{"orpha":88619,"name":"Familial acute necrotizing encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADANE","Recurrent acute necrotizing encephalopathy"],"definition":"Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88619/","orphanet_url":"https://www.orpha.net/en/disease/detail/88619","names":{"fr":{"name":"Encéphalopathie nécrosante aiguë familiale","synonyms":["ADANE","Encéphalopathie nécrosante aiguë récurrente"],"definition":"Le syndrome d'ADANE, ou encéphalopathie nécrosante aiguë familiale, est une maladie neurologique potentiellement fatale, caractérisée par des lésions neuropathologiques associant en particulier une atteinte du tronc cérébral, du thalamus et du putamen."},"de":{"name":"Enzephalopathie, akute nekrotisierende, familiäre Form","synonyms":["ADANE","Familiäre akute nekrotisierende Enzephalopatie","Rekurrente akute nekrotisierende Enzephalopathie"],"definition":"Die Familiäre akute nekrotisierende Enzephalopatie oder ADANE ist eine potentiell letale neurologische Erkrankung mit neuropathologischen Läsionen im Hirnstamm, Thalamus und Putamen."},"es":{"name":"Encefalopatía aguda necrosante familiar","synonyms":["ADANE","Encefalopatía aguda necrosante recurrente"],"definition":"La encefalopatía aguda necrosante familiar o ADANE es una enfermedad neurológica potencialmente mortal caracterizada por lesiones neuropatológicas que involucran principalmente al tronco encefálico, al tálamo y al putamen."},"it":{"name":"Encefalopatia necrotizzante acuta familiare","synonyms":["ADANE","Encefalopatia necrotizzante acuta ricorrente"]},"nl":{"name":"Familiale acute necrotiserende encefalopathie","synonyms":["ADANE","Recidiverende acute necrotiserende encefalopathie"],"definition":"Familiale acute necrotiserende encefalopathie of ADANE is een potentieel fatale neurologische ziekte, gekenmerkt door neuropathologische laesies die vooral hersenstam, thalamus en putamen treffen."},"pt":{"name":"Encefalopatia necrotizante, aguda, autossómica dominante"},"pl":{"name":"Rodzinna ostra encefalopatia martwicza","synonyms":["ADANE","Nawracająca ostra encefalopatia martwicza"]},"cs":{"name":"Familiární akutní nekrotizující encefalopatie","synonyms":["ADANE","Rekurentní akutní nekrotizující encefalopatie"]},"uk":{"name":"Сімейна гостра некротизуюча енцефалопатія","synonyms":["АДАНЕ","Рецидивуюча гостра некротизуюча енцефалопатія"],"definition":"Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen."},"zh":{"name":"家族性急性坏死性脑病","synonyms":["复发性急性出血性脑白质炎"]},"tr":{"name":"ailesel akut nekrotizan ensefalopati","synonyms":["ADANE","Tekrarlayan akut nekrotizan ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"608033","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011953","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509836","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13232","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RANBP2","name":"RAN binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19807769[PMID]_19811512[PMID]","hgnc":"9848","ensembl":"ENSG00000153201","omim":"601181","loci":["2q13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"12874403[PMID]_19118815[PMID]_21205700[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12874403[PMID]_19118815[PMID]_21205700[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-27","source":"19118815[PMID]_12874403[PMID]","terms":[{"hpo":"HP:0006846","label":"Acute encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012747","label":"Abnormal brainstem MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031982","label":"Abnormal putamen morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025404","label":"Abnormal visual fixation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010663","label":"Abnormality of thalamus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011887","label":"Choroid hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null}]}}