Disorder "Hypertrophic Cardiomyopathy"
Found 18 records
Disorder information
Disorder name:
Hypertrophic Cardiomyopathy
Disoder ID:
Synonyms:
familial hypertrophic cardiomyopathy,hypertrophic obstructive cardiomyopathy
Definition:
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Modifier statisitcs
Record:
18
Gene:
15
Variant:
16
Reference:
10
Effect type:
Expressivity(17)
,Penetrance(1)
Modifier effect:
Altered severity(8)
,Risk factor(7)
,Altered LV outflow tract pressure gradient(1)
,Altered incidence(1)
,Altered onset time and altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CACNB2 | CACNB2:c.1604C>T(p.Ser535Leu) | Expressivity | Altered severity | Pedigree analysis | CACNB2 is a possible genetic modifier of MYBPC3-associated familial HCMmore | more |
| AGTR1 | AGTR1:c.1166A/C | Expressivity | Altered severity | From review article | AGTR1,EDN1,TNF mutations is associated with severity of hypertrophymore | more |
| AGT | AGT:c.803T>C(p.Met268Thr) | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Severity of heart hypertrophy were associated with pejorative genotype of AGT M235T polymorphism and CMA1 A(-1903) polymorphismmore | more |
| AGT:c.803T>C(p.Met268Thr) | Expressivity | Risk factor | P=0.004 | 235TT genotype of AGT (M235T) was significantly associated with enhanced risk of the disease phenotype in HCM, DCM, and RCM.more | more | |
| ACTC1 | ACTC1:c.76G>A(p.Asp26Asn) | Penetrance | Altered incidence | Pedigree analysis | p.(Asp26Asn) mutation of ACTC1 was associated with HCM phenotype, and the penetrance is extremely high (81.8%) in adultsmore | more |
| ACE2 | ACE2:c.187-1746C>G | Expressivity | Risk factor | OR=1.11, 95% CI: 1.03 - 1.21, P=0.002 | Minor alleles of ACE2 gene might be the genetic modifier for the magnitude of left ventricular hypertrophy in male patients with HCM.more | more |
| 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 | |
| ACE2:n.-2943A>G | Expressivity | Risk factor | OR=1.34, 95% CI: 1.01 - 1.77, P=0.04; | The T allele of rs2106809 and C allele of rs6632677 conferred increasing risk for HCMmore | more |