Saturday 21 January 2006
Alstrom syndrome (ALMS) is a recessive disorder disease.
truncal obesity (onset in childhood)
hearing loss, progressive sensorineural
dilated cardiomyopathy (infancy)
congestive heart failure
hepatitis, chronic active
advanced bone age
hyperostosis frontalis interna
insulin resistant diabetes
hypergonadotropic hypogonadism (males)
growth hormone deficiency
Normal total cholesterol
Elevated serum transaminases
germline mutation in the ALMS1 gene (MIM.606844)
- The single underlying gene, Alstrom syndrome 1 (ALMS1), encodes a novel protein that contains coiled-coil domains, and a putative nuclear localization signal, as well as serine-rich and histidine-rich regions.
- ALMS1 forms a part of the centrosome which together with the data on BBS proteins, confirms the role of centrosomal proteins in the forms of CDK that are associated with diabetes, obesity and retinitis pigmentosa.