KEGG   DISEASE: 難聴および近視
エントリ  
H02355                                                             
名称    
難聴および近視
概要    
Deafness and myopia (DFNMYP) is severe congenital myopia and sensorineural hearing loss in the absence of other systemic, ocular, or connective tissue manifestations. DFNMYP is caused by mutations in SLITRK6. SLITRK family proteins control neurite outgrowth and regulate synaptic development.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2H  症候群性遺伝性難聴
    H02355  難聴および近視
病因遺伝子 
SLITRK6 [HSA:84189] [KO:K25837]
リンク   
ICD-11: LD2H.Y
MeSH: D054062
OMIM: 221200
文献    
  著者
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH
  タイトル
SLITRK6 mutations cause myopia and deafness in humans and mice.
  雑誌
J Clin Invest 123:2094-102 (2013)
DOI:10.1172/JCI65853
文献    
  著者
Matsumoto Y, Katayama K, Okamoto T, Yamada K, Takashima N, Nagao S, Aruga J
  タイトル
Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice.
  雑誌
PLoS One 6:e16497 (2011)
DOI:10.1371/journal.pone.0016497
LinkDB    

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