Hypoinsulinemic hypoglycemia with hemihypertrophy

Preferred Label : Hypoinsulinemic hypoglycemia with hemihypertrophy;

Symbol : HIHGHH;

CISMeF acronym : HIHGHH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the V-Akt murine thymoma viral oncogene homolog-2 gene (AKT2, 164731.0002);

Laboratory abnormalities : Low serum levels of ketone bodies; Low serum levels of branched-chain amino acids; No elevation of free fatty acids;

Prefixed ID : #240900;

Details

Origin ID

240900;

UMLS CUI

C3278384;

Automatic exact mappings (from CISMeF team)
- AKT2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Hypoinsulinemic hypoglycemia and body hemihypertrophy [ORDO Disease]
- Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder) [SNOMED CT concept]
Genes related to phenotype
- Akt serine/threonine kinase 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Gynecomastia [HPO term]
- Hemihypertrophy [HPO term]
- Large for gestational age [HPO term]
- Neonatal hypoglycemia [HPO term]
- Seizure [HPO term]
- Truncal obesity [HPO term]
ORDO concept(s)
- Hypoinsulinemic hypoglycemia and body hemihypertrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoinsulinemic hypoglycemia and body hemihypertrophy [ORDO Disease]

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