Cardiomyopathy, dilated, 1M

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1M
Number of Symptoms 13
OrphanetNr:
OMIM Id: 607482
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Neonatal
Infancy

14567970 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1M is caused by mutations in CSRP3 (PMID:14567970).

Symptom Information: Sort by abundance 

1
(HPO:0002094) Dyspnea 14567970 IBIS 132 / 7739
2
(HPO:0001706) Endocardial fibroelastosis 14567970 IBIS 20 / 7739
3
(HPO:0001640) Cardiomegaly 14567970 IBIS 81 / 7739
4
(HPO:0001711) Abnormality of the left ventricle 14567970 IBIS 22 / 7739
5
(HPO:0001712) Left ventricular hypertrophy 14567970 IBIS 76 / 7739
6
(HPO:0001639) Hypertrophic cardiomyopathy 14567970 IBIS 137 / 7739
7
(HPO:0001644) Dilated cardiomyopathy 14567970 IBIS 141 / 7739
8
(MedDRA:10067286) Left atrial dilatation 14567970 IBIS 10 / 7739
9
(HPO:0001685) Myocardial fibrosis 14567970 IBIS 30 / 7739
10
(HPO:0012666) Severely reduced ejection fraction 14567970 IBIS 9 / 7739
11
(HPO:0001635) Congestive heart failure 14567970 IBIS 232 / 7739
12
(HPO:0006670) Impaired myocardial contractility 12507422 IBIS 9 / 7739
13
(OMIM) Left ventricular dilatation (1 patient) 14567970 IBIS 5 / 7739

Associated genes:

CSRP3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
CSRP3 rs137852764 pathogenic RCV000009325.3
CSRP3 rs137852765 likely pathogenic RCV000150369.1

Additional Information:

Clinical Description OMIM In 10 patients with CMD1M, Knoll et al. (2002) reported a clinical phenotype that included chamber dilation, thin ventricular walls, decreased contractility and impaired relaxation, and no evidence of hypertrophic cardiomyopathy. The phenotype was considered consistent with Csrp3-deficient ...
Molecular genetics OMIM Knoll et al. (2002) identified a trp4-to-arg mutation (W4R; 600824.0001) in the CSRP3 gene in 10 patients with CMD1M.

In 2 sibs who died of dilated cardiomyopathy and who were negative for mutation in 8 known ...