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Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.
Features include always present findings: Ventricular arrhythmia; and common findings: Epsilon wave, Prolonged PR interval, Premature ventricular contraction, and Palpitations and others. 13 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 7 | Complete right bundle branch block, Right ventricular cardiomyopathy, Premature ventricular contraction |
Lab test results | 2 | Increased circulating troponin I concentration, Increased circulating creatine kinase MB isoform |
DSG2 encodes desmoglein 2 (1,118 aa). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Highest expression in Minor Salivary Gland (42.9 TPM) and Colon Transverse (37.5 TPM).
Arrhythmogenic right ventricular dysplasia 10 is associated with mutations in the DSG2 gene on chromosome 18.
DSG2 is classified as a druggable target (Cell Surface category) with score 0.0.
Genetic testing for DSG2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for arrhythmogenic right ventricular dysplasia 10 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 5 common features.
No clinical trials have been registered for arrhythmogenic right ventricular dysplasia 10.
69 publications have been identified in PubMed for arrhythmogenic right ventricular dysplasia 10. Research spans Epidemiology / Natural History (26%), Basic Science / Preclinical (19%), and Diagnostic / Biomarker (13%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 18 | 26% |
Laboratory research | 13 | 19% |
Testing and diagnosis research | 9 | 13% |
Patient case studies | 9 | 13% |
Clinical study results | 9 | 13% |
Research summaries | 6 | 9% |
New treatment approaches | 4 | 6% |
Other research | 1 | 1% |
Lin CY (2026). [PMID: 40651586](https://pubmed.ncbi.nlm.nih.gov/40651586/). *Heart Rhythm*. [Basic Science / Preclinical]
Martini M (2026). [PMID: 41067474](https://pubmed.ncbi.nlm.nih.gov/41067474/). *Heart Rhythm*. [Diagnostic / Biomarker]
Ariyaratne GHDN (2026). [PMID: 42193878](https://pubmed.ncbi.nlm.nih.gov/42193878/). *Cells*. [Review / Meta-Analysis]
Zhang J (2026). [PMID: 41582809](https://pubmed.ncbi.nlm.nih.gov/41582809/). *Circ Heart Fail*. [Gene Therapy / Novel Therapeutics]
Carrick RT (2026). [PMID: 41317940](https://pubmed.ncbi.nlm.nih.gov/41317940/). *Heart Rhythm*. [Epidemiology / Natural History]
Fu B (2026). [PMID: 41662985](https://pubmed.ncbi.nlm.nih.gov/41662985/). *Heart Rhythm*. [Epidemiology / Natural History]
Donati TG (2026). [PMID: 41342822](https://pubmed.ncbi.nlm.nih.gov/41342822/). *JACC Cardiovasc Imaging*. [Diagnostic / Biomarker]
Park BE (2026). [PMID: 41918562](https://pubmed.ncbi.nlm.nih.gov/41918562/). *Front Cardiovasc Med*. [Case Report / Case Series]
Chang CH (2026). [PMID: 41351822](https://pubmed.ncbi.nlm.nih.gov/41351822/). *Vet Rec*. [Epidemiology / Natural History]
Cheng X (2026). [PMID: 41790641](https://pubmed.ncbi.nlm.nih.gov/41790641/). *Medicine (Baltimore)*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC
Online Mendelian Inheritance in Man