MCID: UPP008
MIFTS: 19

Upper Thoracic Spina Bifida Aperta

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Upper Thoracic Spina Bifida Aperta

MalaCards integrated aliases for Upper Thoracic Spina Bifida Aperta:

Name: Upper Thoracic Spina Bifida Aperta 55

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 55 ORPHA268740

Summaries for Upper Thoracic Spina Bifida Aperta

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

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



Diseases related to Upper Thoracic Spina Bifida Aperta

Symptoms & Phenotypes for Upper Thoracic Spina Bifida Aperta

GenomeRNAi Phenotypes related to Upper Thoracic Spina Bifida Aperta 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 Aperta:

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 TBXT VANGL1 VANGL2 FUZ MTHFD1 MTHFR
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 Upper Thoracic Spina Bifida Aperta

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

Genetic Tests for Upper Thoracic Spina Bifida Aperta

Anatomical Context for Upper Thoracic Spina Bifida Aperta

Publications for Upper Thoracic Spina Bifida Aperta

Variations for Upper Thoracic Spina Bifida Aperta

Expression for Upper Thoracic Spina Bifida Aperta

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

Pathways for Upper Thoracic Spina Bifida Aperta

GO Terms for Upper Thoracic Spina Bifida Aperta

Cellular components related to Upper Thoracic Spina Bifida Aperta 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 Aperta 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 Aperta

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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