ORPHA:293888
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Synonyms: ALVC · Arrhythmogenic cardiomyopathy dominant-left variant · Arrhythmogenic cardiomyopathy with left ventricular involvement · Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
This disease is described under Inherited isolated arrhythmogenic cardiomyopathy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | ALVC · Arrhythmogenic cardiomyopathy dominant-left variant · Arrhythmogenic cardiomyopathy with left ventricular involvement · Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form |
| fr | Cardiomyopathie arythmogène héréditaire isolée, variante gauche-dominante | Cardiomyopathie ventriculaire arythmogène familiale isolée avec prédominace à gauche · Dysplasie ventriculaire arythmogène familiale isolée avec prédominance à gauche · ALVC |
| de | Hereditäre isolierte arrhythmogene Kardiomyopathie, linksdominante Form | ALVC · Arrhythmogene Kardiomyopathie mit linksventrikulärer Beteiligung · Arrhythmogene Kardiomyopathie, linksdominante Form · Arrhythmogene linksventrikuläre Kardiomyopathie · Familiäre isolierte arrhythmogene ventrikuläre Dysplasie, linksdominante Form |
| es | Miocardiopatía arritmogénica aislada hereditaria, variante con predominio izquierdo | ALVC · Cardiomiopatía arritmogénica aislada hereditaria, variante con predominio izquierdo · Displasia ventricular arritmogénica aislada familiar, forma con predominio izquierdo · Miocardiopatía arritmogénica con afectación del ventrículo izquierdo · Miocardiopatía arritmogénica variante con predominio izquierdo |
| it | Cardiomiopatia aritmogena isolata familiare con predominanza a sinistra | ALVC · Cardiomiopatia aritmogena con interessamento del ventricolo sinistro · Displasia ventricolare aritmogena isolata familiare, forma con predominanza a sinistra · Variante della cardiomiopatia aritmogena con predominanza a sinistra |
| nl | Erfelijke geïsoleerde aritmogene cardiomyopathie, links-dominante vorm | ALVC · Aritmogene cardiomyopathie met betrokkenheid van linkerventrikel · Aritmogene cardiomyopathie, links-dominante variant · Familiale geïsoleerde aritmogene ventrikeldysplasie, links-dominante vorm |
| pt | Cardiomiopatia arritmogénica isolada hereditária, com predomínio à esquerda | ALVC · Cardiomiopatia arritmogénica com envolvimento ventricular esquerdo · Cardiomiopatia arritmogénica variante com predomínio à esquerda · Displasia ventricular arritmogénica isolada familiar, com predomínio à esquerda · Displasia ventricular arritmogénica isolada familiar, forma biventricular |
| pl | Rodzinna izolowana arytmogenna dysplazja komorowa, postać lewa dominująca | Rodzinna izolowana arytmogenna kardiomiopatia komorowa, postać lewa dominująca · Wrodzona izolowana kardiomiopatia arytmogenna, wariant z dominującą lewą stroną · Dziedziczna izolowana kardiomiopatia arytmogenna, wariant dominujący lewokomorowy |
| cs | Familiární izolovaná arytmogenní dysplázie s převahou levé komory | Familiární izolovaná arytmogenní kardiomyopatie levé komory |
| uk | Спадкова ізольована аритмогенна кардіоміопатія, домінантно-лівий варіант | ALVC · Аритмогенна кардіоміопатія з домінуванням лівого шлуночка · Аритмогенна кардіоміопатія з ураженням лівого шлуночка · Сімейна ізольована аритмогенна дисплазія шлуночків, ліводомінантна форма |
| zh | 左心型家族性孤立性心律失常性心室发育不良 | 左心型家族性孤立性心律失常性室性心肌病 |
| tr | Ailesel izole aritmojenik ventriküler displazi, sol dominant form | Ailesel izole aritmojenik ventriküler kardiyomiyopati, sol baskın form |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 107970 | NTBT | validated | |
| OMIM | 610193 | NTBT | validated | |
| ICD-10 | I42.8 | NTBT | attributed | validated |
| ICD-11 | BC43.6 | NTBT | attributed | validated |
| MONDO | 0017401 | E | validated | |
| UMLS | C5925017 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:217656Inherited isolated arrhythmogenic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
11 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] |
| TTN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12403 | ENSG00000155657 | 188840 | 2q31.2 | titin | 21810661[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] |
| 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] |
| TGFB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11769 | ENSG00000119699 | 190230 | 14q24.3 | transforming growth factor beta 3 | 20301310[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293888
- This record as JSON: /data/d/293888.json