Cardiomyopathy, dilated, 1O

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1O
Cardiomyopathy, dilated, with ventricular tachycardia
Number of Symptoms 4
OrphanetNr:
OMIM Id: 608569
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases - PMID: 15034580 [IBIS]
Inheritance: Monogenic
- PMID: 15034580 [IBIS]
Age of onset: Adult
- PMID: 15034580 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1O is caused by missense and frameshift mutations in ABCC9 (PMID:15034580).

Symptom Information: Sort by abundance 

1
 (HPO:0001635) Congestive heart failure 15034580 IBIS 232 / 7739
2
 (HPO:0004756) Ventricular tachycardia 15034580 IBIS 55 / 7739
3
 (HPO:0006670) Impaired myocardial contractility 15034580 IBIS 9 / 7739
4
 (HPO:0001644) Dilated cardiomyopathy 15034580 IBIS 141 / 7739

Associated genes:

ABCC9;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
ABCC9 rs121909304 pathogenic RCV000008640.2

Additional Information: