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Hyperinsulinism due to INSR deficiency

Orpha number ORPHA263458
Synonym(s) Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Variable
ICD-10
  • E16.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.


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Detailed information

Review article
  • EN (2011)
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