{"Name":"FASTKD2-related infantile mitochondrial encephalomyopathy","DiseaseID__c":"GARD:0017026","id":17026,"encodedName":"fastkd2-related-infantile-mitochondrial-encephalomyopathy","IsDeleted":false,"Disease_Name_Full__c":"FASTKD2-related infantile mitochondrial encephalomyopathy","Xref_IDs__c":"778029000; C4755278; MEDGEN:1665220; MONDO:0015632; ORPHA:166105","USA_Estimate__c":"1,000","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":"1 to 8,000","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":3,"Description_Source__c":"ORPHA:166105","Disease_Description__c":"FASTKD2-related infantile mitochondrial encephalomyopathy is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.","GARD_Name__c":"FASTKD2-related infantile mitochondrial encephalomyopathy","GARD_Synonym__c":"fast kinase domains 2-related infantile mitochondrial encephalomyopathy","Curated_Disease_Description_Source__c":"ORPHA:166105","Curated_Disease_Description__c":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:166105","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015632","ORPHANET_ID__c":"ORPHA:166105","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalomiopatía mitocondrial del lactante asociada a fastkd2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"encefalomiopatía mitocondrial del lactante asociada a fastkd2","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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 infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.","Curated_Disease_Description_Source__c":"ORPHA:166105","GARD_Synonym__c":"fast kinase domains 2-related infantile mitochondrial encephalomyopathy","Name":"FASTKD2-related infantile mitochondrial encephalomyopathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:166105"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:166105"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:166105"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1665220","Source__c":"C4755278","Xref__c":"MEDGEN:1665220"},{"URL__c":"https://www.orpha.net/en/disease/detail/166105","Source__c":"C4755278; MONDO:0015632; ORPHA:166105","Xref__c":"ORPHA:166105"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755278","Source__c":"C4755278","Xref__c":"C4755278"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778029000","Source__c":"C4755278","Xref__c":"778029000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015632","Source__c":"GARD:0017026","Xref__c":"MONDO:0015632"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FASTKD2","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","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["fast kinase domains 2-related infantile mitochondrial encephalomyopathy"]}