{"orpha":477749,"name":"Pontine autosomal dominant microangiopathy with leukoencephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PADMAL"],"definition":"A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477749/","orphanet_url":"https://www.orpha.net/en/disease/detail/477749","names":{"fr":{"name":"Microangiopathie cérébrale pontine autosomique dominante","synonyms":["Microangiopathie cérébrale pontine autosomique dominante avec leucoencéphalopathie","PADMAL"],"definition":"Maladie génétique des petits vaisseaux cérébraux caractérisée par des accidents ischémiques cérébraux récurrents, le site de prédilection étant souvent le pont, survenant dans la quatrième ou la cinquième décennie de la vie. Les patients présentent une détérioration progressive des fonctions cognitives et motrices et des symptômes pyramidaux, bulbaires et cérébelleux. L'imagerie cérébrale met en évidence des infarctus lacunaires multiples, généralement avec une atteinte pontique, ainsi qu'une leucoencéphalopathie variable localisée au niveau des hémisphères cérébraux."},"de":{"name":"Pontine autosomal-dominante Mikroangiopathie mit Leukoenzephalopathie","synonyms":["PADMAL"],"definition":"Seltene genetisch bedingte Erkrankung der kleinen Hirngefäße, die durch rezidivierende ischämische Schlaganfälle gekennzeichnet ist, häufig mit Bevorzugung der Pons, die typischerweise im vierten oder fünften Lebensjahrzehnt auftreten. Die Patienten zeigen fortschreitende kognitive und motorische Defizite mit pyramidalen, bulbären und zerebellären Symptomen. Die zerebrale Bildgebung zeigt multiple lakunäre Infarkte, typischerweise mit Pons-Beteiligung, sowie eine variable Leukoenzephalopathie der zerebralen Hemisphären."},"es":{"name":"Microangiopatía pontina autosómica dominante con leucoencefalopatía","synonyms":["PADMAL"],"definition":"Es una enfermedad cerebral de pequeños vasos de origen genético poco frecuente caracterizada por accidentes cerebrovasculares isquémicos recurrentes, a menudo con predilección la protuberancia, que debuta típicamente en la cuarta o quinta década de la vida. Los pacientes presentan alteraciones cognitivas y motoras progresivas con síntomas piramidales, bulbares y cerebelosos, entre otros. La neuroimagen muestra múltiples infartos lacunares, afectando típicamente a la protuberancia, así como una leucoencefalopatía variable en los hemisferios cerebrales."},"it":{"name":"Microangiopatia pontina autosomica dominante con leucoencefalopatia","definition":"Si tratta di una malattia genetica rara dei piccoli vasi cerebrali, caratterizzata da ictus ischemici ricorrenti, che spesso interessano il ponte e in genere si manifestano nella quarta o quinta decade di vita. I pazienti presentano un progressivo deterioramento cognitivo e motorio con sintomi piramidali, bulbari e cerebellari. Le neuroimmagini mostrano infarti lacunari multipli, che in genere interessano il ponte, e leucoencefalopatia variabile degli emisferi cerebrali."},"nl":{"name":"Pontiene autosomaal dominante microangiopathie met leuko-encefalopathie","synonyms":["PADMAL"],"definition":"Een zeldzame, genetische aandoening van cerebrale kleine bloedvaten, gekarakteriseerd door recidiverende ischemische beroerte, vaak van pons, en doorgaans met aanvang in het vierde of vijfde levensdecennium. Patiënten vertonen progressieve cognitieve en motorische stoornissen met onder meer piramidale, bulbaire, en cerebellaire symptomen. Beeldvorming van hersenen toont multipele lacunaire infarcten, doorgaans met betrokkenheid van pons, alsook variabele leuko-encefalopathie van cerebrale hemisferen."},"pt":{"name":"Microangiopatia pontica autossómica dominante com leucoencefalopatia"},"pl":{"name":"Autosomalna dominująca mikroangiopatia mostu z leukoencefalopatią","synonyms":["PADMAL"]},"cs":{"name":"Autozomálně dominantní pontinní mikroangiopatie s leukoencefalopatií","synonyms":["PADMAL"]},"uk":{"name":"Понтинна аутосомно-домінантна мікроангіопатія з лейкоенцефалопатією","synonyms":["PADMAL"],"definition":"A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres."},"zh":{"name":"常染色体显性脑桥微血管病合并白质病","synonyms":["PADMAL"]},"tr":{"name":"Ökoensefalopati ile seyreden pontin otozomal dominant mikroanjiyopati","synonyms":["PADMAL"]}},"xrefs":[{"source":"OMIM","code":"618564","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I67.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032814","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231411","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":477762,"name":"COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COL4A1","name":"collagen type IV alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27666438[PMID]","hgnc":"2202","ensembl":"ENSG00000187498","omim":"120130","loci":["13q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"19187480[PMID]_27666438[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19187480[PMID]_27666438[PMID]"}],"phenotypes":null}