Hyperinsulinemic hypoglycemia, familial, 6

Preferred Label : Hyperinsulinemic hypoglycemia, familial, 6;

Symbol : HHF6;

CISMeF acronym : HHF6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperinsulinism-hyperammonemia syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the glutamate dehydrogenase gene (GLUD1, 138130.0001);

Laboratory abnormalities : Hypoglycemia; Hyperinsulinemia; Hyperammonemia, asymptomatic (2-5 times normal);

Prefixed ID : #606762;

Détails

Origin ID

606762;

UMLS CUI

C1847555;

Automatic exact mappings (from CISMeF team)
- hyperinsulinism-hyperammonemia syndrome [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Glutamate Dehydrogenase 1 Hyperinsulinism [NCIt concept]
- Hyperinsulinemic hypoglycemia, familial, 6 [MeSH concept]
- Hyperinsulinism and hyperammonemia syndrome (disorder) [SNOMED CT concept]
- Hyperinsulinism-hyperammonaemia syndrome [ICD-11 More detail]
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- Hyperinsulinism/hyperammonaemia syndrome [MedDRA LLT]
- Hyperinsulinism/hyperammonemia syndrome [MedDRA LLT]
- familial hyperinsulinemic hypoglycemia 6 [DO Concept]
- hyperinsulinemic hypoglycemia, familial, 6 [MeSH Supplementary Concept]
DO Cross reference
- familial hyperinsulinemic hypoglycemia 6 [DO Concept]
Genes related to phenotype
- Glutamate dehydrogenase 1 [OMIM gene]
HPO term(s)
- Asymptomatic hyperammonemia [HPO term]
- Autosomal dominant 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-hyperammonemia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutamate Dehydrogenase 1 Hyperinsulinism [NCIt concept]
- Hyperinsulinemic hypoglycemia, familial, 6 [MeSH concept]
- Hyperinsulinism and hyperammonemia syndrome (disorder) [SNOMED CT concept]
- Hyperinsulinism-hyperammonaemia syndrome [ICD-11 More detail]
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- Hyperinsulinism/hyperammonaemia syndrome [MedDRA LLT]
- Hyperinsulinism/hyperammonemia syndrome [MedDRA LLT]
- familial hyperinsulinemic hypoglycemia 6 [DO Concept]
- hyperinsulinemic hypoglycemia, familial, 6 [MeSH Supplementary Concept]

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