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.
Also Known As:
Alstrom-Hallgren Syndrome; Alström Syndrome; Alstrom Hallgren Syndrome; Alstroms Syndrome; Syndrome, Alstrom; Syndrome, Alstrom's; Syndrome, Alstrom-Hallgren; Syndrome, Alström; Alstrom's Syndrome