MCID: LMB056
MIFTS: 20

Lumbosacral Spina Bifida Cystica

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lumbosacral Spina Bifida Cystica

MalaCards integrated aliases for Lumbosacral Spina Bifida Cystica:

Name: Lumbosacral Spina Bifida Cystica 60

Characteristics:

Orphanet epidemiological data:

60
lumbosacral spina bifida cystica
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 60 ORPHA268758

Summaries for Lumbosacral Spina Bifida Cystica

MalaCards based summary : Lumbosacral Spina Bifida Cystica is related to neural tube defects and neural tube defects, folate-sensitive. An important gene associated with Lumbosacral Spina Bifida Cystica 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 Cystica

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



Diseases related to Lumbosacral Spina Bifida Cystica

Symptoms & Phenotypes for Lumbosacral Spina Bifida Cystica

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

27
# 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 Cystica:

47
# 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 FUZ MTHFD1 TBXT VANGL1 VANGL2
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 Cystica

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

Genetic Tests for Lumbosacral Spina Bifida Cystica

Anatomical Context for Lumbosacral Spina Bifida Cystica

Publications for Lumbosacral Spina Bifida Cystica

Articles related to Lumbosacral Spina Bifida Cystica:

# Title Authors Year
1
Lumbosacral spina bifida cystica with craniovertebral anomalies: report of two cases presenting with neurological disorder in adult life. ( 13642076 )
1959

Variations for Lumbosacral Spina Bifida Cystica

Expression for Lumbosacral Spina Bifida Cystica

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

Pathways for Lumbosacral Spina Bifida Cystica

GO Terms for Lumbosacral Spina Bifida Cystica

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.81 FUZ TBXT VANGL1 VANGL2
2 anterior/posterior pattern specification GO:0009952 9.52 TBXT VANGL2
3 non-motile cilium assembly GO:1905515 9.49 FUZ VANGL2
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.48 VANGL1 VANGL2
5 hair follicle development GO:0001942 9.46 FUZ VANGL2
6 one-carbon metabolic process GO:0006730 9.43 MTHFD1 MTHFR
7 folic acid metabolic process GO:0046655 9.4 MTHFD1 MTHFR
8 post-anal tail morphogenesis GO:0036342 9.37 TBXT VANGL2
9 establishment of planar polarity GO:0001736 9.32 FUZ VANGL2
10 methionine biosynthetic process GO:0009086 9.26 MTHFD1 MTHFR
11 tetrahydrofolate interconversion GO:0035999 9.16 MTHFD1 MTHFR
12 neural tube closure GO:0001843 9.02 FUZ MTHFD1 MTHFR TBXT VANGL2
13 methionine metabolic process GO:0006555 8.96 MTHFD1 MTHFR

Sources for Lumbosacral Spina Bifida Cystica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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