Hyperinsulinemic hypoglycemia, familial, 3

Preferred Label : Hyperinsulinemic hypoglycemia, familial, 3;

Symbol : HHF3;

CISMeF acronym : HHF3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glucokinase gene (GCK, 138079.0009);

Laboratory abnormalities : Hypoglycemia, nonketotic; Hyperinsulinemia;

Prefixed ID : #602485;

Details

Origin ID

602485;

UMLS CUI

C1865290;

Broader ORDO disease(s)
- Congenital isolated hyperinsulinism [ORDO Disease]
Currated CISMeF NLP mapping
- Hyperinsulinemic hypoglycemia, familial, 3 [MeSH concept]
- Hyperinsulinism due to deficiency of glucokinase (disorder) [SNOMED CT concept]
- Hyperinsulinism due to glucokinase deficiency [ORDO Disease]
- familial hyperinsulinemic hypoglycemia 3 [DO Concept]
- hyperinsulinemic hypoglycemia, familial, 3 [MeSH Supplementary Concept]
DO Cross reference
- familial hyperinsulinemic hypoglycemia 3 [DO Concept]
Genes related to phenotype
- Glucokinase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Diabetes mellitus [HPO term]
- Heterogeneous [HPO term]
- Hyperinsulinemic hypoglycemia [HPO term]
- Hypoglycemic coma [HPO term]
- Hypoglycemic seizures [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Hyperinsulinism due to glucokinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperinsulinemic hypoglycemia, familial, 3 [MeSH concept]
- hyperinsulinemic hypoglycemia, familial, 3 [MeSH Supplementary Concept]

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