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hyperinsulinism due to INSR deficiency

MONDO:0012381

Also known as: hyperinsulinemic hypoglycemia due to INSR deficiency, hyperinsulinemic hypoglycemia due to insulin receptor deficiency, hyperinsulinemic hypoglycemia, familial, type 5, HHF5, hyperinsulinemic hypoglycemia, familial, 5

MONDO:
MONDO:0012381
Orphanet:
263458
Rare disease34 associated genes

Description

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.

Associated genes

+24 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.