[DEL] Arrhythmogenic right ventricular dysplasia, familial, 1

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 107970
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

This is duplicate of Arrhythmogenic right ventricular dysplasia, familial, 1 (Orphanet:3403, Phenodis:5145).

Symptom Information: Sort by abundance 

1
 (HPO:0000982) Palmoplantar keratoderma 40 / 7739
2
 (HPO:0002224) Woolly hair 26 / 7739
3
 (HPO:0001645) Sudden cardiac death 84 / 7739
4
 (HPO:0001279) Syncope 94 / 7739
5
 (HPO:0006682) Ventricular extrasystoles 25 / 7739
6
 (HPO:0011663) Right ventricular cardiomyopathy 17 / 7739
7
 (HPO:0001657) Prolonged QT interval 33 / 7739
8
 (HPO:0005141) Episodes of ventricular tachycardia 2 / 7739
9
 (HPO:0011712) Right bundle branch block 34 / 7739
10
 (HPO:0011713) Left bundle branch block 30 / 7739
11
 (HPO:0004308) Ventricular arrhythmia 46 / 7739
12
 (HPO:0001707) Abnormality of the right ventricle 7 / 7739
13
 (HPO:0001635) Congestive heart failure 232 / 7739
14
 (HPO:0001962) Palpitations 62 / 7739
15
 (HPO:0001663) Ventricular fibrillation 35 / 7739
16
 (OMIM) Fibrofatty replacement of right ventricular myocardium 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: