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Rabson-Mendenhall syndrome (Mendenhall syndrome)
Genetics:
- autosomal recessive
- associated with defects in the insulin receptor (INSR)
Clinical manifestations:
- severe insulin resistance syndrome
- insulin-resistant diabetes mellitus
- pineal hyperplasia
- somatic abnormalities
- typical features include
a) coarse, senile-appearing facies
b) dental & skin abnormalities
c) abdominal distension
d) phallic enlargement
Laboratory:
- serum glucose (high)
- serum insulin (high)
General
diabetes mellitus type 2 (insulin-resistant)
genetic syndrome (multisystem disorder)
genetic disease of the endocrine system
Database Correlations
OMIM 262190
References
UniProt :accession P06213