Hyperinsulinemic hypoglycemia, familial, 7

Preferred Label : Hyperinsulinemic hypoglycemia, familial, 7;

Symbol : HHF7;

CISMeF acronym : HHF7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperinsulinemic hypoglycemia, exercise-induced;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 16, member 1 gene (SLC16A1, 600682.0003);

Laboratory abnormalities : Hypoglycemia; Hyperinsulinemia; Exercise-induced hyperinsulinism; Pyruvate-induced insulin secretion;

Prefixed ID : #610021;

Details

Origin ID

610021;

UMLS CUI

C1864902;

Automatic exact mappings (from CISMeF team)
- SLC16A1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Congenital isolated hyperinsulinism [ORDO Disease]
Currated CISMeF NLP mapping
- Exercise-induced hyperinsulinism [ICD-11 More detail]
- Exercise-induced hyperinsulinism [ORDO Disease]
- Exercise-induced hyperinsulinism (disorder) [SNOMED CT concept]
- Hyperinsulinemic hypoglycemia, familial, 7 [MeSH concept]
- Monocarboxylate Transporter 1 Hyperinsulinism [NCIt concept]
- familial hyperinsulinemic hypoglycemia 7 [DO Concept]
- hyperinsulinemic hypoglycemia, familial, 7 [MeSH Supplementary Concept]
DO Cross reference
- familial hyperinsulinemic hypoglycemia 7 [DO Concept]
Genes related to phenotype
- Solute carrier family 16 (monocarboxylic acid transporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperinsulinemia [HPO term]
- Hyperinsulinemic hypoglycemia [HPO term]
- Hypoglycemia [HPO term]
- Hypoglycemic seizures [HPO term]
- Islet cell hyperplasia, diffuse [HPO term]
- Pancreatic islet-cell hyperplasia [HPO term]
ORDO concept(s)
- Exercise-induced hyperinsulinism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Exercise-induced hyperinsulinism [ORDO Disease]
- Exercise-induced hyperinsulinism (disorder) [SNOMED CT concept]
- Hyperinsulinemic hypoglycemia, familial, 7 [MeSH concept]
- Monocarboxylate Transporter 1 Hyperinsulinism [NCIt concept]
- familial hyperinsulinemic hypoglycemia 7 [DO Concept]
- hyperinsulinemic hypoglycemia, familial, 7 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients