Cardiomyopathy, dilated, 1W

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1W
Number of Symptoms 5
OrphanetNr:
OMIM Id: 611407
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
11815424 [IBIS]
Age of onset: Adult
11815424 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1W is caused by mutations in VCL (PMID:11815424).

Symptom Information: Sort by abundance 

1
(HPO:0001644) Dilated cardiomyopathy 11815424 IBIS 141 / 7739
2
(HPO:0001635) Congestive heart failure 11815424 IBIS 232 / 7739
3
(HPO:0002094) Dyspnea 11815424 IBIS 132 / 7739
4
(MedDRA:10050380) Electrocardiogram T wave abnormal 11815424 IBIS 5 / 7739
5
(HPO:0001699) Sudden death 11815424 IBIS 34 / 7739

Associated genes:

VCL;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
VCL rs121917776 pathogenic RCV000012980.16
VCL rs397517234 likely pathogenic RCV000038802.2
VCL rs397517239 likely pathogenic RCV000038823.2
VCL rs397517244 likely pathogenic RCV000038833.2
VCL rs397517245 likely pathogenic RCV000038836.2
VCL rs727503738 likely pathogenic RCV000152646.1
VCL rs727503741 likely pathogenic RCV000152653.1
VCL rs727504381 likely pathogenic RCV000154540.1
VCL rs727505159 likely pathogenic RCV000156630.1

Additional Information:

Molecular genetics OMIM Olson et al. (2002) used SSCP to analyze the VCL gene, which maps to chromosome 10q, in 350 unrelated patients with sporadic or familial dilated cardiomyopathy who were negative for mutations in the ACTC (102540) and TPM1 (191010) ...