MCID: UPP008
MIFTS: 18

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 neural tube defects and deafness, autosomal recessive 45. An important gene associated with Upper Thoracic Spina Bifida Aperta is FUZ (Fuzzy Planar Cell Polarity Protein), and among its related pathways is One carbon pool by folate. Related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and embryo.

Related Diseases for Upper Thoracic Spina Bifida Aperta

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Diseases related to Upper Thoracic Spina Bifida Aperta via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects10.0FUZ, VANGL1
2deafness, autosomal recessive 4510.0MTHFD1, MTHFR
3ophthalmia neonatorum10.0MTHFD1, MTHFR
4neurofibroma of the heart10.0MTHFD1, MTHFR
5acute myocardial infarction9.9MTHFD1, MTHFR
6urinary bladder villous adenoma9.8VANGL1, VANGL2
7autosomal dominant sideroblastic anemia9.3MTHFD1, MTHFR, T, VANGL1, VANGL2
8craniofaciofrontodigital syndrome9.3MTHFD1, MTHFR, T, VANGL1, VANGL2
9myelocystocele9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
10posterior meningocele9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
11pericardial and diaphragmatic defect9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
12hereditary thrombocytopenia with normal platelets9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
13thoracolumbosacral spina bifida aperta9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
14lumbosacral spina bifida aperta9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
15cervical spina bifida aperta9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
16mycophenolate mofetil embryopathy9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
17complication in hemodialysis9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
18intermediate maple syrup urine disease9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
1946,xx disorder of sex development-anorectal anomalies syndrome9.2FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
20hereditary acrokeratotic poikiloderma, weary type9.1FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
21glycogen storage disease due to liver phosphorylase kinase deficiency9.1FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
22hmg-coa synthase-2 deficiency9.1FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2

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

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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-1929.3T, VANGL1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.1FUZ, MTHFD1, T, VANGL1, VANGL2
2MP:00053907.9FUZ, MTHFR, T, VANGL1, VANGL2
3MP:00053857.8FUZ, MTHFD1, T, VANGL1, VANGL2
4MP:00053717.4FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
5MP:00107687.3FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
6MP:00053787.3FUZ, MTHFD1, MTHFR, T, VANGL1, VANGL2
7MP:00036317.2FUZ, 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:00163289.1VANGL1, VANGL2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1folic acid metabolic processGO:004665510.2MTHFD1, MTHFR
2methionine metabolic processGO:000655510.2MTHFD1, MTHFR
3tetrahydrofolate interconversionGO:003599910.0MTHFD1, MTHFR
4establishment of planar polarityGO:000173610.0FUZ, VANGL2
5hair follicle developmentGO:000194210.0FUZ, VANGL2
6non-motile cilium assemblyGO:19055159.8FUZ, VANGL2
7anterior/posterior pattern specificationGO:00099529.8T, VANGL2
8post-anal tail morphogenesisGO:00363429.6T, VANGL2
9Wnt signaling pathway, planar cell polarity pathwayGO:00600719.1VANGL1, VANGL2
10neural tube closureGO:00018438.7FUZ, MTHFD1, T, VANGL2
11multicellular organism developmentGO:00072758.7FUZ, T, VANGL1, 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