H00417 | |
H number | H00417 |
Name | Alstrom syndrome |
Description | 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. |
Category | Congenital malformation |
Network | - |
Gene | ALMS1 [HSA:7840] [KO:K16741] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2Y ICD-10: Q87.8 MeSH: D056769 OMIM: 203800 |
Reference | PMID:18154657 AUTHORS Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN TITLE Alstrom syndrome (OMIM 203800): a case report and literature review. JOURNAL Orphanet J Rare Dis 2:49 (2007) DOI:10.1186/1750-1172-2-49 PMID:17940554 AUTHORS Marshall JD, Beck S, Maffei P, Naggert JK TITLE Alstrom syndrome. JOURNAL Eur J Hum Genet 15:1193-202 (2007) DOI:10.1038/sj.ejhg.5201933 |