iDrugBank

Alstrom Syndrome

MESHD056769

Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

Synonyms

  • Syndrome, Alstrom
  • Alström Syndrome
  • Syndrome, Alström
  • Alstrom-Hallgren Syndrome
  • Alstrom Hallgren Syndrome
  • Syndrome, Alstrom-Hallgren
  • Alstrom's Syndrome
  • Alstroms Syndrome
  • Syndrome, Alstrom's

Source last updated 2026-05-24T15:24:38.588Z