NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs: NTD SPINA BIFIDA, INCLUDED
Number of Symptoms 14
OrphanetNr:
OMIM Id: 182940
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000020) Urinary incontinence 75 / 7739
2
(HPO:0010301) Spinal dysraphism 14 / 7739
3
(HPO:0002475) Myelomeningocele 29 / 7739
4
(HPO:0002414) Spina bifida 47 / 7739
5
(HPO:0003298) Spina bifida occulta 67 / 7739
6
(HPO:0008482) Asymmetry of spinal facet joints 2 / 7739
7
(OMIM) Sacral agenesis 4 / 7739
8
(OMIM) Neurologic signs in legs 1 / 7739
9
(HPO:0100563) Diastomatomyelia 4 / 7739
10
(OMIM) Sacral hairy patch or dimple 1 / 7739
11
(OMIM) Intradural/extradural lipoma 1 / 7739
12
(HPO:0002323) Anencephaly 28 / 7739
13
(MedDRA:10059387) Caudal regression syndrome 2 / 7739
14
(HPO:0000238) Hydrocephalus 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait ...
Clinical Description OMIM Fineman et al. (1982) studied 4 families in which multiple members had spina bifida cystica and/or spina bifida occulta. Excluding the probands, the frequency of all types of spinal/vertebral defects in family members was found to be 30/58 ...
Molecular genetics OMIM Morrison et al. (1996) reported that an allelic variant of the T locus, referred to as TIVS7-2 (601637.0001), showed a bias in transmission from heterozygous parents to offspring with neural tube defects in Dutch and U.K. families. Shields ...
Population genetics OMIM Spina bifida and anencephaly are common birth defects, affecting 0.5 to 2 per 1,000 pregnancies worldwide. Craniorachischisis, the most severe neural tube defect, is considered rare, although estimates of prevalence range from 1 in 100,000 in the United ...