familial hyperproinsulinaemia

(redirected from FHPRI)

familial hyperproinsulinaemia

An autosomal dominant (OMIM:176730) condition characterised by a defect in cleaving proinsulin at the B-chain C-peptide site, which may or may not cause clinical diabetes.

Molecular pathology
Defects in INS, which encodes preproinsulin, cause familial hyperproinsulinaemia.