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  • Testicular Dysgenesis Syndrome Wikipedia
    PMID 11331648 . ^ VIRTANEN, H; RAJPERTDEMEYTS, E; MAIN, K; SKAKKEBAEK, N; TOPPARI, J (1 September 2005). ... PMID 16005920 . ^ Toppari, J; Larsen, J C; Christiansen, P; Giwercman, A; Grandjean, P; Guillette, L J; Jégou, B; Jensen, T K; Jouannet, P (1996-08-01). "Male reproductive health and environmental xenoestrogens" . ... PMID 8880001 . ^ Skakkebæk, N. E.; Meyts, E. Rajpert-De; Main, K. M. (2001-05-01). "Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects: Opinion" . ... PMID 37351 . ^ Skakkebæk, N. E.; Meyts, E. Rajpert-De; Main, K. M. (2001-05-01). "Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects: Opinion" . ... PMID 26582516 . ^ Skakkebæk, N. E.; Meyts, E. Rajpert-De; Main, K. M. (2001-05-01). "Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects: Opinion" .
    TGFBR3, INSL3, BMP7, SRY, AR, POU5F1, POU5F1P3, SPRY4, SOX9, SLC22A3, AMH, KITLG, NR5A1, ESR2, ESR1, DMRT1, CAD, BAK1, POU5F1P4
  • Fanconi Syndrome Wikipedia
    Fanconi syndrome Specialty Nephrology , endocrinology Fanconi syndrome or Fanconi's syndrome ( English: / f ɑː n ˈ k oʊ n i / , / f æ n -/ ) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney . ... See also [ edit ] Familial renal disease in animals for Fanconi syndrome in Basenjis References [ edit ] ^ " Fanconi syndrome " at Dorland's Medical Dictionary ^ Fanconi Syndrome at Merck Manual Home Health Handbook ^ Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K (March 2010). "A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome". ... PMID 17494094 . ^ Assmann N, Dettmer K, Simbuerger JM, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J (May 2016). ... PMID 15722646 . ^ Hashimoto T, Arakawa K, Ohta Y, Suehiro T, Uesugi N, Nakayama M, Tsuchihashi T (2007). ... External links [ edit ] Classification D ICD - 10 : E72.0 ICD - 9-CM : 270.0 MeSH : D005198 DiseasesDB : 11687 SNOMED CT : 40488004 External resources MedlinePlus : 000333 eMedicine : ped/756 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy
    XPR1, SLC34A1, EHHADH, GPX3, SLC2A2, LRP2, CTNS, OCRL, HNF4A, BRIP1, FANCI, NBAS, ABCC4, RAPGEF5, VNN1, VNN2, BCS1L, SCN7A, CLCN5, NAGLU, IGF2R, HSPA4, FANCA, CYP51A1, ABCC2, NDUFAF6
  • Cherry Eye Wikipedia
    See also [ edit ] Conjunctivitis , commonly referred to as pink eye References [ edit ] ^ a b c d e f g h Gelatt, K. N. (2000). Essentials of Veterinary Ophthalmology . Baltimore: Lippincott Williams & Wilkins. ^ a b c d e f Gelatt, K. N. (2001). Color Atlas of Veterinary Ophthalmology . Baltimore: Lippincott Williams & Wilkins. ^ a b c d e f g h i j k l m n o Slatter, D. (2001). Fundamentals of Veterinary Ophthalmology : Third Edition. ... Retrieved 1 December 2012. ^ a b c d e f g h Plummer, C., Kallberg, M., Gelatt, K., Gelatt, J., & Barrie, K. P. (2008).
  • Apraxia Of Lid Opening Wikipedia
    Eur Neurol. 2001. 45(1):53-4 ^ Abe K, Fujimura H, Tatsumi C, Toyooka K, Yorifuji S, Yanagihara T. ... J Neurol Neurosurg Psychiatry. 1995 Dec. 59(6):629-32 ^ Schmidtke K, Büttner-Ennever JA. Nervous control of eyelid function. ... Toxicon. 2008 Dec 6 ^ Yamada S, Matsuo K, Hirayama M, Sobue G. The effects of levodopa on apraxia of lid opening: A case report. ... Mov Disord. 1994 Jan. 9(1):116-7 ^ Kerty E, Eidal K. Apraxia of eyelid opening: clinical features and therapy.
