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 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁸ ORPHA268388

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Summaries for Lumbosacral Spina Bifida Aperta

MalaCards based summary : Lumbosacral Spina Bifida Aperta is related to choline deficiency disease and cutis laxa, autosomal dominant 3. 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 32)

#	Related Disease	Score	Top Affiliating Genes
1	choline deficiency disease	10.0	MTHFR MTHFD1
2	cutis laxa, autosomal dominant 3	10.0	MTHFR MTHFD1
3	isolated anencephaly	10.0	VANGL2 MTHFR
4	isolated exencephaly	10.0	VANGL2 MTHFR
5	cutis laxa, autosomal dominant 2	10.0	MTHFR MTHFD1
6	neural tube defects, folate-sensitive	9.9	MTHFR MTHFD1
7	placental abruption	9.9	MTHFR MTHFD1
8	meningocele	9.9	VANGL1 FUZ
9	omphalocele	9.9	MTHFR MTHFD1
10	megaloblastic anemia	9.8	MTHFR MTHFD1
11	tethered spinal cord syndrome	9.8	VANGL1 MTHFD1
12	sacral defect with anterior meningocele	9.8	VANGL1 FUZ
13	brachydactyly, type b1	9.8	VANGL2 VANGL1
14	ocular motility disease	9.7	VANGL2 VANGL1
15	childhood acute lymphocytic leukemia	9.7	MTHFR MTHFD1
16	clubfoot	9.6	VANGL1 MTHFR
17	physical disorder	9.3	VANGL2 VANGL1 MTHFR MTHFD1
18	spina bifida occulta	9.1	VANGL2 VANGL1 MTHFR MTHFD1 FUZ
19	myelomeningocele	8.9	VANGL2 VANGL1 TBXT MTHFR MTHFD1
20	anencephaly	8.9	VANGL2 VANGL1 TBXT MTHFR MTHFD1
21	total spina bifida aperta	8.8	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
22	cervicothoracic spina bifida aperta	8.8	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
23	cervical spina bifida aperta	8.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
24	thoracolumbosacral spina bifida aperta	8.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
25	upper thoracic spina bifida aperta	8.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
26	total spina bifida cystica	8.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
27	thoracolumbosacral spina bifida cystica	8.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
28	lumbosacral spina bifida cystica	8.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
29	cervical spina bifida cystica	8.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
30	cervicothoracic spina bifida cystica	8.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
31	upper thoracic spina bifida cystica	8.7	VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
32	neural tube defects	8.7	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

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

²⁶ (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:

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. ⁶¹	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 ⁵⁸
2	MTHFD1	Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1	Protein Coding	25	Susceptibility factor ⁵⁸
3	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	25	Susceptibility factor ⁵⁸
4	TBXT	T-Box Transcription Factor T	Protein Coding	25	Susceptibility factor ⁵⁸
5	VANGL1	VANGL Planar Cell Polarity Protein 1	Protein Coding	25	Susceptibility factor ⁵⁸
6	VANGL2	VANGL Planar Cell Polarity Protein 2	Protein Coding	25	Susceptibility factor ⁵⁸

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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 ³⁶ Show member pathways Antimetabolite Pathway - Folate Cycle, Pharmacodynamics ⁶⁰ dTMP de novo biosynthesis (mitochondrial) ¹ folate transformations I ¹ Methionine metabolism ²³ methionine salvage ¹ Methotrexate Pathway (Cancer Cell), Pharmacodynamics and Pharmacokinetics ⁶⁰ One Carbon Metabolism ¹ tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate ¹ Trans-sulfuration and one carbon metabolism ¹	10.78	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:

#	Name	GO ID	Score	Top Affiliating Genes
1	multicellular organism development	GO:0007275	9.73	VANGL2 VANGL1 TBXT FUZ
2	Wnt signaling pathway, planar cell polarity pathway	GO:0060071	9.46	VANGL2 VANGL1
3	non-motile cilium assembly	GO:1905515	9.4	VANGL2 FUZ
4	folic acid metabolic process	GO:0046655	9.37	MTHFR MTHFD1
5	establishment of planar polarity	GO:0001736	9.32	VANGL2 FUZ
6	methionine biosynthetic process	GO:0009086	9.26	MTHFR MTHFD1
7	tetrahydrofolate interconversion	GO:0035999	9.16	MTHFR MTHFD1
8	neural tube closure	GO:0001843	9.02	VANGL2 TBXT MTHFR MTHFD1 FUZ
9	methionine metabolic process	GO:0006555	8.96	MTHFR MTHFD1

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Sources for Lumbosacral Spina Bifida Aperta

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

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⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia