Neural tube defects, folate-sensitive

Preferred Label : Neural tube defects, folate-sensitive;

Symbol : NTDFS;

CISMeF acronym : NTDFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ntd, folate-sensitive;

Included titles and symbols : Spina bifida, folate-sensitive;

Description : Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005). Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects. Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.;

Inheritance : ? Autosomal recessive;

Prefixed ID : #601634;

Details

Origin ID

601634;

UMLS CUI

C1866558;

Automatic exact mappings (from CISMeF team)
- Neural tube closure defect [ORDO Disease]
- spina bifida, Folate-Sensitive [MeSH concept]
- spina bifida, Folate-Sensitive [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- neural tube defect, folate-sensitive [MeSH concept]
- neural tube defect, folate-sensitive [MeSH Supplementary Concept]
DO Cross reference
- neural tube defect [DO Concept]
Genes related to phenotype
- 5,10-methylenetetrahydrofolate reductase [OMIM gene]
- 5-methyltetrahydrofolate-homocysteine s-methyltransferase [OMIM gene]
- Methionine synthase reductase [OMIM gene]
- Methylenetetrahydrofolate dehydrogenase 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Spinal dysraphism [HPO term]
ORDO concept(s)
- Isolated spina bifida [ORDO Disease]
- Neural tube closure defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- neural tube defect, folate-sensitive [MeSH Supplementary Concept]
- neural tube defect, folate-sensitive [MeSH concept]

Keyword's position in hierarchy(ies) :

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