    • Apraxia Of Eyelid Opening OMIM
      Defazio et al. (1998) described 10 new patients with 'so-called apraxia of eyelid opening.' They concluded that the term 'apraxia' may not be the correct descriptive term even when the eyelid disturbance occurs without any other central nervous system disease. Familial clustering of the isolated finding in 1 patient was consistent with a genetic contribution: 2 brothers, their father, and 2 paternal aunts were thought to be affected. Combining their 10 patients with 11 previously reported cases of isolated so-called apraxia of eyelid opening, Defazio et al. (1998) found that the peak age at onset was the sixth decade and that there was a female preponderance of 2 to 1. The characteristic inability to initiate lid elevation was frequently associated with failure to sustain lid elevation, thus suggesting that eyelid motor control may be abnormal.
  • Equine Melanoma Wikipedia
    S; Shaw, E; Buechner‐Maxwell, V; Scarratt, W. K; Crisman, M; Furr, M; Robertson, J (2013). ... PMID 12141308 . ^ a b c Pielberg, G.; Golovko, A.; Sundström, E.; Curik, I.; Lennartsson, J.; Seltenhammer, M.; Druml, T.; Binns, M.; Fitzsimmons, C.; Lindgren, G.; Sandberg, K.; Baumung, R.; Vetterlein, M.; Strömberg, S.; Grabherr, M.; Wade, C.; Lindblad-Toh, K.; Pontén, F.; Heldin, C.; Sölkner, J.; Andersson, L. (2008). ... Journal of the American Veterinary Medical Association . 229 (10): 1617–1622. doi : 10.2460/javma.229.10.1617 . ^ Goetz, T. E.; Ogilvie, G. K.; Keegan, K. G.; Johnson, P. J. (1990).
  • Neointimal Hyperplasia Wikipedia
    . ^ a b c d Serrano, M. Concepcion; Vavra, Ashley K; Jen, Michele; Hogg, Melissa E; Murar, Jozef; Martinez, Janet; Keefer, Larry K; Ameer, Guillermo A; Kibbe, Melina R (2011). ... Circulation . 105 (24): 2917–22. doi : 10.1161/01.cir.0000018168.15904.bb . PMID 12070123 . ^ Shah, P. K (2003). "Inflammation, Neointimal Hyperplasia, and Restenosis: As the Leukocytes Roll, the Arteries Thicken" . ... PMID 10618299 . ^ Kay, I. P; Wardeh, A. J; Kozuma, K; Foley, D. P; Knook, A. H. M; Thury, A; Sianos, G; Van Der Giessen, W.
    REN, PIK3CA, CCL2, APOE, PIK3CG, PIK3CD, PIK3CB, ISYNA1, FOXO3, NOS2, CDKN1B, NOS3, ADIPOQ, RNF10, IL6, MBD2, NOXA1, HMGB1, SIRT1, GABPA, MMP9, ACTB, NFE2L2, S1PR1, SERPINF1, TRPC1, POLD1, TGFB1, AGT, MAPK3, TAGLN, PCNA, HMOX1, CDK1, MIR21, CETP, PNPLA2, XBP1, MIR222, UCP2, VEGFA, MIR221, VWF, MIR22, NR4A3, MIR29A, PEA15, TNFSF12, CREG1, NRP1, KAT2B, MIR223, MIR320A, ACSS2, SUV39H1, MTCO2P12, TMED7-TICAM2, SELE, SELP, SOS1, STAT3, STIM1, CCR2, MIR33A, SPAG11A, NCF1, PLF, TGM2, TNF, TP53, TNFSF12-TNFSF13, NR1I2, IER3, MIR155, SETD2, SIRT3, CAVIN1, ANGPTL2, PLA2G15, POLDIP2, SERP1, ACCS, AKT1S1, MIR146A, TMED7, CKLF, TNFRSF12A, NOD2, SARAF, DYM, KDM3A, KDM6B, MMRN1, CELIAC5, TICAM2, KLF4, MIR145, MIR126, MFN2, NR1H3, RAD50, SPRY1, SEMA3A, ENTPD8, SPAG11B, CIB1, ZNRD2, DCTN6, NFAT5, S100A12, S100B, PRKG1, REST, EPHB4, DAPK3, DBN1, DCN, DDX5, DOCK2, S1PR3, EFNB2, ELN, EPO, CTSS, EZH2, F10, FHL2, FMOD, GATA4, GATA6, GDNF, GIP, DAPK1, CTSL, PTPRJ, CASP1, AGTR1, AKT1, ANGPT2, BMP2, BMP3, BSG, TSPO, CALCA, CAV1, CTSK, CD36, CD59, CDK4, CDK9, CHGA, CLU, MAPK14, CTNNB1, GJA1, HDAC2, HGF, PRKAA1, NFKB1, NPPC, NUCB2, SERPINE1, PDZK1, PECAM1, PLAU, PPARG, PRKAA2, HIF1A, PRKAB1, MAPK6, PSMD9, PTCH1, PTEN, PTGER2, PTGS2, PTPN1, MYO1E, MYH11, MYBPH, MYO1F, HMGB2, IFI27, IFI35, IFNG, CCN1, IL1B, IRF1, JAK3, KCNN4, LEP, LGALS1, MARCKS, SMAD3, MFAP4, MMP14, MSRA, COX2, H3P23
