ORPHA:79299

Congenital glucokinase-related hyperinsulinism

Synonyms: Glucokinase-related hyperinsulinemic hypoglycemia

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
Status: active

A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital glucokinase-related hyperinsulinism	Glucokinase-related hyperinsulinemic hypoglycemia
fr	Hyperinsulinisme congénital lié à la glucokinase	Hypoglycémie hyperinsulinémique liée à la glucokinase
de	Hyperinsulinismus, kongenitaler, durch Glukokinase-Mangel	Hypoglykämie, hyperinsulinämische, Glukokinase-assoziierte
es	Hiperinsulinismo congénito por deficiencia de glucoquinasa	Hipoglucemia hiperinsulinémica por deficiencia de glucoquinasa
it	Iperinsulinismo congenito correlato alla glucochinasi	Ipoglicemia iperinsulinemica correlata alla glucochinasi
nl	Congenitaal hyperinsulinisme gerelateerd aan glucokinase	Hyperinsulinemische hypoglycemie gerelateerd aan glucokinase
pt	Hiperinsulinismo por deficiência de glucocinase
pl	Wrodzony hiperinsulinizm związany z glukokinazą	Hipoglikemia hiperinsulinemiczna z powodu niedoboru glukokinazy
cs	Hyperinzulinismus způsobený deficitem glukokinázy	Hyperinzulinemická hypoglykémie způsobená deficitem glukokinázy
uk	Вроджений глюкокіназо-залежний гіперінсулінізм	Глюкокіназозалежна гіперінсулінемічна гіпоглікемія
zh	葡糖激酶缺乏所致高胰岛素血症	葡萄糖激酶缺乏所致高胰岛素血症性低血糖
tr	Glukokinaz eksikliğine bağlı hiperinsülinizm	Glukokinaz eksikliğine bağlı hiperinsülinemik hipoglisemi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	602485	E		validated
ICD-10	E16.1	NTBT	attributed	validated
ICD-11	5A45	NTBT	attributed	validated
MONDO	0011236	E		validated
MONDO	11236	E		validated
UMLS	C4274019	E		validated
GARD	2818	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (2):

ORPHA:165985Diazoxide-sensitive diffuse hyperinsulinism
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
ORPHA:308459Disorder of glycolysis
rare inborn errors of metabolism; rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GCK	Disease-causing germline mutation(s) in	Assessed	HGNC:4195	ENSG00000106633	138079	7p13	glucokinase	9435328[PMID]_25733449[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

13 annotations · validated 2017-05-12

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0030794	Abnormal C-peptide level
HP:0008283	Fasting hyperinsulinemia
HP:0000825	Hyperinsulinemic hypoglycemia
HP:0001985	Hypoketotic hypoglycemia
HP:0001988	Recurrent hypoglycemia
Frequent (79-30%)
HP:0012378	Fatigue
HP:0002378	Hand tremor
HP:0001324	Muscle weakness
HP:0001250	Seizure
Occasional (29-5%)
HP:0001259	Coma
HP:0005978	Type II diabetes mellitus
Very rare (<4-1%)
HP:0012638	Abnormality of nervous system physiology
HP:0002270	Abnormality of the autonomic nervous system

Run the differential on the 5 obligate / very frequent terms

Annotation source: 9435328[PMID]_17003566[PMID]_21967988[PMID]_15133749[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/79299
This record as JSON: /data/d/79299.json