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Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 3 | Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
Lungs and breathing | 1 | Dyspnea |
Skin | 1 | Palmoplantar keratoderma |
DSC2 encodes desmocollin 2 (901 aa). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Highest expression in Esophagus Mucosa (113.9 TPM) and Vagina (87.8 TPM).
Arrhythmogenic right ventricular dysplasia 11 is associated with mutations in the DSC2 gene on chromosome 18.
DSC2 is classified as a druggable target with score 4.7.
Genetic testing for DSC2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for arrhythmogenic right ventricular dysplasia 11 has been reported in the published literature.
Phenotype severity distribution: 3 common features.
No clinical trials have been registered for arrhythmogenic right ventricular dysplasia 11.
76 publications have been identified in PubMed for arrhythmogenic right ventricular dysplasia 11. Research spans Epidemiology / Natural History (26%), Basic Science / Preclinical (21%), and Diagnostic / Biomarker (16%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 20 | 26% |
Laboratory research | 16 | 21% |
Testing and diagnosis research | 12 | 16% |
Patient case studies | 10 | 13% |
Clinical study results | 9 | 12% |
Research summaries | 7 | 9% |
New treatment approaches | 2 | 3% |
Liu W (2026). [PMID: 41972041](https://pubmed.ncbi.nlm.nih.gov/41972041/). *Quant Imaging Med Surg*. [Basic Science / Preclinical]
Carrick RT (2026). [PMID: 41317940](https://pubmed.ncbi.nlm.nih.gov/41317940/). *Heart Rhythm*. [Epidemiology / Natural History]
Lousinha A (2026). [PMID: 41581554](https://pubmed.ncbi.nlm.nih.gov/41581554/). *Rev Port Cardiol*. [Epidemiology / Natural History]
Ader F (2026). [PMID: 41540975](https://pubmed.ncbi.nlm.nih.gov/41540975/). *Genet Med Open*. [Basic Science / Preclinical]
Chang CH (2026). [PMID: 41351822](https://pubmed.ncbi.nlm.nih.gov/41351822/). *Vet Rec*. [Epidemiology / Natural History]
Motoji Y (2026). [PMID: 40684400](https://pubmed.ncbi.nlm.nih.gov/40684400/). *Gen Thorac Cardiovasc Surg*. [Clinical Trial Publication]
Li HH (2026). [PMID: 41603024](https://pubmed.ncbi.nlm.nih.gov/41603024/). *Zool Res*. [Basic Science / Preclinical]
Kerkouri F (2026). [PMID: 41416696](https://pubmed.ncbi.nlm.nih.gov/41416696/). *Eur Heart J*. [Epidemiology / Natural History]
Jürgens K (2026). [PMID: 41873591](https://pubmed.ncbi.nlm.nih.gov/41873591/). *Biol Open*. [Basic Science / Preclinical]
Ajufo E (2026). [PMID: 41205222](https://pubmed.ncbi.nlm.nih.gov/41205222/). *JAMA Cardiol*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:50 AM UTC
Online Mendelian Inheritance in Man