Lumbosacral Spina Bifida Aperta disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ ORPHA268388

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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)

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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 19)

#	Related Disease	Score	Top Affiliating Genes
1	strabismus	9.4	VANGL1 VANGL2
2	neural tube defects, folate-sensitive	9.4	MTHFD1 MTHFR
3	placental abruption	9.3	MTHFD1 MTHFR
4	acute lymphoblastic leukemia, childhood	9.2	MTHFD1 MTHFR
5	megaloblastic anemia	9.1	MTHFD1 MTHFR
6	myelomeningocele	7.7	MTHFD1 MTHFR TBXT VANGL1 VANGL2
7	anencephaly	7.7	MTHFD1 MTHFR TBXT VANGL1 VANGL2
8	upper thoracic spina bifida cystica	7.4	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
9	cervicothoracic spina bifida cystica	7.3	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
10	cervical spina bifida cystica	7.3	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
11	lumbosacral spina bifida cystica	7.3	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
12	thoracolumbosacral spina bifida cystica	7.3	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
13	total spina bifida cystica	7.3	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
14	upper thoracic spina bifida aperta	7.3	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
15	thoracolumbosacral spina bifida aperta	7.3	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
16	cervical spina bifida aperta	7.3	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
17	cervicothoracic spina bifida aperta	7.2	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
18	total spina bifida aperta	7.2	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
19	neural tube defects	7.1	FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2

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

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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

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Drugs & Therapeutics for Lumbosacral Spina Bifida Aperta

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

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Genetic Tests for Lumbosacral Spina Bifida Aperta

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Anatomical Context for Lumbosacral Spina Bifida Aperta

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Publications for Lumbosacral Spina Bifida Aperta

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Genes for Lumbosacral Spina Bifida Aperta

Genes related to Lumbosacral Spina Bifida Aperta (6 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FUZ	Fuzzy Planar Cell Polarity Protein	Protein Coding	350	Causative germline mutation ⁵⁹
2	VANGL2	VANGL Planar Cell Polarity Protein 2	Protein Coding	25	Susceptibility factor ⁵⁹
3	VANGL1	VANGL Planar Cell Polarity Protein 1	Protein Coding	25	Susceptibility factor ⁵⁹
4	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	25	Susceptibility factor ⁵⁹
5	MTHFD1	Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1	Protein Coding	25	Susceptibility factor ⁵⁹
6	TBXT	T-Box Transcription Factor T	Protein Coding	25	Susceptibility factor ⁵⁹

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Variations for Lumbosacral Spina Bifida Aperta

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Expression for Lumbosacral Spina Bifida Aperta

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

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Pathways for Lumbosacral Spina Bifida Aperta

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

#	Super pathways	Score	Top Affiliating Genes
1	One carbon pool by folate ³⁷ Show member pathways Antimetabolite Pathway - Folate Cycle, Pharmacodynamics ⁶¹ dTMP de novo biosynthesis (mitochondrial) ¹ folate transformations I ¹ Methionine metabolism ²² methionine salvage ¹ Methotrexate Pathway (Cancer Cell), Pharmacodynamics ⁶¹ One Carbon Metabolism ¹ tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate ¹ Trans-sulfuration and one carbon metabolism ¹	10.77	MTHFD1 MTHFR

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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

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Sources for Lumbosacral Spina Bifida Aperta

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia