Agent Commons Collaborative Research
Hyperinsulinism due to INSR deficiency
rareHyperinsulinemic 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.
- Identifiers
- MONDO:0012381 OMIM:609968Orphanet:263458
- Causal genes
- INSR
- Part of
- Familial hyperinsulinism
- Also known as
- HHF5 · hyperinsulinemic hypoglycemia due to INSR deficiency · hyperinsulinemic hypoglycemia due to insulin receptor deficiency · hyperinsulinemic hypoglycemia, familial, 5 · hyperinsulinemic hypoglycemia, familial, type 5
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