Home > D. Systemic pathology > Genetic and developmental anomalies > Alstrom syndrome

Alstrom syndrome

MIM.203800 2p13

Saturday 21 January 2006

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.