{"Name":"Mitochondrial complex III deficiency","DiseaseID__c":"GARD:0008295","id":8295,"encodedName":"mitochondrial-complex-iii-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial complex III deficiency","Xref_IDs__c":"C1852372; DOID:0111139; MEDGEN:377658; MONDO:0015448; ORPHA:1460","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0015448","Disease_Description__c":"Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).","GARD_Name__c":"Mitochondrial complex III deficiency","GARD_Synonym__c":"deficiency of isolated coq cytochrome c reductase; deficiency of mitochondrial complex iii; deficiency of ubiquinone cytochrome c oxidoreductase; isolated coenzyme q-cytochrome c reductase deficiency; isolated complex iii deficiency; isolated coq-cytochrome c reductase deficiency; isolated mitochondrial respiratory chain complex iii deficiency; isolated ubiquinone-cytochrome c reductase deficiency; mc3dn1; mitochondrial respiratory chain complex iii deficiency","Curated_Disease_Description_Source__c":"GARD:0008295","Curated_Disease_Description__c":"Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later. The severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure.  Most people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood glucose levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening. Mitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:1460","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015448","ORPHANET_ID__c":"ORPHA:1460","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia aislada del complejo iii","Spanish_Description_Source__c":"ORPHA:1460","Spanish_Description__c":"La deficiencia aislada del complejo III, es un trastorno de la fosforilación oxidativa mitocondrial, genético y poco frecuente, caracterizado por un amplio espectro de manifestaciones clínicas que van desde miopatía aislada o hepatopatía transitoria, hasta un trastorno multisistémico grave (que puede incluir hipotonía, fallo de medro, retraso psicomotor, miocardiopatía, encefalopatía, tubulopatía renal, deficiencia auditiva, acidosis láctica, hipoglucemia y otros signos y síntomas).","Spanish_Disease_Name__c":"deficiencia aislada del complejo iii","Spanish_GARD_Synonym__c":"deficiencia aislada de coenzima q-citocromo c reductasa; deficiencia aislada de coq-citocromo c reductasa; deficiencia aislada de ubiquinona-citocromo c reductasa; deficiencia aislada del complejo iii de la cadena respiratoria mitocondrial","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":"Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later. The severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure.  Most people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood glucose levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening. Mitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.","Curated_Disease_Description_Source__c":"GARD:0008295","GARD_Synonym__c":"deficiency of isolated coq cytochrome c reductase; deficiency of mitochondrial complex iii; deficiency of ubiquinone cytochrome c oxidoreductase; isolated coenzyme q-cytochrome c reductase deficiency; isolated complex iii deficiency; isolated coq-cytochrome c reductase deficiency; isolated mitochondrial respiratory chain complex iii deficiency; isolated ubiquinone-cytochrome c reductase deficiency; mc3dn1; mitochondrial respiratory chain complex iii deficiency","Name":"Mitochondrial complex III deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"},{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1460"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1460"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1460"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008295","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852372","Source__c":"C1852372","Xref__c":"C1852372"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111139","Source__c":"MONDO:0015448","Xref__c":"DOID:0111139"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377658","Source__c":"C1852372","Xref__c":"MEDGEN:377658"},{"URL__c":"https://www.orpha.net/en/disease/detail/1460","Source__c":"C1852372; MONDO:0015448; ORPHA:1460","Xref__c":"ORPHA:1460"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015448","Source__c":"GARD:0008295","Xref__c":"MONDO:0015448"},{"URL__c":"https://medlineplus.gov/genetics/condition/mitochondrial-complex-iii-deficiency","Source__c":"GARD:0008295","Xref__c":"https://medlineplus.gov/genetics/condition/mitochondrial-complex-iii-deficiency"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=709414007","Source__c":"C1852372","Xref__c":"709414007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UQCC2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TTC19","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"UQCRQ","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BCS1L","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bcs1l","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CYC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"UQCRC2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"UQCRB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"UQCRFS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"UQCC3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LYRM7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-CYB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-cyb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Mitochondrial inheritance"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["deficiency of isolated coq cytochrome c reductase"," deficiency of mitochondrial complex iii"," deficiency of ubiquinone cytochrome c oxidoreductase"," isolated coenzyme q-cytochrome c reductase deficiency"," isolated complex iii deficiency"," isolated coq-cytochrome c reductase deficiency"," isolated mitochondrial respiratory chain complex iii deficiency"," isolated ubiquinone-cytochrome c reductase deficiency"," mc3dn1"," mitochondrial respiratory chain complex iii deficiency"]}