5' 10' Methylenetetrahydrofolate Reductase Deficiency

Preferred Label : 5' 10' Methylenetetrahydrofolate Reductase Deficiency;

NCIt synonyms : 5' 10' Methylenetetrahydrofolate Reductase Deficiency (MTHFR); MTHFR;

NCIt related terms : 5,10-Methylenetetrahydrofolate Reductase Deficiency;

NCIt definition : A rare disorder associated with mental retardation, spasticity, and early death.;

Alternative definition : NICHD: 5,10-Methylenetetrahydrofolate reductase deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.;

Details

Origin ID

C84524;

UMLS CUI

C0268615;

Automatic exact mappings (from CISMeF team)
- 5,10-methylenetetrahydrofolate reductase [OMIM gene]
- Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity [OMIM Phenotype]
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency [ORDO Disease]
- Methylenetetrahydrofolate reductase deficiency [MeSH concept]
- Methylenetetrahydrofolate reductase deficiency [MedDRA Preferred Term]
- methylenetetrahydrofolate reductase [ORDO Gene]
- methylenetetrahydrofolate reductase (NADPH2) [MeSH Descriptor]
- methylenetetrahydrofolate reductase deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) [SNOMED CT concept]
- 5,10-methylenetetrahydrofolate reductase deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) [SNOMED CT concept]
- 5,10-methylenetetrahydrofolate reductase deficiency [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MTHFR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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