Cardiomyopathy, dilated, 1T

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1T
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613740
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases
Inheritance: Autosomal dominant
Monogenic
16247757 [IBIS]
Age of onset: Adult
16247757 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1T is caused by mutation TMPO (PMID:16247757).

Symptom Information: Sort by abundance 

1
 (HPO:0001644) Dilated cardiomyopathy 16247757 IBIS 141 / 7739
2
 (HPO:0006673) Reduced systolic function 16247757 IBIS 11 / 7739
3
 (HPO:0001635) Congestive heart failure 16247757 IBIS 232 / 7739
4
 (HPO:0012663) Mildly reduced ejection fraction 16247757 IBIS 4 / 7739

Associated genes:

TMPO;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
TMPO rs17028450 pathogenic RCV000013544.24

Additional Information:

Clinical Description OMIM Taylor et al. (2005) described 2 brothers with severe dilated cardiomyopathy (CMD) and mutation in the LAP2 gene (also known as TMPO). The brothers' mother and maternal grandmother reportedly had idiopathic CMD and heart failure, suggesting an autosomal ...
Molecular genetics OMIM Taylor et al. (2005) identified LAP2 as a candidate gene for CMD on the basis of its association with lamin A/C (150330), which is mutated in a form of CMD (CMD1A; 115200). They screened 113 individuals with dilated ...