MCID: LMB057
MIFTS: 18

Lumbosacral Spina Bifida Aperta

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lumbosacral Spina Bifida Aperta

MalaCards integrated aliases for Lumbosacral Spina Bifida Aperta:

Name: Lumbosacral Spina Bifida Aperta 58

Characteristics:

Orphanet epidemiological data:

58
lumbosacral spina bifida aperta
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA268388

Summaries for Lumbosacral Spina Bifida Aperta

MalaCards based summary : Lumbosacral Spina Bifida Aperta is related to isolated anencephaly and isolated exencephaly. 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. Affiliated tissues include spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Lumbosacral Spina Bifida Aperta

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 isolated anencephaly 9.9 VANGL2 MTHFR
2 isolated exencephaly 9.9 VANGL2 MTHFR
3 choline deficiency disease 9.9 MTHFR MTHFD1
4 neural tube defects, folate-sensitive 9.8 MTHFR MTHFD1
5 placental abruption 9.7 MTHFR MTHFD1
6 sacral defect with anterior meningocele 9.7 VANGL1 FUZ
7 omphalocele 9.7 MTHFR MTHFD1
8 tethered spinal cord syndrome 9.7 VANGL1 MTHFD1
9 spina bifida occulta 9.6 MTHFR MTHFD1 FUZ
10 brachydactyly, type b1 9.6 VANGL2 VANGL1
11 megaloblastic anemia 9.5 MTHFR MTHFD1
12 ocular motility disease 9.5 VANGL2 VANGL1
13 myelomeningocele 8.9 VANGL2 VANGL1 MTHFR MTHFD1
14 physical disorder 8.9 VANGL2 VANGL1 MTHFR MTHFD1
15 anencephaly 8.5 VANGL2 VANGL1 TBXT MTHFR MTHFD1
16 total spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
17 cervicothoracic spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
18 cervical spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
19 thoracolumbosacral spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
20 upper thoracic spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
21 total spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
22 thoracolumbosacral spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
23 lumbosacral spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
24 cervical spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
25 cervicothoracic spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
26 upper thoracic spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
27 neural tube defects 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ

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 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.4 TBXT VANGL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.4 TBXT
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.4 TBXT
4 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.4 VANGL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.4 VANGL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.4 VANGL1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.4 TBXT
8 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.4 TBXT
9 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 VANGL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.4 VANGL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.4 TBXT

MGI Mouse Phenotypes related to Lumbosacral Spina Bifida Aperta:

45
# 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 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

MalaCards organs/tissues related to Lumbosacral Spina Bifida Aperta:

40
Spinal Cord

Publications for Lumbosacral Spina Bifida Aperta

Articles related to Lumbosacral Spina Bifida Aperta:

# Title Authors PMID Year
1
Chiari type II malformation: a case report and review of literature. 61
16918056 2006

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 VANGL2 VANGL1

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 VANGL2 VANGL1 TBXT FUZ
2 anterior/posterior pattern specification GO:0009952 9.51 VANGL2 TBXT
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.49 VANGL2 VANGL1
4 non-motile cilium assembly GO:1905515 9.46 VANGL2 FUZ
5 hair follicle development GO:0001942 9.43 VANGL2 FUZ
6 folic acid metabolic process GO:0046655 9.4 MTHFR MTHFD1
7 post-anal tail morphogenesis GO:0036342 9.37 VANGL2 TBXT
8 establishment of planar polarity GO:0001736 9.32 VANGL2 FUZ
9 tetrahydrofolate interconversion GO:0035999 9.26 MTHFR MTHFD1
10 methionine biosynthetic process GO:0009086 9.16 MTHFR MTHFD1
11 neural tube closure GO:0001843 9.02 VANGL2 TBXT MTHFR MTHFD1 FUZ
12 methionine metabolic process GO:0006555 8.96 MTHFR MTHFD1

Sources for Lumbosacral Spina Bifida Aperta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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