DESCRIPTION:
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. Generated by gene2mesh v. 1.1.1
LABEL:
Alstrom Syndrome
SCORE TYPE:
Binary
DATE ADDED:
DATE UPDATED:
SPECIES:
| Uploaded As | Gene Symbol | Homology | Score | Priority | LinkOuts | Emphasis |
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