Disorder "Cardiomyopathy"
Found 8 records
Disorder information
Disorder name:
Cardiomyopathy
Disoder ID:
Synonyms:
Cardiomyopathies
Definition:
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Modifier statisitcs
Record:
8
Gene:
3
Variant:
8
Reference:
2
Effect type:
Expressivity(4)
,Penetrance(4)
Modifier effect:
Altered incidence(4)
,Altered life span(3)
,Altered onset time(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TTN | TTN:c.18295C>T(p.Leu4855Phe) | Expressivity | Altered onset time | Pedigree analysis | The age for heart transplantation was substantially less for LMNA:p.K219T/TTN:p.L4855F double heterozygotes than that for LMNA:p.K219T single heterozygotes.more | more |
| TPM1 | TPM1:c.284T>C(p.Val95Ala) | Penetrance | Altered incidence | From review article | Mutation V95A, which is associated with a high incidence of sudden death despite only mild hypertrophic changesmore | more |
| MYH7 | MYH7:c.1207C>G(p.Arg403Gly) | Expressivity | Altered life span | From review article | R403Q, R453C, and R719W are malignant mutations associated with substantial hypertrophy and reduction of life expectancymore | more |
| MYH7:c.1357C>A(p.Arg453Ser) | Expressivity | Altered life span | From review article | R403Q, R453C, and R719W are malignant mutations associated with substantial hypertrophy and reduction of life expectancymore | more | |
| MYH7:c.1816G>T(p.Val606Leu) | Penetrance | Altered incidence | From review article | Mutations (L908V, G256E, and V606M) are associated with a benign clinical course and near-normal life expectancymore | more | |
| MYH7:c.2155C>T(p.Arg719Trp) | Expressivity | Altered life span | From review article | R403Q, R453C, and R719W are malignant mutations associated with substantial hypertrophy and reduction of life expectancymore | more | |
| MYH7:c.2722C>G(p.Leu908Val) | Penetrance | Altered incidence | From review article | Mutations (L908V, G256E, and V606M) are associated with a benign clinical course and near-normal life expectancymore | more | |
| MYH7:c.767G>A(p.Gly256Glu) | Penetrance | Altered incidence | From review article | Mutations (L908V, G256E, and V606M) are associated with a benign clinical course and near-normal life expectancymore | more |
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