KEGG   DISEASE: Usher syndrome
Entry
H00779                      Disease                                
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00779  Usher syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H00779  Usher syndrome
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]
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
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
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
Reference
  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
Reference
  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
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