Sällsynt autonom recessiv sjukdom karakteriserad av flerorgansvikt. Kliniska kännetecken inkluderar näthinneförtvining, patologisk nystagmus, retinitis pigmentosa och eventuell blindhet, barnfetma, sensorisk hörselnedsättning och normal psykisk utveckling. De endokrinologiska komplikationerna inkluderar typ 2-diabetes, hyperinsulinemi, acanthosis nigricans, hypotyreos, progressiv njursvikt och leversvikt. Sjukdomen orsakas av ALMS1-genmutation.
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.
Alström-Hallgrens syndrom
Syndrome, Alstrom — Alström Syndrome — Syndrome, Alström — Alstrom-Hallgren Syndrome — Alstrom Hallgren Syndrome — Syndrome, Alstrom-Hallgren — Alstrom's Syndrome — Alstroms Syndrome — Syndrome, Alstrom's