KEGG   DISEASE: SeSAME/EAST 症候群
エントリ  
H00803                                                             
名称    
SeSAME/EAST 症候群
概要    
Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) is a channelopathy characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. This disease links to autosomal recessive mutations in KCNJ10, which encodes the potassium channel.
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
    H00803  SeSAME/EAST 症候群
病因遺伝子 
KCNJ10 [HSA:3766] [KO:K05003]
リンク   
ICD-11: LD2H.Y
MeSH: C557674
OMIM: 612780
文献    
  著者
Williams DM, Lopes CM, Rosenhouse-Dantsker A, Connelly HL, Matavel A, O-Uchi J, McBeath E, Gray DA
  タイトル
Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
  雑誌
J Am Soc Nephrol 21:2117-29 (2010)
DOI:10.1681/ASN.2009121227
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