Cardiomyopathy, dilated, 1Q

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1Q
Number of Symptoms 6
OrphanetNr:
OMIM Id: 609915
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
16228230 [IBIS]
Age of onset: Adult
16228230 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1Q is caused by mutation in locus 7q22.3-31.1 (PMID:16228230).

Symptom Information: Sort by abundance 

1
 (HPO:0100598) Pulmonary edema 16228230 IBIS 17 / 7739
2
 (HPO:0002094) Dyspnea 16228230 IBIS 132 / 7739
3
 (HPO:0001644) Dilated cardiomyopathy 16228230 IBIS 141 / 7739
4
 (HPO:0001685) Myocardial fibrosis 16228230 IBIS 30 / 7739
5
 (HPO:0001635) Congestive heart failure 16228230 IBIS 232 / 7739
6
 (OMIM) Fractional shortening less than 25% (more common in male patients) 16228230 IBIS 3 / 7739

Associated genes:

locus 7q22.3-31.1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: