MCID: THR084
MIFTS: 17

Thoracolumbosacral Spina Bifida Cystica

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thoracolumbosacral Spina Bifida Cystica

MalaCards integrated aliases for Thoracolumbosacral Spina Bifida Cystica:

Name: Thoracolumbosacral Spina Bifida Cystica 59

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 59 ORPHA268752

Summaries for Thoracolumbosacral Spina Bifida Cystica

MalaCards based summary : Thoracolumbosacral Spina Bifida Cystica is related to neural tube defects, folate-sensitive and placental abruption. An important gene associated with Thoracolumbosacral Spina Bifida Cystica 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 Thoracolumbosacral Spina Bifida Cystica

Graphical network of the top 20 diseases related to Thoracolumbosacral Spina Bifida Cystica:



Diseases related to Thoracolumbosacral Spina Bifida Cystica

Symptoms & Phenotypes for Thoracolumbosacral Spina Bifida Cystica

MGI Mouse Phenotypes related to Thoracolumbosacral Spina Bifida Cystica:

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 Thoracolumbosacral Spina Bifida Cystica

Search Clinical Trials , NIH Clinical Center for Thoracolumbosacral Spina Bifida Cystica

Genetic Tests for Thoracolumbosacral Spina Bifida Cystica

Anatomical Context for Thoracolumbosacral Spina Bifida Cystica

Publications for Thoracolumbosacral Spina Bifida Cystica

Variations for Thoracolumbosacral Spina Bifida Cystica

Expression for Thoracolumbosacral Spina Bifida Cystica

Search GEO for disease gene expression data for Thoracolumbosacral Spina Bifida Cystica.

Pathways for Thoracolumbosacral Spina Bifida Cystica

GO Terms for Thoracolumbosacral Spina Bifida Cystica

Cellular components related to Thoracolumbosacral Spina Bifida Cystica 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 Thoracolumbosacral Spina Bifida Cystica 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 Thoracolumbosacral Spina Bifida Cystica

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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