Gene Role Disease OMIM Descriptions Sources
AARS2 causing COXPD8 614096 The disease is caused by mutations affecting the gene represented in this entry. A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. [read more] 21549344
ABCC9 causing CMD1O 608569 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. [read more] 15034580
ACAD8 causing IBDD 611283 The disease is caused by mutations affecting the gene represented in this entry. The symptoms of IBDD generally appear until late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). [read more] 12359132
15505379
16857760
ACAD9 causing ACAD9 deficiency 611126 The disease is caused by mutations affecting the gene represented in this entry. A metabolic disorder with variable manifestations that include dilated cardiomyopathy, liver failure, muscle weakness, neurologic dysfunction, hypoglycemia and Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death). [read more]
ACADL causing ACADVLD 201475 The disease is caused by mutations affecting the gene represented in this entry. An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. [read more]
ACADVL causing ACADVLD 201475 The disease is caused by mutations affecting the gene represented in this entry. An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. [read more] 8554073
9546340
10077518
ACTC1 causing CMD1R 613424 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. [read more] 9563954
ACTC1 causing CMH11 612098 The disease is caused by mutations affecting the gene represented in this entry. A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. [read more] 10330430
10966831
14729850
18403758
ACTN2 causing CMD1AA 612158 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. [read more] 14567970
AGK causing MTDPS10 212350 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy. [read more] 22284826
22277967