HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HHF2

Question 1

What is  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HHF2?

Accepted Answer

rare

autosomal recessvie

KCNJ11

11 known monogenic forms of hyperinsulinism and several associated syndromes [Vajravelu 2018]

- KATP Hyperinsulinism (ABCC8 or KCNJ11)
- GDH Hyperinsulinism (GLUD1)
- HNF4A and HNF1A Hyperinsulinism (HNF4A, HNF1A)
- GCK Hyperinsulinism (GCK)
- UCP2 Hyperinsulinism (UCP2)
- MCT1 Hyperinsulinism (SLC16A1)
- FOXA2 Hyperinsulinism (FOXA2)
- Beckwith-Wiedemann Syndrome (BWS)
- Kabuki Syndrome (KS)
- Turner Syndrome
- Congenital disorders of glycosylation and related mutations

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperinsulinismus durch Kir6.2-Mangel, autosomal-dominanter; HHF2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 601820

Question 4

Which enzymes are involved?

Accepted Answer

ATP-sensitive inward rectifier potassium channel 11

Disease	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HHF2
Synonym	HHF2; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHHI; NESIDIOBLASTOSIS
OMIM	601820 OMIM = Online Mendelian Inheritance of Men
Orphanet	276580
Protein (UniProt)	ATP-sensitive inward rectifier potassium channel 11
Gene locus	11p15.1
ICD	E16.1
Summary	rare autosomal recessvie KCNJ11 11 known monogenic forms of hyperinsulinism and several associated syndromes [Vajravelu 2018] - KATP Hyperinsulinism (ABCC8 or KCNJ11) - GDH Hyperinsulinism (GLUD1) - HNF4A and HNF1A Hyperinsulinism (HNF4A, HNF1A) - GCK Hyperinsulinism (GCK) - UCP2 Hyperinsulinism (UCP2) - MCT1 Hyperinsulinism (SLC16A1) - FOXA2 Hyperinsulinism (FOXA2) - Beckwith-Wiedemann Syndrome (BWS) - Kabuki Syndrome (KS) - Turner Syndrome - Congenital disorders of glycosylation and related mutations
Laboratory findings	17-Hydroxyketosteroids [+] dec (blood) D-Glucose dec (plasma) Free fatty acids dec (serum) Ketone bodies (urine) dec (urine)
Symptoms	hyperinsulinism hypoglycemia hypoketotic hypoglycemia seizures high birthweight (large for gestational age) macrosomia onset, infancy onset, neonatal