MCID: LFT006
MIFTS: 11

Left Ventricular Noncompaction 4 malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Left Ventricular Noncompaction 4

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Sources:
48OMIM, 34MalaCards
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MalaCards: Left Ventricular Noncompaction 4 An important gene associated with Left Ventricular Noncompaction 4 is ACTC1 (actin, alpha, cardiac muscle 1).

Description from OMIM:48 613424

Aliases & Classifications for Left Ventricular Noncompaction 4

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

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


Aliases & Descriptions:

left ventricular noncompaction 4 21 23 48 63


Related Diseases for Left Ventricular Noncompaction 4

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Symptoms for Left Ventricular Noncompaction 4

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Sources:
48OMIM
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Clinical features from OMIM:

613424

Drugs & Therapeutics for Left Ventricular Noncompaction 4

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Left Ventricular Noncompaction 4

Drug clinical trials:

Search ClinicalTrials for Left Ventricular Noncompaction 4

Search NIH Clinical Center for Left Ventricular Noncompaction 4

Search CenterWatch for Left Ventricular Noncompaction 4

Genetic Tests for Left Ventricular Noncompaction 4

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21GeneTests, 23GTR
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Genetic tests related to Left Ventricular Noncompaction 4:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 421 23 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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Publications for Left Ventricular Noncompaction 4

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Variations for Left Ventricular Noncompaction 4

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 4:

65
id Symbol AA change Variation ID SNP ID
1ACTC1p.Arg314HisVAR_012860
2ACTC1p.Glu363GlyVAR_012862

Clinvar genetic disease variations for Left Ventricular Noncompaction 4:

1
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Left Ventricular Noncompaction 4

Search GEO for disease gene expression data for Left Ventricular Noncompaction 4.

Pathways for genes affiliated with Left Ventricular Noncompaction 4

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Compounds for genes affiliated with Left Ventricular Noncompaction 4

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GO Terms for genes affiliated with Left Ventricular Noncompaction 4

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Products for genes affiliated with Left Ventricular Noncompaction 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Left Ventricular Noncompaction 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet