Alstrom syndrome is an autosomal recessive disease characterized by obesity, type 2 diabetes, retinitis pigmentosa, sensorineural deafness and a slowly progressive chronic tubulointerstitial kidney disease.
In Alstrom syndrome besides of obesity and diabetes an acanthosis nigricans can be seen.
|Interstitial kidney disease|
|Autosomal dominant tubulointerstitial kidney disease (ADTKD)|
|Karyomegalic interstitial nephritis|
|Medullary cystic disease complex|
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.[^]
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.[^]
Marshall JD et al. (2005) New Alström syndrome phenotypes based on the evaluation of 182 cases.[^]
Orphanet articleOrphanet ID 64 [^]