Arrhythmogenic right ventricular dysplasia, familial, 11

General Information (adopted from Orphanet):

Synonyms, Signs: ARVD11
ARVC11
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair, included
Arrhythmogenic right ventricular cardiomyopathy 11
Number of Symptoms 26
OrphanetNr:
OMIM Id: 610476
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
Autosomal dominant
18957847, 20197793 [IBIS]
Age of onset: Adult
18957847, 20197793 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

ARVD11 is caused by mutaton in DSC2 (PMID:18957847, PMID:20197793).

Symptom Information: Sort by abundance 

1
 (HPO:0005133) Right ventricular dilatation 20197793 IBIS 14 / 7739
2
 (HPO:0011663) Right ventricular cardiomyopathy 20197793 IBIS 17 / 7739
3
 (MedDRA:10071436) Systolic dysfunction 18957847 IBIS 13 / 7739
4
 (HPO:0003115) Abnormal EKG 20197793 IBIS 44 / 7739
5
 (HPO:0005135) EKG: T-wave abnormalities 18957847 IBIS 19 / 7739
6
 (HPO:0010872) EKG: T-wave inversion 18957847 IBIS 19 / 7739
7
 (HPO:0003140) T-wave inversion in the right precordial leads 20197793 IBIS 4 / 7739
8
 (HPO:0003116) Abnormal echocardiogram 20197793 IBIS 33 / 7739
9
 (HPO:0012664) Reduced ejection fraction 18957847 IBIS 32 / 7739
10
 (HPO:0011712) Right bundle branch block 20197793 IBIS 34 / 7739
11
 (HPO:0001962) Palpitations 20197793 IBIS 62 / 7739
12
 (HPO:0004308) Ventricular arrhythmia 20197793 IBIS 46 / 7739
13
 (HPO:0001663) Ventricular fibrillation 20197793 IBIS 35 / 7739
14
 (HPO:0011713) Left bundle branch block 20197793 IBIS 30 / 7739
15
 (HPO:0001695) Cardiac arrest 18957847 IBIS 87 / 7739
16
 (HPO:0001645) Sudden cardiac death 20197793 IBIS 84 / 7739
17
 (HPO:0001279) Syncope 20197793 IBIS 94 / 7739
18
 (HPO:0000972) Palmoplantar hyperkeratosis 18957847 IBIS 41 / 7739
19
 (HPO:0007447) Diffuse palmoplantar hyperkeratosis 18957847 IBIS 8 / 7739
20
 (HPO:0002224) Woolly hair 18957847 IBIS 26 / 7739
21
 (HPO:0000982) Palmoplantar keratoderma 18957847 IBIS 40 / 7739
22
 (MedDRA:10057624) QRS axis abnormal 18957847 IBIS 2 / 7739
23
 (MedDRA:10064195) Right ventricle outflow tract obstruction 18957847 IBIS 4 / 7739
24
 (OMIM) Abnormal precordial tall R waves on EKG 18957847 IBIS 2 / 7739
25
 (OMIM) Fibrofatty replacement of right ventricular myocardium 18957847 IBIS 11 / 7739
26
 (OMIM) Right ventricular hypokinesis (in some patients) 18957847 IBIS 5 / 7739

Associated genes:

DSC2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DSC2 rs142331975 likely pathogenic RCV000155026.1
DSC2 rs397514041 pathogenic RCV000018342.28
DSC2 rs397514043 pathogenic RCV000024331.28
DSC2 rs397517389 likely pathogenic RCV000039401.2
DSC2 rs397517393 likely pathogenic RCV000039409.2
DSC2 rs397517395 likely pathogenic RCV000039415.2
DSC2 rs397517406 likely pathogenic RCV000039442.2
DSC2 rs397517408 likely pathogenic RCV000039448.2

Additional Information:

Clinical Description OMIM Syrris et al. (2006) reported 4 unrelated families with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). Disease penetrance was incomplete; consequently, not all of the patients fulfilled the diagnostic criteria for ARVD/C established by an international task force. The authors ...
Molecular genetics OMIM In affected members of 4 unrelated families with ARVD/C, Syrris et al. (2006) identified 2 different heterozygous mutations in the DSC2 gene (125645.0001 and 125645.0002). Both mutations resulted in frameshifts and premature termination of the desmocollin-2 protein. ...