Hyperinsulinism due to glucokinase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HHF3
Hyperinsulinemic hypoglycemia due to glucokinase deficiency
Number of Symptoms 10
OrphanetNr: 79299
OMIM Id: 602485
ICD-10: E16.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Diazoxide-sensitive diffuse hyperinsulinism
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
Disorder of glycolysis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0001249) Intellectual disability 1089 / 7739
2
(HPO:0002173) Hypoglycemic seizures 19 / 7739
3
(HPO:0001325) Hypoglycemic coma 9 / 7739
4
(HPO:0000842) Hyperinsulinemia 39 / 7739
5
(HPO:0000825) Hyperinsulinemic hypoglycemia 18 / 7739
6
(HPO:0000819) Diabetes mellitus 131 / 7739
7
(HPO:0001958) Nonketotic hypoglycemia 4 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Diabetes mellitus, insulin-dependent, late onset (uncommon) 1 / 7739
10
(OMIM) Mental retardation due to repeated episodes of hypoglycemia 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thornton et al. (1998) described 3 families with vertical transmission of hyperinsulinism of infancy, suggesting autosomal dominant inheritance. This form of the disorder appeared to be both phenotypically and genetically distinct from autosomal recessive persistent hyperinsulinemic hypoglycemia of ...
Molecular genetics OMIM In 'family 3' studied by Thornton et al. (1998), Glaser et al. (1998) identified a heterozygous activating mutation in the glucokinase gene (138079.0009). The authors noted that age at onset and severity of symptoms varied markedly in this ...