{"orpha":58,"name":"Alexander disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AxD"],"definition":"A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-58/","orphanet_url":"https://www.orpha.net/en/disease/detail/58","names":{"fr":{"name":"Maladie d'Alexander","synonyms":["AxD"],"definition":"La maladie d'Alexander (AxD) est une maladie neurodégénérative rare affectant les astrocytes, comprenant deux formes cliniques, l'AxD type I et l'AxD type II , caractérisée par différents degrés de macrocéphalie, spasticité, ataxie et convulsions, et conduisant à une régression psychomotrice et au décès."},"de":{"name":"Alexander-Krankheit","synonyms":["Alexander-Syndrom","AxD"],"definition":"Eine seltene neurodegenerative Störung der Astrozyten, die zwei klinische Formen umfasst: Alexander-Krankheit (AxD) Typ I und Typ II. Unterschiedlich schwer ausgeprägte Symptome sind: Makrozephalie, Spastik, Ataxie und Krampfanfälle, die in psychomotorischem Abbau und Tod enden."},"es":{"name":"Enfermedad de Alexander","synonyms":["AxD"],"definition":"Es un trastorno neurodegenerativo de los astrocitos poco frecuente que comprende dos formas clínicas, enfermedad de Alexander (AxD) tipo I y tipo II, que se manifesta con diversos grados de macrocefalia, espasticidad, ataxia y convulsiones, conduciendo a una regresión psicomotora y al fallecimiento."},"it":{"name":"Malattia di Alexander","synonyms":["AxD"],"definition":"La malattia di Alexander (AxD) è una patologia neurodegenerativa rara degli astrociti, che comprende due forme cliniche: l'AxD tipo I e tipo II (si vedano questi termini), che si manifestano con segni di gravità variabile, comprendenti la macrocefalia, l'atassia, le convulsioni, che esitano nella regressione psicomotoria e nel decesso."},"nl":{"name":"Ziekte van Alexander","synonyms":["AxD"],"definition":"Een zeldzame neurodegeneratieve aandoening van astrocyten die twee klinische vormen omvat, zijnde ziekte van Alexander (AxD) type I en type II, en die zich manifesteert met verschillende gradaties van macrocefalie, spasticiteit, ataxie en insulten, met psychomotorische achteruitgang en overlijden tot gevolg."},"pt":{"name":"Doença de Alexander"},"pl":{"name":"Choroba Alexandra","synonyms":["AxD"],"definition":"Rzadka choroba neurodegeneracyjna astrocytów, obejmująca dwie postacie kliniczne: chorobę Aleksandra typu I i typu II. Charakteryzuje się makrocefalią, spastycznością, ataksją i drgawkami o różnym stopniu nasilenia, prowadzi do regresu psychoruchowego i śmierci."},"cs":{"name":"Alexandrova choroba","synonyms":["AxD"]},"uk":{"name":"Хвороба Александера","synonyms":["AxD"],"definition":"A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death."},"zh":{"name":"亚历山大病","synonyms":["AxD"]},"tr":{"name":"Alexander hastalığı","synonyms":["AxD"]}},"xrefs":[{"source":"OMIM","code":"203450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2023359698"},{"source":"MONDO","code":"0008752","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D038261","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270726","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5774","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083059","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[{"orpha":363717,"name":"Alexander disease type I","type":"Clinical subtype"},{"orpha":363722,"name":"Alexander disease type II","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GFAP","name":"glial fibrillary acidic protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301351[PMID]","hgnc":"4235","ensembl":"ENSG00000131095","omim":"137780","loci":["17q21.31"],"via":{"orpha":363717,"name":"Alexander disease type I"}},{"symbol":"GFAP","name":"glial fibrillary acidic protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301351[PMID]","hgnc":"4235","ensembl":"ENSG00000131095","omim":"137780","loci":["17q21.31"],"via":{"orpha":363722,"name":"Alexander disease type II"}}],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"Japan","status":"Validated","source":"21533827[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very 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