{"orpha":280229,"name":"Pelizaeus-Merzbacher disease in female carriers","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the <i>PLP1</i> gene (Xq22).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280229/","orphanet_url":"https://www.orpha.net/en/disease/detail/280229","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher chez les femmes porteuses","definition":"La maladie de Pelizaeus-Merzbacher (PM) chez les femmes porteuses est la forme que présentent certaines femmes qui ont des mutations sur le gène <i>PLP1</i> (Xq22)."},"de":{"name":"Pelizaeus-Merzbacher-Krankheit, weibliche Überträgerinnen","definition":"Pelizaeus-Merzbacher-Krankheit (PMD) weiblicher Überträgerinnen bezeichnet den Verlauf der PMD (s. dort) bei Frauen, die heterozygot für Mutationen im <I>PLP 1</I>-Gen (Xq22) sind."},"es":{"name":"Enfermedad de Pelizaeus-Merzbacher en mujeres portadoras","definition":"La enfermedad de Pelizaeus-Merzbacher (PMD) en mujeres portadoras es la presentación de la PMD (consulte este término) en algunas mujeres portadoras de mutaciones en el gen <i>PLP1</i> (Xq22)."},"it":{"name":"Malattia di Pelizaeus-Merzbacher nelle donne portatrici","definition":"La malattia di Pelizaeus-Merzbacher (PMD) nelle femmine portatrici è la forma della malattia che si manifesta in alcune donne eterozigoti per mutazioni nel gene <i>PLP1</i> (Xq22)."},"nl":{"name":"Ziekte van Pelizaeus-Merzbacher bij vrouwelijke dragers","definition":"De ziekte van Pelizaeus-Merzbacher (PMD) bij vrouwelijke dragers is de presentatie van PMD (zie deze term) bij sommige vrouwen die drager zijn van mutaties in het <i>PLP1</i>-gen (Xq22)."},"pt":{"name":"Doença de Pelizaeus-Merzbacher em portadores do sexo feminino","definition":"A doença de Pelizaeus-Merzbacher (PMD) em portadores do sexo feminino é a apresentação da PMD (ver este termo) nalgumas mulheres portadoras de mutações no gene <i> PLP1 </ i> (Xq22)."},"pl":{"name":"Choroba Pelizaeusa i Merzbachera u kobiet nosicielek"},"cs":{"name":"Pelizaeusova-Merzbacherova nemoc u žen přenašeček","synonyms":["Pelizaeus-Merzbacherova nemoc u žen přenašeček"]},"uk":{"name":"Хвороба Пеліцея-Мерцбахера у жінок-носіїв","definition":"Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the <i>PLP1</i> gene (Xq22)."},"zh":{"name":"女性携带的佩-梅病","definition":"Pelizaeus-Merzbacher病（PMD）（见本术语）的女性携带者是携带PLP1基因（Xq22）突变（见本术语）女性PMD的某些表现形式。"},"tr":{"name":"Kadın taşıyıcılarda Pelizaeus-Merzbacher hastalığı"}},"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":"1751389523"},{"source":"MONDO","code":"0017224","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5438815","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":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-07","source":"26279330[PMID]_21623770[PMID]_25831654[PMID]","terms":[{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010936","label":"Abnormality of the lower urinary tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030784","label":"Anomia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032044","label":"Decreased vigilance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032588","label":"Hand apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007413","label":"Nevus flammeus of the forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null}]}}