← Назад

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ORPHA:293888Clinical subtypeAutosomal dominant

Ассоциированные гены (12)

PKP2
plakophilin 2
Disease-causing germline mutation(s) in
OMIM: 602861
DSC2
desmocollin 2
Disease-causing germline mutation(s) in
OMIM: 125645
TTN
titin
Disease-causing germline mutation(s) (loss of function) in
OMIM: 188840
TMEM43
transmembrane protein 43
Disease-causing germline mutation(s) (loss of function) in
OMIM: 612048
RYR2
ryanodine receptor 2
Disease-causing germline mutation(s) in
OMIM: 180902
TGFB3
transforming growth factor beta 3
Disease-causing germline mutation(s) in
OMIM: 190230
DSG2
desmoglein 2
Disease-causing germline mutation(s) in
OMIM: 125671
DSP
desmoplakin
Disease-causing germline mutation(s) in
OMIM: 125647
JUP
junction plakoglobin
Disease-causing germline mutation(s) in
OMIM: 173325
LDB3
LIM domain binding 3
Disease-causing germline mutation(s) in
OMIM: 605906
LMNA
lamin A/C
Disease-causing germline mutation(s) in
OMIM: 150330
CTNNA3
catenin alpha 3
Disease-causing germline mutation(s) in
OMIM: 607667

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы