| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Hypertrophic mitochondrial cardiomyopathy associated with cataracts and lactic acidosis (disorder) |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
| Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
| Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
| A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency and characteristics of hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-ophthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Caused by homozygous mutation in the MRPL44 gene on chromosome 2. |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
| A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
| A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency. The disease has characteristics of lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Caused by homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
| A rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of infantile-onset severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Caused by homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
| A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
| A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported. |
Is a |
True |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
Inferred relationship |
Some |
|
FHIR