Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Alström syndrome

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.

Symptoms

Acanthosis nigricans
In Alstrom syndrome besides of obesity and diabetes an acanthosis nigricans can be seen.

Systematic

Interstitial kidney disease
Alström syndrome
ALMS1
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
Bardet-Biedl syndrome
Hyperuricemic nephropathy
Karyomegalic interstitial nephritis
Medullary cystic disease complex

References:

1.

Collin GB et al. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

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2.

Hearn T et al. (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

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3.

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.

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4.

Li G et al. (2007) A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence.

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5.

Collin GB et al. (1997) Homozygosity mapping at Alström syndrome to chromosome 2p.

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6.

Marshall JD et al. (1997) Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.

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7.

Marshall JD et al. (2005) New Alström syndrome phenotypes based on the evaluation of 182 cases.

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8.

Orphanet article

Orphanet ID 64 [^]
Update: April 29, 2019