familial hyperproinsulinaemia
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.