MCID: VNT025
MIFTS: 13

Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness

Categories: Genetic 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 53 71 28 69
Cpvt5 53 71

Characteristics:

OMIM:

53
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 53 615441
MeSH 41 D017180
SNOMED-CT via HPO 65 258211005 249939004 25569003
UMLS 69 C3809536

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

UniProtKB/Swiss-Prot : 71 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, and has symptoms including proximal muscle weakness and ventricular tachycardia. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness is TRDN (Triadin).

Description from OMIM: 615441

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

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

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
polymorphic or bidirectional ventricular extrasystoles
polymorphic ventricular tachycardia
exercise-induced syncope

Muscle Soft Tissue:
proximal muscle weakness


Clinical features from OMIM:

615441

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

31
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 31 HP:0003701
2 ventricular tachycardia 31 HP:0004756

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 28 TRDN

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

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

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

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

71
# Symbol AA change Variation ID SNP ID
1 TRDN p.Thr59Arg VAR_067350 rs397515459

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRDN NM_006073.3(TRDN): c.53_56delACAG (p.Asp18Alafs) deletion Pathogenic rs768049331 GRCh38 Chromosome 6, 123571099: 123571102
2 TRDN NM_006073.3(TRDN): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs397515458 GRCh37 Chromosome 6, 123825044: 123825044
3 TRDN NM_006073.3(TRDN): c.176C> G (p.Thr59Arg) single nucleotide variant Pathogenic rs397515459 GRCh37 Chromosome 6, 123892124: 123892124
4 TRDN NM_001251987.1(TRDN): c.568dupA (p.Ile190Asnfs) duplication Likely pathogenic GRCh37 Chromosome 6, 123833490: 123833490

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....