Klinik: 

Definition: Das Alström-Syndrom ist eine autosomal rezessive Erkrankung mit Fettsucht, Typ 2 Diabetes, Retinitis pigmentosa, Innenohrschwerhörigkeit und einer langsam progredienten chronischen tubulointerstitiellen Nephritis.

Literatur: 

Collin GB et al. (1997) Homozygosity mapping at Alström syndrome to chromosome 2p.
Marshall JD et al. (1997) Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.
Collin GB et al. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
Hearn T et al. (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.
Minton JA et al. (2006) Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.
Li G et al. (2007) A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence.
Marshall JD et al. (2005) New Alström syndrome phenotypes based on the evaluation of 182 cases.
Alström-Syndrom Selbsthilfegruppe