Alstrom syndrome

Alstrom syndrome (ALMS) is a recessive disorder disease.

Synopsis

 short stature
 truncal obesity (onset in childhood)
 hearing loss, progressive sensorineural
 otitis media
 cone-rod dystrophy
 photophobia (infancy)
 nystagmus (infancy)
 blindness
 subcapsular cataracts
 dilated cardiomyopathy (infancy)
 congestive heart failure
 atherosclerosis
 hypertension
 asthma
 gynecomastia
 hepatitis, chronic active
 nephritis, chronic
 renal failure
 advanced bone age
 hyperostosis frontalis interna
 spine
 kyphosis
 scoliosis
 no polydactyly
 acanthosis nigricans
 alopecia
 developmental delay
 menstrual irregularities
 insulin resistant diabetes
 hypergonadotropic hypogonadism (males)
 diabetes insipidus
 hypothyroidism
 growth hormone deficiency

LABORATORY ABNORMALITIES

 Hyperinsulinemia
 Hyperuricemia
 Hypertriglyceridemia
 Low HDL-cholesterol
 Normal total cholesterol
 Elevated serum transaminases

Etiology

 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.