Cardiomyopathy, dilated, 1B

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1B
FDC
CMPD1
Cardiomyopathy, familial dilated
cardiomyopathy, familial dilated, 1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 600884
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
7573045 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1B is caused by mutation in locus 9q13-q22 (PMID:7573045).

Symptom Information: Sort by abundance 

1
 (HPO:0006670) Impaired myocardial contractility 7573045 IBIS 9 / 7739
2
 (HPO:0001635) Congestive heart failure 7573045 IBIS 232 / 7739
3
 (HPO:0001644) Dilated cardiomyopathy 7573045 IBIS 141 / 7739
4
 (HPO:0004308) Ventricular arrhythmia 7573045 IBIS 46 / 7739
5
 (OMIM) Left ventricular or biventricular dilatation 7573045 IBIS 1 / 7739

Associated genes:

locus 9q13-q22;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: