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

Aliases & Descriptions for Upper Thoracic Spina Bifida Aperta:

Name: Upper Thoracic Spina Bifida Aperta 56

Characteristics:

Orphanet epidemiological data:

56
upper thoracic spina bifida aperta
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA268740

Summaries for Upper Thoracic Spina Bifida Aperta

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/superpathways is One carbon pool by folate. Related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

Related Diseases for Upper Thoracic Spina Bifida Aperta

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

(show all 22)
id Related Disease Score Top Affiliating Genes
1 neural tube defects 10.0 FUZ VANGL1
2 deafness, autosomal recessive 45 10.0 MTHFD1 MTHFR
3 ophthalmia neonatorum 10.0 MTHFD1 MTHFR
4 neurofibroma of the heart 10.0 MTHFD1 MTHFR
5 acute myocardial infarction 9.9 MTHFD1 MTHFR
6 urinary bladder villous adenoma 9.8 VANGL1 VANGL2
7 autosomal dominant sideroblastic anemia 9.3 MTHFD1 MTHFR T VANGL1 VANGL2
8 craniofaciofrontodigital syndrome 9.3 MTHFD1 MTHFR T VANGL1 VANGL2
9 myelocystocele 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
10 posterior meningocele 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
11 pericardial and diaphragmatic defect 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
12 hereditary thrombocytopenia with normal platelets 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
13 thoracolumbosacral spina bifida aperta 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
14 lumbosacral spina bifida aperta 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
15 cervical spina bifida aperta 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
16 mycophenolate mofetil embryopathy 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
17 complication in hemodialysis 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
18 intermediate maple syrup urine disease 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
19 46,xx disorder of sex development-anorectal anomalies syndrome 9.2 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
20 hereditary acrokeratotic poikiloderma, weary type 9.1 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
21 glycogen storage disease due to liver phosphorylase kinase deficiency 9.1 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
22 hmg-coa synthase-2 deficiency 9.1 FUZ 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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.36 T VANGL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.36 T
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.36 T
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 T
7 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.36 T
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 T

MGI Mouse Phenotypes related to Upper Thoracic Spina Bifida Aperta:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 VANGL1 FUZ VANGL2 MTHFD1 T
2 growth/size/body region MP:0005378 9.8 VANGL1 FUZ VANGL2 MTHFD1 MTHFR T
3 embryo MP:0005380 9.77 VANGL1 FUZ VANGL2 MTHFD1 T
4 limbs/digits/tail MP:0005371 9.73 FUZ VANGL2 MTHFD1 MTHFR T VANGL1
5 mortality/aging MP:0010768 9.63 VANGL1 FUZ VANGL2 MTHFD1 MTHFR T
6 nervous system MP:0003631 9.43 FUZ VANGL2 MTHFD1 MTHFR T VANGL1
7 skeleton MP:0005390 9.02 VANGL1 FUZ VANGL2 MTHFR T

Drugs & Therapeutics for Upper Thoracic Spina Bifida Aperta

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

Genetic Tests for Upper Thoracic Spina Bifida Aperta

Anatomical Context for Upper Thoracic Spina Bifida Aperta

Publications for Upper Thoracic Spina Bifida Aperta

Variations for Upper Thoracic Spina Bifida Aperta

Expression for Upper Thoracic Spina Bifida Aperta

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

Pathways for Upper Thoracic Spina Bifida Aperta

GO Terms for Upper Thoracic Spina Bifida Aperta

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

id 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 Aperta according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.76 FUZ T VANGL1 VANGL2
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.49 VANGL1 VANGL2
3 anterior/posterior pattern specification GO:0009952 9.48 T VANGL2
4 non-motile cilium assembly GO:1905515 9.43 FUZ VANGL2
5 hair follicle development GO:0001942 9.4 FUZ VANGL2
6 folic acid metabolic process GO:0046655 9.37 MTHFD1 MTHFR
7 post-anal tail morphogenesis GO:0036342 9.32 T VANGL2
8 establishment of planar polarity GO:0001736 9.26 FUZ VANGL2
9 tetrahydrofolate interconversion GO:0035999 9.16 MTHFD1 MTHFR
10 methionine metabolic process GO:0006555 8.96 MTHFD1 MTHFR
11 neural tube closure GO:0001843 8.92 FUZ MTHFD1 T VANGL2

Sources for Upper Thoracic Spina Bifida Aperta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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