MCID: UPP007
MIFTS: 19

Upper Thoracic Spina Bifida Cystica

Categories: Fetal diseases, Neuronal 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 60

Characteristics:

Orphanet epidemiological data:

60
upper thoracic spina bifida cystica
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 60 ORPHA268770

Summaries for Upper Thoracic Spina Bifida Cystica

MalaCards based summary : Upper Thoracic Spina Bifida Cystica is related to neural tube defects, folate-sensitive and placental abruption. 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:

27 (showing 10, show less)
# 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:

47 (showing 7, show less)
# 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 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:

(showing 1, show less)
# 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:

(showing 13, show less)
# 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 Upper Thoracic Spina Bifida Cystica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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