MCID: UPP007
MIFTS: 18

Upper Thoracic Spina Bifida Cystica malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Upper Thoracic Spina Bifida Cystica

About this section

Aliases & Descriptions for Upper Thoracic Spina Bifida Cystica:

Name: Upper Thoracic Spina Bifida Cystica 52

Characteristics:

Orphanet epidemiological data:

52
upper thoracic spina bifida cystica:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA268770

Summaries for Upper Thoracic Spina Bifida Cystica

About this section
MalaCards based summary: Upper Thoracic Spina Bifida Cystica is related to caudal regression syndrome and vaginal adenoma. An important gene associated with Upper Thoracic Spina Bifida Cystica is FUZ (Fuzzy Planar Cell Polarity Protein). Related mouse phenotypes are hearing/vestibular/ear and embryo.

Related Diseases for Upper Thoracic Spina Bifida Cystica

About this section

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



Diseases related to upper thoracic spina bifida cystica

Symptoms for Upper Thoracic Spina Bifida Cystica

About this section

Drugs & Therapeutics for Upper Thoracic Spina Bifida Cystica

About this section

Interventional clinical trials:

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

Genetic Tests for Upper Thoracic Spina Bifida Cystica

About this section

Anatomical Context for Upper Thoracic Spina Bifida Cystica

About this section

Animal Models for Upper Thoracic Spina Bifida Cystica or affiliated genes

About this section

MGI Mouse Phenotypes related to Upper Thoracic Spina Bifida Cystica:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6FUZ, VANGL1, VANGL2
2MP:00053808.2FUZ, MTHFD1, T, VANGL1, VANGL2
3MP:00053908.1FUZ, MTHFR, T, VANGL1, VANGL2
4MP:00053858.0FUZ, MTHFD1, T, VANGL1, VANGL2
5MP:00107687.4FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
6MP:00036317.4FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
7MP:00053787.3FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
8MP:00053717.3FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2

Publications for Upper Thoracic Spina Bifida Cystica

About this section

Variations for Upper Thoracic Spina Bifida Cystica

About this section

Expression for genes affiliated with Upper Thoracic Spina Bifida Cystica

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

Pathways for genes affiliated with Upper Thoracic Spina Bifida Cystica

About this section

GO Terms for genes affiliated with Upper Thoracic Spina Bifida Cystica

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:00163289.5VANGL1, VANGL2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1establishment of planar polarityGO:00017369.8FUZ, VANGL2
2Wnt signaling pathway, planar cell polarity pathwayGO:00600719.8VANGL1, VANGL2
3post-anal tail morphogenesisGO:00363429.7T, VANGL2
4methionine metabolic processGO:00065559.7MTHFD1, MTHFR
5hair follicle developmentGO:00019429.6FUZ, VANGL2
6anterior/posterior pattern specificationGO:00099529.6T, VANGL2
7tetrahydrofolate interconversionGO:00359999.5MTHFD1, MTHFR
8nonmotile primary cilium assemblyGO:00350589.3FUZ, VANGL2
9folic acid metabolic processGO:00466558.9MTHFD1, MTHFR
10neural tube closureGO:00018438.4FUZ, MTHFD1, T, VANGL2

Sources for Upper Thoracic Spina Bifida Cystica

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet