CPVT5
MCID: VNT025
MIFTS: 15

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

Categories: Genetic diseases

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

Aliases & Descriptions for Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness 54 66 29 69
Cpvt5 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 615441
MeSH 42 D017180

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

UniProtKB/Swiss-Prot : 66 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 ventricular tachycardia, catecholaminergic polymorphic, 1, 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...

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

id Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 1 10.8

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

Symptoms by clinical synopsis from OMIM:

615441

Clinical features from OMIM:

615441

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

32
id 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:

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

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:

66
id 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
id 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

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....