Cardiomyopathy, dilated, 1Z

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1Z
Number of Symptoms 10
OrphanetNr:
OMIM Id: 611879
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
15542288 [IBIS]
Age of onset: Adults
15542288 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1Z is caused by mutations in TNNC1 (PMID:15542288).

Symptom Information: Sort by abundance 

1
 (HPO:0001644) Dilated cardiomyopathy 15542288 IBIS 141 / 7739
2
 (HPO:0010872) EKG: T-wave inversion 15542288 IBIS 19 / 7739
3
 (HPO:0001635) Congestive heart failure 15542288 IBIS 232 / 7739
4
 (HPO:0002094) Dyspnea 15542288 IBIS 132 / 7739
5
 (OMIM) Interstitial fibrosis 15542288 IBIS 24 / 7739
6
 (OMIM) Left axis deviation 15542288 IBIS 7 / 7739
7
 (OMIM) Lymphedema, of upper and/or lower extremity (rare) 15542288 IBIS 2 / 7739
8
 (OMIM) Myocyte hypertrophy 15542288 IBIS 10 / 7739
9
 (HPO:0001699) Sudden death 15542288 IBIS 34 / 7739
10
 (OMIM) Ventricular enlargement 15542288 IBIS 4 / 7739

Associated genes:

TNNC1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
TNNC1 rs104893823 pathogenic RCV000013254.22

Additional Information:

Clinical Description OMIM Mogensen et al. (2004) studied a 3-generation family with severe dilated cardiomyopathy in which the proband had sudden onset of heart failure at 21 years of age and underwent cardiac transplantation 2 months later. His mother died at ...
Molecular genetics OMIM In 5 affected members of a 3-generation family with severe dilated cardiomyopathy, Mogensen et al. (2004) identified heterozygosity for a missense mutation in the TNNC1 gene (191040.0001).