MCID: LFT006
MIFTS: 18

Left Ventricular Noncompaction 4 malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Left Ventricular Noncompaction 4

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MalaCards based summary: Left Ventricular Noncompaction 4 is related to paraganglioma. An important gene associated with Left Ventricular Noncompaction 4 is ACTC1 (actin, alpha, cardiac muscle 1), and among its related pathways are Clathrin dependent protein traffic and Cell adhesion Integrin mediated cell adhesion and migration. The compound dexamethasone have been mentioned in the context of this disorder. Related mouse phenotype muscle.

Description from OMIM:46 613424

Aliases & Classifications for Left Ventricular Noncompaction 4

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Left Ventricular Noncompaction 4, Aliases & Descriptions:

Name: Left Ventricular Noncompaction 4 20 22 46 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Related Diseases for Left Ventricular Noncompaction 4

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Diseases in the Left Ventricular Noncompaction 6 family:

Left Ventricular Noncompaction Left Ventricular Noncompaction 5
left ventricular noncompaction 4 Left Ventricular Noncompaction 8
Left Ventricular Noncompaction 2 Left Ventricular Noncompaction 10
Left Ventricular Noncompaction 9 Left Ventricular Noncompaction 7

Diseases related to Left Ventricular Noncompaction 4 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma10.1ACTC1

Symptoms for Left Ventricular Noncompaction 4

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Clinical features from OMIM:

613424

Drugs & Therapeutics for Left Ventricular Noncompaction 4

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Drug clinical trials:

Search ClinicalTrials for Left Ventricular Noncompaction 4

Search NIH Clinical Center for Left Ventricular Noncompaction 4

Genetic Tests for Left Ventricular Noncompaction 4

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Genetic tests related to Left Ventricular Noncompaction 4:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 420 22 ACTC1

Anatomical Context for Left Ventricular Noncompaction 4

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Animal Models for Left Ventricular Noncompaction 4 or affiliated genes

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MGI Mouse Phenotypes related to Left Ventricular Noncompaction 4:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1ACTC1, ACTG1

Publications for Left Ventricular Noncompaction 4

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Variations for Left Ventricular Noncompaction 4

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UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 4:

64
id Symbol AA change Variation ID SNP ID
1ACTC1p.Arg314HisVAR_012860
2ACTC1p.Glu363GlyVAR_012862

Clinvar genetic disease variations for Left Ventricular Noncompaction 4:

6
id Gene Name Type Significance SNP ID Assembly Location
1NM_005159.4(ACTC1): c.941G> A (p.Arg314His)single nucleotide variantPathogenicrs121912673GRCh37Chr 15, 35083364: 35083364
2NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly)single nucleotide variantPathogenicrs121912674GRCh37Chr 15, 35082659: 35082659
3NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)single nucleotide variantPathogenicrs193922680GRCh37Chr 15, 35085599: 35085599

Expression for genes affiliated with Left Ventricular Noncompaction 4

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Expression patterns in normal tissues for genes affiliated with Left Ventricular Noncompaction 4

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Pathways for genes affiliated with Left Ventricular Noncompaction 4

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Pathways related to Left Ventricular Noncompaction 4 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ACTC1, ACTG1
2
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1ACTC1, ACTG1
3
Show member pathways
Calcium Regulation in the Cardiac Cell37
9.1ACTC1, ACTG1
49.1ACTC1, ACTG1
5
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection37
9.1ACTG1, ACTC1
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.1ACTC1, ACTG1
79.1ACTC1, ACTG1
89.1ACTG1, ACTC1
9
Show member pathways
9.1ACTC1, ACTG1
109.1ACTC1, ACTG1

Compounds for genes affiliated with Left Ventricular Noncompaction 4

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 11DrugBank
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Compounds related to Left Ventricular Noncompaction 4 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dexamethasone44 50 28 1112.1ACTC1, ACTG1

GO Terms for genes affiliated with Left Ventricular Noncompaction 4

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Cellular components related to Left Ventricular Noncompaction 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700629.1ACTC1, ACTG1
2blood microparticleGO:0725629.0ACTC1, ACTG1
3extracellular spaceGO:0056158.8ACTC1, ACTG1

Molecular functions related to Left Ventricular Noncompaction 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.1ACTC1, ACTG1

Products for genes affiliated with Left Ventricular Noncompaction 4

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  • Antibodies
  • Proteins
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Sources for Left Ventricular Noncompaction 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet