Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
ORPHA:293910Clinical subtypeAutosomal dominant
Ассоциированные гены14
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TTN | titin | Disease-causing germline mutation(s) in | gene with protein product | 188840 |
| PKP2 | plakophilin 2 | Disease-causing germline mutation(s) in | gene with protein product | 602861 |
| RYR2 | ryanodine receptor 2 | Disease-causing germline mutation(s) in | gene with protein product | 180902 |
| TGFB3 | transforming growth factor beta 3 | Disease-causing germline mutation(s) in | gene with protein product | 190230 |
| DSC2 | desmocollin 2 | Disease-causing germline mutation(s) in | gene with protein product | 125645 |
| DSG2 | desmoglein 2 | Disease-causing germline mutation(s) in | gene with protein product | 125671 |
| DSP | desmoplakin | Disease-causing germline mutation(s) in | gene with protein product | 125647 |
| JUP | junction plakoglobin | Disease-causing germline mutation(s) in | gene with protein product | 173325 |
| LDB3 | LIM domain binding 3 | Disease-causing germline mutation(s) in | gene with protein product | 605906 |
| LMNA | lamin A/C | Disease-causing germline mutation(s) in | gene with protein product | 150330 |
| TMEM43 | transmembrane protein 43 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 612048 |
| CTNNA3 | catenin alpha 3 | Disease-causing germline mutation(s) in | gene with protein product | 607667 |
| PLN | phospholamban | Disease-causing germline mutation(s) in | gene with protein product | 172405 |
| CDH2 | cadherin 2 | Disease-causing germline mutation(s) in | gene with protein product | 114020 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)