Alstrom syndrome

Definition:

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.

References:

[1]. Jan D Marshall, et al. Alström syndrome. Eur J Hum Genet. 2007 Dec;15(12):1193-202. [Content Brief]

[2]. Tisha Joy, et al. Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis. 2007 Dec 21;2:49. [Content Brief]

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