| H00417 | |
| H番号 | 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 |
| ネットワーク | - |
| 病因遺伝子 | ALMS1 [HSA:7840] [KO:K16741] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2Y ICD-10: Q87.8 MeSH: D056769 OMIM: 203800 |
| 文献 | PMID:18154657 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 PMID:17940554 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 |