MCID: CRV061
MIFTS: 19

Cervicothoracic Spina Bifida Cystica

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cervicothoracic Spina Bifida Cystica

MalaCards integrated aliases for Cervicothoracic Spina Bifida Cystica:

Name: Cervicothoracic Spina Bifida Cystica 59

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 59 ORPHA268766

Summaries for Cervicothoracic Spina Bifida Cystica

MalaCards based summary : Cervicothoracic Spina Bifida Cystica is related to neural tube defects, folate-sensitive and placental abruption. An important gene associated with Cervicothoracic 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Cervicothoracic Spina Bifida Cystica

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



Diseases related to Cervicothoracic Spina Bifida Cystica

Symptoms & Phenotypes for Cervicothoracic Spina Bifida Cystica

GenomeRNAi Phenotypes related to Cervicothoracic Spina Bifida Cystica according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.36 TBXT VANGL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.36 TBXT
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.36 TBXT
4 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.36 VANGL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.36 VANGL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.36 TBXT
7 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.36 TBXT
8 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.36 VANGL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.36 VANGL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.36 TBXT

MGI Mouse Phenotypes related to Cervicothoracic 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 Cervicothoracic Spina Bifida Cystica

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

Genetic Tests for Cervicothoracic Spina Bifida Cystica

Anatomical Context for Cervicothoracic Spina Bifida Cystica

Publications for Cervicothoracic Spina Bifida Cystica

Variations for Cervicothoracic Spina Bifida Cystica

Expression for Cervicothoracic Spina Bifida Cystica

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

Pathways for Cervicothoracic Spina Bifida Cystica

GO Terms for Cervicothoracic Spina Bifida Cystica

Cellular components related to Cervicothoracic Spina Bifida Cystica according to GeneCards Suite gene sharing:

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

Biological processes related to Cervicothoracic 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 FUZ TBXT VANGL1 VANGL2
2 anterior/posterior pattern specification GO:0009952 9.52 TBXT VANGL2
3 non-motile cilium assembly GO:1905515 9.49 FUZ VANGL2
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.48 VANGL1 VANGL2
5 hair follicle development GO:0001942 9.46 FUZ VANGL2
6 one-carbon metabolic process GO:0006730 9.43 MTHFD1 MTHFR
7 folic acid metabolic process GO:0046655 9.4 MTHFD1 MTHFR
8 post-anal tail morphogenesis GO:0036342 9.37 TBXT VANGL2
9 establishment of planar polarity GO:0001736 9.32 FUZ VANGL2
10 methionine biosynthetic process GO:0009086 9.26 MTHFD1 MTHFR
11 tetrahydrofolate interconversion GO:0035999 9.16 MTHFD1 MTHFR
12 neural tube closure GO:0001843 9.02 FUZ MTHFD1 MTHFR TBXT VANGL2
13 methionine metabolic process GO:0006555 8.96 MTHFD1 MTHFR

Sources for Cervicothoracic Spina Bifida Cystica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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