{"Name":"Acute necrotizing encephalopathy of childhood","DiseaseID__c":"GARD:0017257","id":17257,"encodedName":"acute-necrotizing-encephalopathy-of-childhood","IsDeleted":false,"Disease_Name_Full__c":"Acute necrotizing encephalopathy of childhood","Xref_IDs__c":"763310000; C4706387; MEDGEN:1641610; MONDO:0016991; ORPHA:263524","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016991","Disease_Description__c":"A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.","GARD_Name__c":"Acute necrotizing encephalopathy of childhood","GARD_Synonym__c":"anec; isolated acute necrotizing encephalopathy; isolated ane","Curated_Disease_Description_Source__c":"ORPHA:263524","Curated_Disease_Description__c":"A rare neurologic disease characterized by rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g., mycoplasma, influenza virus) in a previously healthy child. Brain MRI may reveal bilateral, multiple, symmetrical lesions predominantly in the thalami and brainstem, but also in periventricular white matter and the cerebellum in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:263524","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016991","ORPHANET_ID__c":"ORPHA:263524","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía necrotizante aguda de la infancia","Spanish_Description_Source__c":"ORPHA:263524","Spanish_Description__c":"Es una enfermedad neurológica poco frecuente caracterizada por un inicio rápido con crisis epilépticas, alteración del nivel de conciencia, deterioro neurológico y diferentes grados de disfunción hepática, después de una infección respiratoria o gastrointestinal (p. ej., micoplasma, virus de la gripe) en un niño sin otra condición médica previa. La RM cerebral de los individuos afectados revela múltiples lesiones bilaterales simétricas predominantemente en el tálamo y en el tronco cerebral, aunque en algunos casos también en la sustancia blanca periventricular y en el cerebelo.","Spanish_Disease_Name__c":"encefalopatía necrotizante aguda de la infancia","Spanish_GARD_Synonym__c":"ane aislada; anec; ena aislada; encefalopatía necrotizante aguda aislada","Category_Linearization__c":"ORPHA:68416","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 neurologic disease characterized by rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g., mycoplasma, influenza virus) in a previously healthy child. Brain MRI may reveal bilateral, multiple, symmetrical lesions predominantly in the thalami and brainstem, but also in periventricular white matter and the cerebellum in some cases.","Curated_Disease_Description_Source__c":"ORPHA:263524","GARD_Synonym__c":"anec; isolated acute necrotizing encephalopathy; isolated ane","Name":"Acute necrotizing encephalopathy of childhood","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ANE International","Website__c":"https://aneinternational.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious 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":"Rare Viral Disease","Tag_Category__c":"Cause","curated_tag_name":"Viral Infectious Diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:263524"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763310000","Source__c":"C4706387; MONDO:0016991","Xref__c":"763310000"},{"URL__c":"https://www.orpha.net/en/disease/detail/263524","Source__c":"C4706387; MONDO:0016991; ORPHA:263524","Xref__c":"ORPHA:263524"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1641610","Source__c":"C4706387","Xref__c":"MEDGEN:1641610"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706387","Source__c":"C4706387","Xref__c":"C4706387"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016991","Source__c":"GARD:0017257","Xref__c":"MONDO:0016991"}],"tags":{"Disease Category":["Infectious Disease","Neurology"],"Specialist":["Infectious Disease","Neurology","Pediatrics"],"Cause":["Rare Viral Disease"]},"synonyms":["anec"," isolated acute necrotizing encephalopathy"," isolated ane"]}