Hyperinsulinism due to INSR deficiency
MONDO:0012381Hyperinsulinemic 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.
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
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