Cardiomyopathy, and Increased serum lactate

Diseases related with Cardiomyopathy and Increased serum lactate

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


Top matches:

High 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 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

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9


Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9 Is also known as coxpd9

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9

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Other less relevant matches:

Medium 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

Medium 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

Medium 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

Medium match MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA


MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia|maternally-inherited spg

Related symptoms:

  • Hyperreflexia
  • Optic atrophy
  • Cardiomyopathy
  • Babinski sign
  • Diabetes mellitus


SOURCES: ORPHANET MENDELIAN

More info about MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

Medium 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

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Increased serum lactate

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

Patients with Cardiomyopathy and Increased serum lactate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Congestive heart failure Failure to thrive Respiratory distress Seizures Metabolic acidosis Muscular hypotonia

Rare Symptoms - Less than 30% cases


Hearing impairment Nystagmus Dyspnea Respiratory insufficiency Hyperalaninemia Muscle weakness Decreased activity of mitochondrial complex I Increased CSF lactate Elevated hepatic transaminase Abnormality of mitochondrial metabolism Cardiomegaly Myopathy Feeding difficulties in infancy Intrauterine growth retardation Feeding difficulties Increased intramyocellular lipid droplets Subsarcolemmal accumulations of abnormally shaped mitochondria Decreased activity of mitochondrial complex II Decreased activity of mitochondrial complex III Abnormal iron deposition in mitochondria Increased muscle fatiguability Intellectual disability Sideroblastic anemia Mitochondrial myopathy Myoglobinuria Rhabdomyolysis Palpitations Muscle cramps Tachycardia Proximal muscle weakness Elevated serum creatine phosphokinase Dilatation Fatigue Skeletal muscle atrophy Exercise intolerance Cytochrome C oxidase-negative muscle fibers Microcephaly Spasticity Vertical nystagmus Poor suck Neurodegeneration Abnormality of eye movement Abnormality of the eye Apnea Dystonia Hypoplasia of the corpus callosum Ventricular septal defect Hyperglutaminemia Growth delay Decreased activity of mitochondrial complex IV Myocardial necrosis Abnormal mitochondrial morphology Oroticaciduria Lower limb pain Abnormality of the basal ganglia Infantile muscular hypotonia Dilated cardiomyopathy Dysphagia Sensorineural hearing impairment Leg muscle stiffness Basal ganglia gliosis Supraventricular arrhythmia Abnormality of the liver Abnormality of the mitochondrion Severe muscular hypotonia Cyanosis Staring gaze Histiocytoid cardiomyopathy Generalized muscle weakness Pulmonary hypoplasia EEG abnormality Motor delay Hepatomegaly Low-output congestive heart failure Decreased activity of mitochondrial respiratory chain Microvesicular hepatic steatosis Hepatic steatosis Paralysis Respiratory tract infection Headache Arrhythmia Visual impairment Cognitive impairment Abnormal mitochondrial shape Encephalopathy Distal lower limb muscle weakness Optic atrophy Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Lower limb spasticity Abnormal cerebellum morphology Peripheral axonal neuropathy Abnormal pyramidal sign Difficulty walking Diabetes mellitus Babinski sign Hyperreflexia Abnormality of the nervous system Neuronal loss in basal ganglia Limited extraocular movements Inspiratory stridor Breathing dysregulation Stridor Ragged-red muscle fibers Spontaneous abortion Neuronal loss in central nervous system Gliosis Decreased activity of the pyruvate dehydrogenase complex



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