  • Mixed-Phenotype Acute Leukemia Wikipedia
    Jude Children's Research Hospital , Tennessee, the name "acute leukaemia with mixed lymphoid and myeloid phenotype" was introduced. [14] The World Health Organization in its WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues (2008) adopted the name "mixed-phenotype acute leukemia" to include leukemias of ambiguous lineage, acute undifferentiated leukemias and natural killer lymphoblastic leukemias. [4] References [ edit ] ^ a b Weinberg, O K; Arber, D A (2010). "Mixed-phenotype acute leukemia: historical overview and a new definition" . ... PMID 19570749 . ^ Khan, M; Siddiqi, R; Naqvi, K (2018). "An update on classification, genetics, and clinical approach to mixed phenotype acute leukemia (MPAL)". ... PMC 4896164 . PMID 27233483 . ^ Slany, R. K. (2009-07-01). "The molecular biology of mixed lineage leukemia" . ... PMID 30438955 . ^ Prentice, A. G.; Smith, A. G.; Bradstock, K. F. (1980). "Mixed lymphoblastic-myelomonoblastic leukemia in treated Hodgkin's disease" .
    KMT2A, ABL1, FLT3, HOXA9, BCR, MTTP, TRBV20OR9-2, KAT6A, NCOA2, PSMB6, WT1, YY1, KMT2D, CCNA1, KMT2B, NUP98, LRPPRC, MRPL28, SUB1, DLL1, NXT1, BAALC, CT45A2, COMMD3-BMI1, ABCB1, MPO, NM, DNASE1, BMI1, CD33, CD34, CD79A, CDKN2B, CSF2, CSF3, ERG, ANPEP, ETV6, IGFBP7, IGH, IL3, IL6, IL6ST, KIT, H3P9
    • Biphenotypic Acute Leukaemia Wikipedia
      ABL/BCR could active several molecular pathways: RAS signaling could be activated by BCR/ABL by GRB2 adaptor which interact with Y177 of BCR. Through AKT/PKB , PI3-K pathway could also be activated. STAT5 , 1, and 6 has been reported that is a major molecular signaling event activated by BCR/ABL. ... PMID 17369128 . ^ Carter, R; Dubé I; McKeithan T; Carstairs K; DeHarven E; Bailey D; Scott JG. (1991). ... PMID 21228332 . ^ Saito, M; Izumiyama, K.; Mori, A.; et al. (2013). "Biphenotypic acute leukemia with t(15;17) lacking promyelocytic-retinoid acid receptor α rearrangement" . ... S2CID 22590318 . ^ Saito, M; Izumiyama, K.; Mori, A.; et al. (2013). "Biphenotypic acute leukemia with t(15;17) lacking promyelocytic-retinoid acid receptor α rearrangement" . ... PMID 24416501 . ^ Nagasawa, F; Nakumura, Y.; Tokita, K.; et al. (2013). "Detection of bcr-abl1 chimeric gene-positive neutrophils in a patient with mixed phenotype acute leukemi".
  • Factor X Deficiency Wikipedia
    Produced in the liver FX when activated cleaves prothrombin to generate thrombin in the intrinsic pathway of coagulation. This process is vitamin K dependent and enhanced by activated factor V . ... In the acquired form of FX deficiency an insufficient amount of factor X is produced by the liver due to liver disease, vitamin K deficiency , buildup of abnormal proteins in organs ( amyloidosis ) or certain medications (i.e. warfarin ). [1] In amyloidosis FX deficiency develops as FX and other coagulation factors are absorbed by amyloid fibrils. [3] Diagnosis [ edit ] Blood tests are needed to differentiate FX deficiency from other bleeding disorders. [1] Typical are normal thrombin time , prolonged prothrombin time (PT) and prolonged partial thromboplastin time (PTT). [1] FX antigen and its coagulant activity can be used to classify the severity of the condition: [4] Type I has low levels of FX antigen and activity. ... While effective this treatment carries a risk of blood-borne viruses and fluid overload. If vitamin K levels are low, vitamin K can be supplied orally or parenterally.
