Hypoglycemia, leucine-induced

Preferred Label : Hypoglycemia, leucine-induced;

Symbol : LIH;

CISMeF acronym : LIH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leucine-sensitive hypoglycemia of infancy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily C, member 8 gene (ABCC8, 600509.0012);

Laboratory abnormalities : Intermittent severe hypoglycemia (in some patients);

Prefixed ID : #240800;

Détails

Origin ID

240800;

UMLS CUI

C0271714;

Automatic exact mappings (from CISMeF team)
- weil disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hypoglycemia, leucine-induced [MeSH concept]
- Leucine-induced hypoglycemia (disorder) [SNOMED CT concept]
- hypoglycemia, leucine-induced [MeSH Supplementary Concept]
- leucine-induced hypoglycemia [SNOMED Notion]
Genes related to phenotype
- Atp-binding cassette, subfamily C, member 8 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coma [HPO term]
- Drowsiness [HPO term]
- Hyperinsulinemic hypoglycemia [HPO term]
- Hyperreflexia [HPO term]
- Hypoglycemia [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoglycemia, leucine-induced [MeSH concept]
- Leucine-induced hypoglycemia (disorder) [SNOMED CT concept]
- hypoglycemia, leucine-induced [MeSH Supplementary Concept]
- leucine-induced hypoglycemia [SNOMED Notion]

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

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