MCID: CRV061
MIFTS: 17

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 58

Characteristics:

Orphanet epidemiological data:

58
cervicothoracic spina bifida cystica
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA268766

Summaries for Cervicothoracic Spina Bifida Cystica

MalaCards based summary : Cervicothoracic Spina Bifida Cystica is related to choline deficiency disease and isolated anencephaly. 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. Affiliated tissues include spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Cervicothoracic Spina Bifida Cystica

Diseases related to Cervicothoracic Spina Bifida Cystica via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 choline deficiency disease 10.0 MTHFR MTHFD1
2 isolated anencephaly 10.0 VANGL2 MTHFR
3 isolated exencephaly 10.0 VANGL2 MTHFR
4 cutis laxa, autosomal dominant 3 10.0 MTHFR MTHFD1
5 exencephaly 9.9 VANGL2 MTHFR
6 cutis laxa, autosomal dominant 2 9.9 MTHFR MTHFD1
7 neural tube defects, folate-sensitive 9.9 MTHFR MTHFD1
8 meningocele 9.9 VANGL1 FUZ
9 placental abruption 9.9 MTHFR MTHFD1
10 omphalocele 9.8 MTHFR MTHFD1
11 tethered spinal cord syndrome 9.8 VANGL1 MTHFD1
12 megaloblastic anemia 9.8 MTHFR MTHFD1
13 sacral defect with anterior meningocele 9.8 VANGL1 FUZ
14 brachydactyly, type b1 9.8 VANGL2 VANGL1
15 ocular motility disease 9.7 VANGL2 VANGL1
16 clubfoot 9.5 VANGL1 MTHFR
17 anencephaly 9.3 VANGL2 VANGL1 MTHFR MTHFD1
18 physical disorder 9.3 VANGL2 VANGL1 MTHFR MTHFD1
19 spina bifida occulta 9.1 VANGL2 VANGL1 MTHFR MTHFD1 FUZ
20 myelomeningocele 9.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1
21 total spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
22 cervicothoracic spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
23 cervical spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
24 lumbosacral spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
25 thoracolumbosacral spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
26 upper thoracic spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
27 total spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
28 thoracolumbosacral spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
29 lumbosacral spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
30 cervical spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
31 upper thoracic spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
32 neural tube defects 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ

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 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.44 VANGL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.44 TBXT VANGL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.44 VANGL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.44 TBXT
5 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.44 VANGL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.44 TBXT
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.44 VANGL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.44 TBXT
9 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.44 VANGL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.44 TBXT
11 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.44 VANGL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.44 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

MalaCards organs/tissues related to Cervicothoracic Spina Bifida Cystica:

40
Spinal Cord

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 VANGL2 VANGL1

Biological processes related to Cervicothoracic Spina Bifida Cystica according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.73 VANGL2 VANGL1 TBXT FUZ
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.46 VANGL2 VANGL1
3 non-motile cilium assembly GO:1905515 9.4 VANGL2 FUZ
4 folic acid metabolic process GO:0046655 9.37 MTHFR MTHFD1
5 establishment of planar polarity GO:0001736 9.32 VANGL2 FUZ
6 methionine biosynthetic process GO:0009086 9.26 MTHFR MTHFD1
7 tetrahydrofolate interconversion GO:0035999 9.16 MTHFR MTHFD1
8 neural tube closure GO:0001843 9.02 VANGL2 TBXT MTHFR MTHFD1 FUZ
9 methionine metabolic process GO:0006555 8.96 MTHFR MTHFD1

Sources for Cervicothoracic Spina Bifida Cystica

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....