Cardiomyopathy, familial restrictive 2

General Information (adopted from Orphanet):

Synonyms, Signs: RCM2
Number of Symptoms 15
OrphanetNr:
OMIM Id: 609578
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
11298680 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated restrictive cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Cardiomyopathy, familial restrictive 2 is caused by mutation in DES (PMID:11298680).

Symptom Information: Sort by abundance 

1
 (OMIM) Atrial dilation (bilateral in some patients Frequent [IBIS] 50% (n=26) 16061566 IBIS 3 / 7739
2
 (OMIM) Atrial fibrillation or flutter 11298680 IBIS 2 / 7739
3
 (MedDRA:10047240) Venous pressure jugular increased 11298680 IBIS 6 / 7739
4
 (HPO:0100300) Desmin bodies 11298680 IBIS 1 / 7739
5
 (HPO:0002202) Pleural effusion 11298680 IBIS 22 / 7739
6
 (HPO:0002094) Dyspnea Frequent [IBIS] 50% (n=26) 16061566 IBIS 132 / 7739
7
 (HPO:0002875) Exertional dyspnea 11298680 IBIS 29 / 7739
8
 (HPO:0012050) Anasarca Frequent [IBIS] 50% (n=26) 16061566 IBIS 4 / 7739
9
 (HPO:0010872) EKG: T-wave inversion 11298680 IBIS 19 / 7739
10
 (HPO:0005150) Abnormal atrioventricular conduction Frequent [IBIS] 50% (n=26) 16061566 IBIS 16 / 7739
11
 (HPO:0004749) Atrial flutter 16061566 IBIS 20 / 7739
12
 (HPO:0005110) Atrial fibrillation Frequent [IBIS] 50% (n=26) 16061566 IBIS 71 / 7739
13
 (HPO:0012249) Abnormal ST segment Frequent [IBIS] 50% (n=26) 16061566 IBIS 3 / 7739
14
 (HPO:0005293) Venous insufficiency Frequent [IBIS] 50% (n=26) 16061566 IBIS 27 / 7739
15
 (HPO:0002240) Hepatomegaly 11298680 IBIS 467 / 7739

Associated genes:

DES;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: