{"Name":"Encephalopathy due to mitochondrial and peroxisomal fission defect","DiseaseID__c":"GARD:0022192","id":22192,"encodedName":"encephalopathy-due-to-mitochondrial-and-peroxisomal-fission-defect","IsDeleted":false,"Disease_Name_Full__c":"Encephalopathy due to mitochondrial and peroxisomal fission defect","Xref_IDs__c":"1236807002; C5681458; MEDGEN:1814479; MONDO:0054865; OMIMPS:614388; ORPHA:527276","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:527276","Disease_Description__c":"A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.","GARD_Name__c":"Encephalopathy due to mitochondrial and peroxisomal fission defect","GARD_Synonym__c":"encephalopathy due to defective mitochondrial and peroxisomal fission","Curated_Disease_Description_Source__c":"ORPHA:527276","Curated_Disease_Description__c":"A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:527276","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0054865","ORPHANET_ID__c":"ORPHA:527276","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía por un defecto en la fisión mitocondrial y peroxisomal","Spanish_Description_Source__c":"ORPHA:527276","Spanish_Description__c":"Es una enfermedad mitocondrial poco frecuente caracterizada por un fenotipo variable que comprende retraso del desarrollo psicomotor o regresión del neurodesarrollo, hipotonía, crisis, microcefalia, atrofia óptica, signos piramidales y neuropatía periférica, entre otros. La edad de aparición y la gravedad de la enfermedad también son variables y algunos casos siguen un curso fatal en la primera infancia. Los niveles séricos de lactato pueden estar elevados. Los hallazgos en imágenes cerebrales descritos incluyen señales anómalas en los ganglios basales, atrofia cerebral y/o cerebelosa y anomalías de la sustancia blanca.","Spanish_Disease_Name__c":"encefalopatía por un defecto en la fisión mitocondrial y peroxisomal","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 mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.","Curated_Disease_Description_Source__c":"ORPHA:527276","GARD_Synonym__c":"encephalopathy due to defective mitochondrial and peroxisomal fission","Name":"Encephalopathy due to mitochondrial and peroxisomal fission defect","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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:527276"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:527276"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:527276"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS614388","Source__c":"MONDO:0054865","Xref__c":"OMIMPS:614388"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681458","Source__c":"C5681458","Xref__c":"C5681458"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814479","Source__c":"C5681458","Xref__c":"MEDGEN:1814479"},{"URL__c":"https://www.orpha.net/en/disease/detail/527276","Source__c":"C5681458; MONDO:0054865; ORPHA:527276","Xref__c":"ORPHA:527276"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1236807002","Source__c":"C5681458","Xref__c":"1236807002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0054865","Source__c":"GARD:0022192","Xref__c":"MONDO:0054865"}],"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","Pediatrics"],"Account":["Mitochondrial","Peripheral Neuropathy"]},"synonyms":["encephalopathy due to defective mitochondrial and peroxisomal fission"]}