- Concept UI
- M0528900
- Scope Note
- Rare autosomal recessive syndrome, characterized by a milder set of clinical features with prolonged survival, compared to Donohue syndrome. Mutations in the same INSULIN RECEPTOR, mostly in the non-binding domain, result in Rabson-Mendenhall syndrome (allelic heterogeneity). Clinical features include insulin-resistant DIABETES MELLITUS, often with ACANTHOSIS NIGRICANS; DIABETIC KETOACIDOSIS; HYPERTRICHOSIS; and dysmorphisms.
- Terms
-
Rabson-Mendenhall Syndrome
Preferred Term
Term UI
T734000
Date01/27/2009
LexicalTag
EPO
ThesaurusID
-
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Term UI
T812274
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Mendenhall Syndrome
Term UI
T734002
Date01/27/2009
LexicalTag
EPO
ThesaurusID