CPVT5
MCID: VNT025
MIFTS: 19

Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness (CPVT5)

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness 57 72 29 6 70
Cpvt5 57 72
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 5, with or Without Muscle Weakness 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
cardiac arrest and sudden death may occur, even in early childhood


HPO:

31
ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615441
OMIM Phenotypic Series 57 PS604772
MeSH 44 D017180
UMLS 70 C3809536

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

UniProtKB/Swiss-Prot : 72 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. Some patients have muscle weakness. CPVT5 inheritance is autosomal recessive.

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness, is also known as cpvt5. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness is TRDN (Triadin). Related phenotypes are syncope and coma

More information from OMIM: 615441 PS604772

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 coma 31 HP:0001259
3 proximal muscle weakness 31 HP:0003701
4 ventricular extrasystoles 31 HP:0006682
5 ventricular tachycardia 31 HP:0004756
6 cardiac arrest 31 HP:0001695
7 shock 31 HP:0031273
8 polymorphic ventricular tachycardia 31 HP:0031677

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
proximal muscle weakness

Cardiovascular Heart:
polymorphic ventricular tachycardia
polymorphic or bidirectional ventricular extrasystoles
exercise-induced syncope

Clinical features from OMIM®:

615441 (Updated 20-May-2021)

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

Search Clinical Trials , NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness:

# Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness 29 TRDN

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness:

# 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. 57 6
22422768 2012

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness:

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.1492G>T (p.Glu498Ter) SNV Pathogenic 1030072 GRCh37: 6:123637620-123637620
GRCh38: 6:123316475-123316475
3 TRDN NM_006073.4(TRDN):c.717del (p.Val240fs) Deletion Pathogenic 1031018 GRCh37: 6:123824940-123824940
GRCh38: 6:123503795-123503795
4 TRDN NM_006073.4(TRDN):c.1051+2T>C SNV Pathogenic 1032404 GRCh37: 6:123759206-123759206
GRCh38: 6:123438061-123438061
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.1870+1G>A SNV Pathogenic 809987 rs377115913 GRCh37: 6:123580768-123580768
GRCh38: 6:123259623-123259623
7 TRDN NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) SNV Pathogenic 838068 GRCh37: 6:123837334-123837334
GRCh38: 6:123516189-123516189
8 TRDN NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) SNV Pathogenic 66016 rs397515458 GRCh37: 6:123825044-123825044
GRCh38: 6:123503899-123503899
9 TRDN NM_006073.4(TRDN):c.53_56del (p.Asp18fs) Deletion Pathogenic 66015 rs768049331 GRCh37: 6:123892244-123892247
GRCh38: 6:123571099-123571102
10 TRDN NM_006073.4(TRDN):c.22+1G>T SNV Pathogenic 915308 GRCh37: 6:123957898-123957898
GRCh38: 6:123636753-123636753
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.1895G>A (p.Arg632Lys) SNV Uncertain significance 426462 rs181571822 GRCh37: 6:123577023-123577023
GRCh38: 6:123255878-123255878
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.284C>T (p.Ala95Val) SNV Uncertain significance 811386 rs764770921 GRCh37: 6:123869706-123869706
GRCh38: 6:123548561-123548561
16 TRDN NM_006073.4(TRDN):c.793+61T>C SNV Likely benign 505274 rs572614305 GRCh37: 6:123824803-123824803
GRCh38: 6:123503658-123503658
17 TRDN NM_006073.4(TRDN):c.1538-13T>G SNV Likely benign 227113 rs55704802 GRCh37: 6:123599505-123599505
GRCh38: 6:123278360-123278360
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

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness:

72
# Symbol AA change Variation ID SNP ID
1 TRDN p.Thr59Arg VAR_067350 rs397515459

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with...

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
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36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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