Hyperinsulinemic hypoglycemia, familial, 4

Preferred Label : Hyperinsulinemic hypoglycemia, familial, 4;

Symbol : HHF4;

CISMeF acronym : HHF4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the L-3-hydroxyacyl-CoA dehydrogenase gene (HADH, 601609.0003);

Laboratory abnormalities : Hypoglycemia; Hyperinsulinemia; Elevated blood spot hydroxybutyryl carnitine;

Prefixed ID : #609975;

Détails

Origin ID

609975;

UMLS CUI

C1864948;

Automatic exact mappings (from CISMeF team)
- familial hyperinsulinemic hypoglycemia 4 [DO Concept]
Broader ORDO disease(s)
- Congenital isolated hyperinsulinism [ORDO Disease]
Currated CISMeF NLP mapping
- hyperinsulinemic hypoglycemia, familial, 4 [MeSH concept]
- hyperinsulinemic hypoglycemia, familial, 4 [MeSH Supplementary Concept]
DO Cross reference
- familial hyperinsulinemic hypoglycemia 4 [DO Concept]
Genes related to phenotype
- 3-hydroxyacyl-coa dehydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [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 short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hyperinsulinemic hypoglycemia, familial, 4 [MeSH Supplementary Concept]
- hyperinsulinemic hypoglycemia, familial, 4 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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