CVPT5
MCID: CTC003
MIFTS: 14

Catecholaminergic Polymorphic Ventricular Tachycardia 5 (CVPT5)

Categories: Cancer diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia 5

MalaCards integrated aliases for Catecholaminergic Polymorphic Ventricular Tachycardia 5:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 5 12
Ventricular Tachycardia, Catecholaminergic Polymorphic, 5 6
Cvpt5 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060679
ICD10 32 I47.2

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia 5

Disease Ontology : 12 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has material basis in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22.

MalaCards based summary : Catecholaminergic Polymorphic Ventricular Tachycardia 5, also known as ventricular tachycardia, catecholaminergic polymorphic, 5, is related to ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia 5 is TRDN (Triadin). Affiliated tissues include heart.

Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia 5

Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 Catecholaminergic Polymorphic Ventricular Tachycardia 5

Diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 12.0

Symptoms & Phenotypes for Catecholaminergic Polymorphic Ventricular Tachycardia 5

Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia 5

Search Clinical Trials , NIH Clinical Center for Catecholaminergic Polymorphic Ventricular Tachycardia 5

Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia 5

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia 5

MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia 5:

40
Heart

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia 5

Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia 5:

# Title Authors PMID Year
1
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. 6
22422768 2012
2
Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. 61
15998675 2005

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia 5

ClinVar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia 5:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRDN NM_006073.4(TRDN):c.176C>G (p.Thr59Arg) SNV Pathogenic 66017 rs397515459 GRCh37: 6:123892124-123892124
GRCh38: 6:123570979-123570979
2 TRDN NM_006073.4(TRDN):c.22+1G>T SNV Pathogenic 915308 GRCh37: 6:123957898-123957898
GRCh38: 6:123636753-123636753
3 TRDN NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) SNV Pathogenic 66016 rs397515458 GRCh37: 6:123825044-123825044
GRCh38: 6:123503899-123503899
4 TRDN NM_006073.4(TRDN):c.53_56del (p.Asp18fs) Deletion Pathogenic 66015 rs768049331 GRCh37: 6:123892244-123892247
GRCh38: 6:123571099-123571102
5 TRDN NM_006073.4(TRDN):c.1187-2A>G SNV Pathogenic 561136 rs578024729 GRCh37: 6:123699045-123699045
GRCh38: 6:123377900-123377900
6 TRDN NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter) SNV Pathogenic 1030072 GRCh37: 6:123637620-123637620
GRCh38: 6:123316475-123316475
7 TRDN NM_006073.4(TRDN):c.717del (p.Val240fs) Deletion Pathogenic 1031018 GRCh37: 6:123824940-123824940
GRCh38: 6:123503795-123503795
8 TRDN NM_006073.4(TRDN):c.1051+2T>C SNV Pathogenic 1032404 GRCh37: 6:123759206-123759206
GRCh38: 6:123438061-123438061
9 TRDN NM_006073.4(TRDN):c.1870+1G>A SNV Pathogenic 809987 rs377115913 GRCh37: 6:123580768-123580768
GRCh38: 6:123259623-123259623
10 TRDN NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) SNV Pathogenic 838068 GRCh37: 6:123837334-123837334
GRCh38: 6:123516189-123516189
11 TRDN NM_006073.4(TRDN):c.568dup (p.Ile190fs) Duplication Likely pathogenic 225497 rs1085307100 GRCh37: 6:123833489-123833490
GRCh38: 6:123512344-123512345
12 TRDN NM_006073.4(TRDN):c.1990G>A (p.Val664Ile) SNV Uncertain significance 994234 GRCh37: 6:123545262-123545262
GRCh38: 6:123224117-123224117
13 TRDN NM_006073.4(TRDN):c.284C>T (p.Ala95Val) SNV Uncertain significance 811386 rs764770921 GRCh37: 6:123869706-123869706
GRCh38: 6:123548561-123548561
14 TRDN NM_006073.4(TRDN):c.1671A>G (p.Pro557=) SNV Uncertain significance 1032405 GRCh37: 6:123594110-123594110
GRCh38: 6:123272965-123272965
15 TRDN NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) SNV Uncertain significance 426462 rs181571822 GRCh37: 6:123577023-123577023
GRCh38: 6:123255878-123255878
16 TRDN NM_006073.4(TRDN):c.1538-13T>G SNV Likely benign 227113 rs55704802 GRCh37: 6:123599505-123599505
GRCh38: 6:123278360-123278360
17 TRDN NM_006073.4(TRDN):c.793+61T>C SNV Likely benign 505274 rs572614305 GRCh37: 6:123824803-123824803
GRCh38: 6:123503658-123503658
18 TRDN NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) SNV Benign 227110 rs2873479 GRCh37: 6:123687288-123687288
GRCh38: 6:123366143-123366143
19 TRDN NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) SNV Benign 227115 rs7771303 GRCh37: 6:123594486-123594486
GRCh38: 6:123273341-123273341
20 TRDN NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) SNV Benign 227102 rs35766971 GRCh37: 6:123759243-123759243
GRCh38: 6:123438098-123438098
21 TRDN NM_006073.4(TRDN):c.497_502AAAAAG[1] (p.166_167EK[1]) Microsatellite Benign 227122 rs148596612 GRCh37: 6:123837328-123837333
GRCh38: 6:123516183-123516188
22 TRDN NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) SNV Benign 227109 rs2873479 GRCh37: 6:123687288-123687288
GRCh38: 6:123366143-123366143
23 TRDN NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr) SNV Benign 227104 rs35047281 GRCh37: 6:123714778-123714778
GRCh38: 6:123393633-123393633
24 TRDN NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) SNV Benign 227120 rs192289289 GRCh37: 6:123868506-123868506
GRCh38: 6:123547361-123547361

Expression for Catecholaminergic Polymorphic Ventricular Tachycardia 5

Search GEO for disease gene expression data for Catecholaminergic Polymorphic Ventricular Tachycardia 5.

Pathways for Catecholaminergic Polymorphic Ventricular Tachycardia 5

GO Terms for Catecholaminergic Polymorphic Ventricular Tachycardia 5

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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