A very rare autosomal dominant form of familial hyperinsulinism characterised clinically in the single reported family by postprandial hypoglycaemia, fasting hyperinsulinaemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3324729016
Hyperinsulinism due to insulin receptor deficiency
Active
Synonym
false
false
3324732018
Hyperinsulinism due to INSR (insulin receptor) deficiency