KEGG   DISEASE: アルストレム症候群
エントリ  
H00417                                                             
名称    
アルストレム症候群
概要    
Alstrom syndrome (AS) is a rare autosomal recessive inherited disorder characterized by multiorgan dysfunction. AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. A wide range of clinical variability is observed among individuals with AS, including among sibs. ALMS1 is the only gene currently known to be associated with AS. However, it is not yet known how this gene causes the disorder.
カテゴリ  
先天奇形
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
   LD2Y  その他の明示された多発性の発達異常または症候群
    H00417  アルストレム症候群
病因遺伝子 
ALMS1 [HSA:7840] [KO:K16741]
リンク   
ICD-11: LD2Y
MeSH: D056769
OMIM: 203800
文献    
  著者
Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN
  タイトル
Alstrom syndrome (OMIM 203800): a case report and literature review.
  雑誌
Orphanet J Rare Dis 2:49 (2007)
DOI:10.1186/1750-1172-2-49
文献    
  著者
Marshall JD, Beck S, Maffei P, Naggert JK
  タイトル
Alstrom syndrome.
  雑誌
Eur J Hum Genet 15:1193-202 (2007)
DOI:10.1038/sj.ejhg.5201933
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