MCID: NRL025
MIFTS: 27

Neural Tube Closure Defect

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neural Tube Closure Defect

MalaCards integrated aliases for Neural Tube Closure Defect:

Name: Neural Tube Closure Defect 58
Abnormality of Neural Tube Closure 6

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA268357

Summaries for Neural Tube Closure Defect

MalaCards based summary : Neural Tube Closure Defect, also known as abnormality of neural tube closure, is related to neural tube defects and lipomatosis, multiple. An important gene associated with Neural Tube Closure Defect is PARD3 (Par-3 Family Cell Polarity Regulator), and among its related pathways/superpathways are Axon guidance and Tight junction. The drugs Levoleucovorin and Folic acid have been mentioned in the context of this disorder. Related phenotypes are embryo and growth/size/body region

Related Diseases for Neural Tube Closure Defect

Diseases related to Neural Tube Closure Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 28.4 RAD9B PARD3 MTHFR ITGB1 DLC1
2 lipomatosis, multiple 10.1
3 corpus callosum, partial agenesis of, x-linked 10.1
4 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
5 spina bifida occulta 10.1
6 pleomorphic lipoma 10.1
7 meningocele 10.1
8 hydrocephalus 10.1
9 lumbosacral lipoma 10.1
10 polymicrogyria 10.1
11 anencephaly 9.7 PARD3 MTHFR

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



Diseases related to Neural Tube Closure Defect

Symptoms & Phenotypes for Neural Tube Closure Defect

MGI Mouse Phenotypes related to Neural Tube Closure Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 DLC1 ITGB1 PARD3 RAD9B
2 growth/size/body region MP:0005378 9.55 DLC1 ITGB1 MTHFR PARD3 RAD9B
3 mortality/aging MP:0010768 9.35 DLC1 ITGB1 MTHFR PARD3 RAD9B
4 nervous system MP:0003631 9.02 DLC1 ITGB1 MTHFR PARD3 RAD9B

Drugs & Therapeutics for Neural Tube Closure Defect

Drugs for Neural Tube Closure Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational 68538-85-2 149436
2
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3 Vitamin B Complex
4 Vitamins
5 Vitamin B9
6 Folate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Knowledge and Follow-up of Vitamin B9 Supplementation Recommendations for Women in the Periconceptional Period to Prevent Neural Tube Closure Defects: a Study Conducted With Health Professionnals and Women Who Have Just Given Birth in Rennes CHU. Recruiting NCT04195542

Search NIH Clinical Center for Neural Tube Closure Defect

Genetic Tests for Neural Tube Closure Defect

Anatomical Context for Neural Tube Closure Defect

Publications for Neural Tube Closure Defect

Articles related to Neural Tube Closure Defect:

(show all 31)
# Title Authors PMID Year
1
A Japanese man with spina bifida who successfully fathered a child following fertility treatment. 61
32743479 2020
2
Effects of Tartrazine on Neural Tube Development in the Early Stage of Chicken Embryos. 61
32530477 2020
3
Phenotypic analysis of Myo10 knockout (Myo10tm2/tm2) mice lacking full-length (motorized) but not brain-specific headless myosin X. 61
30679680 2019
4
Metamizole Sodium Induces Neural Tube Defects in a Chick Embryo Model. 61
27161474 2016
5
miR-302 Is Required for Timing of Neural Differentiation, Neural Tube Closure, and Embryonic Viability. 61
26212322 2015
6
Morphogenesis of the mouse neural plate depends on distinct roles of cofilin 1 in apical and basal epithelial domains. 61
25742799 2015
7
The effect of flurbiprofen on the development of anencephaly in early stage chicken embryos. 61
25365663 2015
8
Reversible neuronal and muscular toxicity of caffeine in developing vertebrates. 61
24667760 2014
9
Disruption of the Sec24d gene results in early embryonic lethality in the mouse. 61
23596517 2013
10
Loop-tail phenotype in heterozygous mice and neural tube defects in homozygous mice result from a nonsense mutation in the Vangl2 gene. 61
23359061 2013
11
Hes1 regulates the number and anterior-posterior patterning of mesencephalic dopaminergic neurons at the mid/hindbrain boundary (isthmus). 61
21798254 2011
12
Planar cell polarity pathway genes and risk for spina bifida. 61
20101694 2010
13
Target deletion of the cytoskeleton-associated protein palladin does not impair neurite outgrowth in mice. 61
19730728 2009
14
The let-7 microRNA target gene, Mlin41/Trim71 is required for mouse embryonic survival and neural tube closure. 61
19098426 2008
15
LUZP deficiency affects neural tube closure during brain development. 61
18801334 2008
16
Ependymoblastomatous exencephaly: a unique fetal malformation. 61
18078364 2008
17
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. 61
17035501 2006
18
Evaluation of the cranial base in amnion rupture sequence involving the anterior neural tube: implications regarding recurrence risk. 61
17001703 2006
19
Bullous aplasia cutis congenita. 61
12734490 2003
20
Cerebral abnormalities in lumbosacral neural tube closure defect: MR imaging evaluation. 61
11465794 2001
21
Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23. 61
11401431 2001
22
Identification of a new chemically induced allele (Lp(m1Jus)) at the loop-tail locus: morphology, histology, and genetic mapping. 61
11401449 2001
23
Disease states associated with telomerase deficiency appear earlier in mice with short telomeres. 61
10357808 1999
24
Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. 61
8673125 1996
25
Genetically determined absence of an initiation site of cranial neural tube closure is causally related to exencephaly in SELH/Bc mouse embryos. 61
8588181 1995
26
Histological study of the cranial neural folds of mice genetically liable to exencephaly. 61
8303615 1993
27
Ataxia and a cerebellar defect in the exencephaly-prone SELH/Bc mouse stock. 61
8322227 1993
28
[Sacrum abnormalities and neural tube closure defect: different manifestations of a same genetic disease?]. 61
1329011 1992
29
Spinal ganglia reduction in the splotch-delayed mouse neural tube defect mutant. 61
2763211 1989
30
Time-lapse photographic study of neural tube closure defects caused by xylocaine in the chick. 61
3368880 1988
31
The detection of neural tube closure defects by exfoliative cytology of amniotic fluid. 61
6169246 1981

Variations for Neural Tube Closure Defect

ClinVar genetic disease variations for Neural Tube Closure Defect:

