| H00779 | |
| H number | H00779 |
| Name | Usher syndrome |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2H.4 ICD-10: H35.5 MeSH: D052245 OMIM: 276900 276904 601067 602083 606943 614869 276901 605472 611383 276902 614504 618632 618144 |
| Reference | PMID:20379205 AUTHORS Yan D, Liu XZ TITLE Genetics and pathological mechanisms of Usher syndrome. JOURNAL J Hum Genet 55:327-35 (2010) DOI:10.1038/jhg.2010.29 PMID:16374329 AUTHORS Friedman TB, Schultz JM, Ahmed ZM TITLE Usher syndrome type 1: genotype-phenotype relationships. JOURNAL Retina 25:S40-S42 (2005) DOI:10.1097/00006982-200512001-00016 PMID:22009552 AUTHORS 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 TITLE Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. JOURNAL Hum Mutat 33:104-8 (2012) DOI:10.1002/humu.21634 PMID:19423712 AUTHORS 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 TITLE Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton. JOURNAL J Biol Chem 284:18980-93 (2009) DOI:10.1074/jbc.M109.003160 PMID:23023331 AUTHORS 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 TITLE Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. JOURNAL Nat Genet 44:1265-71 (2012) DOI:10.1038/ng.2426 PMID:22279524 (USH3B) AUTHORS 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 TITLE Genetic mapping and exome sequencing identify variants associated with five novel diseases. JOURNAL PLoS One 7:e28936 (2012) DOI:10.1371/journal.pone.0028936 PMID:29572253 AUTHORS Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin S, Riazuddin S TITLE Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. JOURNAL J Med Genet 55:479-488 (2018) DOI:10.1136/jmedgenet-2017-105221 PMID:32455177 AUTHORS Abad-Morales V, Navarro R, Bures-Jelstrup A, Pomares E TITLE Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4. JOURNAL Am J Ophthalmol Case Rep 19:100736 (2020) DOI:10.1016/j.ajoc.2020.100736 |