    F10, F2, BRAF, COX8A, F9
    • Factor X Deficiency MedlinePlus
      Acquired factor X deficiency can also be caused by certain drugs such as medicines that prevent clotting, or by a deficiency of vitamin K. Learn more about the gene associated with Factor X deficiency F10 Inheritance Pattern When this condition is caused by mutations in the F10 gene, it is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
    • Factor X Deficiency OMIM
      A number sign (#) is used with this entry because factor X deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding coagulation factor X (F10; 613872) on chromosome 13q34. Description Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of the factor X protein or by synthesis of a dysfunctional factor X protein (summary by Millar et al., 2000). Clinical Features Girolami et al. (1970) described a congenital haemorrhagic condition due to the presence of an abnormal factor X in a large kindred from Friuli, a remote valley in northeastern Italy.
    • Congenital Factor X Deficiency Orphanet
      A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms. Epidemiology Prevalence of homozygous forms is estimated at 1/1 000 000. Both sexes are equally affected. Clinical description Congenital FX deficiency manifests at any age but in general, severe forms of the disease manifest early in life. Patients may experience severe umbilical cord stump bleeding, recurrent epistaxis, soft-tissue hemorrhages, menorrhagia, easy bruising, intra cranial hemorrhages, hematuria, hemarthroses and excessive bleeding during or following surgery or delivery or trauma. Etiology Inherited congenital FX deficiency is caused by mutations in the F10 gene (13q34) controlling the production of plasma FX.
    • Factor X Deficiency GARD
      Acquired factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and certain types of cancer.
  • Aceruloplasminemia Wikipedia
    Pagon RA; Adam MP; Ardinger HH; Bird TD; Dolan CR; Fong CT; Smith RJH; Stephens K (eds.). "Aceruloplasminemia" . GeneReviews . PMID 20301666 . Retrieved 2014-02-12 . ^ Yoshida, K; Furihata, K; Takeda, S; Nakamura, A; Yamamoto, K; Morita, H; Hiyamuta, S; Ikeda, S; Shimizu, N; Yanagisawa, N (March 1995).
    CP, SLC40A1, ATP7B, HAMP, PANK2, BDNF, FXN, HFE
    • Aceruloplasminemia GARD
      Aceruloplasminemia causes a build-up of iron in the brain and the organs of the body. Signs and symptoms begin in adulthood. People with aceruloplasminemia develop anemia, diabetes, and eye problems. Over time, difficulty controlling movements may occur. These include tremors, chorea , ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. An eye examination may reveal changes in the retina, but these changes typically do not affect vision.
    • Aceruloplasminemia GeneReviews
      Summary Clinical characteristics. Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease is seen in individuals ranging from age 30 years to older than 70 years. The neurologic findings of movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and ataxia (gait ataxia, dysarthria) correspond to regions of iron deposition in the brain. Individuals with aceruloplasminemia often present with anemia prior to onset of DM or obvious neurologic problems. Cognitive dysfunction including apathy and forgetfulness occurs in more than half of individuals with this condition.
    • Aceruloplasminemia Orphanet
      A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms. Epidemiology To date 56 cases have been reported and prevalence has been estimated at about 1/1,000,000-1/1,200,000. Clinical description Aceruloplasminemia presents in adulthood with neurological symptoms including ataxia, involuntary movements (blepharospasm, grimacing, facial and neck dystonia, tremors, and chorea), parkinsonism, depression, and cognitive dysfunction accompanied by retinal degeneration, diabetes mellitus, and iron-refractory anemia. Etiology Aceruloplasminemia is caused by a complete absence of ceruloplasmin ferroxidase activity caused by homozygous mutation of the ceruloplasmin ( CP ) gene (3q23-q24). Diagnostic methods Diagnosis is based on the absence of serum ceruloplasmin and some combination of low serum copper concentration, low serum iron concentration, high serum ferritin concentration as well as hepatic iron overload.
