Arrhythmogenic right ventricular dysplasia, familial, 6

General Information (adopted from Orphanet):

Synonyms, Signs: ARVC6
ARVD6
Arrhythmogenic right ventricular cardiomyopathy 6
Number of Symptoms 15
OrphanetNr:
OMIM Id: 604401
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
10631146 [IBIS]
Age of onset: Childhood
Adult
10631146 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated arrhythmogenic right ventricular dysplasia
 -Rare cardiac disease
 -Rare genetic disease

Comment:

ARVC6 is caused by mutation in locus 10p14-p12 (PMID:10631146).

Symptom Information: Sort by abundance 

1
 (HPO:0011713) Left bundle branch block 10631146 IBIS 30 / 7739
2
 (HPO:0004756) Ventricular tachycardia 10631146 IBIS 55 / 7739
3
 (HPO:0012103) Abnormality of the mitochondrion 10631146 IBIS 7 / 7739
4
 (HPO:0001685) Myocardial fibrosis 10631146 IBIS 30 / 7739
5
 (MedDRA:10064195) Right ventricle outflow tract obstruction 10631146 IBIS 4 / 7739
6
 (HPO:0002617) Aneurysm 10631146 IBIS 34 / 7739
7
 (HPO:0100660) Dyskinesia 10631146 IBIS 19 / 7739
8
 (HPO:0005133) Right ventricular dilatation 10631146 IBIS 14 / 7739
9
 (OMIM) Right ventricular hypokinesis (in some patients) 10631146 IBIS 5 / 7739
10
 (HPO:0001279) Syncope 10631146 IBIS 94 / 7739
11
 (HPO:0002094) Dyspnea 10631146 IBIS 132 / 7739
12
 (MedDRA:10058093) Arrhythmogenic right ventricular dysplasia 10631146 IBIS 5 / 7739
13
 (OMIM) Fibro-fatty replacement of right ventricular myocardium. 10631146 IBIS 4 / 7739
14
 (HPO:0001645) Sudden cardiac death 10631146 IBIS 84 / 7739
15
 (HPO:0011663) Right ventricular cardiomyopathy 10631146 IBIS 17 / 7739

Associated genes:

locus AVRD6 (10p14-p12);

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Li et al. (2000) reported a North American family with early-onset arrhythmogenic right ventricular dysplasia (ARVD) and high penetrance. All of the children with the disease haplotype had pathologic or clinical evidence of the disease at under 10 ...
Molecular genetics OMIM Li et al. (2000) investigated the involvement of the PTPLA gene (610467) in the family with ARVD mapped to 10p by Li et al. (2000). A lys64-to-gln missense mutation was identified in all affected members, but was also ...