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 54

Characteristics:

Orphanet epidemiological data:

54
upper thoracic spina bifida aperta:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 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 Increased shRNA abundance (Z-score > 2) and hearing/vestibular/ear.

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 & Phenotypes for Upper Thoracic Spina Bifida Aperta

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.4T, VANGL1

MGI Mouse Phenotypes related to Upper Thoracic Spina Bifida Aperta according to GeneCards Suite gene sharing:

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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

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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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
1establishment of planar polarityGO:000173610.2FUZ, VANGL2
2hair follicle developmentGO:000194210.2FUZ, VANGL2
3anterior/posterior pattern specificationGO:000995210.1T, VANGL2
4post-anal tail morphogenesisGO:003634210.0T, VANGL2
5folic acid metabolic processGO:00466559.6MTHFD1, MTHFR
6methionine metabolic processGO:00065559.6MTHFD1, MTHFR
7tetrahydrofolate interconversionGO:00359999.6MTHFD1, MTHFR
8Wnt signaling pathway, planar cell polarity pathwayGO:00600719.5VANGL1, VANGL2
9neural tube closureGO:00018438.8FUZ, MTHFD1, T, VANGL2

Sources for Upper Thoracic Spina Bifida Aperta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet