MCID: UPP008
MIFTS: 17

Upper Thoracic Spina Bifida Aperta malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Upper Thoracic Spina Bifida Aperta

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Aliases & Descriptions for Upper Thoracic Spina Bifida Aperta:

Name: Upper Thoracic Spina Bifida Aperta 53

Characteristics:

Orphanet epidemiological data:

53
upper thoracic spina bifida aperta:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA268740

Summaries for Upper Thoracic Spina Bifida Aperta

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

Related Diseases for Upper Thoracic Spina Bifida Aperta

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



Diseases related to upper thoracic spina bifida aperta

Symptoms for Upper Thoracic Spina Bifida Aperta

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Drugs & Therapeutics for Upper Thoracic Spina Bifida Aperta

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Interventional clinical trials:

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

Genetic Tests for Upper Thoracic Spina Bifida Aperta

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Anatomical Context for Upper Thoracic Spina Bifida Aperta

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Animal Models for Upper Thoracic Spina Bifida Aperta or affiliated genes

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MGI Mouse Phenotypes related to Upper Thoracic Spina Bifida Aperta:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6FUZ, VANGL1, VANGL2
2MP:00053908.3FUZ, MTHFR, T, VANGL1, VANGL2
3MP:00053808.2FUZ, MTHFD1, T, VANGL1, VANGL2
4MP:00053858.0FUZ, MTHFD1, T, VANGL1, VANGL2
5MP:00053717.5FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
6MP:00107687.4FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
7MP:00053787.4FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
8MP:00036317.4FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2

Publications for Upper Thoracic Spina Bifida Aperta

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Variations for Upper Thoracic Spina Bifida Aperta

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Expression for genes affiliated with Upper Thoracic Spina Bifida Aperta

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

Pathways for genes affiliated with Upper Thoracic Spina Bifida Aperta

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GO Terms for genes affiliated with Upper Thoracic Spina Bifida Aperta

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

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

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1Wnt signaling pathway, planar cell polarity pathwayGO:00600719.7VANGL1, VANGL2
2post-anal tail morphogenesisGO:00363429.7T, VANGL2
3establishment of planar polarityGO:00017369.7FUZ, VANGL2
4anterior/posterior pattern specificationGO:00099529.7T, VANGL2
5methionine metabolic processGO:00065559.7MTHFD1, MTHFR
6hair follicle developmentGO:00019429.5FUZ, VANGL2
7tetrahydrofolate interconversionGO:00359999.5MTHFD1, MTHFR
8folic acid metabolic processGO:00466559.0MTHFD1, MTHFR
9neural tube closureGO:00018438.3FUZ, MTHFD1, T, VANGL2

Sources for Upper Thoracic Spina Bifida Aperta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet