ORPHA:293899
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Synonyms: Familial isolated arrhythmogenic ventricular dysplasia, biventricular 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 ventricular dysplasia, biventricular variant | Familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
| fr | Cardiomyopathie ventriculaire arythmogène héréditaire isolée, variante biventriculaire | Dysplasie ventriculaire arythmogène familiale isolée, forme biventriculaire |
| de | Hereditäre isolierte arrhythmogene Kardiomyopathie, biventrikuläre Form | Biventrikuläre arrhythmogene Kardiomyopathie · Familiäre isolierte arrhythmogene ventrikuläre Dysplasie, biventrikuläre Form |
| es | Displasia ventricular arritmogénica aislada hereditaria, variante biventricular | Displasia ventricular arritmogénica aislada familiar, forma biventricular |
| it | Displasia ventricolare aritmogena isolata ereditaria, forma biventricolare | Cardiomiopatia ventricolare aritmogena isolata familiare, forma biventricolare |
| nl | Erfelijke geïsoleerde aritmogene ventrikeldysplasie, biventriculaire variant | Familiale geïsoleerde aritmogene ventrikeldysplasie, biventriculaire vorm |
| pt | Displasia ventricular arritmogénica isolada familiar, forma biventricular | Displasia ventricular arritmogénica isolada hereditária, variante biventricular |
| pl | Rodzinna izolowana arytmogenna dysplazja komorowa, postać dwukomorowa | Rodzinna izolowana arytmogenna kardiomiopatia komorowa, postać dwukomorowa · Wrodzona izolowana arytmogenna dysplazja komorowa, wariant dwukomorowy · Dziedziczna izolowana kardiomiopatia arytmogenna, wariant dominujący dwukomorowy |
| cs | Familiární izolovaná arytmogenní dysplázie, biventrikulární forma | Familiární izolovaná arytmogenní komorová kardiomyopatie, biventrikulární forma |
| uk | Спадкова ізольована аритмогенна дисплазія шлуночків, бівентрикулярний варіант | Сімейна ізольована аритмогенна дисплазія шлуночків, бівентрикулярна форма |
| zh | 双心型家族性单纯性致心律失常性心室发育不良 | 双心型家族性单纯性致心律失常性室性心肌病 |
| tr | Ailesel izole aritmojenik ventriküler displazi, biventriküler form | Ailesel izole aritmojenik ventriküler kardiyomiyopati, biventriküler 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 | 0017402 | E | validated | |
| UMLS | C5925016 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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/293899
- This record as JSON: /data/d/293899.json