Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity

Preferred Label : Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methylenetetrahydrofolate reductase deficiency; Mthfr deficiency;

Included titles and symbols : Mthfr deficiency, thermolabile type;

Description : Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified (Rosenblatt et al., 1992).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the N(5,10)-methylenetetrahydrofolate reductase gene (MTHFR, 607093.0001);

Laboratory abnormalities : Methylenetetrahydrofolate reductase deficiency; Low to normal plasma methionine; Homocystinemia; Homocystinuria;

Prefixed ID : #236250;

Détails

Origin ID

236250;

UMLS CUI

C1856061;

Automatic exact mappings (from CISMeF team)
- 5' 10' Methylenetetrahydrofolate Reductase Deficiency [NCIt concept]
- 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) [SNOMED CT concept]
- Homocystinuria due to methylenetetrahydrofolate reductase deficiency [ICD-11 More detail]
- MTHFR deficiency [MedDRA LLT]
- Methylenetetrahydrofolate reductase deficiency [MedDRA Preferred Term]
- mthfr deficiency, thermolabile type [MeSH concept]
- mthfr deficiency, thermolabile type [MeSH Supplementary Concept]
DO Cross reference
- homocystinuria [DO Concept]
Genes related to phenotype
- 5,10-methylenetetrahydrofolate reductase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Homocystinuria [HPO term]
- Hyperhomocystinemia [HPO term]
- Incoordination [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Paresthesia [HPO term]
- Seizure [HPO term]
- Stroke [HPO term]
ORDO concept(s)
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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