB1, NNMT, POU5F1, MFAP1, MGMT, NME1, MKI67, PLAU, MYC, NRCAM, NAT2, PTPN11, NECTIN1, CCDC80, MTDH, SNHG7, AFAP1L2, RASSF5, MUL1, C14orf93, NDRG2, SMURF1, ZNF331, KRT20, ERRFI1, IL23A, ABI3, NDUFA13, LINC00312, SNX5, NUPR1, ABI3BP, KLB, MIR148A, MIR150, MIR497, MTCO2P12, KLLN, VTRNA2-1, HOTAIR, MIR625, POU5F1P4, POU5F1P3, MIR524, MIR375, MIR19A, MIR338, MIR7-3, MIR7-2, MIR7-1, MIR27A, MIR205, MIR204, MIR20A, CBX7, SIRT3, DICER1, STC1, TSG101, TSC2, SEC62, THRA, TAZ, TAF1, STRN, STK11, SSTR2, MBD1, SSTR1, SRC, SNAI1, SLC2A3, SDHD, S100B, S100A1, RAD51, TXN, VDR, ZHX2, GRAP2, UBE2C, WDR3, PDPN, TXNIP, AKAP9, AKT3, HDAC9, NR1D1, KL, VHL, IL32, XPR1, SPHK1, PPM1D, BAP1, TKTL1, WT1, VIM, MBL2, H3P10, HDAC2, CDKN2C, CDKN2B, ETV6, LAMB3, IL4, CD40, FOXO3, BSG, KIT, INSR, NRG1, ESR2, GSTM2, CDK5, BAK1, BAAT, CDH6, GPX3, APRT, FGFR4, MAPK14, DECR1, JUN, ETS1, GRK2, FOS, CYP3A4, BUB1B, GH1, ACTB, DPP4, CCR7, CXCR1, TACSTD2, RCAN1, DIO2, HSPG2, GPER1, CLU, H2AX, GOT2, CYP24A1, CEACAM5, CAV1, CEBPB, CLDN7, GSM1, GNB3, BUB1, TSPO, CA12, PAG1, CAPN5, TMEM184C, ATF7IP, WDR11, USE1, SMAD7, MREG, HIF1AN, MIEF1, CAMP, DLL4, SLC35F2, CALCR, TRIM44, GATAD2A, SYTL2, RASIP1, TUG1, ATG16L1, PACC1, ZNF654, FBXW7, EMSY, LGR4, DDR1, SAGE1, IL17RB, HEMGN, XPO5, SLC12A9, ALX4, KLF5, TINAGL1, SOX17, HHIP, INF2, BRS3, CREB3L2, MARCKSL1, BMP4, FRTS1, UBE2Z, DUSP26, GGCT, MAPKAP1, FSD1, BHLHE41, BMP1, GAS5, LGR6, ACKR3, ACE2, PCBP4, SLURP1, PELI1, TSE2, AICDA, BTG1, INTS2, CASP8, SRGAP1, MIB1, SEMA6A, KLHL14, NCOA5, ANKRD36B, HAMP, CXCL16, IL21, TERF2IP, REV1, CPSF2, CD74, NEMP1, SASH1, CDKN1C, SIRT4, SIRT1, ANGPTL2, CDK2, LPAR3, CDH5, SNHG1, ERC1, PPP1R15A, TRIM29, PRDX5, METTL7A, CD68, RNF19A, POT1, CD63, WWTR1, KAZN, PPRC1, POLDIP2, SDS, HCP5, C1QL1, PPARGC1A, GADD45G, COPS8, CBX1, RAB40B, TMED10, COPS6, CETN1, DKK1, RAPGEF4, CORO1A, WIF1, SLCO2B1, TDGF1P6, COPZ1, KLRK1, MMRN1, RPIA, LRIG1, NOC2L, DUOX1, RUNX3, NOX4, DELEC1, IL22, F11R, FOXP3, TCO, CCNC, CCKBR, SDF4, ZMYND10, STOML2, RHBDF2, SIRT7, LARP7, GINS2, GHRL, WWOX, CAT, CASR, FXYD5, DUOX2, CCNE1, FGF21, PDCD4, EHF, CD40LG, FOXD3, NOX1, LAT, TSPAN13, DKK3, CD34, IL37, CD86, SPANXA1, RABGEF1, MS4A1, RGCC, NOB1, PYCARD, CD1D, TFCP2L1, CCNG2, OBP2A, TCTN1, BID, VTCN1, MIR30A, MIR34A, APAF1, ANXA6, ANXA5, MIR17HG, NR2F1-AS1, NRARP, VN1R17P, ZFAS1, GPR166P, MIR326, MIR335, ANXA1, MIR340, MIR369, MIR370, MIR361, ANPEP, MIR383, DUXAP9, MIR429, MIR30D, MIR299, WLS, MIR296, MIR182, MIR184, MIR196A2, MIR197, FASLG, KLK3, MIR200A, BIRC5, MIR206, XIAP, MIR211, MIR212, MIR214, MIR217, MIR218-1, MIR218-2, APEX1, MIR222, MIR25, MIR26B, APEH, MIR451A, ANGPT2, AMH, AMBP, ADRA2B, MIR4319, PROX1-AS1, CCAT1, MICA, KLRC4-KLRK1, SPRY4-IT1, FALEC, OPCML-IT1, BANCR, LINC00210, ADRA1A, FOXD3-AS1, PANDAR, DARS-AS1, PTCSC2, LINC01410, PARP4, ADCYAP1, H3P17, H3P47, MANCR, MIR1225, TNRC6C-AS1, MIR592, MIR510, ALOX15, RASSF10, ALOX12, PARP4P2, LOC646736, ALDH1A1, CXADRP1, MIR539, MIR622, MIR885, ALCAM, MIR639, MIR650, POTEF, UNC5B-AS1, AHR, AFM, MIR875, MIR873, MIR18A, MIR17, MIR15A, HORMAD2, MIR22HG, DNER, PKHD1L1, PRDM6, HTRA3, PRRT2, CYTOR, LINC00313, LMTK3, VASN, NIBAN1, MRGPRX3, MRGPRX4, LRRK2, ATP5F1E, PPARGC1B, GPR151, ATIC, MUC15, ATF1, SPC24, RITA1, MASTL, ADGRG7, CEACAM1, BLM, FHOD3, PPP1R2C, ULBP2, ITIH5, LIMD2, COL18A1, SPRY4, HPSE, BCR, RTN4IP1, ITCH, FSD1L, MRO, ING5, PROK1, CARD11, BCAT2, BAX, FOXD2-AS1, GLIS1, ASCL1, MIR154, ASAH1, RSPO2, ZNF677, RHOB, BMP8A, RHOA, ARG2, LINC01194, MIRLET7C, MIR100, MIR106A, MIR106B, MIR125A, ARG1, MIR132, MIR137, MIR139, MIR143, MIR145, ARAF, AQP4, AQP3, TMED10P1, ATG9B, ARR3, METTL7B, RDH10, CBLL2, DEUP1, SLC5A8, OXER1, DACT2, GLIS3, ZCCHC12, ZNF367, FLCN, NEAT1, ANO5, DIPK2A, USF3, UNC5B, GPRC6A, ARSA, CTAG1A, CASC2, MRGPRX1, LILRB1, HMGN4, CNR2, NES, HNRNPD, PTPRF, PTPRJ, FOXA2, RAD9A, HMOX1, RAD52, HMGB1, RAP1A, RAP1B, MR1, RAP2A, RARA, HLA-G, RBBP4, RBP1, OPN1LW, HLA-C, HIC1, RGS4, RLN1, PTPN2, PTPN1, PTMS, PROX1, PRKCE, PRKCQ, PRKDC, IFNA13, MAPK3, MAPK8, IFNA1, ID3, EIF2AK2, TNC, PTMAP4, HSPA9, HSPA5, HPT, HPRT1, PTGS1, HOXC10, PTH1R, HNRNPF, PTMA, HHEX, RNASE3, ABCE1, GPX1, CXCL1, GRB14, SLC6A9, SLC7A1, SLC16A2, SLIT3, SLPI, SNAI2, HLTF, FSCN1, SKP2, GPR42, SORD, SOX9, SOX11, SP1, SPG7, CXCR3, SRP72, GPD2, SLC1A3, SHH, ROS1, GYPA, HGF, RPL29, RPL36A, RRAS, HDAC1, RXRG, HBB, SORT1, S100A6, GUSB, SGK1, SCD, SCN10A, CCL15, CCL20, SDC1, SDC2, SDHB, SDHC, SELP, PRKCD, PRKCB, PRKCA, MYCN, LASP1, MT1M, COX1, L1CAM, MYO1F, KIF22, MUTYH, MVD, MYCL, MYH9, LDHA, NCAM1, KISS1, NFIL3, KIR3DL1, KIR2DS5, CD82, JUP, NOTCH3, NOVA1, MT1A, LETM1, JUND, LRP1, MCL1, MCM7, SMAD3, MDM4, MAD2L1, BCAM, KITLG, LRPAP1, LRP4, LPA, CITED1, LOXL2, MMP7, LIMK1, LIG4, MMP13, LGALS1, MOS, MRC1, ABCC1, NPM1, JUNB, IFNG, IL1A, SERPINE2, IL17A, IL13RA2, CXCR2, PIN1, PITX2, PLAG1, IL2, IL1R1, IGSF1, SERPINA1, IGFBP5, POU5F1B, PPARA, PPARD, IGF2R, PPP6C, PRKAA1, PRKAA2, PRKAB1, IL18, PHB, ITGB4, PCM1, ITGB1, P2RX7, PA2G4, PAEP, ITGAM, REG3A, PRKN, PCBP1, SERPINA5, ITGA3, PGR, PCSK2, IRS1, IRF5, INSL3, IDO1, ILK, PECAM1, PEG3, PGF, SSTR3, SSTR4, ST13, S1PR2, SPAG9, CLDN1, SLC16A4, SLC16A3, CCNE2, LPAR2, DCN, DHRS3, PDLIM7, KLF4, ACE, TRIP13, CYP2B6, UBE4A, CXADR, CCN2, CTAG1B, GSTO1, MAP4K4, NAPSA, SOCS3, ALDH1A2, CSF1R, PEA15, NQO1, AGPS, BHLHE40, MADD, PDLIM4, CYB5R3, PTCH2, NCOA1, PDE5A, CDC23, AKAP4, MBTPS1, DDT, RAB11A, INPP4B, DDIT3, AKR1C2, HCAR3, KSR1, CDK5R1, CST6, CXCL14, DIAPH1, CIB1, TFG, CITED2, NDRG1, BASP1, RAPGEF3, CRK, MC1R, SEC23B, CREBBP, CLDN4, CTDSPL, AHSA1, MAP3K8, COL11A2, COL1A1, IGF2BP3, KHDRBS1, CXCR6, CNTN1, PTGES3, SPRY2, TRIM13, MINPP1, WDR1, CSF1, CLOCK, PCLAF, RASSF2, EIF4A3, TOMM20, KEAP1, PJA2, ZBTB5, GOLGA5, PSME3, MED12, NR1I3, RBX1, REC8, CRYZ, HDAC6, HUWE1, CRYGD, PDZK1IP1, TTF2, CAVIN2, GPC3, FGF3, TIE1, FOXO1, TIMP3, TIMP4, FOXM1, TJP1, VEGFD, TLR3, TLR4, PTK2B, FLT4, FABP4, F3, EZH1, TPT1, TRPC1, TSC1, ETFA, ESRRA, ERCC5, FLT3, TGFB3, TXNRD1, HNF1A, GJB3, STK3, STK4, GHRHR, GHRH, GFRA1, ABO, GEM, TBX15, GAS6, FOSB, TCF3, GAPDH, TCP1, GAP43, FYN, TF, TFAP2B, FUCA1, FRA16D, ERCC2, UBE2N, RECK, AIMP2, YY1, ZIC1, ZNF20, DUSP6, DAP3, BTG2, DUSP4, IL1R2, NTT, DNMT3A, XRCC5, SHOC2, RASSF7, DNMT1, IFT88, SLC7A5, SARDH, FZD1, FZD4, FZD8, YES1, XRCC4, UCHL1, ELAVL1, UCP2, UPP1, USF1, USF2, ERBB3, VCP, VDAC2, ELK1, ELF3, EIF2S1, E2F1, EZR, EGR1, WIPF1, WNT5A, WRN, EDNRA, XIST, EDN1, XRCC2, TBX1

Pik3ca-Related Segmental Overgrowth GeneReviews

Figure 2. Features of MCAP syndrome. A boy age 40 months with MCAP syndrome (left) and his unaffected twin sister (right). ... CLOVES (or CLOVE) syndrome and fibroadipose hyperplasia (Table 2) may be associated with MEG or HMEG, and thus overlap with MCAP syndrome [Gucev et al 2008]. ... Proteus syndrome can be primarily distinguished from CLOVES syndrome and fibroadipose hyperplasia by the postnatal onset of overgrowth. ... HHML syndrome may overlap with CLOVES syndrome given that overgrowth can be progressive and spinal complications and scoliosis have been reported [Lindhurst et al 2012]. SOLAMEN syndrome is characterized by atypical features of Cowden syndrome including segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevi.

Capillary Malformation-Arteriovenous Malformation Syndrome GeneReviews

Each child of an individual with CM-AVM syndrome has a 50% chance of inheriting the pathogenic variant. ... Suggestive Findings CM-AVM syndrome should be suspected in individuals who have any of the following: Capillary malformations (CMs), the hallmark of CM-AVM syndrome. ... Another estimate of prevalence using the Exome Aggregation Consortium dataset is around 1:20,000 ( RASA1 -CM-AVM syndrome) and 1:12,000 ( EPHB4- CM-AVM syndrome) [Amyere et al 2017]. ... Large capillary malformations are not typical. GNAQ Sturge-Weber syndrome (SWS) (OMIM 185300) See footnote 2. ... To date no RASA1 pathogenic variants have been identified in individuals with typical Klippel-Trenaunay syndrome [Revencu et al 2013a]. 8. PTEN hamartoma tumor syndromes include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN -Proteus syndrome, and Proteus-like syndrome. 9.

RASA1, STAMBP, CCNH, EPHB4, ACVRL1, RASA2, ENG, RAB1B, NAA25, NSUN5, RAB6B, BRD8, SYNGAP1, RAP2B, ARF3, RAP1B, NOP2, MEF2C, IGSF1, HNRNPU, CTNND1, SPRED1

Parkes Weber Syndrome MedlinePlus

Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. ... Some vascular abnormalities seen in Parkes Weber syndrome are similar to those that occur in a condition called capillary malformation-arteriovenous malformation syndrome (CM-AVM). CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause. Frequency Parkes Weber syndrome is a rare condition; its exact prevalence is unknown. Causes Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene. ... However, it is unclear how these changes lead to the specific vascular abnormalities and limb overgrowth seen in people with Parkes Weber syndrome. Learn more about the gene associated with Parkes Weber syndrome RASA1 Inheritance Pattern Most cases of Parkes Weber syndrome occur in people with no history of the condition in their family.
Capillary Malformation-Arteriovenous Malformation Syndrome MedlinePlus

Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. ... Some vascular abnormalities seen in CM-AVM are similar to those that occur in a condition called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause. Frequency CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. ... Learn more about the gene associated with Capillary malformation-arteriovenous malformation syndrome RASA1 Inheritance Pattern This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Capillary Malformation-Arteriovenous Malformation Orphanet

This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas. ... The association of CM with arteriovenous fistulas or Parkes-Weber syndrome (see this term) was reported in some cases. Etiology The syndrome is caused by heterozygous mutations in the RASA1 gene (5q13.3), encoding RAS p21 protein activator 1.

Carney Complex GeneReviews

Symptomatic individuals have Cushing syndrome. The hypercortisolism of PPNAD is usually insidious in onset. ... Disorders in which lentigines occur include benign familial lentiginosis (OMIM 151001), Peutz-Jeghers syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome, and the Bannayan-Riley-Ruvalcaba syndrome, which is one of the phenotypes observed in the PTEN hamartoma tumor syndrome. The café au lait macules of Carney complex (CNC) can resemble those of McCune-Albright syndrome, neurofibromatosis 1, neurofibromatosis 2, and Watson syndrome (OMIM 193520). ... Endocrine tumors. Thyroid tumors also occur in Cowden syndrome, one of the phenotypes observed in the PTEN hamartoma tumor syndrome. ... Adrenal cortical tumors are also seen in Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, multiple endocrine neoplasia type 1, congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency, and the McCune-Albright syndrome [Kjellman et al 2001].

PRKAR1A, MEN1, GH1, NR1I3, CXADRP1, CXADR, CNC2, TRIM13, SPG7, CASR, ARR3, SLC8A1, POMC, GNAS, RCVRN, APRT, MFAP1, CDKN1B, AIP, CYP3A4, PDE11A, PRKAR1B, PRL, NR1I2, STK11, SSTR4, HCAR3, SST, UGT1A, SCLC1, ASMTL, SMARCB1, DICER1, USP8, LPAR2, CXCR6, SGSM3, TRAC, GAL, SDF4, UGT1A1, ACKR3, PTBP2, WDR26, ADO, CABLES1, AZIN2, GADL1, SMARCA4, ADRA1A, SDHC, RET, BRS3, CAT, CAV1, CD247, CD19, CETN1, CTNNB1, CYP2B6, CYP19A1, EDNRA, MTOR, GNA11, GPR42, NR3C1, CXCL2, HTC2, IGF1, INHA, ITGA5, ITGAL, ITGAV, ITGB2, KCNJ2, KCNJ5, MAS1, MPO, MSH2, ADRA2B, PTEN, PRKACB