{"Name":"Progressive cavitating leukoencephalopathy","DiseaseID__c":"GARD:0019918","id":19918,"encodedName":"progressive-cavitating-leukoencephalopathy","IsDeleted":false,"Disease_Name_Full__c":"Progressive cavitating leukoencephalopathy","Xref_IDs__c":"719267003; C4304840; MEDGEN:930509; MONDO:0015349; ORPHA:139447","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015349","Disease_Description__c":"A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.","GARD_Name__c":"Progressive cavitating leukoencephalopathy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0015349","Curated_Disease_Description__c":"A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:139447","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015349","ORPHANET_ID__c":"ORPHA:139447","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucoencefalopatía cavitada progresiva","Spanish_Description_Source__c":"ORPHA:139447","Spanish_Description__c":"Es una leucoencefalopatía poco frecuente caracterizada por episodios graves de déficit neurológico (ataxia, disartria, crisis epilépticas...), junto a irritabilidad y opistótonos seguidos por un deterioro continuo, o bien por la alternancia de periodos de progresión rápida con otros prolongados de estabilidad.","Spanish_Disease_Name__c":"leucoencefalopatía cavitada progresiva","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 leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.","Curated_Disease_Description_Source__c":"MONDO:0015349","Name":"Progressive cavitating leukoencephalopathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Leukodystrophy Foundation","Website__c":"https://ulf.org/"},{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.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":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:139447"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:139447"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930509","Source__c":"C4304840","Xref__c":"MEDGEN:930509"},{"URL__c":"https://www.orpha.net/en/disease/detail/139447","Source__c":"C4304840; MONDO:0015349; ORPHA:139447","Xref__c":"ORPHA:139447"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304840","Source__c":"C4304840","Xref__c":"C4304840"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719267003","Source__c":"C4304840; MONDO:0015349","Xref__c":"719267003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015349","Source__c":"GARD:0019918","Xref__c":"MONDO:0015349"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NDUFV2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Leukodystrophy"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":[""]}