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 |
|---|---|---|---|---|---|---|
| TNNI3K | TNNI3K:rs49812611 | 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. | Prevalence of TNNI3K (3784 C>T) and CALM3 (-34T>A) variant homozygous genotype were significantly higher in HCM and DCM subjectsmore | more |
| TNF | TNF:c.-308G>A | Expressivity | Altered severity | From review article | AGTR1,EDN1,TNF mutations is associated with severity of hypertrophymore | more |
| PLA2G7 | PLA2G7:c.994G>T(p.Val279Phe) | Expressivity | Altered severity | From review article | PLA2G7 mutations is more common in HCM and is associated with increased left ventricular dimension and decreased functionmore | more |
| MYOZ2 | MYOZ2:c.505A-C(p.L169G) | Expressivity | Altered onset time and altered severity | Pedigree analysis | The MYOZ2-L169G mutation alone was not found to be pathogenic, but it did appear to play a modifying role in HCM.more | more |
| MYBPH | MYBPH:c.*3942A>G | Expressivity | Altered severity | P=0.016 | Variation in MYBPH can modulate the severity of hypertrophy in HCM.more | more |
| MYBPC3 | MYBPC3:c.643C>T(p.Arg215Cys) | Expressivity | Altered LV outflow tract pressure gradient | Pedigree analysis | MYBPC3-R215C may function as a genetic modifiermore | more |
| EDN1 | EDN1:c.8002G/A | Expressivity | Altered severity | From review article | AGTR1,EDN1,TNF mutations is associated with severity of hypertrophymore | more |
| COL1A1 | COL1A1:rs1800012 | Expressivity | Risk factor | For noncarriers of polymorphic col1a1 allele [HR=2.76, 95% CI: (1.26-6.05), P=0.011] and a trend in homozygous carriers of adrb1 arg389 variant [HR=1.98, 95% CI:(1.99-4.02); P=0.057] | COL1A1 polymorphism (2046G>T) is an independent predictor of prognosis in HCM patients supporting the importance of nonsarcomeric genes on clinical prognosis in HCM.more | more |
| CMA1 | CMA1:c.-1903A | 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 |
| 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 |