Cardiomyopathy, and Abnormality of mitochondrial metabolism

Diseases related with Cardiomyopathy and Abnormality of mitochondrial metabolism

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Abnormality of mitochondrial metabolism that can help you solving undiagnosed cases.


Top matches:

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A


MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

Low match CARDIOMYOPATHY, DILATED, 1GG; CMD1GG


Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Dilated cardiomyopathy
  • Ventricular hypertrophy
  • Left ventricular hypertrophy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1GG; CMD1GG

Low match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3


MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3 Is also known as mitochondrial complex v (atp synthase) deficiency, atp5e type

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Cardiomyopathy
  • Intellectual disability, mild
  • Acidosis


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3

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Other less relevant matches:

Low match INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY


Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY Is also known as combined oxidative phosphorylation defect type 16|coxpd16

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Headache
  • Elevated hepatic transaminase
  • Hypertrophic cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY

Low match AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE


A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE

Low match 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hadh deficiency|schad deficiency, formerly

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Cardiomyopathy
  • Encephalopathy
  • Hypoglycemia


SOURCES: MESH OMIM MENDELIAN

More info about 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Low match HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY


Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY Is also known as aconitase deficiency|iscu myopathy|iron-sulfur cluster deficiency myopathy|myopathy with deficiency of succinate dehydrogenase and aconitase|myopathy with exercise intolerance, swedish type|myoglobinuria due to abnormal glycolysis

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Respiratory distress
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17


Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of 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.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17 Is also known as coxpd17

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17

Low match MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D


Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Peters et al., 2014).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D

Low match LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD


Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Feeding difficulties
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Abnormality of mitochondrial metabolism

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Increased serum lactate Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Lactic acidosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Abnormality of mitochondrial metabolism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Hearing impairment Decreased activity of mitochondrial complex I Dilated cardiomyopathy Seizures Muscle weakness

Rare Symptoms - Less than 30% cases


Congestive heart failure Growth delay Myoglobinuria Global developmental delay Dysphagia Visual impairment Exercise intolerance Sensorineural hearing impairment Nystagmus Proximal muscle weakness Elevated serum creatine phosphokinase Hepatic steatosis Myopathy Decreased activity of mitochondrial complex II Organic aciduria Respiratory insufficiency Aciduria Abnormal iron deposition in mitochondria Decreased activity of mitochondrial complex III Subsarcolemmal accumulations of abnormally shaped mitochondria Increased intramyocellular lipid droplets Increased muscle fatiguability Decreased activity of the pyruvate dehydrogenase complex Sideroblastic anemia Mitochondrial myopathy Rhabdomyolysis Dystonia Microcephaly Scoliosis Feeding difficulties Palpitations Muscle cramps Tachycardia Supraventricular tachycardia Dyspnea Dilatation Vertical nystagmus Muscular hypotonia Failure to thrive Abnormality of eye movement Hypoplasia of the corpus callosum Ventricular septal defect Spasticity Hyperglutaminemia Abnormality of the eye Decreased activity of mitochondrial complex IV Myocardial necrosis Respiratory distress Oroticaciduria Apnea Neurodegeneration Poor suck Cytochrome C oxidase-negative muscle fibers Hyperalaninemia Abnormality of the basal ganglia Infantile muscular hypotonia Metabolic acidosis Increased CSF lactate Intrauterine growth retardation Abnormal mitochondrial morphology Hepatic failure Fatigue Decreased activity of mitochondrial ATP synthase complex Optic atrophy Strabismus Decreased activity of mitochondrial respiratory chain Microvesicular hepatic steatosis Cardiomegaly Paralysis Respiratory tract infection Elevated hepatic transaminase Headache 3-Methylglutaconic aciduria Visual loss Intellectual disability, mild Intellectual disability Left ventricular noncompaction cardiomyopathy Left ventricular noncompaction Left ventricular hypertrophy Ventricular hypertrophy Cerebral white matter atrophy Respiratory insufficiency due to muscle weakness Inability to walk Hyporeflexia Gait disturbance Reduced visual acuity Skeletal muscle atrophy Encephalopathy Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Hypoglycemic encephalopathy Fulminant hepatic failure Hepatic necrosis Recurrent myoglobinuria Dicarboxylic aciduria Hypoglycemic seizures Hypoketotic hypoglycemia Feeding difficulties in infancy Hypoglycemia Motor axonal neuropathy Pallor Dyschromatopsia Central scotoma Optic neuropathy Scotoma Constriction of peripheral visual field Horizontal nystagmus Exotropia Optic disc pallor Progressive visual loss Peripheral axonal neuropathy Fatty replacement of skeletal muscle



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