Disorder "Dilated Cardiomyopathy"
Found 25 records
Disorder information
Disorder name:
Dilated Cardiomyopathy
Disoder ID:
OMIM entry:
Synonyms:
primary dilated cardiomyopathy,Congestive cardiomyopathy,Familial dilated cardiomyopathy,Idiopathic dilation cardiomyopathy
Definition:
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
Modifier statisitcs
Record:
25
Gene:
11
Variant:
25
Reference:
7
Effect type:
Expressivity(24)
,Penetrance(1)
Modifier effect:
Risk factor(20)
,Altered severity(2)
,Altered LVEF level(1)
,Altered contractility and functional deterioration in heart failure(1)
,Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| EDN1 | EDN1:p.Thr40Ile | Expressivity | Risk factor | Unique in DCM | The two rare variants (G>A transition (rs150035515) at c.90 and C>T transition (rs149399492) at c.119) observed in the present study were found to be unique in DCM.more | more |
| CALM3 | CALM3:rs13477425 | Expressivity | Risk factor | There was significant gene-gene interaction between these snps and three-way snp combination of ace2 c>g, tnn13k c>t, calm3 a>t gene variants and was associated with high risk of hcm and dcm. | Presence of ACE2 (7160726 C>G) and CALM3 (-34T>A) variant genotypes in HCM Patients with mutations (sarcomeric or non sarcomeric genes) was associated with increased mean septal thickness.more | more |
| BAG3 | BAG3:rs397516883 | Expressivity | Altered severity | Pedigree analysis | The female carriers of TNNT2 and BAG3 variants had more advanced DCM.more | more |
| AGT | AGT:c.803T>C(p.Met268Thr) | Expressivity | Risk factor | P<0.001 | 235TT genotype of AGT (M235T) was significantly associated with enhanced risk of the disease phenotype in HCM, DCM, and RCM.more | more |
| ACE2 | ACE2:c.187-1746C>G | Expressivity | Risk factor | There was significant gene-gene interaction between these snps and three-way snp combination of ace2 c>g, tnn13k c>t, calm3 a>t gene variants and was associated with high risk of hcm and dcm. | ACE2 (7160726 C>G) variant genotypes (CG and GG) was significantly higher in DCMmore | more |