{"Name":"Fatal post-viral neurodegenerative disorder","DiseaseID__c":"GARD:0021620","id":21620,"encodedName":"fatal-post-viral-neurodegenerative-disorder","IsDeleted":false,"Disease_Name_Full__c":"Fatal post-viral neurodegenerative disorder","Xref_IDs__c":"774206008; C4751597; MEDGEN:1657472; MONDO:0018316; ORPHA:391343","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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:391343","Disease_Description__c":"Fatal post-viral neurodegenerative disorder is a rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.","GARD_Name__c":"Fatal post-viral neurodegenerative disorder","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:391343","Curated_Disease_Description__c":"A rare neuroinflammatory disease characterised by the onset of ataxia, dysarthria and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinaemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:391343","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018316","ORPHANET_ID__c":"ORPHA:391343","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno neurodegenerativo postviral letal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trastorno neurodegenerativo postviral letal","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 neuroinflammatory disease characterised by the onset of ataxia, dysarthria and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinaemia.","Curated_Disease_Description_Source__c":"ORPHA:391343","Name":"Fatal post-viral neurodegenerative disorder","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:391343"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/391343","Source__c":"C4751597; MONDO:0018316; ORPHA:391343","Xref__c":"ORPHA:391343"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751597","Source__c":"C4751597","Xref__c":"C4751597"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1657472","Source__c":"C4751597","Xref__c":"MEDGEN:1657472"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=774206008","Source__c":"C4751597","Xref__c":"774206008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018316","Source__c":"GARD:0021620","Xref__c":"MONDO:0018316"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":[""]}