- Concept UI
- M0529107
- Scope Note
- 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.
- Terms
-
Alstrom Syndrome
Preferred Term
Term UI
T734364
Date02/02/2009
LexicalTag
EPO
ThesaurusID
-
Alström Syndrome
Term UI
T840881
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Alstrom-Hallgren Syndrome
Term UI
T840882
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Alstrom's Syndrome
Term UI
T734367
Date02/02/2009
LexicalTag
EPO
ThesaurusID