Cardiomyopathy, and Lactic acidosis

Diseases related with Cardiomyopathy and Lactic acidosis

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


Top matches:

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Medium 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

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Other less relevant matches:

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

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8


Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile|coxpd8

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8

Low match CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME


Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised 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.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Low match SUDDEN CARDIAC FAILURE, INFANTILE; SCFI


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Feeding difficulties
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

Low match LETHAL INFANTILE MITOCHONDRIAL MYOPATHY


Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.

LETHAL INFANTILE MITOCHONDRIAL MYOPATHY Is also known as limd|limm|lethal infantile mitochondrial disease

Related symptoms:

  • Myopathy
  • Lactic acidosis
  • Lethal infantile mitochondrial myopathy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL INFANTILE MITOCHONDRIAL MYOPATHY

Low match MALONIC ACIDURIA


Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Low match FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY


Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.

FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY Is also known as fatal infantile cox deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency|cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Lactic acidosis

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Lactic acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Increased serum lactate Failure to thrive Muscular hypotonia Metabolic acidosis Respiratory insufficiency Feeding difficulties Global developmental delay Myopathy

Rare Symptoms - Less than 30% cases


Respiratory distress Vomiting Intellectual disability Feeding difficulties in infancy Arrhythmia Muscle weakness Hypoglycemia Hyperammonemia Recurrent urinary tract infections Heterotopia Pachygyria Febrile seizures Abdominal pain Ketosis Constipation Diarrhea Pain Short stature Lethal infantile mitochondrial myopathy Myocardial fibrosis Poor appetite Hyporeflexia Chronic constipation Ragged-red muscle fibers Neuronal loss in basal ganglia Limited extraocular movements Inspiratory stridor Breathing dysregulation Increased CSF lactate Stridor Spontaneous abortion Nemaline bodies Cardiomegaly Neuronal loss in central nervous system Gliosis Abnormality of the nervous system Encephalopathy Nystagmus Episodic vomiting Myocarditis Bradycardia Cardiac arrest Decreased activity of mitochondrial ATP synthase complex Respiratory insufficiency due to muscle weakness Abnormality of mitochondrial metabolism Organic aciduria Cerebral white matter atrophy Lethargy Short chin Tachypnea Hypothermia Left ventricular noncompaction Severe lactic acidosis Peripheral neuropathy Intellectual disability, mild Aciduria 3-Methylglutaconic aciduria Motor delay Inability to walk Severe muscular hypotonia Otitis media Dilated cardiomyopathy Cognitive impairment Low-output congestive heart failure Abnormal mitochondrial shape Abnormality of the mitochondrion Cyanosis EEG abnormality Visual impairment Intrauterine growth retardation Staring gaze Histiocytoid cardiomyopathy Generalized muscle weakness Pulmonary hypoplasia Basal ganglia gliosis



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