MCID: LMB057
MIFTS: 18

Lumbosacral Spina Bifida Aperta

Categories: Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lumbosacral Spina Bifida Aperta

MalaCards integrated aliases for Lumbosacral Spina Bifida Aperta:

Name: Lumbosacral Spina Bifida Aperta 58

Characteristics:


Inheritance:

Multigenic/multifactorial 58

Age Of Onset:

Infancy,Neonatal 58

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 neural tube defects, folate-sensitive and isolated anencephaly. An important gene associated with Lumbosacral Spina Bifida Aperta is FUZ (Fuzzy Planar Cell Polarity Protein), and among its related pathways/superpathways are RND3 GTPase cycle and One-carbon metabolism and related pathways. Related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system

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 30)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 9.9 MTHFR MTHFD1
2 isolated anencephaly 9.9 VANGL2 MTHFR
3 isolated exencephaly 9.9 VANGL2 MTHFR
4 choline deficiency disease 9.9 MTHFR MTHFD1
5 childhood acute lymphocytic leukemia 9.9 MTHFR MTHFD1
6 megaloblastic anemia 9.9 MTHFR MTHFD1
7 meningocele 9.8 VANGL1 MTHFR
8 hyperhomocysteinemia 9.8 MTHFR MTHFD1
9 spinal cord lipoma 9.8 VANGL2 VANGL1
10 brachydactyly, type b1 9.7 VANGL2 VANGL1
11 ocular motility disease 9.7 VANGL2 VANGL1
12 robinow syndrome 9.6 VANGL2 VANGL1
13 tethered spinal cord syndrome 9.5 VANGL2 VANGL1 MTHFD1
14 sacral defect with anterior meningocele 9.5 VANGL1 TBXT FUZ
15 congenital nervous system abnormality 9.2 VANGL2 VANGL1 MTHFR
16 spina bifida occulta 9.1 VANGL2 VANGL1 MTHFR MTHFD1 FUZ
17 anencephaly 9.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1
18 total spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
19 cervicothoracic spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
20 cervical spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
21 thoracolumbosacral spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
22 upper thoracic spina bifida aperta 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
23 total spina bifida cystica 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
24 thoracolumbosacral spina bifida cystica 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
25 lumbosacral spina bifida cystica 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
26 cervical spina bifida cystica 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
27 cervicothoracic spina bifida cystica 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
28 upper thoracic spina bifida cystica 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
29 myelomeningocele 8.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
30 neural tube defects 8.8 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:

25 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.44 VANGL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.44 TBXT VANGL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.44 VANGL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.44 TBXT
5 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.44 VANGL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.44 TBXT
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.44 VANGL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.44 TBXT
9 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.44 VANGL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.44 TBXT
11 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.44 VANGL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.44 TBXT

MGI Mouse Phenotypes related to Lumbosacral Spina Bifida Aperta:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.88 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
2 limbs/digits/tail MP:0005371 9.85 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
3 growth/size/body region MP:0005378 9.8 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
4 embryo MP:0005380 9.65 FUZ MTHFD1 TBXT VANGL1 VANGL2
5 cardiovascular system MP:0005385 9.55 FUZ MTHFD1 TBXT VANGL1 VANGL2
6 skeleton MP:0005390 9.35 FUZ MTHFR TBXT VANGL1 VANGL2
7 mortality/aging MP:0010768 9.1 FUZ MTHFD1 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

Articles related to Lumbosacral Spina Bifida Aperta:

# Title Authors PMID Year
1
Chiari type II malformation: a case report and review of literature. 62
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 8.92 VANGL2 VANGL1

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

# Name GO ID Score Top Affiliating Genes
1 non-motile cilium assembly GO:1905515 9.71 VANGL2 FUZ
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.67 VANGL2 VANGL1
3 establishment of planar polarity GO:0001736 9.62 VANGL2 FUZ
4 tetrahydrofolate interconversion GO:0035999 9.56 MTHFR MTHFD1
5 methionine biosynthetic process GO:0009086 9.46 MTHFR MTHFD1
6 multicellular organism development GO:0007275 9.43 VANGL2 VANGL1
7 neural tube closure GO:0001843 9.28 VANGL2 TBXT MTHFR MTHFD1 FUZ
8 methionine metabolic process GO:0006555 9.26 MTHFR MTHFD1

Sources for Lumbosacral Spina Bifida Aperta

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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