KEGG   DISEASE: 遺伝性難聴 (Y連鎖)
エントリ  
H02336                                                             
名称    
遺伝性難聴 (Y連鎖)
概要    
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.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 10 耳・乳様突起の疾患
  聴覚障害
   AB50  先天性聴覚障害
    H02336  遺伝性難聴 (Y連鎖)
パスウェイ 
hsa04310  Wnt signaling pathway
病因遺伝子 
(DFNY2) TBL1Y [HSA:90665] [KO:K04508]
リンク   
ICD-11: AB50
MeSH: D006319
OMIM: 400043 400047
文献    
  著者
Di Stazio M, Collesi C, Vozzi D, Liu W, Myers M, Morgan A, D Adamo PA, Girotto G, Rubinato E, Giacca M, Gasparini P
  タイトル
TBL1Y: a new gene involved in syndromic hearing loss.
  雑誌
Eur J Hum Genet 27:466-474 (2019)
DOI:10.1038/s41431-018-0282-4
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