Arrhythmogenic right ventricular dysplasia, familial, 13

General Information (adopted from Orphanet):

Synonyms, Signs: ARVD13
ARVC13
Arrhythmogenic right ventricular cardiomyopathy 12
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615616
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
23136403 [IBIS]
Age of onset: Adolescent
23136403 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

ARVC13 is caused by mutation in CTNNA3 (PMID:23136403).

Symptom Information: Sort by abundance 

1
 (HPO:0005133) Right ventricular dilatation 23136403 IBIS 14 / 7739
2
 (HPO:0011663) Right ventricular cardiomyopathy 23136403 IBIS 17 / 7739
3
 (HPO:0003115) Abnormal EKG 23136403 IBIS 44 / 7739
4
 (HPO:0005135) EKG: T-wave abnormalities 23136403 IBIS 19 / 7739
5
 (HPO:0003116) Abnormal echocardiogram 23136403 IBIS 33 / 7739
6
 (HPO:0012664) Reduced ejection fraction 23136403 IBIS 32 / 7739
7
 (HPO:0011712) Right bundle branch block 23136403 IBIS 34 / 7739
8
 (HPO:0004756) Ventricular tachycardia 23136403 IBIS 55 / 7739
9
 (HPO:0001678) Atrioventricular block 23136403 IBIS 59 / 7739
10
 (HPO:0011713) Left bundle branch block 23136403 IBIS 30 / 7739
11
 (HPO:0001279) Syncope 23136403 IBIS 94 / 7739
12
 (MedDRA:10014378) Electrocardiogram QRS complex abnormal 23136403 IBIS 2 / 7739
13
 (OMIM) Fibrofatty replacement of right ventricular myocardium 23136403 IBIS 11 / 7739

Associated genes:

CTNNA3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
CTNNA3 rs587777134 pathogenic RCV000087056.3
CTNNA3 rs587777135 pathogenic RCV000087057.3

Additional Information: