{"orpha":280210,"name":"Pelizaeus-Merzbacher disease, connatal form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Connatal PMD","Pelizaeus-Merzbacher disease type II","Severe PMD"],"definition":"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280210/","orphanet_url":"https://www.orpha.net/en/disease/detail/280210","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher, forme néonatale","synonyms":["Maladie de Pelizaeus-Merzbacher type II","PMD néonatale","PMD sévère"],"definition":"La maladie de Pelizaeus-Merzbacher, forme néonatale est la forme la plus sévère de la maladie de Pelizaeus-Merzbacher."},"de":{"name":"Pelizaeus-Merzbacher-Krankheit, konnatale Form","synonyms":["PMD, konnataler Typ","PMD, schwere Form","Pelizaeus-Merzbacher-Krankheit, kongenitale Form, Type II"],"definition":"Die konnatale Form der Pelizaeus-Merzbacher-Krankheit (PMD) ist die schwerste Form der PMD (s. dort)."},"es":{"name":"Enfermedad de Pelizaeus-Merzbacher, forma connatal","synonyms":["Enfermedad de Pelizaeus-Merzbacher connatal tipo II","PMD connatal","PMD grave"],"definition":"La forma connatal de la enfermedad de Pelizaeus-Merzbacher (PMD) es la forma más grave de la PMD (consulte este término)."},"it":{"name":"Malattia di Pelizaeus-Merzbacher, forma connatale","synonyms":["Malattia di Pelizaeus-Merzbacher, tipo II connatale","PMD connatale","PMD grave"],"definition":"La forma connatale della malattia Pelizaeus-Merzbacher (PMD) è la forma più grave della PMD (si veda questo termine)."},"nl":{"name":"Ziekte van Pelizaeus-Merzbacher, connatale vorm","synonyms":["Connatale PMD","Ernstige PMD","Type II connatale ziekte van Pelizaeus-Merzbacher"],"definition":"De connatale vorm van de ziekte van Pelizaeus-Merzbacher (PMD) is de meest ernstige vorm van PMD (zie deze term)."},"pt":{"name":"Doença de Pelizaeus-Merzbacher, forma neonatal","synonyms":["Doença de Pelizaeus-Merzbacher neonatal, tipo II","PMD grave","PMD neonatal"],"definition":"A forma congénita da doença de Pelizaeus-Merzbacher (PMD) é a forma mais grave da PMD (ver este termo)."},"pl":{"name":"Choroba Pelizaeusa i Merzbachera, postać wrodzona","synonyms":["Choroba Pelizaeusa i Merzbachera typu II","Ciężka PMD","Wrodzona PMD"]},"cs":{"name":"Pelizaeusova-Merzbacherova nemoc, konatální forma","synonyms":["Konatální PMD","Pelizaeusova-Merzbacherova nemoc, typ II","Těžký PMD","Pelizaeus-Merzbacherova nemoc, konatální forma","Pelizaeus-Merzbacherova nemoc, typ II"]},"uk":{"name":"Хвороба Пеліцея-Мерцбахера, коннатальна форма","synonyms":["Коннатальна PMD","Хвороба Пеліцея-Мерцбахера, тип II","Важка PMD"],"definition":"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)."},"zh":{"name":"先天型Pelizaeus-Merzbacher病（简称佩-梅病）","synonyms":["II型先天性us-Merzbacher病（简称佩-梅病）"],"definition":"先天性Pelizaeus-Merzbacher病是PMD最严重的形式（见本术语）。"},"tr":{"name":"Pelizaeus-Merzbacher hastalığı, konnatal formu","synonyms":["Ağır PMD","Konnatal PMD","Pelizaeus-Merzbacher hastalığı tipi II"]}},"xrefs":[{"source":"OMIM","code":"312080","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1118374715"},{"source":"MONDO","code":"0017221","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679776","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":702,"name":"Pelizaeus-Merzbacher disease","classifications":[156,181,189]}],"children":[],"genes":[{"symbol":"PLP1","name":"proteolipid protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301361[PMID]","hgnc":"9086","ensembl":"ENSG00000123560","omim":"300401","loci":["Xq22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-06","source":"20301361[PMID]_19396823[PMID]_32809357[PMID]","terms":[{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0430015","label":"Abnormal morphology of musculature of pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040330","label":"Confluent hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031954","label":"Dystonic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006511","label":"Laryngeal stridor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012043","label":"Pendular nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030187","label":"Titubation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}