Congestive heart failure, and Lactic acidosis

Diseases related with Congestive heart failure and Lactic acidosis

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

Top matches:

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

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

Other less relevant matches:

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

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

Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Lactic acidosis

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases
Cardiomyopathy Common - Between 50% and 80% cases
Increased serum lactate Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Congestive heart failure and Lactic acidosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Metabolic acidosis

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Seizures Muscle weakness Severe lactic acidosis Motor delay Bradycardia Growth delay Intellectual disability Hyperalaninemia Arrhythmia Feeding difficulties

Rare Symptoms - Less than 30% cases

Infantile muscular hypotonia Vomiting Hearing impairment Ataxia Hepatomegaly Encephalopathy Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex I Increased serum pyruvate Abnormality of mitochondrial metabolism Hypoglycemia Dilated cardiomyopathy Sensorineural hearing impairment Myopathy Cognitive impairment Tachypnea Respiratory distress Respiratory insufficiency Intrauterine growth retardation Aspiration pneumonia Pleural effusion Cardiomegaly Ascites Tachycardia Poor speech Small for gestational age Optic atrophy Visual impairment Dystonia Wolff-Parkinson-White syndrome Spasticity Schistocytosis Sideroblastic anemia Hypochromic microcytic anemia Anemia of inadequate production Microcytic anemia Brittle hair Ketonuria Decreased activity of mitochondrial respiratory chain Sinus bradycardia Ketoacidosis Congenital lactic acidosis Chronic metabolic acidosis Periventricular cysts Necrotizing encephalopathy Increased head circumference Proximal renal tubular acidosis Cystinuria Dysgraphia Periventricular leukomalacia Renal tubular acidosis Nephrocalcinosis Athetosis CNS hypomyelination Hyperammonemia Clonus Leukodystrophy Pneumonia Renal insufficiency Intellectual disability, severe Macrocephaly Dysarthria Aminoaciduria Decreased antibody level in blood Lymphopenia Pain Histiocytoid cardiomyopathy Ragged-red muscle fibers Decreased fetal movement Polyhydramnios Respiratory failure Abdominal pain Edema Fatigue Hypertension Myocardial fibrosis Generalized muscle weakness Myocarditis Nemaline bodies Cardiac arrest Staring gaze Otitis media Low-output congestive heart failure Abnormal mitochondrial shape Abnormality of the mitochondrion Severe muscular hypotonia Poor appetite Pulmonary hypoplasia Cyanosis Abnormal mitochondrial morphology Abnormal cerebellum morphology Neurodegeneration Rod-cone dystrophy Cerebral atrophy Immunodeficiency Anemia Feeding difficulties in infancy Hyperglutaminemia Myocardial necrosis Oroticaciduria Caesarian section Cytochrome C oxidase-negative muscle fibers Lethargy Abnormality of the basal ganglia Short chin Dysphagia Hypothermia Microcephaly Left ventricular noncompaction EEG abnormality Neuronal loss in the cerebral cortex


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