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Alstrom Syndrome

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.

Year introduced: 2010

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Subheadings:

Tree Number(s): 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

MeSH Unique ID: D056769

Entry Terms:

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

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