MCID: CRV062
MIFTS: 19

Cervical Spina Bifida Cystica

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cervical Spina Bifida Cystica

MalaCards integrated aliases for Cervical Spina Bifida Cystica:

Name: Cervical Spina Bifida Cystica 58

Characteristics:

Orphanet epidemiological data:

58
cervical 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 ORPHA268762

Summaries for Cervical Spina Bifida Cystica

MalaCards based summary : Cervical Spina Bifida Cystica is related to meningocele and tethered spinal cord syndrome. An important gene associated with Cervical 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 Cervical Spina Bifida Cystica

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 meningocele 30.2 VANGL1 FUZ
2 tethered spinal cord syndrome 30.1 VANGL1 MTHFD1
3 neural tube defects 28.4 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
4 spina bifida cystica 10.2
5 myelocystocele 10.2
6 choline deficiency disease 10.0 MTHFR MTHFD1
7 isolated anencephaly 10.0 VANGL2 MTHFR
8 isolated exencephaly 10.0 VANGL2 MTHFR
9 cutis laxa, autosomal dominant 3 10.0 MTHFR MTHFD1
10 exencephaly 9.9 VANGL2 MTHFR
11 cutis laxa, autosomal dominant 2 9.9 MTHFR MTHFD1
12 neural tube defects, folate-sensitive 9.9 MTHFR MTHFD1
13 placental abruption 9.9 MTHFR MTHFD1
14 omphalocele 9.8 MTHFR MTHFD1
15 megaloblastic anemia 9.8 MTHFR MTHFD1
16 sacral defect with anterior meningocele 9.8 VANGL1 FUZ
17 brachydactyly, type b1 9.8 VANGL2 VANGL1
18 ocular motility disease 9.7 VANGL2 VANGL1
19 clubfoot 9.5 VANGL1 MTHFR
20 anencephaly 9.3 VANGL2 VANGL1 MTHFR MTHFD1
21 physical disorder 9.3 VANGL2 VANGL1 MTHFR MTHFD1
22 spina bifida occulta 9.1 VANGL2 VANGL1 MTHFR MTHFD1 FUZ
23 myelomeningocele 9.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1
24 total spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
25 cervicothoracic spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
26 cervical spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
27 lumbosacral spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
28 thoracolumbosacral spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
29 upper thoracic spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
30 total spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
31 thoracolumbosacral spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
32 lumbosacral spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
33 cervicothoracic spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
34 upper thoracic spina bifida cystica 8.7 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ

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



Diseases related to Cervical Spina Bifida Cystica

Symptoms & Phenotypes for Cervical Spina Bifida Cystica

GenomeRNAi Phenotypes related to Cervical 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 Cervical 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 Cervical Spina Bifida Cystica

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

Genetic Tests for Cervical Spina Bifida Cystica

Anatomical Context for Cervical Spina Bifida Cystica

MalaCards organs/tissues related to Cervical Spina Bifida Cystica:

40
Spinal Cord

Publications for Cervical Spina Bifida Cystica

Articles related to Cervical Spina Bifida Cystica:

# Title Authors PMID Year
1
Cystic Cervical Dysraphism: Experience of 12 Cases. 61
29899770 2018
2
Cervical spina bifida cystica: MRI differentiation of the subtypes in children. 61
15959736 2006

Variations for Cervical Spina Bifida Cystica

Expression for Cervical Spina Bifida Cystica

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

Pathways for Cervical Spina Bifida Cystica

GO Terms for Cervical Spina Bifida Cystica

Cellular components related to Cervical 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 Cervical 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 Cervical 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
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