{"orpha":363717,"name":"Alexander disease type I","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["AxD type I"],"definition":"An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363717/","orphanet_url":"https://www.orpha.net/en/disease/detail/363717","names":{"fr":{"name":"Maladie d'Alexander type I","synonyms":["AxD type I"],"definition":"La maladie d'Alexander (AxD) type I est une astrogliopathie, et la forme la plus fréquente et la plus sévère de la maladie d'Alexander. Elle se manifeste avant l'âge de quatre ans et se caractérise par des convulsions, une mégalencéphalie et un retard de développement avec détérioration progressive."},"de":{"name":"Alexander-Krankheit Typ I","synonyms":["AxD Typ I"],"definition":"Die Alexander-Krankheit Typ I (AxD Typ I), eine Astrogliopathie, ist die schwerste und häufigste Form der Alexander-Krankheit (AxD; siehe dort). Die Symptome treten in den ersten 4 Lebensjahren auf. Charakteristisch sind Krampfanfälle, Megalenzephalie, verzögerte Entwicklung und fortschreitender Abbau."},"es":{"name":"Enfermedad de Alexander tipo 1","synonyms":["AxD tipo I"],"definition":"Es una astrocitopatía y la forma más grave y habitual de la enfermedad de Alexander (AxD). Se presenta antes de los 4 años de edad y se caracteriza por convulsiones, megalencefalia y retraso psicomotor con deterioro progresivo."},"it":{"name":"Malattia di Alexander, tipo I","synonyms":["AxD, tipo I"],"definition":"La malattia di Alexander tipo I (AxD tipo I) è una patologia degli astrociti ed è la forma più grave e comune della malattia di Alexander (AxD), che esordisce prima dei 4 anni con convulsioni, megalencefalia e ritardo dello sviluppo e deterioramento progressivo."},"nl":{"name":"Ziekte van Alexander type I","synonyms":["AxD type I"],"definition":"Een astrogliopathie en de ergste en meest voorkomende vorm van ziekte van Alexander (AxD), die zich presenteert voor de leeftijd van 4 jaar en gekarakteriseerd wordt door insulten, megalencefalie en ontwikkelingsachterstand met progressieve achteruitgang."},"pt":{"name":"Doença de Alexander, tipo I"},"pl":{"name":"Choroba Alexandera typu I","synonyms":["AxD typu I"],"definition":"Choroba Alexandra typu I jest astrogliopatią oraz najcięższą i najczęstszą postacią choroby Alexandra, ujawniającą się przed 4 rokiem życia i charakteryzującą się padaczką, olbrzymią głową (olbrzymia objętość mózgu) i postępującym opóźnieniem rozwoju."},"cs":{"name":"Alexandrova choroba typ I","synonyms":["AxD typ I"]},"uk":{"name":"Хвороба Александера, тип I","synonyms":["AxD тип I"],"definition":"An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration."},"zh":{"name":"亚历山大病Ⅰ型","synonyms":["AxD1型"],"definition":"本病是一种星形胶质病，是亚历山大病(AxD)最严重和最常见的形式，患者可在4岁前出现症状，以癫痫发作、巨脑和发育迟缓为特征，并逐渐恶化。"},"tr":{"name":"Alexander hastalığı tip I","synonyms":["AxD tip I"]}},"xrefs":[{"source":"OMIM","code":"203450","qualifier":"NTBT","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":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1074952784"},{"source":"MONDO","code":"0018209","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5769581","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":58,"name":"Alexander disease","classifications":[156,181]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"23700170[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-09-16","source":"34146839[PMID]_20301351[PMID]_34865968[PMID]_34826654[PMID]_20721574[PMID]_11237983[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007183","label":"Focal T2 hyperintense basal ganglia lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004481","label":"Progressive macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100320","label":"Rosenthal fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010530","label":"Palatal myoclonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null}]}}