KEGG   DISEASE: Deafness, Y-linked
Entry
H02336                      Disease                                
Name
Deafness, Y-linked
Description
Hearing loss is the most common sensory disorder in humans. Hereditary hearing loss (HHL) contributes to more than 60% of deafness cases, with autosomal dominant, recessive, and X-linked forms. Although Y-linked deafness is unusual and extremely rare, missense mutations in the TBL1Y gene has been found in families affected by HHL.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 10 Diseases of the ear or mastoid process
  Disorders with hearing impairment
   AB50  Congenital hearing impairment
    H02336  Deafness, Y-linked
Pathway
hsa04310  Wnt signaling pathway
Gene
(DFNY2) TBL1Y [HSA:90665] [KO:K04508]
Other DBs
ICD-11: AB50
MeSH: D006319
OMIM: 400043 400047
Reference
  Authors
Di Stazio M, Collesi C, Vozzi D, Liu W, Myers M, Morgan A, D Adamo PA, Girotto G, Rubinato E, Giacca M, Gasparini P
  Title
TBL1Y: a new gene involved in syndromic hearing loss.
  Journal
Eur J Hum Genet 27:466-474 (2019)
DOI:10.1038/s41431-018-0282-4
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