{"Name":"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency","DiseaseID__c":"GARD:0017227","id":17227,"encodedName":"mitochondrial-myopathy-with-reversible-cytochrome-c-oxidase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency","Xref_IDs__c":"C3151898; MEDGEN:463248; MONDO:0010780; OMIM:500009; ORPHA:254864","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:254864","Disease_Description__c":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.","GARD_Name__c":"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency","GARD_Synonym__c":"benign cox deficiency; cox deficiency myopathy, infantile, transient; infantile reversible cytochrome c oxidase deficiency myopathy; mitochondrial myopathy with reversible complex iv deficiency; mitochondrial myopathy with reversible cox deficiency; mitochondrial myopathy, infantile, transient; mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency; respiratory chain deficiency, infantile, transient; reversible infantile cytochrome c oxidase deficiency; reversible infantile respiratory chain deficiency","Curated_Disease_Description_Source__c":"ORPHA:254864","Curated_Disease_Description__c":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:254864","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010780","ORPHANET_ID__c":"ORPHA:254864","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía mitocondrial con deficiencia reversible de citocromo c oxidasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía mitocondrial con deficiencia reversible de citocromo c oxidasa","Spanish_GARD_Synonym__c":"deficiencia benigna de cox; deficiencia reversible de citocromo c oxidasa del lactante; deficiencia reversible de la cadena respiratoria del lactante; miopatía con deficiencia reversible de citocromo c oxidasa del lactante; miopatía mitocondrial con deficiencia reversible de complejo iv; miopatía mitocondrial con deficiencia reversible de cox","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.","Curated_Disease_Description_Source__c":"ORPHA:254864","GARD_Synonym__c":"benign cox deficiency; cox deficiency myopathy, infantile, transient; infantile reversible cytochrome c oxidase deficiency myopathy; mitochondrial myopathy with reversible complex iv deficiency; mitochondrial myopathy with reversible cox deficiency; mitochondrial myopathy, infantile, transient; mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency; respiratory chain deficiency, infantile, transient; reversible infantile cytochrome c oxidase deficiency; reversible infantile respiratory chain deficiency","Name":"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:254864"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:254864"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151898","Source__c":"C3151898","Xref__c":"C3151898"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=463248","Source__c":"C3151898","Xref__c":"MEDGEN:463248"},{"URL__c":"https://www.orpha.net/en/disease/detail/254864","Source__c":"C3151898; MONDO:0010780","Xref__c":"ORPHA:254864"},{"URL__c":"https://www.omim.org/entry/500009","Source__c":"C3151898; MONDO:0010780; ORPHA:254864","Xref__c":"OMIM:500009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010780","Source__c":"GARD:0017227","Xref__c":"MONDO:0010780"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MT-TE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-te","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true},{"GeneSymbol__c":"TRMU","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Mitochondrial inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Concentration of carnitine in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003234","HPO_Synonym__c":"Decreased plasma carnitine","HPO_Name__c":"Decreased circulating carnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Feeding problem necessitating nasogastric tube feeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011470","HPO_Name__c":"Nasogastric tube feeding in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004887","HPO_Synonym__c":"Respiratory distress necessitating mechanical ventilation; Respiratory distress requiring endotracheal intubation; Respiratory distress requiring mechanical ventilation","HPO_Name__c":"Respiratory failure requiring assisted ventilation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008180","HPO_Synonym__c":"Mildly elevated CPK; Mildly elevated creatine phosphokinase; Mildly elevated serum CK; Mildly elevated serum CPK; Mildly elevated serum phospho-CK; Mildly increased creatine kinase; Mildly increased serum creatine kinase; Moderately elevated serum CK; Moderately elevated serum CPK; Moderately increased serum creatine kinase","HPO_Name__c":"Mildly elevated creatine kinase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of lactic acidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004900","HPO_Name__c":"Severe lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of lipids in skeletal muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009058","HPO_Synonym__c":"Fat accumulation in muscle fibers; Fat deposits in muscle fibers; Increased muscle lipid content; Lipid accumulation in skeletal muscle; Muscle lipidosis; Skeletal muscle lipid accumulation","HPO_Name__c":"Increased muscle lipid content","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002033","HPO_Synonym__c":"Poor suck; Poor sucking; Sucking weakness","HPO_Name__c":"Poor suck","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of glycogen in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009051","HPO_Name__c":"Increased muscle glycogen content","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003688","HPO_Synonym__c":"Cytochrome c oxidase deficiency in skeletal muscle; Decreased activity of cytochrome C oxidase in muscle tissue; Decreased skeletal muscle cytochrome c oxidase activity","HPO_Name__c":"Cytochrome C oxidase-negative muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003200","HPO_Synonym__c":"Mitochondrial proliferation in muscle tissue; Ragged red muscle fibers; Ragged-red fibers","HPO_Name__c":"Ragged-red muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011923","HPO_Name__c":"Decreased activity of mitochondrial complex I","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005946","HPO_Name__c":"Ventilator dependence with inability to wean","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254864","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["benign cox deficiency"," cox deficiency myopathy, infantile, transient"," infantile reversible cytochrome c oxidase deficiency myopathy"," mitochondrial myopathy with reversible complex iv deficiency"," mitochondrial myopathy with reversible cox deficiency"," mitochondrial myopathy, infantile, transient"," mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency"," respiratory chain deficiency, infantile, transient"," reversible infantile cytochrome c oxidase deficiency"," reversible infantile respiratory chain deficiency"]}