{"orpha":702,"name":"Pelizaeus-Merzbacher disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diffuse familial brain sclerosis","PMD","Pelizaeus-Merzbacher brain sclerosis","Sudanophilic leukodystrophy, Paelizeus-Merzbacher type"],"definition":"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-702/","orphanet_url":"https://www.orpha.net/en/disease/detail/702","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher","synonyms":["Leucodystrophie sudanophile de Pelizaeus-Merzbacher","Sclérose cérébrale de Pelizaeus-Merzbacher","Sclérose cérébrale diffuse familiale"],"definition":"La maladie de Pelizaeus-Merzbacher (PM) est une leucodystrophie liée à l'X entraînant retard de développement, nystagmus, hypotonie, spasticité et déficit intellectuel variable. On décrit 3 formes suivant l'âge d'apparition et la gravité : formes néonatale, transitoire, et classique de la maladie de PM."},"de":{"name":"Pelizaeus-Merzbacher-Krankheit","synonyms":["Hirnsklerose, diffuse familiäre","Leukodystrophie, sudanophile, Typ Pelizeus-Merzbacher","Pelizaeus-Merzbacher Hirnsklerose"],"definition":"Die Pelizaeus-Merzbacher-Krankheit (PMD), eine X-chromosomale Leukodystrophie, ist gekennzeichnet durch verzögerte Entwicklung, Nystagmus, Muskelhypotonie, Spastik und unterschiedlich schweres intellektuelles Defizit. Nach Erkrankungsalter und Schweregrad werden drei Formen unterschieden: Konnatale Form, Übergangsform und klassische PMD."},"es":{"name":"Enfermedad de Pelizaeus-Merzbacher","definition":"La enfermedad de Pelizaeus-Merzbacher (PMD) es una leucodistrofia ligada al cromosoma X caracterizada por retraso psicomotor, nistagmo, hipotonía, espasticidad y retraso mental variable. Se clasifica en tres formas según la edad de aparición y la gravedad: connatal, transitoria, y PMD clásica."},"it":{"name":"Malattia di Pelizaeus-Merzbacher","definition":"La malattia di Pelizaeus-Merzbacher (PMD) è una leucodistrofia legata all'X con ritardo dello sviluppo, nistagmo, ipotonia, spasticità e deficit cognitivo di gravità variabile. È stata classificata in 3 sottoforme, in base all'età di esordio e alla gravità: PMD connatale, transitoria e classica."},"nl":{"name":"Ziekte van Pelizaeus-Merzbacher","synonyms":["Diffuse familiale hersensclerose","Hersensclerose van Pelizaeus-Merzbacher","PMD","Sudanofiele leukodystrofie, Paelizeus-Merzbacher-type"],"definition":"Ziekte van Pelizaeus-Merzbacher (PMD) is een X-gebonden leukodystrofie gekenmerkt door een vertraagde ontwikkeling, nystagmus, hypotonie, spasticiteit en een wisselende mate van intellectuele achterstand. Het is geclassificeerd in drie subvormen op basis van de leeftijd waarop de ziekte begint en de ernst van de ziekte: connatale, transitionele en klassieke PMD (zie deze termen)."},"pt":{"name":"Disease Pelizaeus-Merzbacher","definition":"A doença de Pelizaeus-Merzbacher (PMD) é uma leucodistrofia ligada ao X, caracterizada por atraso no desenvolvimento, nistagmo, hipotonia, espasticidade e atraso mental variável. É classificada em três sub-formas com base na idade de início e gravidade: PMD neonatal, de transição e clássica (ver estes termos)."},"pl":{"name":"Choroba Pelizaeusa i Merzbachera","synonyms":["PMD"]},"cs":{"name":"Pelizaeusova-Merzbacherova nemoc","synonyms":["Difuzní familiární skleróza mozku","PMD","Pelizaeusova-Merzbacherova skleróza mozku","Sudanofilní leukodystrodie, Pelizaeusův-Merzbacherův typ","Syndrom Pelizaeusův-Merzbacherův","Pelizaeus-Merzbacherova nemoc","Pelizaeus-Merzbacherova skleróza mozku","Sudanofilní leukodystrodie, Pelizaeus-Merzbacherův typ","Syndrom Pelizaeus-Merzbacherův"]},"uk":{"name":"Хвороба Пеліцеуса-Мерцбахера","synonyms":["Дифузний сімейний склероз головного мозку","Склероз головного мозку Пеліцеуса-Мерцбахера","PMD","Суданофільна лейкодистрофія, тип Пеліцеуса-Мерцбахера"],"definition":"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)."},"zh":{"name":"佩-梅病","synonyms":["嗜苏丹型脑白质营养不良，Paelizeus-Merzbacher型"]},"tr":{"name":"Pelizaeus-Merzbacher hastalığı","synonyms":["PMD","Yaygın ailesel beyin sklerozu","Pelizaeus-Merzbacher beyin sklerozu","Sudanofilik lökodistrofi, Paelizeus-Merzbacher tipi"]}},"xrefs":[{"source":"OMIM","code":"213900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"312080","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"8A44.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1313582105"},{"source":"MONDO","code":"0010714","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020371","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0205711","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4265","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067610","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":85333,"name":"X-linked intellectual disability-spastic paraplegia with iron deposits syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[{"orpha":280234,"name":"Null syndrome","type":"Clinical subtype"},{"orpha":280229,"name":"Pelizaeus-Merzbacher disease in female carriers","type":"Clinical subtype"},{"orpha":280219,"name":"Pelizaeus-Merzbacher disease, classic form","type":"Clinical subtype"},{"orpha":280210,"name":"Pelizaeus-Merzbacher disease, connatal form","type":"Clinical subtype"},{"orpha":280224,"name":"Pelizaeus-Merzbacher disease, transitional form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":280210,"name":"Pelizaeus-Merzbacher disease, connatal form"}},{"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"],"via":{"orpha":280219,"name":"Pelizaeus-Merzbacher disease, classic form"}},{"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"],"via":{"orpha":280224,"name":"Pelizaeus-Merzbacher disease, transitional form"}},{"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"],"via":{"orpha":280229,"name":"Pelizaeus-Merzbacher disease in female carriers"}},{"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"],"via":{"orpha":280234,"name":"Null syndrome"}}],"inheritance":["X-linked dominant","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"United States","status":"Not yet validated","source":"20301361[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Germany","status":"Validated","source":"9286459[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}