Glycine n-methyltransferase deficiency

Preferred Label : Glycine n-methyltransferase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gnmt deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the glycine N-methyltransferase gene (GNMT, 606628.0001);

Laboratory abnormalities : Hypermethioninemia; Elevated transaminases;

Prefixed ID : #606664;

Details

Origin ID

606664;

UMLS CUI

C1847720;

Currated CISMeF NLP mapping
- Glycine N-methyltransferase deficiency [ICD-11 More detail]
- Hypermethioninemia [MeSH Supplementary Concept]
- Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder) [SNOMED CT concept]
- Hypermethioninemia due to glycine N-methyltransferase deficiency [ORDO Disease]
- glycine N-Methyltransferase deficiency [MeSH concept]
- glycine N-methyltransferase deficiency [DO Concept]
DO Cross reference
- glycine N-methyltransferase deficiency [DO Concept]
Genes related to phenotype
- Glycine n-methyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hepatomegaly [HPO term]
- Hypermethioninemia [HPO term]
ORDO concept(s)
- Hypermethioninemia due to glycine N-methyltransferase deficiency [ORDO Disease]
See also inter- (CISMeF)
- hypermethioninemia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder) [SNOMED CT concept]
- Hypermethioninemia due to glycine N-methyltransferase deficiency [ORDO Disease]
- glycine N-Methyltransferase deficiency [MeSH concept]

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