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