右心型家族性单纯性致心律失常性心室发育不良

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

ORPHA:293910疾病亚型

别名

右心型家族性孤立性心律失常性室性心肌病

基本事实

遗传方式: 常染色体显性

相关基因 15

基因	名称	关联类型
PKP2	plakophilin 2	Disease-causing germline mutation(s) in
TGFB3	transforming growth factor beta 3	Disease-causing germline mutation(s) in
TTN	titin	Disease-causing germline mutation(s) in
DSC2	desmocollin 2	Disease-causing germline mutation(s) in
DSG2	desmoglein 2	Disease-causing germline mutation(s) in
DSP	desmoplakin	Disease-causing germline mutation(s) in
JUP	junction plakoglobin	Disease-causing germline mutation(s) in
LDB3	LIM domain binding 3	Disease-causing germline mutation(s) in
LMNA	lamin A/C	Disease-causing germline mutation(s) in
TMEM43	transmembrane protein 43	Disease-causing germline mutation(s) (loss of function) in
PLN	phospholamban	Disease-causing germline mutation(s) in
CTNNA3	catenin alpha 3	Disease-causing germline mutation(s) in
CDH2	cadherin 2	Disease-causing germline mutation(s) in
TAX1BP3	Tax1 binding protein 3	Disease-causing germline mutation(s) in
FLNC	filamin C	Disease-causing germline mutation(s) in

外部标识与链接

Orphanet OMIM:107970 OMIM:610193 OMIM:615616 MONDO:0017403ICD-10 I42.8ICD-11 BC43.6ClinicalTrials.gov 检索

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本页数据来源

疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
中文病名：Orphanet 中文包，冻结于 2020-06-01
表型中文标签：HPO 简体中文翻译（CHPO 上游成果）