6 (show top 50) (show all 229)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WIPI1 NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln) SNV Affects 626260 rs146357218 17:66425060-66425060 17:68428919-68428919
2 PARD3 NM_001184785.2(PARD3):c.2729C>A (p.Pro910Gln) SNV Pathogenic 254185 rs781461462 10:34620149-34620149 10:34331221-34331221
3 PARD3 NM_001184785.2(PARD3):c.2339A>G (p.Asp780Gly) SNV Pathogenic 254187 rs1114167354 10:34630624-34630624 10:34341696-34341696
4 PARD3 NC_000010.10:g.34835589_34975192del139604 Deletion Pathogenic 254190 10:34835589-34975192 10:34546661-34686264
5 RAD9B NM_001286535.2(RAD9B):c.1199dup (p.Arg401fs) Duplication Pathogenic 694421 rs748778907 12:110968402-110968403 12:110530597-110530598
6 RAD9B NM_001286535.2(RAD9B):c.960del (p.Ala321fs) Deletion Pathogenic 694400 12:110960045-110960045 12:110522240-110522240
7 PARD3 NM_001184785.2(PARD3):c.1046G>A (p.Arg349His) SNV risk factor 254188 rs199923448 10:34671821-34671821 10:34382893-34382893
8 DLC1 NM_182643.3(DLC1):c.1432C>T (p.Pro478Ser) SNV risk factor 518460 rs1303000329 8:12968321-12968321 8:13110812-13110812
9 DLC1 NM_182643.3(DLC1):c.2377C>T (p.Gln793Ter) SNV risk factor 518461 rs1563593163 8:12957469-12957469 8:13099960-13099960
10 ITGB1 NM_002211.4(ITGB1):c.2303dup (p.Glu769fs) Duplication risk factor 518462 rs1565818580 10:33197323-33197324 10:32908395-32908396
11 RAD9B NM_001286535.2(RAD9B):c.661G>A (p.Gly221Arg) SNV Likely pathogenic 694312 rs763079713 12:110956546-110956546 12:110518741-110518741
12 RAD9B NC_000012.11:g.110950633C>G SNV Likely pathogenic 694313 12:110950633-110950633
13 RAD9B NM_001286535.2(RAD9B):c.336A>G (p.Ile112Met) SNV Likely pathogenic 694314 rs1593037878 12:110944446-110944446 12:110506641-110506641
14 RAD9B NM_001286535.2(RAD9B):c.1060A>G (p.Ser354Gly) SNV Likely pathogenic 694315 rs747100389 12:110960151-110960151 12:110522346-110522346
15 RAD9B NM_001286535.2(RAD9B):c.28A>G (p.Ser10Gly) SNV Likely pathogenic 694398 rs372056091 12:110940170-110940170 12:110502365-110502365
16 RAD9B NM_001286535.2(RAD9B):c.645T>A (p.Phe215Leu) SNV Likely pathogenic 694399 rs1593083585 12:110956530-110956530 12:110518725-110518725
17 PARD3 NM_001184785.2(PARD3):c.2572A>T (p.Thr858Ser) SNV risk factor 254186 rs762921297 10:34625160-34625160 10:34336232-34336232
18 PARD3 NM_001184785.2(PARD3):c.583-3T>C SNV risk factor 254189 rs557643577 10:34739379-34739379 10:34450451-34450451
19 PARD3 NM_001184785.2(PARD3):c.3736G>A (p.Gly1246Ser) SNV risk factor 254184 rs757259023 10:34400423-34400423 10:34111495-34111495
20 MTHFR NM_005957.4(MTHFR):c.1683G>A (p.Trp561Ter) SNV risk factor 187898 rs786204030 1:11851333-11851333 1:11791276-11791276
21 VANGL1 NM_138959.3(VANGL1):c.*1748C>T SNV Uncertain significance 873797 1:116235748-116235748 1:115693127-115693127
22 VANGL1 NM_138959.3(VANGL1):c.759G>C (p.Gln253His) SNV Uncertain significance 875487 1:116206836-116206836 1:115664215-115664215
23 VANGL1 NM_138959.3(VANGL1):c.867C>A (p.Ile289=) SNV Uncertain significance 876504 1:116225039-116225039 1:115682418-115682418
24 VANGL1 NM_138959.3(VANGL1):c.*1638A>G SNV Uncertain significance 876641 1:116235638-116235638 1:115693017-115693017
25 VANGL1 NM_138959.3(VANGL1):c.1201A>C (p.Met401Leu) SNV Uncertain significance 874610 1:116228035-116228035 1:115685414-115685414
26 VANGL1 NM_138959.3(VANGL1):c.*1402C>G SNV Uncertain significance 874702 1:116235402-116235402 1:115692781-115692781
27 VANGL1 NM_138959.3(VANGL1):c.*2009C>T SNV Uncertain significance 874758 1:116236009-116236009 1:115693388-115693388
28 VANGL1 NM_138959.3(VANGL1):c.*2592T>C SNV Uncertain significance 874802 1:116236592-116236592 1:115693971-115693971
29 VANGL1 NM_138959.3(VANGL1):c.*2708G>A SNV Uncertain significance 874803 1:116236708-116236708 1:115694087-115694087
30 VANGL1 NM_138959.3(VANGL1):c.*3409T>C SNV Uncertain significance 874853 1:116237409-116237409 1:115694788-115694788
31 VANGL1 NM_138959.3(VANGL1):c.*4254A>G SNV Uncertain significance 874904 1:116238254-116238254 1:115695633-115695633
32 VANGL1 NM_138959.3(VANGL1):c.*4272T>G SNV Uncertain significance 874905 1:116238272-116238272 1:115695651-115695651
33 VANGL1 NM_138959.3(VANGL1):c.*4347C>T SNV Uncertain significance 874906 1:116238347-116238347 1:115695726-115695726
34 VANGL1 NM_138959.3(VANGL1):c.231G>A (p.Thr77=) SNV Uncertain significance 728703 rs186509771 1:116206308-116206308 1:115663687-115663687
35 VANGL1 NM_138959.3(VANGL1):c.274A>G (p.Ile92Val) SNV Uncertain significance 445589 rs143196463 1:116206351-116206351 1:115663730-115663730
36 VANGL1 NM_138959.3(VANGL1):c.*3049G>C SNV Uncertain significance 876734 1:116237049-116237049 1:115694428-115694428
37 VANGL1 NM_138959.3(VANGL1):c.*3150T>C SNV Uncertain significance 876735 1:116237150-116237150 1:115694529-115694529
38 VANGL1 NM_138959.3(VANGL1):c.*3267C>T SNV Uncertain significance 873905 1:116237267-116237267 1:115694646-115694646
39 VANGL1 NM_138959.3(VANGL1):c.*3671T>C SNV Uncertain significance 876783 1:116237671-116237671 1:115695050-115695050
40 VANGL1 NM_138959.3(VANGL1):c.*3708C>T SNV Uncertain significance 876784 1:116237708-116237708 1:115695087-115695087
41 VANGL1 NM_138959.3(VANGL1):c.*4800C>A SNV Uncertain significance 876832 1:116238800-116238800 1:115696179-115696179
42 VANGL1 NM_138959.3(VANGL1):c.*6681A>G SNV Uncertain significance 876931 1:116240681-116240681 1:115698060-115698060
43 VANGL1 NM_138959.3(VANGL1):c.*6687A>G SNV Uncertain significance 876932 1:116240687-116240687 1:115698066-115698066
44 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) SNV Uncertain significance 167818 rs142594314 1:116206600-116206600 1:115663979-115663979
45 VANGL1 NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln) SNV Uncertain significance 183430 rs761123443 1:116206619-116206619 1:115663998-115663998
46 VANGL1 NM_138959.3(VANGL1):c.*4846G>C SNV Uncertain significance 292080 rs868558700 1:116238846-116238846 1:115696225-115696225
47 VANGL1 NM_138959.3(VANGL1):c.-145G>T SNV Uncertain significance 292000 rs559438343 1:116184700-116184700 1:115642079-115642079
48 VANGL1 NM_138959.3(VANGL1):c.*1042C>A SNV Uncertain significance 292032 rs886045125 1:116235042-116235042 1:115692421-115692421
49 VANGL1 NM_138959.3(VANGL1):c.*2992G>A SNV Uncertain significance 292060 rs886045135 1:116236992-116236992 1:115694371-115694371
50 VANGL1 NM_138959.3(VANGL1):c.*301G>C SNV Uncertain significance 292019 rs193075321 1:116234301-116234301 1:115691680-115691680

Expression for Neural Tube Closure Defect

Search GEO for disease gene expression data for Neural Tube Closure Defect.

Pathways for Neural Tube Closure Defect

Pathways related to Neural Tube Closure Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.22 PARD3 ITGB1
2 10.85 PARD3 ITGB1

GO Terms for Neural Tube Closure Defect

Cellular components related to Neural Tube Closure Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.13 PARD3 ITGB1 DLC1
2 ruffle membrane GO:0032587 8.62 ITGB1 DLC1

Biological processes related to Neural Tube Closure Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 8.96 PARD3 ITGB1
2 neural tube closure GO:0001843 8.62 MTHFR DLC1

Sources for Neural Tube Closure Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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