    • Aceruloplasminemia MedlinePlus
      Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time. People with aceruloplasminemia develop a variety of movement problems. They may experience involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive movements and contortions. Other involuntary movements may also occur, such as rhythmic shaking (tremors), jerking movements (chorea), eyelid twitching (blepharospasm), and grimacing.
    • Aceruloplasminemia OMIM
      A number sign (#) is used with this entry because aceruloplasminemia is caused by mutation in the gene encoding ceruloplasmin (CP; 117700). Clinical Features Aceruloplasminemia Logan et al. (1994) reported 2 brothers with complete ceruloplasmin deficiency who presented in their late forties with dementia and diabetes mellitus. The proband had been admitted to hospital at the age of 49 years with a 6-week history of thirst and polyuria and a 2-week history of progressive confusion. Neurologic examination was normal. He was started on a diabetic diet and oral sulfonylurea. At the age of 52, he suddenly left his work one day and was found at home the next day sitting in a chair with the appearance of not having been to bed.
  • Mismatch Repair Cancer Syndrome Wikipedia
    It was first reported by Canadian surgeon Jacques Turcot (1914-1977 ) et al. in 1959 and hence carries the first author's name. [9] See also [ edit ] Gardner syndrome References [ edit ] ^ a b c d Online Mendelian Inheritance in Man (OMIM): 276300 ^ Kratz CP, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer CM, Gallinger S, Wimmer K (June 2009). "Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome" (PDF) . ... PMID 19293170 . S2CID 42347878 . ^ Wimmer K, Etzler J (September 2008). "Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?". ... S2CID 32654505 . ^ Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK (January 2008). ... PMID 18376293 . ^ Jackson CC, Holter S, Pollett A, Clendenning M, Chou S, Senter L, Ramphal R, Gallinger S, Boycott K (June 2008). "Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2".
    PMS2, MLH1, MSH6, MSH2, APC, FBXO11, TP53, CD274, MRC1, BRAF, KRAS, ARID1A, ERBB2, PTEN, CDX2, EGFR, MBD4, CTNNB1, PIK3CA, TYMS, POLE, MSH3, MGMT, IGF2R, PDCD1, BAX, TGFBR2, FAP, PTGS2, SELENOP, TGFB1, SOX9, SMARCB1, ALCAM, MDC1, CCNO, CHEK2, DICER1, MLH3, FOXP3, CHFR, PINK1, PRRT2, GBP5, MCM9, MIR148A, MIR155, IKZF1, NF1, PMS1, PLK1, AR, BAAT, BRCA1, BRCA2, CASP3, CASP7, CD80, CDK4, CDKN2A, ERCC1, ESR1, FANCB, HIF1A, HRAS, EPCAM, MHS6, MAP3K11, MUC2, MUC5AC, MUC6, ALDOB, NF2, OPA1, PAX5, PIK3CB, MIR224
    • Turcot Syndrome GARD
      Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. It may be associated with familial adenomatous polyposis (FAP) or Lynch syndrome (also known as hereditary non-polyposis colorectal cancer or HNPCC). The molecular basis of most Turcot syndrome is either a mutation in APC associated with FAP or a mutation in one of the mismatch repair genes associated with Lynch syndrome ( MLH1 and PMS2 ) . The brain tumors in individuals with APC mutations are typically medulloblastoma , whereas those with mismatch repair mutations are usually glioblastoma multiforme . Turcot syndrome typically follows an autosomal dominant inheritance pattern.
  • Thumb Hypoplasia Wikipedia
    Therefore, a careful examination of both hands is important. [3] Treatment [ edit ] When it comes to treatment it is important to differentiate a thumb that needs stability, more web width and function, or a thumb that needs to be replaced by the index finger. [4] Severe thumb hypoplasia is best treated by pollicization of the index finger. [3] [5] Less severe thumb hypoplasia can be reconstructed by first web space release, ligament reconstruction and muscle or tendon transfer. [3] [5] It has been recommended that pollicization is performed before 12 months, but a long-term study of pollicizations performed between the age of 9 months and 16 years showed no differences in function related to age at operation. [3] It is important to know that every reconstruction of the thumb never gives a normal thumb, because there is always a decline of function. [4] When a child has a good index finger, wrist and fore-arm the maximum strength of the thumb will be 50% after surgery in comparison with a normal thumb. [3] [4] The less developed the index finger, wrist and fore-arm is, the less strength the reconstructed thumb will have after surgery. [3] [4] References [ edit ] ^ a b c d e f g h i j k l m n o p q r Riley, S.A. & Burgess, R.C. (2009). ... Journal of Hand Surgery, vol 34A, 1564–1573 ^ a b c d e f g h i j k l Ashbaugh, H. & Gellman, H. (2009). ... Journal of Craniofacial Surgery, vol 20, number 4, 1039–1044 ^ a b c d e f g h i j k l m n o Manske, P.R. & Goldfarb, C.A. (2009). ... London, United Kingdom: Informa Healthcare ^ a b c d e f g h i j k l m n Light, T.R. & Gaffey, J.L. (2010).
