NEURAL TUBE DEFECTS, FOLATE-SENSITIVE

General Information (adopted from Orphanet):

Synonyms, Signs: NTD, FOLATE-SENSITIVE SPINA BIFIDA, FOLATE-SENSITIVE, INCLUDED
Number of Symptoms 4
OrphanetNr:
OMIM Id: 601634
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010301) Spinal dysraphism 14 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(OMIM) Thermolabile form of MTHFR 1 / 7739
4
(OMIM) Maternal abnormal homocysteine metabolism. 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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) ...
Molecular genetics OMIM Van der Put et al. (1995) found an increased frequency of the 677C-T thermolabile MTHFR polymorphism (607093.0003) among 55 Dutch patients with spina bifida and their parents compared to controls. Sixteen percent of mothers, 10% of fathers, and ...