NLM Logo

Alstrom Syndrome MeSH Descriptor Data 2021


MeSH Heading
Alstrom Syndrome
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
Unique ID
D056769
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056769
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.
Entry Term(s)
Alstrom's Syndrome
Alstrom-Hallgren Syndrome
Alström Syndrome
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2016/05/31
Alstrom Syndrome Preferred
page delivered in 0.154s