NTDS
MCID: NRL016
MIFTS: 67

Neural Tube Defects (NTDS) malady

Neuronal diseases, Fetal diseases categories

Summaries for Neural Tube Defects

About this section
Sources:
42NIH Rare Diseases, 33MedlinePlus, 3CDC, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MedlinePlus:33 Neural tube defects are birth defects of the brain, spine, or spinal cord. they happen in the first month of pregnancy, often before a woman even knows that she is pregnant. the two most common neural tube defects are spina bifida and anencephaly. in spina bifida, the fetal spinal column doesn't close completely. there is usually nerve damage that causes at least some paralysis of the legs. in anencephaly, most of the brain and skull do not develop. babies with anencephaly are either stillborn or die shortly after birth. another type of defect, chiari malformation, causes the brain tissue to extend into the spinal canal. the exact causes of neural tube defects aren't known. you're at greater risk of having an infant with a neural tube defect if you are obese have poorly controlled diabetes take certain antiseizure medicines getting enough folic acid, a type of b vitamin, before and during pregnancy prevents most neural tube defects. neural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. there is no cure for neural tube defects. the nerve damage and loss of function that are present at birth are usually permanent. however, a variety of treatments can sometimes prevent further damage and help with complications. nih: national institute of child health and human development

MalaCards: Neural Tube Defects, also known as isolated spina bifida, is related to spina bifida and down syndrome, and has symptoms including talipes-varus/metatarsal varus, congenital cardiac anomaly/malformation/cardiopathy and anencephaly/acrania. An important gene associated with Neural Tube Defects is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)), and among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Wnt / Hedgehog / Notch. The compounds b vitamins and 5-methyltetrahydrofolate have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes, and related mouse phenotypes are limbs/digits/tail and embryogenesis.

NIH Rare Diseases:42 Neural tube defects (ntds) refers to a group of abnormalities resulting from abnormal development of the brain, spine and/or spinal column. during the development of an affected embryo, a structure called the neural tube does not close completely as it should, resulting in a hole somewhere along the spinal column. specific examples of types of ntds include spina bifida, anencephaly, and encephalocele. symptoms vary depending on the type of ntd present but often include various forms of physical and/or mental disabilities. many affected individuals do not survive. the exact cause of ntds is not known but is thought to involve both genetic and nongenetic factors. getting enough folic acid before and during pregnancy can reduce the risk of some ntds. treatment depends on the severity and type of defect and may include surgery. last updated: 11/6/2013

CDC:3 Neglected Tropical Diseases (NTDs) are a group of parasitic and bacterial diseases that cause substantial illness for more than one billion people globally. Affecting the world's poorest people, NTDs impair physical and cognitive development, contribute to mother and child illness and death, make it difficult to farm or earn a living, and limit productivity in the workplace. As a result, NTDs trap the poor in a cycle of poverty and disease.

Wikipedia:63 Neural tube defects (NTDs) are one of the most common birth defects, affecting over 300,000 births... more...

Description from OMIM:46 182940,301410,601634

Aliases & Classifications for Neural Tube Defects

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 33MedlinePlus, 48Orphanet, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
isolated spina bifida:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

neural tube defects 42 20 22 46 44 33
isolated spina bifida 48
dysraphism 42
ntds 42


External Ids:

MESH via Orphanet35 D016135
SNOMED-CT via Orphanet57 67531005
UMLS via Orphanet61 C0080178
ICD10 via Orphanet26 Q05.0, Q05.1, Q05.2 Q05.3, Q05.4, Q05.5, Q05.6, Q05.7, Q05.8, Q05.9, more

Related Diseases for Neural Tube Defects

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Neural Tube Defects family:

Vangl1-Related Neural Tube Defect Vangl2-Related Neural Tube Defect

Diseases related to Neural Tube Defects via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida31.1MTRR, MTHFD1, MTHFR, MTR, AFP, CBS
2down syndrome30.8MTR, MTHFR, MTRR, AFP, CBS, SLC19A1
3hydrocephalus30.6AFP
4anencephaly30.4MTHFR, AFP
5neural tube defects, folate-sensitive30.4MTRR, MTR
6schizophrenia30.4MTHFR
7congenital heart defect30.4SLC19A1, MTHFR, ZIC3
8myelomeningocele30.1MTHFR, CBS
9craniorachischisis30.1VANGL2
10omphalocele30.1AFP
11cleft palate30.1MTR, SNAI2, MTHFR, SLC19A1
12hyperhomocysteinemia30.1SLC19A1, CBS, MTR, MTHFR, MTRR
13cleft lip30.1SLC19A1, MTRR, MTHFR, MTR
14homocystinuria30.1MTRR, MTHFR, CBS, MTR
15thrombophilia30.1CBS, MTHFR
16vascular disease30.1CBS
17diabetes mellitus30.1MTHFR
18gastroschisis30.1AFP
19obesity10.4
20orofacial cleft10.4
21occult spinal dysraphism10.4
22meningocele10.3
23meckel syndrome10.3
24cataract-congenital heart disease-neural tube defect syndrome10.3
25lipoma10.3
26tethered spinal cord syndrome10.3
27neuronitis10.3
28hyperglycemia10.3
29encephalocele10.3
30iniencephaly10.3
31vangl1-related neural tube defect10.3
32vangl2-related neural tube defect10.3
33spinal cord lipoma10.2
34neurogenic bladder10.2
35imperforate anus10.1
36cervicitis10.1
37trachoma10.1
38schistosomiasis10.1
39choroiditis10.1
40cartilage-hair hypoplasia10.1
41syndactyly10.1
42arachnoiditis10.1
43spondylocostal dysostosis10.1
44polydactyly10.1
45adjustment disorder10.1
46glucose intolerance10.1
47congenital diaphragmatic hernia10.1
48alcohol dependence10.1
49holoprosencephaly10.1
50craniosynostosis10.1

Graphical network of the top 20 diseases related to Neural Tube Defects:



Diseases related to neural tube defects

Clinical Features for Neural Tube Defects

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

182940,301410,601634

Clinical synopsis from OMIM:

182940

Symptoms:

48 (show all 25)
  • talipes-varus/metatarsal varus
  • congenital cardiac anomaly/malformation/cardiopathy
  • anencephaly/acrania
  • encephalocele/exencephaly
  • syringomelia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • early death/lethality
  • vertebral segmentation anomaly/hemivertebrae
  • scoliosis
  • spina bifida
  • myelomeningocele
  • impotence/painful erection/priapism/erection troubles
  • hydrocephaly
  • arnold-chiari anomaly
  • sphincter dysfunction
  • motor deficit/trouble
  • hypotonia
  • sensitive trouble/deficit
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • facial cleft
  • anomalies of the ribs
  • meningocele

Drugs & Therapeutics for Neural Tube Defects

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Neural Tube Defects

Drug clinical trials:

Search ClinicalTrials for Neural Tube Defects

Search NIH Clinical Center for Neural Tube Defects

Search CenterWatch for Neural Tube Defects

Genetic Tests for Neural Tube Defects

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Neural Tube Defects:

id Genetic test Affiliating Genes
1 Neural Tube Defect20 22

Anatomical Context for Neural Tube Defects

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Neural Tube Defects:

32
Brain, Spinal cord, Testes, Skin, Heart

Animal Models for Neural Tube Defects or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Neural Tube Defects