    RPS19, RPL11, MIR17HG, ESCO2, TFAP2A, NSD2, NELFA, GDF5, RECQL4, SEMA3E, EIF4A3, KDM1A, SIN3A, WIPI2, APC, CHST11, BCOR, CHD7, SALL4, PALB2, EHMT1, ADAMTS10, LMNB2, UBE2T, ACAN, RPL5, FLNA, ATP6V1B2, BMPR1B, COL2A1, DHCR7, DHODH, FANCA, FANCC, FANCD2, FANCE, FBN1, HOXA13, IHH, LETM1, LRP4, LTBP2, MGP, PTCH1, RAD51C, BHLHA9, RASA1, CUP2Q35, RGS6
  • Hypotrichosis With Juvenile Macular Dystrophy Wikipedia
    Journal of Investigative Dermatology . 132 (10): 2332–41. doi : 10.1038/jid.2012.171 . PMID 22696062 . Nagel-Wolfrum, K; Möller, F; Penner, I; Wolfrum, U (2014). ... Gregory-Evans, C. Y.; Wang, X; Wasan, K. M.; Zhao, J; Metcalfe, A. L.; Gregory-Evans, K (2014). ... N.; Kanuga, N.; Wolfrum, U.; Nagel-Wolfrum, K.; Da Cruz, L.; Coffey, P. J.; Cheetham, M.
    CDH3
    • Hypotrichosis, Congenital, With Juvenile Macular Dystrophy OMIM
      A number sign (#) is used with this entry because of evidence that congenital hypotrichosis with juvenile macular dystrophy (HJMD) is caused by homozygous mutation in the CDH3 gene (114021), encoding P-cadherin, on chromosome 16q22. Clinical Features The association of juvenile macular dystrophy and congenital hypotrichosis was first described by Wagner (1935) in 2 sisters. Yasakura et al. (1967) also reported affected sibs. In a sporadic case presented by Kroll (1981), the parents were natives of the same village in Westphalia, Germany. Souied et al. (1995) reported a brother and sister with this complex (without any other manifestations of ectodermal dysplasia). Macular dystrophy in these sibs became evident after age 18. The parents of these patients were born in the same Portuguese village, suggesting autosomal recessive inheritance of the syndrome.
    • Hypotrichosis With Juvenile Macular Degeneration Orphanet
      Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Epidemiology Prevalence is unknown but approximately 50 patients have been described since the first characterization of the syndrome in 1935. Clinical description HJMD patients present with short and sparse scalp hair since birth or first months of life, with no subsequent growth during life. A decade later, during the first to third decades of life, visual acuity decreases because of progressive macular degeneration, leading in many cases to blindness between the second and fourth decades of life. HJMD is sometimes associated with limb anomalies, in which case it is termed Ectodermal dysplasia, Ectrodactyly, and Macular dystrophy (EEM; see this term).
  • Multisystemic Smooth Muscle Dysfunction Syndrome Wikipedia
    .; Davies, R.; Haan, E. A.; Holman, K. J.; Watson, K. C.; Sreetharan, D.; Cao, S. ... PMID 10532176 . ^ Milewicz, Dianna M.; Østergaard, John R.; Ala-Kokko, Leena M.; Khan, Nadia; Grange, Dorothy K.; Mendoza-Londono, Roberto; Bradley, Timothy J.; Olney, Ann Haskins; Adès, Lesley; Maher, Joseph F.; Guo, Dongchuan; Buja, L.
    ACTA2, COL5A2, STAMBPL1, ACTB
    • Multisystemic Smooth Muscle Dysfunction Syndrome OMIM
      A number sign (#) is used with this entry because of evidence that multisystemic smooth muscle dysfunction syndrome (MSMDS) is caused by heterozygous mutation in the ACTA2 gene (102620) on chromosome 10q23. See also familial thoracic aortic aneurysm (AAT6; 611788), which can also be caused by ACTA2 mutation. Clinical Features Milewicz et al. (2010) described 7 unrelated patients ranging in age from 11 to 27 years who had clinical findings suggestive of vascular disease, consistent with previous ACTA2 mutations. However, there was higher penetrance and earlier onset of vascular disease and additional multisystem smooth muscle dysfunction was manifest. Three of these patients had previously been described by Khan et al. (2004), Lemire et al. (2004), and Ades et al. (1999), respectively.
    • Multisystemic Smooth Muscle Dysfunction Syndrome Orphanet
      Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.
    • Multisystemic Smooth Muscle Dysfunction Syndrome GARD
      Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis ). A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals.
  • Polyphagia Wikipedia
    PMID 21499159 . ^ Masuzaki H, Tanaka T, Ebihara K, Hosoda K, Nakao K (2009). "Hypothalamic melanocortin signaling and leptin resistance--perspective of therapeutic application for obesity-diabetes syndrome" .
  • Quadricuspid Aortic Valve Wikipedia
    ., Passeri, J., Tighe, D., & Agnihotri, A. K. (2011). Quadricuspid aortic valve: a report of 12 cases and a review of the literature. ... G., Yang, H. S., Lee, D. H., Shin, J. K., Chee, H. K., & Kim, J. S. (2014).
    TNXB
    • Quadricuspid Aortic Valve Orphanet
      A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom.
  • Equine Multinodular Pulmonary Fibrosis Wikipedia
    . ^ a b c d Marenzoni ML, Passamonti F, Lepri E, Cercone M, Capomaccio S, Cappelli K, et al. (July 2011). "Quantification of Equid herpesvirus 5 DNA in clinical and necropsy specimens collected from a horse with equine multinodular pulmonary fibrosis" . ... PMID 21908328 . ^ a b c Back H, Kendall A, Grandón R, Ullman K, Treiberg-Berndtsson L, Ståhl K, Pringle J (September 2012).
  • Young–simpson Syndrome Wikipedia
    Young–Simpson syndrome Other names Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson syndrome This condition is inherited via autosomal dominant manner Young–Simpson syndrome ( YSS ) is a rare congenital disorder with symptoms including hypothyroidism , heart defects , facial dysmorphism , cryptorchidism in males, hypotonia , mental retardation and postnatal growth retardation . [1] [2] Other symptoms include transient hypothyroidism, macular degeneration and torticollis . [3] The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. [4] [5] An individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome , showing that it is quite difficult to diagnose the correct condition based on the symptoms present. [6] Some doctors therefore consider these syndromes to be the same. [7] The mode of inheritance has had mixed findings based on studies undertaken. [5] [8] One study showed that the parents of an individual with YSS are unrelated and phenotypically normal, indicating a sporadic mutation , thus making it difficult to base the cause of the condition on genetic makeup alone. [5] However, another study was done of an individual with YSS who had first cousins as parents, giving the possibility of autosomal recessive inheritance. [8] Contents 1 KAT6B 2 See also 3 References 4 External links KAT6B [ edit ] In 2011, it was demonstrated that de novo mutations in the gene KAT6B caused YSS. [9] See also [ edit ] Genitopatellar syndrome References [ edit ] ^ Masuno M, Imaizumi K, Okada T, et al. (May 1999). "Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation". ... PMID 10602125 . ^ Young ID, Simpson K (November 1987). "Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation" . ... PMID 8474111 . ^ Clayton-Smith, Jill; O'Sullivan James; Daly Sarah; Bhaskar Sanjeev; Day Ruth; Anderson Beverley; Voss Anne K; Thomas Tim; Biesecker Leslie G; Smith Philip; Fryer Alan; Chandler Kate E; Kerr Bronwyn; Tassabehji May; Lynch Sally-Ann; Krajewska-Walasek Malgorzata; McKee Shane; Smith Janine; Sweeney Elizabeth; Mansour Sahar; Mohammed Shehla; Donnai Dian; Black Graeme (November 2011).
    KAT6B, ALB
    • Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant MedlinePlus
      The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Males with the SBBYS variant of Ohdo syndrome typically have undescended testes (cryptorchidism). Females with this condition have normal genitalia. Missing or underdeveloped patellae is the most common skeletal abnormality associated with the SBBYS variant of Ohdo syndrome. Affected individuals also have joint stiffness involving the hips, knees, and ankles that can impair movement. Although joints in the lower body are stiff, joints in the arms and upper body may be unusually loose (lax).
    • Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type Orphanet
      A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Epidemiology Although the prevalence of the disorder is unknown, it is thought to be less than 1/1,000,000. To date, 122 individuals with molecularly diagnosed blepharophimosis-intellectual disability syndrome, SBBYS type (SBBYS), have been reported.
    • Ohdo Syndrome, Sbbys Variant OMIM
      A number sign (#) is used with this entry because the SBBYS variant of Ohdo syndrome is caused by heterozygous mutation in the KAT6B gene (605880) on chromosome 10q22. Description Say-Barber-Biesecker-Young-Simpson syndrome, a variant of Ohdo syndrome (249620), is characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common.
  • Uterine Clear-Cell Carcinoma Wikipedia
    PMID 18637491 . ^ a b c C A Hamilton; M K Cheung; K Osann; L Chen; N N Teng; T A Longacre; M A Powell; M R Hendrickson; D S Kapp & J K Chan (Mar 2006).
  • Testicular Atrophy Wikipedia
    ISSN 0309-0167 . PMID 3371900 . ^ Pinto, K. J.; Kroovand, R. L.; Jarow, J. P. ... PMID 2891525 . ^ Gray, T. J.; Butterworth, K. R. (1980). "Testicular atrophy produced by phthalate esters". ... PMID 6776936 . ^ Uraki, Ryuta; Hwang, Jesse; Jurado, Kellie Ann; Householder, Sarah; Yockey, Laura J.; Hastings, Andrew K.; Homer, Robert J.; Iwasaki, Akiko; Fikrig, Erol (2017-02-22).
    AR, ANOS1, HFE, TP53, SMS, POLG, HPRT1, TEX11, NHP2, FSHB, DMPK, BMP2, WFS1, E2F1, IRS2, PRDX4, AKR1A1, ACBD3, CHST3, NABP2, ALDH2, CCL4, INPP5B, IGF1, HMMR, HIP1, CYP19A1, CASP3, SPSB1
    • Microorchidism Wikipedia
      This article needs attention from an expert in Medicine . Please add a reason or a talk parameter to this template to explain the issue with the article. WikiProject Medicine may be able to help recruit an expert. ( July 2009 ) This article relies largely or entirely on a single source . Relevant discussion may be found on the talk page . Please help improve this article by introducing citations to additional sources. Find sources: "Microorchidism" – news · newspapers · books · scholar · JSTOR ( July 2009 ) Microorchidism is a genetic disorder found in males, characterized by abnormally small testes . The condition is associated with (and often secondary to) a number of other genetic disorders, including Klinefelter's Syndrome and Prader-Willi syndrome, as well as other multiple malformation disorders.
  • Pulmonary Sclerosing Pneumocytoma Wikipedia
    Respir Med 107(3):448-50. doi: 10.1016/j.rmed.2012.12.005 ^ Soo IX, Sittampalam K, Lim CH (2017) Pulmonary sclerosing pneumocytoma with mediastinal lymph node metastasis. ... Jpn J Clin Oncol 16(1):77-86 ^ Yamazaki K (2004) Type-II pneumocyte differentiation in pulmonary sclerosing hemangioma: ultrastructural differentiation and immunohistochemical distribution of lineage-specific transcription factors (TTF-1, HNF-3 alpha, and HNF-3 beta) and surfactant proteins. ... Cytojournal 13:9. doi: 10.4103/1742-6413.180783. ^ Hara K, Izumi N, Tsukioka T, Komatsu H, Okada S, Toda M, Ito R, Shibata T, Nishiyama N (2016) Multiple pulmonary sclerosing pneumocytoma with abnormal accumulation of fluorodeoxyglucose-positron emission tomography diagnosed by durgical treatment; Report of a case.
    NKX2-1, AKT1, AR, BRAF, SMUG1, TP53, CTNNB1, ARHGEF2, TTF1, TUBA1A, TP63, ACTB, RABEPK, STK11, EBNA1BP2, RASSF1, ARMH1, LANCL1, S100A1, SFTPB, S100B, PTEN, PSMD7, MAPK1, MMP9, RPSA, KRAS, IL9, ESR2, CEACAM5, CDKN2A, CD34, H3P28
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