ORPHA:293910

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

Synonyms: Arrhythmogenic cardiomyopathy dominant-right variant · Arrhythmogenic cardiomyopathy with right ventricular involvement · Familial isolated arrhytmogenic ventricular dysplasia, right dominant form

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Status: active

This disease is described under Inherited isolated arrhythmogenic cardiomyopathy

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Arrhythmogenic cardiomyopathy dominant-right variant · Arrhythmogenic cardiomyopathy with right ventricular involvement · Familial isolated arrhytmogenic ventricular dysplasia, right dominant form
fr	Cardiomyopathie arythmogène héréditaire isolée, variante droite-dominante	Cardiomyopathie ventriculaire droite arythmogène familiale · Dysplasie ventriculaire arythmogène familiale isolée avec prédominance à droite,
de	Hereditäre isolierte arrhythmogene Kardiomyopathie, rechtsdominante Form	Arrhythmogene rechtsventrikuläre Kardiomyopathie · Familiäre isolierte arrhythmogene ventrikuläre Dysplasie, rechtsdominante Form · Arrhythmogene Kardiomyopathie mit rechtsventrikulärer Beteiligung
es	Miocardiopatía arritmogénica aislada hereditaria, variante de predominio derecho	Cardiomiopatía arritmogénica aislada hereditaria, variante de predominio derecho · Displasia ventricular arritmogénica aislada familiar, forma de predominio derecho · Miocardiopatía arritmogénica con afectación del ventrículo derecho · Miocardiopatía arritmogénica variante de predominio derecho
it	Cardiomiopatia aritmogena isolata ereditaria con predominanza a destra	Displasia ventricolare aritmogena isolata familiare con predominanza a destra
nl	Erfelijke geïsoleerde aritmogene cardiomyopathie, rechts-dominante variant	Aritmogene cardiomyopathie met betrokkenheid van rechter ventrikel · Aritmogene cardiomyopathie, rechts-dominante variant · Familiale geïsoleerde aritmogene ventrikeldysplasie, rechts-dominante vorm
pt	Cardiomiopatia arritmogénica isolada hereditária, variante dominante à direita	Cardiomiopatia arritmogénica com envolvimento do ventrículo direito · Displasia ventricular arritmogénica familiar isolada, forma dominante direita · Variante dominante direita da cardiomiopatia arritmogénica
pl	Rodzinna izolowana arytmogenna dysplazja komorowa, postać prawa dominująca	Rodzinna izolowana arytmogenna dysplazja komorowa, postać klasyczna · Rodzinna izolowana arytmogenna kardiomiopatia komorowa, postać klasyczna · Rodzinna izolowana arytmogenna kardiomiopatia komorowa, postać prawa dominująca · Wrodzona izolowana kardiomiopatia arytmogenna, wariant z dominującą prawą stroną · Dziedziczna izolowana kardiomiopatia arytmogenna, wariant dominujący prawokomorowy
cs	Familiární izolovaná arytmogenní dysplázie s převahou pravé komory	Familiární izolovaná arytmogenní komorová kardiomyopatie, klasická forma · Familiární izolovaná arytmogenní komorová kardiomyopatie, pravá dominantní forma · Familiární izolovaná arytmogenní komorová dysplázie, klasická forma
uk	Спадкова ізольована аритмогенна кардіоміопатія, домінантно-правий варіант	Сімейна ізольована аритмогенна дисплазія шлуночків, праводомінантна форма
zh	右心型家族性单纯性致心律失常性心室发育不良	右心型家族性孤立性心律失常性室性心肌病
tr	Ailesel izole aritmojenik ventriküler displazi, sağ dominant form	Ailesel izole aritmojenik ventriküler displazi, klasik form · Ailesel izole aritmojenik ventriküler kardiyomiyopati, klasik form · Ailesel izole aritmojenik ventriküler kardiyomiyopati, sağ baskın form

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	107970	NTBT		validated
OMIM	610193	NTBT		validated
OMIM	615616	NTBT		validated
OMIM	617047	NTBT		validated
OMIM	618920	NTBT		validated
ICD-10	I42.8	NTBT	attributed	validated
ICD-11	BC43.6	NTBT	attributed	validated
MONDO	0017403	E		validated
UMLS	C5925015	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97929Rare cardiac disease

Parents in the classifications (1):

ORPHA:217656Inherited isolated arrhythmogenic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders

No children.

Genes

15 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TMEM43	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:28472	ENSG00000170876	612048	3p25.1	transmembrane protein 43	20301310[PMID]
CDH2	Disease-causing germline mutation(s) in	Assessed	HGNC:1759	ENSG00000170558	114020	18q12.1	cadherin 2	28280076[PMID]
CTNNA3	Disease-causing germline mutation(s) in	Assessed	HGNC:2511	ENSG00000183230	607667	10q21.3	catenin alpha 3	23136403[PMID]
DSC2	Disease-causing germline mutation(s) in	Assessed	HGNC:3036	ENSG00000134755	125645	18q12.1	desmocollin 2	20301310[PMID]
DSG2	Disease-causing germline mutation(s) in	Assessed	HGNC:3049	ENSG00000046604	125671	18q12.1	desmoglein 2	20301310[PMID]
DSP	Disease-causing germline mutation(s) in	Assessed	HGNC:3052	ENSG00000096696	125647	6p24.3	desmoplakin	20301310[PMID]
FLNC	Disease-causing germline mutation(s) in	Assessed	HGNC:3756	ENSG00000128591	102565	7q32.1	filamin C	31924696[PMID]
JUP	Disease-causing germline mutation(s) in	Assessed	HGNC:6207	ENSG00000173801	173325	17q21.2	junction plakoglobin	20301310[PMID]
LDB3	Disease-causing germline mutation(s) in	Assessed	HGNC:15710	ENSG00000122367	605906	10q23.2	LIM domain binding 3	25041374[PMID]
LMNA	Disease-causing germline mutation(s) in	Not yet assessed	HGNC:6636	ENSG00000160789	150330	1q22	lamin A/C	23736219[PMID]_22199124[PMID]
PKP2	Disease-causing germline mutation(s) in	Assessed	HGNC:9024	ENSG00000057294	602861	12p11.21	plakophilin 2	20301310[PMID]
PLN	Disease-causing germline mutation(s) in	Assessed	HGNC:9080	ENSG00000198523	172405	6q22.31	phospholamban	25820315[PMID]
TAX1BP3	Disease-causing germline mutation(s) in	Assessed	HGNC:30684			17p13.2	Tax1 binding protein 3	39963794[PMID]
TGFB3	Disease-causing germline mutation(s) in	Assessed	HGNC:11769	ENSG00000119699	190230	14q24.3	transforming growth factor beta 3	20301310[PMID]
TTN	Disease-causing germline mutation(s) in	Assessed	HGNC:12403	ENSG00000155657	188840	2q31.2	titin	21810661[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/293910
This record as JSON: /data/d/293910.json