NIH MeSH · D056769Diseases

Alstrom Syndrome

Also known asSyndrome, Alstrom · Alström Syndrome · Syndrome, Alström · Alstrom-Hallgren Syndrome · Alstrom Hallgren Syndrome · Syndrome, Alstrom-Hallgren · Alstrom's Syndrome · Alstroms Syndrome · Syndrome, Alstrom's

Definition

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.

MeSH classification

  • C10.500.300.099
  • C10.574.500.495.099
  • C10.668.829.800.300.099
  • C11.270.684.249
  • C16.131.077.245.063
  • C16.131.666.300.099
  • C16.320.184.063
  • C16.320.290.684.249
  • C16.320.400.375.099

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Source: NIH MeSH 2026 (D056769) — National Library of Medicine, public domain. View official MeSH record ↗