MCID: VNT029
MIFTS: 10

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 malady

Genetic diseases, Rare diseases categories
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Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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MalaCards based summary: Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 and has symptoms including An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (calmodulin 1 (phosphorylase kinase, delta)).

Description from OMIM:46 614916

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Ventricular Tachycardia, Catecholaminergic Polymorphic, 4, Aliases & Descriptions:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 46


Classifications:

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


Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Symptoms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Symptoms by clinical synopsis from OMIM:

614916

Clinical features from OMIM:

614916

HPO human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 syncope HP:0001279
3 cardiac arrest HP:0001695
4 vertigo HP:0002321

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Drug clinical trials:

Search ClinicalTrials for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Search NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Animal Models for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 or affiliated genes

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Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

64
id Symbol AA change Variation ID SNP ID
1CALM1p.Asn54IleVAR_069222
2CALM1p.Asn98SerVAR_069223

Clinvar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

6
id Gene Name Type Significance SNP ID Assembly Location
1CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantPathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
2CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantPathogenicrs267607277GRCh37Chr 14, 90870730: 90870730

Expression for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Expression patterns in normal tissues for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4.

Pathways for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Compounds for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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GO Terms for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Products for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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  • Antibodies
  • Proteins
  • Lysates

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 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