MCID: UPP007
MIFTS: 19

Upper Thoracic Spina Bifida Cystica

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Upper Thoracic Spina Bifida Cystica

MalaCards integrated aliases for Upper Thoracic Spina Bifida Cystica:

Name: Upper Thoracic Spina Bifida Cystica 55

Characteristics:

Orphanet epidemiological data:

55
upper thoracic spina bifida cystica
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA268770

Summaries for Upper Thoracic Spina Bifida Cystica

MalaCards based summary : Upper Thoracic Spina Bifida Cystica is related to sacral defect with anterior meningocele and strabismus. An important gene associated with Upper Thoracic 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 Upper Thoracic Spina Bifida Cystica

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



Diseases related to Upper Thoracic Spina Bifida Cystica

Symptoms & Phenotypes for Upper Thoracic Spina Bifida Cystica

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

25
# 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 Upper Thoracic Spina Bifida Cystica:

43
# 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 TBXT VANGL1 VANGL2 FUZ MTHFR

Drugs & Therapeutics for Upper Thoracic Spina Bifida Cystica

Search Clinical Trials , NIH Clinical Center for Upper Thoracic Spina Bifida Cystica

Genetic Tests for Upper Thoracic Spina Bifida Cystica

Anatomical Context for Upper Thoracic Spina Bifida Cystica

Publications for Upper Thoracic Spina Bifida Cystica

Variations for Upper Thoracic Spina Bifida Cystica

Expression for Upper Thoracic Spina Bifida Cystica

Search GEO for disease gene expression data for Upper Thoracic Spina Bifida Cystica.

Pathways for Upper Thoracic Spina Bifida Cystica

GO Terms for Upper Thoracic Spina Bifida Cystica

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.76 FUZ TBXT VANGL1 VANGL2
2 anterior/posterior pattern specification GO:0009952 9.49 TBXT VANGL2
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.48 VANGL1 VANGL2
4 non-motile cilium assembly GO:1905515 9.43 FUZ VANGL2
5 hair follicle development GO:0001942 9.4 FUZ VANGL2
6 folic acid metabolic process GO:0046655 9.37 MTHFD1 MTHFR
7 post-anal tail morphogenesis GO:0036342 9.32 TBXT VANGL2
8 establishment of planar polarity GO:0001736 9.26 FUZ VANGL2
9 tetrahydrofolate interconversion GO:0035999 9.16 MTHFD1 MTHFR
10 methionine metabolic process GO:0006555 8.96 MTHFD1 MTHFR
11 neural tube closure GO:0001843 8.92 FUZ MTHFD1 TBXT VANGL2

Sources for Upper Thoracic Spina Bifida Cystica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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