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 neural tube defects, folate-sensitive and placental abruption. 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 cardiovascular system and growth/size/body region

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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 18)

#	Related Disease	Score	Top Affiliating Genes
1	neural tube defects, folate-sensitive	9.9	MTHFR MTHFD1
2	placental abruption	9.8	MTHFR MTHFD1
3	megaloblastic anemia	9.7	MTHFR MTHFD1
4	strabismus	9.2	VANGL2 VANGL1
5	myelomeningocele	8.5	VANGL2 VANGL1 TBXT MTHFR
6	anencephaly	8.1	VANGL2 VANGL1 TBXT MTHFR MTHFD1
7	total spina bifida aperta	7.9	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
8	cervicothoracic spina bifida aperta	7.9	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
9	cervical spina bifida aperta	7.9	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
10	thoracolumbosacral spina bifida aperta	7.9	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
11	upper thoracic spina bifida aperta	7.9	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
12	total spina bifida cystica	7.8	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
13	thoracolumbosacral spina bifida cystica	7.8	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
14	lumbosacral spina bifida cystica	7.8	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
15	cervical spina bifida cystica	7.8	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
16	cervicothoracic spina bifida cystica	7.8	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
17	upper thoracic spina bifida cystica	7.8	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
18	neural tube defects	7.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ

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

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Symptoms & Phenotypes for Lumbosacral Spina Bifida Aperta

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	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

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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

Articles related to Lumbosacral Spina Bifida Aperta:

#	Title	Authors	PMID	Year
1	Chiari type II malformation: a case report and review of literature. ³⁸	Yumer MH...Kalev OK	16918056	2006

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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	MTHFD1	Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1	Protein Coding	25	Susceptibility factor ⁵⁹
3	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	25	Susceptibility factor ⁵⁹
4	TBXT	T-Box Transcription Factor T	Protein Coding	25	Susceptibility factor ⁵⁹
5	VANGL1	VANGL Planar Cell Polarity Protein 1	Protein Coding	25	Susceptibility factor ⁵⁹
6	VANGL2	VANGL Planar Cell Polarity Protein 2	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 and Pharmacokinetics ⁶¹ One Carbon Metabolism ¹ tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate ¹ Trans-sulfuration and one carbon metabolism ¹	10.77	MTHFR MTHFD1

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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	VANGL2 VANGL1

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

(show all 13)

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

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Sources for Lumbosacral Spina Bifida Aperta

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