{"Name":"Mitochondrial complex IV deficiency, nuclear-type","DiseaseID__c":"GARD:0000048","id":48,"encodedName":"mitochondrial-complex-iv-deficiency-nuclear-type","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial complex IV deficiency, nuclear-type","Xref_IDs__c":"67434000; C5779825; C98910; D030401; DOID:3762; MEDGEN:1830397; MONDO:0033885; OMIMPS:220110","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"GARD:0000048","Disease_Description__c":"Cytochrome c oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain, and liver. There are four types of COX deficiency differentiated by symptoms and age of onset: benign infantile mitochondrial type, French-Canadian type, infantile mitochondrial myopathy type, and Leigh syndrome. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same subtype and same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by genetic changes in any of at least 14 genes; the inheritance pattern depends on the gene involved.","GARD_Name__c":"Mitochondrial complex IV deficiency, nuclear-type","GARD_Synonym__c":"cytochrome c oxidase deficiency; cytochrome-c oxidase deficiency; cytochrome-c oxidase deficiency disease; isolated cox (cytochrome c oxidase) deficiency; isolated cox deficiency; isolated cytochrome c oxidase deficiency; isolated mitochondrial respiratory chain complex iv deficiency; mitochondrial complex 4 deficiency; mitochondrial complex iv deficiency; mitochondrial respiratory complex iv deficiency","Curated_Disease_Description_Source__c":"GARD:0000048","Curated_Disease_Description__c":"Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals. The severity of cytochrome c oxidase deficiency varies widely among affected individuals, even among those in the same family. People who are mildly affected tend to have muscle weakness (myopathy) and poor muscle tone (hypotonia) with no other related health problems. More severely affected people have problems in multiple body systems, often including severe brain dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome c oxidase deficiency have a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Another possible feature of this condition is an enlarged liver (hepatomegaly), which may lead to liver failure. Most individuals with cytochrome c oxidase deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can cause nausea and an irregular heart rate, and can be life-threatening. Many people with cytochrome c oxidase deficiency have a specific group of features known as Leigh syndrome. The signs and symptoms of Leigh syndrome include loss of mental function, movement problems, hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. Cytochrome c oxidase deficiency is one of the many causes of Leigh syndrome. Many individuals with cytochrome c oxidase deficiency do not survive past childhood, although some individuals with mild signs and symptoms live into adolescence or adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:254905","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0033885","ORPHANET_ID__c":"ORPHA:254905","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"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":"Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals. The severity of cytochrome c oxidase deficiency varies widely among affected individuals, even among those in the same family. People who are mildly affected tend to have muscle weakness (myopathy) and poor muscle tone (hypotonia) with no other related health problems. More severely affected people have problems in multiple body systems, often including severe brain dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome c oxidase deficiency have a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Another possible feature of this condition is an enlarged liver (hepatomegaly), which may lead to liver failure. Most individuals with cytochrome c oxidase deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can cause nausea and an irregular heart rate, and can be life-threatening. Many people with cytochrome c oxidase deficiency have a specific group of features known as Leigh syndrome. The signs and symptoms of Leigh syndrome include loss of mental function, movement problems, hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. Cytochrome c oxidase deficiency is one of the many causes of Leigh syndrome. Many individuals with cytochrome c oxidase deficiency do not survive past childhood, although some individuals with mild signs and symptoms live into adolescence or adulthood.","Curated_Disease_Description_Source__c":"GARD:0000048","GARD_Synonym__c":"cytochrome c oxidase deficiency; cytochrome-c oxidase deficiency; cytochrome-c oxidase deficiency disease; isolated cox (cytochrome c oxidase) deficiency; isolated cox deficiency; isolated cytochrome c oxidase deficiency; isolated mitochondrial respiratory chain complex iv deficiency; mitochondrial complex 4 deficiency; mitochondrial complex iv deficiency; mitochondrial respiratory complex iv deficiency","Name":"Mitochondrial complex IV deficiency, nuclear-type","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"},{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268237"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000048","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS220110","Source__c":"MONDO:0033885","Xref__c":"OMIMPS:220110"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1830397","Source__c":"C5779825","Xref__c":"MEDGEN:1830397"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3762","Source__c":"MONDO:0033885","Xref__c":"DOID:3762"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5779825","Source__c":"C5779825","Xref__c":"C5779825"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0033885","Source__c":"GARD:0000048","Xref__c":"MONDO:0033885"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98910","Source__c":"MONDO:0033885","Xref__c":"C98910"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=67434000","Source__c":"MONDO:0033885","Xref__c":"67434000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1264009006","Source__c":"C5779825","Xref__c":"1264009006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C030401","Source__c":"MONDO:0033885","Xref__c":"D030401"}],"Inheritance__c":["Mitochondrial inheritance"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities"],"Account":["Mitochondrial"]},"synonyms":["cytochrome c oxidase deficiency"," cytochrome-c oxidase deficiency"," cytochrome-c oxidase deficiency disease"," isolated cox (cytochrome c oxidase) deficiency"," isolated cox deficiency"," isolated cytochrome c oxidase deficiency"," isolated mitochondrial respiratory chain complex iv deficiency"," mitochondrial complex 4 deficiency"," mitochondrial complex iv deficiency"," mitochondrial respiratory complex iv deficiency"]}