About this section

Genetic Variations for Neural Tube Defects

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Neural Tube Defects:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1CELSR1p.Ala773ValVAR_067213rs12170597
2CELSR1p.Arg2438GlnVAR_067215rs199688538
3CELSR1p.Ser2964LeuVAR_067217rs6008777
4CELSR1p.Pro2983AlaVAR_067218rs61741871
5DACT1p.Asn356LysVAR_068429
6SCRIBp.Pro454SerVAR_067219
7SCRIBp.Arg1535GlnVAR_067220
8VANGL1p.Arg274GlnVAR_035210
9VANGL1p.Met328ThrVAR_035211
10VANGL2p.Ser84PheVAR_067221
11VANGL2p.Arg353CysVAR_067222
12VANGL2p.Phe437SerVAR_067223

Expression for genes affiliated with Neural Tube Defects

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Neural Tube Defects

Search GEO for disease gene expression data for Neural Tube Defects.

Pathways for genes affiliated with Neural Tube Defects

About this section
Sources:
53Reactome, 4Cell Signaling Technology, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 49PharmGKB
See all sources

Pathways related to Neural Tube Defects according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5MTRR, MTR
210.5T, AFP, SNAI2, SCRIB
310.5MTR, CBS
4
Hide members
10.5MTR, CBS
510.5CBS, MTR
6
Hide members
10.4MTRR, MTR, CBS
7
Hide members
10.4CBS, MTR, MTRR
8
Hide members
10.4MTHFR, MTR, SHMT1, CBS
9
Hide members
10.4MTHFD1, MTHFR, MTR, SHMT1
10
Hide members
10.4MTRR, MTHFD1, MTHFR, MTR, SHMT1
1110.4CBS, SHMT1, MTR, MTRR
12
Hide members
10.4MTRR, MTHFD1, MTHFR, MTR, SHMT1, SLC19A1
13
Hide members
10.4CBS, SHMT1, MTR, MTHFR, MTHFD1, MTRR
14
Hide members
10.4CBS, SHMT1, MTR, MTHFR, MTHFD1, MTRR

Compounds for genes affiliated with Neural Tube Defects

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
See all sources

Compounds related to Neural Tube Defects according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1b vitamins4410.8CBS, SHMT1, MTR, MTHFR, MTRR
25-methyltetrahydrofolate44 1111.8MTRR, MTHFR, MTR, CBS, SLC19A1
3tetrahydrofolate4410.8MTRR, MTHFR, MTR, SHMT1, SLC19A1
4methylcobalamin44 2411.8MTRR, MTHFR, MTR, CBS
5cystathionine4410.8MTRR, MTHFD1, MTHFR, MTR, CBS
65,10-methenyltetrahydrofolate4410.8CBS, MTR, MTHFR, MTHFD1
7cobalamin44 2411.8MTRR, MTHFD1, MTHFR, MTR, CBS
8folate4410.8MTRR, MTHFD1, MTHFR, MTR, AFP, SHMT1
9thymidylate4410.8MTRR, MTHFD1, MTHFR, MTR, SHMT1, CBS
1010-formyltetrahydrofolate4410.8MTHFD1, MTHFR, MTR, SLC19A1
11homocysteine44 2411.8MTRR, MTHFD1, MTHFR, MTR, SHMT1, CBS
12methotrexate44 49 1112.8MTRR, MTHFD1, MTHFR, MTR, AFP, SHMT1
13vitamin b64410.8MTHFD1, MTHFR, MTR, SHMT1, CBS
14purine44 2411.8MTHFD1, MTHFR, MTR, SHMT1, CBS, SLC19A1
15betaine44 2411.8MTRR, MTHFR, MTR, CBS
16Tetrahydrofolic acid11 2411.8MTHFD1, MTHFR, MTR, SHMT1
17s-adenosylmethionine44 11 2412.8MTRR, MTHFR, MTR, SHMT1, CBS, SLC19A1
18methylmalonic acid44 2411.8MTRR, MTHFR, MTR, CBS
19vitamin b124410.7MTRR, MTHFR, MTR, AFP, CBS
20methionine4410.7MTRR, MTHFD1, MTHFR, MTR, SHMT1, CBS
21dihydrofolate4410.7MTHFR, MTR, SHMT1, SLC19A1
22cyanocobalamin49 11 2412.7MTRR, MTHFR, MTR
23pyridoxal 5-phosphate4410.7MTHFR, MTR, SHMT1, CBS
24hydroxocobalamin44 1111.7MTRR, MTHFR, MTR
25s-adenosylhomocysteine44 2411.7MTRR, MTHFR, MTR, CBS
26methyl-group4410.7MTR, MTHFR
27cob(ii)alamin44 2411.7MTRR, MTR
28zinc44 2411.6ZIC1, ZIC3, ZIC2, SNAI2, MTR, AFP
29ch2h4folate4410.6MTHFD1, MTHFR
30serine4410.6CBS, AFP
31adenosylcobalamin44 2411.6MTHFR, MTR
32Pyridoxine11 2411.5CBS, MTHFR
33mercaptopurine49 1111.5SLC19A1, MTHFR
34folic acid49 11 2412.5SLC19A1, MTHFR
35L-Methionine11 2411.4MTRR, MTR
36l-serine28 59 11 2413.1CBS, SHMT1

GO Terms for genes affiliated with Neural Tube Defects

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Neural Tube Defects according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573710.4FUZ, ZIC3, ZIC2, SNAI2, MTRR, MTHFD1

Biological processes related to Neural Tube Defects according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1neural tube closureGO:00184310.8ALX1, ZIC2, SCRIB, T, VANGL2, FUZ
2establishment of planar polarityGO:00173610.8CELSR1, FUZ, VANGL2
3methionine biosynthetic processGO:00908610.8MTHFR, MTHFD1, MTRR
4folic acid metabolic processGO:04665510.8MTHFD1, MTHFR, SHMT1, SLC19A1
5tetrahydrofolate interconversionGO:03599910.8MTHFD1, MTHFR, SHMT1
6water-soluble vitamin metabolic processGO:00676710.8MTRR, MTHFD1, MTHFR, MTR, SHMT1, SLC19A1
7anterior/posterior pattern specificationGO:00995210.8ZIC3, VANGL2, CELSR1, ALX1
8lateral sprouting involved in lung morphogenesisGO:06049010.8VANGL2, CELSR1
9vitamin metabolic processGO:00676610.8MTRR, MTHFD1, MTHFR, MTR, SHMT1, SLC19A1
10planar dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:06048910.8VANGL2, CELSR1
11sulfur amino acid metabolic processGO:00009610.8CBS, MTR, MTRR
12orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:06048810.8VANGL2, CELSR1
13establishment of body hair planar orientationGO:04810510.8VANGL2, CELSR1
14hair follicle developmentGO:00194210.7VANGL2, FUZ, CELSR1
15L-serine catabolic processGO:00656510.7CBS, SHMT1
16homocysteine metabolic processGO:05066710.7CBS, MTHFR
17wound healingGO:04206010.7SCRIB, VANGL2, CELSR1
18cellular nitrogen compound metabolic processGO:03464110.7MTRR, MTR, SHMT1, CBS
19apical protein localizationGO:04517610.6CELSR1, VANGL2
20planar cell polarity pathway involved in neural tube closureGO:09017910.6VANGL2, CELSR1
21small molecule metabolic processGO:04428110.6MTRR, MTHFD1, MTHFR, MTR, SHMT1, CBS
22methylationGO:03225910.5MTRR, MTR
23regulation of smoothened signaling pathwayGO:00858910.5FUZ, ZIC1
24cobalamin metabolic processGO:00923510.5MTR, MTRR
25SMAD protein signal transductionGO:06039510.4AFP, T
26post-anal tail morphogenesisGO:03634210.2VANGL2, T

Molecular functions related to Neural Tube Defects according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:07234110.5CBS, MTHFR

Products for genes affiliated with Neural Tube Defects

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neural Tube Defects

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet