{"Name":"Fatal infantile encephalocardiomyopathy","DiseaseID__c":"GARD:0016569","id":16569,"encodedName":"fatal-infantile-encephalocardiomyopathy","IsDeleted":false,"Disease_Name_Full__c":"Fatal infantile encephalocardiomyopathy","Xref_IDs__c":"718124006; C4273730; DOID:0050713; MEDGEN:903874; MONDO:0015487; ORPHA:1561","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015487","Disease_Description__c":"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.","GARD_Name__c":"Fatal infantile encephalocardiomyopathy","GARD_Synonym__c":"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile cox deficiency; fatal infantile cytochrome c oxidase deficiency","Curated_Disease_Description_Source__c":"MONDO:0015487","Curated_Disease_Description__c":"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.","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:1561","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015487","ORPHANET_ID__c":"ORPHA:1561","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de citocromo c oxidasa fatal del lactante","Spanish_Description_Source__c":"ORPHA:1561","Spanish_Description__c":"El déficit de citocromo C oxidasa infantil letal es una enfermedad mitocondrial muy poco frecuente que se caracteriza clínicamente por una cardioencefalomiopatía que resulta en muerte en la infancia.","Spanish_Disease_Name__c":"deficiencia de citocromo c oxidasa fatal del lactante","Spanish_GARD_Synonym__c":"cardioencefalomiopatía fatal del lactante por deficiencia de citocromo c oxidasa; deficiencia de cox fatal del lactante","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":"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.","Curated_Disease_Description_Source__c":"MONDO:0015487","GARD_Synonym__c":"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile cox deficiency; fatal infantile cytochrome c oxidase deficiency","Name":"Fatal infantile encephalocardiomyopathy","estimateUsa":""}],"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:1561"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1561"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4273730","Source__c":"C4273730","Xref__c":"C4273730"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=903874","Source__c":"C4273730","Xref__c":"MEDGEN:903874"},{"URL__c":"https://www.orpha.net/en/disease/detail/1561","Source__c":"C4273730; MONDO:0015487; ORPHA:1561","Xref__c":"ORPHA:1561"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050713","Source__c":"MONDO:0015487","Xref__c":"DOID:0050713"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718124006","Source__c":"C4273730; MONDO:0015487","Xref__c":"718124006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015487","Source__c":"GARD:0016569","Xref__c":"MONDO:0015487"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COA6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCO1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COX15","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COA5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCO2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"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":["cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency"," fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency"," fatal infantile cox deficiency"," fatal infantile cytochrome c oxidase deficiency"]}