Arrhythmogenic right ventricular dysplasia, familial, 12

General Information (adopted from Orphanet):

Synonyms, Signs: ARVD12
ARVC12
Arrhythmogenic right ventricular cardiomyopathy 12
Number of Symptoms 15
OrphanetNr:
OMIM Id: 611528
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
17924338 [IBIS]
Age of onset: Adult
17924338 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

ARVC12 is caused by mutation in JUP (PMID:17924338). No cutaneous (skin and hair) abnormalities (PMID:17924338).

Symptom Information: Sort by abundance 

1
 (HPO:0005133) Right ventricular dilatation 17924338 IBIS 14 / 7739
2
 (HPO:0011663) Right ventricular cardiomyopathy 17924338 IBIS 17 / 7739
3
 (HPO:0003115) Abnormal EKG 17924338 IBIS 44 / 7739
4
 (HPO:0010872) EKG: T-wave inversion 17924338 IBIS 19 / 7739
5
 (HPO:0003140) T-wave inversion in the right precordial leads 17924338 IBIS 4 / 7739
6
 (HPO:0006677) Prolonged QRS complex 17924338 IBIS 16 / 7739
7
 (HPO:0003116) Abnormal echocardiogram 17924338 IBIS 33 / 7739
8
 (HPO:0004756) Ventricular tachycardia 17924338 IBIS 55 / 7739
9
 (HPO:0004308) Ventricular arrhythmia 17924338 IBIS 46 / 7739
10
 (HPO:0011713) Left bundle branch block 17924338 IBIS 30 / 7739
11
 (HPO:0001635) Congestive heart failure 23806441 IBIS 232 / 7739
12
 (HPO:0001279) Syncope 17924338 IBIS 94 / 7739
13
 (OMIM) Fibrofatty replacement of right ventricular myocardium 17924338 IBIS 11 / 7739
14
 (OMIM) Normal hair 17924338 IBIS 7 / 7739
15
 (OMIM) Normal skin 17924338 IBIS 5 / 7739

Associated genes:

JUP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
JUP rs113994176 pathogenic RCV000014570.20

Additional Information:

Clinical Description OMIM Asimaki et al. (2007) described a German family in which the father and 3 sons had arrhythmogenic right ventricular cardiomyopathy. The proband experienced syncope at age 39 years. After a documented episode of sustained ventricular tachycardia he was ...
Molecular genetics OMIM In a German family with arrhythmogenic right ventricular cardiomyopathy in a father and 3 sons, Asimaki et al. (2007) identified a novel mutation in the plakoglobin gene, predicted to result in the insertion of an extra serine residue ...