{"orpha":280219,"name":"Pelizaeus-Merzbacher disease, classic form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic PMD"],"definition":"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280219/","orphanet_url":"https://www.orpha.net/en/disease/detail/280219","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher, forme classique","synonyms":["PMD classique"],"definition":"La maladie de Pelizaeus-Merzbacher (PM), forme classique est la forme infantile de la maladie de PM."},"de":{"name":"Pelizaeus-Merzbacher-Krankheit, klassische Form","synonyms":["PMD, klassischer Typ"],"definition":"Als klassische Form der Pelizaeus-Merzbacher-Krankheit (PMD) wird die infantile Form der PMD (s. dort) bezeichnet."},"es":{"name":"Enfermedad de Pelizaeus-Merzbacher, forma clásica","synonyms":["PMD clásica"],"definition":"La forma clásica de la enfermedad de Pelizaeus-Merzbacher (PMD) es la forma infantil de la PMD (consulte este término)."},"it":{"name":"Malattia di Pelizaeus-Merzbacher, forma classica","synonyms":["PMD classica"],"definition":"La forma classica della malattia di Pelizaeus-Merzbacher (PMD) è la forma infantile della PMD."},"nl":{"name":"Ziekte van Pelizaeus-Merzbacher, klassieke vorm","synonyms":["Klassieke PMD"],"definition":"De klassieke vorm van de ziekte van Pelizaeus-Merzbacher (PMD) is de infantiele vorm van PMD."},"pt":{"name":"Doença de Pelizaeus-Merzbacher, forma clássica","synonyms":["PMD clássica"],"definition":"A forma clássica de doença de Pelizaeus-Merzbacher (PMD) é a forma infantil da PMD."},"pl":{"name":"Choroba Pelizaeusa i Merzbachera, postać klasyczna","synonyms":["Klasyczna PMD"]},"cs":{"name":"Pelizaeusova-Merzbacherova nemoc, klasická forma","synonyms":["Klasická PMD","Pelizaeus-Merzbacherova nemoc, klasická forma"]},"uk":{"name":"Хвороба Пеліцея-Мерцбахера, класична форма","synonyms":["Класичний PMD"],"definition":"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD."},"zh":{"name":"经典型佩-梅病","synonyms":["经典型PMD"],"definition":"Pelizaeus-Merzbacher病（PMD）的典型型是婴儿型PMD。"},"tr":{"name":"Pelizaeus-Merzbacher hastalığı, klasik form","synonyms":["Klasik PMD"]}},"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":"1613420896"},{"source":"MONDO","code":"0017222","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751916","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":"1-9 / 1 000 000","value":0.17,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-06","source":"20301361[PMID]_18190592[PMID]_32809357[PMID]_24519770[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040330","label":"Confluent hyperintensity of cerebral white matter on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011203","label":"EEG with abnormally slow frequencies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007377","label":"Abnormality of somatosensory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025336","label":"Delayed ability to sit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030187","label":"Titubation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031954","label":"Dystonic gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Occasional (29-5%)","criteria":null}]}}