Hyperinsulinemic hypoglycemia, familial, 5

Preferred Label : Hyperinsulinemic hypoglycemia, familial, 5;

Symbol : HHF5;

CISMeF acronym : HHF5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the insulin receptor gene (INSR, 147670.0037);

Laboratory abnormalities : Hypoglycemia, postprandial; Hyperinsulinemia, fasting; Elevated serum insulin-to-C-peptide ratio;

Prefixed ID : #609968;

Details

Origin ID

609968;

UMLS CUI

C1864952;

Automatic exact mappings (from CISMeF team)
- INSR wt Allele [NCIt concept]
- familial hyperinsulinemic hypoglycemia 5 [DO Concept]
Broader ORDO disease(s)
- Congenital isolated hyperinsulinism [ORDO Disease]
Currated CISMeF NLP mapping
- hyperinsulinemic hypoglycemia, familial, 5 [MeSH concept]
- hyperinsulinemic hypoglycemia, familial, 5 [MeSH Supplementary Concept]
DO Cross reference
- familial hyperinsulinemic hypoglycemia 5 [DO Concept]
Genes related to phenotype
- Insulin receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Fasting hyperinsulinemia [HPO term]
- Heterogeneous [HPO term]
- Hyperinsulinemic hypoglycemia [HPO term]
- Hypoglycemic coma [HPO term]
- Hypoglycemic seizures [HPO term]
ORDO concept(s)
- Hyperinsulinism due to INSR deficiency [ORDO Disease]
See also inter- (CISMeF)
- Hyperinsulinism due to INSR deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hyperinsulinemic hypoglycemia, familial, 5 [MeSH Supplementary Concept]
- hyperinsulinemic hypoglycemia, familial, 5 [MeSH concept]

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