Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Acanthosis nigricans | |
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In Alstrom syndrome besides of obesity and diabetes an acanthosis nigricans can be seen. |
| 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
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