MCID: VNT025
MIFTS: 15

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 57 75 29 6 73
Cpvt5 57 75
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 5, with or Without Muscle Weakness 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615441
MeSH 44 D017180
SNOMED-CT via HPO 69 258211005 249939004 25569003
UMLS 73 C3809536

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

UniProtKB/Swiss-Prot : 75 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, also known as cpvt5, is related to catecholaminergic polymorphic ventricular tachycardia. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness is TRDN (Triadin). Related phenotypes are proximal muscle weakness and ventricular tachycardia

Description from OMIM: 615441

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

Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 catecholaminergic polymorphic ventricular tachycardia 9.0 LOC105377982 TRDN

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

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 32 HP:0003701
2 ventricular tachycardia 32 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 29 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:

75
# 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.53_56delACAG (p.Asp18Alafs) deletion Pathogenic rs768049331 GRCh37 Chromosome 6, 123892244: 123892247
3 TRDN NM_006073.3(TRDN): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs397515458 GRCh37 Chromosome 6, 123825044: 123825044
4 TRDN NM_006073.3(TRDN): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs397515458 GRCh38 Chromosome 6, 123503899: 123503899
5 TRDN NM_006073.3(TRDN): c.176C> G (p.Thr59Arg) single nucleotide variant Pathogenic rs397515459 GRCh37 Chromosome 6, 123892124: 123892124
6 TRDN NM_006073.3(TRDN): c.176C> G (p.Thr59Arg) single nucleotide variant Pathogenic rs397515459 GRCh38 Chromosome 6, 123570979: 123570979
7 TRDN NM_001251987.1(TRDN): c.568dupA (p.Ile190Asnfs) duplication Pathogenic/Likely pathogenic rs1085307100 GRCh37 Chromosome 6, 123833490: 123833490
8 TRDN NM_001251987.1(TRDN): c.568dupA (p.Ile190Asnfs) duplication Pathogenic/Likely pathogenic rs1085307100 GRCh38 Chromosome 6, 123512345: 123512345

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
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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