{"orpha":363722,"name":"Alexander disease type II","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["AxD type II"],"definition":"An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363722/","orphanet_url":"https://www.orpha.net/en/disease/detail/363722","names":{"fr":{"name":"Maladie d'Alexander type II","synonyms":["AxD type II"],"definition":"La maladie d'Alexander (AxD) type II est une astrogliopathie et un sous-type de la maladie d'Alexander. Elle se caractérise par une ataxie, des signes bulbaires, une paraparésie spastique, une myoclonie palatine et des manifestations autonomiques."},"de":{"name":"Alexander-Krankheit Typ II","synonyms":["AxD Typ II"],"definition":"Die Alexander-Krankheit Typ II (AxD Typ II), eine Astrogliopathie, ist eine Form der Alexander-Krankheit (AxD; siehe dort) und gekennzeichnet durch Ataxie, bulbäre Symptome, spastische Paraparese, Gaumen-Myoklonus und vegetative Symptome."},"es":{"name":"Enfermedad de Alexander tipo 2","synonyms":["AxD tipo II"],"definition":"Es una astrocitopatía y una forma de la enfermedad de Alexander (AxD) caracterizada por ataxia, síntomas bulbares, paraparesia espástica, mioclonía palatina y síntomas neurovegetativos."},"it":{"name":"Malattia di Alexander, tipo II","synonyms":["AxD, tipo II"],"definition":"La malattia di Alexander tipo II (AxD tipo II), patologia degli astrociti, è una forma della malattia di Alexander caratterizzata da atassia, sintomi bulbari, paraparesi spastica, mioclonia del palato e sintomi a carico del sistema autonomo."},"nl":{"name":"Ziekte van Alexander type II","synonyms":["AxD type II"],"definition":"Een astrogliopathie en een vorm van ziekte van Alexander (AxD), gekarakteriseerd door ataxie, bulbaire symptomen, spastische paraparese, palatale myoclonus en autonome symptomen."},"pt":{"name":"Doença de Alexander, tipo II"},"pl":{"name":"Choroba Alexandera typu II","synonyms":["AxD typu II"],"definition":"Choroba Alexandra typu II jest astrogliopatią i odmianą choroby Alexandra (AxD; zobacz ten termin); charakteryzuje się ataksją, objawami opuszkowymi, spastycznym niedowładem, miokloniami podniebienia i objawami autonomicznymi."},"cs":{"name":"Alexandrova choroba typ II","synonyms":["AxD typ II"]},"uk":{"name":"Хвороба Александера, тип II","synonyms":["AxD тип II"],"definition":"An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms."},"zh":{"name":"亚历山大病II型","synonyms":["AxD2型"],"definition":"一种星形胶质病，也是亚历山大病(AxD)的一种，以共济失调、延髓症状、痉挛性瘫痪、腭肌阵挛和自主神经症状为特征。"},"tr":{"name":"Alexander hastalığı tip II","synonyms":["AxD tip II"]}},"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":"MONDO","code":"0018210","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679914","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]},{"orpha":522508,"name":"Rare genetic ophthalmic disorder with cortical involvement","classifications":[156]},{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]}],"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":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"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":"2022-09-22","source":"20721574[PMID]_18684770[PMID]_34245630[PMID]_35246666[PMID]_20359319[PMID]_32779598[PMID]_20301351[PMID]","terms":[{"hpo":"HP:0011441","label":"Abnormality of the medulla oblongata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010873","label":"Cervical spinal cord atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010530","label":"Palatal myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007109","label":"Periventricular cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}