MCID: LMB057
MIFTS: 19

Lumbosacral Spina Bifida Aperta

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Lumbosacral Spina Bifida Aperta

MalaCards integrated aliases for Lumbosacral Spina Bifida Aperta:

Name: Lumbosacral Spina Bifida Aperta 59

Characteristics:

Orphanet epidemiological data:

59
lumbosacral spina bifida aperta
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA268388

Summaries for Lumbosacral Spina Bifida Aperta

MalaCards based summary : Lumbosacral Spina Bifida Aperta is related to strabismus and neural tube defects, folate-sensitive. An important gene associated with Lumbosacral 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 Increased shRNA abundance (Z-score > 2)

Related Diseases for Lumbosacral Spina Bifida Aperta

Graphical network of the top 20 diseases related to Lumbosacral Spina Bifida Aperta:



Diseases related to Lumbosacral Spina Bifida Aperta

Symptoms & Phenotypes for Lumbosacral Spina Bifida Aperta

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

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

MGI Mouse Phenotypes related to Lumbosacral Spina Bifida Aperta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 FUZ MTHFD1 TBXT VANGL1 VANGL2
2 growth/size/body region MP:0005378 9.8 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
3 embryo MP:0005380 9.77 MTHFD1 TBXT VANGL1 VANGL2 FUZ
4 limbs/digits/tail MP:0005371 9.73 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
5 mortality/aging MP:0010768 9.63 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
6 nervous system MP:0003631 9.43 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
7 skeleton MP:0005390 9.02 FUZ MTHFR TBXT VANGL1 VANGL2

Drugs & Therapeutics for Lumbosacral Spina Bifida Aperta

Search Clinical Trials , NIH Clinical Center for Lumbosacral Spina Bifida Aperta

Genetic Tests for Lumbosacral Spina Bifida Aperta

Anatomical Context for Lumbosacral Spina Bifida Aperta

Publications for Lumbosacral Spina Bifida Aperta

Variations for Lumbosacral Spina Bifida Aperta

Expression for Lumbosacral Spina Bifida Aperta

Search GEO for disease gene expression data for Lumbosacral Spina Bifida Aperta.

Pathways for Lumbosacral Spina Bifida Aperta

GO Terms for Lumbosacral Spina Bifida Aperta

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

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 8.62 VANGL1 VANGL2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.78 FUZ TBXT VANGL1 VANGL2
2 anterior/posterior pattern specification GO:0009952 9.51 TBXT VANGL2
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.49 VANGL1 VANGL2
4 non-motile cilium assembly GO:1905515 9.46 FUZ VANGL2
5 hair follicle development GO:0001942 9.43 FUZ VANGL2
6 one-carbon metabolic process GO:0006730 9.4 MTHFD1 MTHFR
7 folic acid metabolic process GO:0046655 9.37 MTHFD1 MTHFR
8 post-anal tail morphogenesis GO:0036342 9.32 TBXT VANGL2
9 establishment of planar polarity GO:0001736 9.26 FUZ VANGL2
10 tetrahydrofolate interconversion GO:0035999 9.16 MTHFD1 MTHFR
11 methionine metabolic process GO:0006555 8.96 MTHFD1 MTHFR
12 neural tube closure GO:0001843 8.92 FUZ MTHFD1 TBXT VANGL2

Sources for Lumbosacral Spina Bifida Aperta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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