MCID: TTL009
MIFTS: 17

Total Spina Bifida Aperta

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Total Spina Bifida Aperta

MalaCards integrated aliases for Total Spina Bifida Aperta:

Name: Total Spina Bifida Aperta 59

Characteristics:

Orphanet epidemiological data:

59
total spina bifida aperta
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA268377

Summaries for Total Spina Bifida Aperta

MalaCards based summary : Total Spina Bifida Aperta is related to neural tube defects, folate-sensitive and placental abruption. An important gene associated with Total Spina Bifida Aperta is FUZ (Fuzzy Planar Cell Polarity Protein), and among its related pathways/superpathways is One carbon pool by folate. Related phenotypes are cardiovascular system and growth/size/body region

Related Diseases for Total Spina Bifida Aperta

Graphical network of the top 20 diseases related to Total Spina Bifida Aperta:



Diseases related to Total Spina Bifida Aperta

Symptoms & Phenotypes for Total Spina Bifida Aperta

MGI Mouse Phenotypes related to Total Spina Bifida Aperta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 FUZ MTHFD1 TBXT VANGL1 VANGL2
2 growth/size/body region MP:0005378 9.8 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
3 embryo MP:0005380 9.77 FUZ MTHFD1 TBXT VANGL1 VANGL2
4 limbs/digits/tail MP:0005371 9.73 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
5 mortality/aging MP:0010768 9.63 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
6 nervous system MP:0003631 9.43 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
7 skeleton MP:0005390 9.02 FUZ MTHFR TBXT VANGL1 VANGL2

Drugs & Therapeutics for Total Spina Bifida Aperta

Search Clinical Trials , NIH Clinical Center for Total Spina Bifida Aperta

Genetic Tests for Total Spina Bifida Aperta

Anatomical Context for Total Spina Bifida Aperta

Publications for Total Spina Bifida Aperta

Variations for Total Spina Bifida Aperta

Expression for Total Spina Bifida Aperta

Search GEO for disease gene expression data for Total Spina Bifida Aperta.

Pathways for Total Spina Bifida Aperta

GO Terms for Total Spina Bifida Aperta

Cellular components related to Total Spina Bifida Aperta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 8.62 VANGL2 VANGL1

Biological processes related to Total Spina Bifida Aperta according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.81 VANGL2 VANGL1 TBXT FUZ
2 anterior/posterior pattern specification GO:0009952 9.52 VANGL2 TBXT
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.49 VANGL2 VANGL1
4 non-motile cilium assembly GO:1905515 9.48 VANGL2 FUZ
5 hair follicle development GO:0001942 9.46 VANGL2 FUZ
6 one-carbon metabolic process GO:0006730 9.43 MTHFR MTHFD1
7 folic acid metabolic process GO:0046655 9.4 MTHFR MTHFD1
8 post-anal tail morphogenesis GO:0036342 9.37 VANGL2 TBXT
9 establishment of planar polarity GO:0001736 9.32 VANGL2 FUZ
10 tetrahydrofolate interconversion GO:0035999 9.26 MTHFR MTHFD1
11 methionine biosynthetic process GO:0009086 9.16 MTHFR MTHFD1
12 neural tube closure GO:0001843 9.02 VANGL2 TBXT MTHFR MTHFD1 FUZ
13 methionine metabolic process GO:0006555 8.96 MTHFR MTHFD1

Sources for Total Spina Bifida Aperta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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