FAMILIAL HYPERINSULINEMIA AND HYPERPROINSULINEAMIA WITH MILD DIABETES

Q: What is FAMILIAL HYPERINSULINEMIA AND HYPERPROINSULINEAMIA WITH MILD DIABETES?

rare autosomal dominant MIM 125852 - IDDM2 MIM 616214 - H yperproinsulinemia MIM 606176 - Permanent neonatal diabetes mellitus MIM 613370 - MODY10 Syndrome of mild diabetes or glucose intolerance due to an altered defective insuline also observed in 1 case of MODY

Question 1

What is  FAMILIAL HYPERINSULINEMIA AND HYPERPROINSULINEAMIA WITH MILD DIABETES?

Accepted Answer

rare
autosomal dominant
MIM 125852 - IDDM2
MIM 616214 - Hyperproinsulinemia
MIM 606176 - Permanent neonatal diabetes mellitus
MIM 613370 - MODY10
Syndrome of mild diabetes or glucose intolerance due to an altered defective insuline also observed in 1 case of MODY

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperinsulinismus, Hyperinsulinämie, familiär

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 176730

Question 4

Which enzymes are involved?

Accepted Answer

Insulin

Disease	FAMILIAL HYPERINSULINEMIA AND HYPERPROINSULINEAMIA WITH MILD DIABETES
OMIM	176730 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Insulin
Gene locus	11p15.5 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Insulin
ICD
Summary	rare autosomal dominant MIM 125852 - IDDM2 MIM 616214 - Hyperproinsulinemia MIM 606176 - Permanent neonatal diabetes mellitus MIM 613370 - MODY10 Syndrome of mild diabetes or glucose intolerance due to an altered defective insuline also observed in 1 case of MODY
Laboratory findings	C-peptide inc (plasma) D-Glucose normal/dec (serum) Insulin inc (plasma)
Symptoms	Glucose tolerance, impaired hyperinsulinism hypoglycemia onset, childhood onset, infancy onset, neonatal