MCID: VNT010
MIFTS: 10

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 malady

Genetic diseases, Rare diseases categories
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Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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MalaCards based summary: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 and has symptoms including An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 is CASQ2 (calsequestrin 2 (cardiac muscle)).

Description from OMIM:46 611938

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Ventricular Tachycardia, Catecholaminergic Polymorphic, 2, Aliases & Descriptions:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 46


Classifications:

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


Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Symptoms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Symptoms by clinical synopsis from OMIM:

611938

Clinical features from OMIM:

611938

HPO human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 seizures HP:0001250
3 syncope HP:0001279

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Drug clinical trials:

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Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Animal Models for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 or affiliated genes

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Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

64
id Symbol AA change Variation ID SNP ID
1CASQ2p.Asp307HisVAR_016075
2CASQ2p.Leu167HisVAR_044118
3CASQ2p.Arg33GlnVAR_055234

Clinvar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

6
id Gene Name Type Significance SNP ID Assembly Location
1CASQ2NM_001232.3(CASQ2): c.919G> C (p.Asp307His)single nucleotide variantPathogenicrs121434549GRCh37Chr 1, 116247833: 116247833
2CASQ2CASQ2, 16-BP DEL, NT339deletionPathogenic
3CASQ2NM_001232.3(CASQ2): c.500T> A (p.Leu167His)single nucleotide variantPathogenicrs121434550GRCh37Chr 1, 116280877: 116280877
4CASQ2NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs)deletionPathogenicrs397507555GRCh37Chr 1, 116311101: 116311101
5CASQ2NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter)single nucleotide variantPathogenicrs397507556GRCh37Chr 1, 116311066: 116311066

Expression for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Expression patterns in normal tissues for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2.

Pathways for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Compounds for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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GO Terms for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Products for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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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