| H00779 | |
| H番号 | H00779 |
| 名称 | アッシャー症候群 |
| 概要 | Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity of hearing loss and the presence or absence of vestibular dysfunction. USH1 patients are congenitally profoundly deaf, and have vestibular dysfunction as well as prepubertal onset of progressive retinitis pigmentosa (RP). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. USH3 is characterized by a progressive hearing loss, a variable vestibular dysfunction, and RP. USH shows significant genetic heterogeneity, and at least 11 distinct loci have been identified and genes for 9 of them have been cloned. Recently, USH4 caused by mutations in ARSG has been reported. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (USH1B) MYO7A [HSA:4647] [KO:K10359] (USH1C) USH1C [HSA:10083] [KO:K21877] (USH1D/1DF) CDH23, USH1D [HSA:64072] [KO:K06813] (USH1F/1DF) PCDH15 [HSA:65217] [KO:K16500] (USH1G) USH1G [HSA:124590] [KO:K21878] (USH1J) CIB2 [HSA:10518] [KO:K23837] (USH1M) ESPN [HSA:83715] [KO:K24047] (USH2A) USH2A [HSA:7399] [KO:K19636] (USH2A/2C) PDZD7 [HSA:79955] [KO:K21882] (USH2B/2C) GPR98 [HSA:84059] [KO:K18263] (USH2D) WHRN [HSA:25861] [KO:K21879] (USH3A) CLRN1 [HSA:7401] [KO:K23841] (USH3B) HARS [HSA:3035] [KO:K01892] (USH4) ARSG [HSA:22901] [KO:K12381] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2H.4 ICD-10: H35.5 MeSH: D052245 OMIM: 276900 276904 601067 602083 606943 614869 276901 605472 611383 276902 614504 618632 618144 |
| 文献 | PMID:20379205 著者 Yan D, Liu XZ タイトル Genetics and pathological mechanisms of Usher syndrome. 雑誌 J Hum Genet 55:327-35 (2010) DOI:10.1038/jhg.2010.29 PMID:16374329 著者 Friedman TB, Schultz JM, Ahmed ZM タイトル Usher syndrome type 1: genotype-phenotype relationships. 雑誌 Retina 25:S40-S42 (2005) DOI:10.1097/00006982-200512001-00016 PMID:22009552 著者 Vache C, Besnard T, le Berre P, Garcia-Garcia G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF タイトル Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. 雑誌 Hum Mutat 33:104-8 (2012) DOI:10.1002/humu.21634 PMID:19423712 著者 Tian G, Zhou Y, Hajkova D, Miyagi M, Dinculescu A, Hauswirth WW, Palczewski K, Geng R, Alagramam KN, Isosomppi J, Sankila EM, Flannery JG, Imanishi Y タイトル Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton. 雑誌 J Biol Chem 284:18980-93 (2009) DOI:10.1074/jbc.M109.003160 PMID:23023331 著者 Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM タイトル Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 雑誌 Nat Genet 44:1265-71 (2012) DOI:10.1038/ng.2426 PMID:22279524 (USH3B) 著者 Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA タイトル Genetic mapping and exome sequencing identify variants associated with five novel diseases. 雑誌 PLoS One 7:e28936 (2012) DOI:10.1371/journal.pone.0028936 PMID:29572253 著者 Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin S, Riazuddin S タイトル Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. 雑誌 J Med Genet 55:479-488 (2018) DOI:10.1136/jmedgenet-2017-105221 PMID:32455177 著者 Abad-Morales V, Navarro R, Bures-Jelstrup A, Pomares E タイトル Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4. 雑誌 Am J Ophthalmol Case Rep 19:100736 (2020) DOI:10.1016/j.ajoc.2020.100736 |