{"orpha":280270,"name":"Pelizaeus-Merzbacher-like disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PMLD"],"definition":"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280270/","orphanet_url":"https://www.orpha.net/en/disease/detail/280270","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher-like","synonyms":["PMLD"],"definition":"La maladie de Pelizaeus-Merzbacher-like (PML) est une leucodystrophie autosomique récessive partageant des traits cliniques et radiologiques communs avec la maladie de Pelizaeus-Merzbacher liée à l'X."},"de":{"name":"Pelizaeus-Merzbacher-ähnliche Krankheit","synonyms":["PMLD"],"definition":"Die Pelizaeus-Merzbacher-ähnliche Krankheit (PMLD) ist eine autosomal-rezessiv vererbte Leukodystrophie, deren klinische und radiologische Symptome sich mit denen der X-chromosomalen Pelizaeus-Merzbacher-Krankheit (PMD; s. dort) überschneiden."},"es":{"name":"Enfermedad similar a Pelizaeus-Merzbacher","synonyms":["Enfermedad de Pelizaeus-Merzbacher-like","PMLD"],"definition":"La enfermedad tipo Pelizaeus-Merzbacher (PMLD) es una leucodistrofia autosómica recesiva que comparte idénticas características clínicas y radiológicas con la enfermedad de Pelizaeus-Merzbacher (PMD) ligada al X (consulte este término)."},"it":{"name":"Malattia Pelizaeus-Merzbacher-simile","synonyms":["PMLD"],"definition":"La malattia simile alla malattia di Pelizaeus-Merzbacher (PMLD) è una leucodistrofia autosomica recessiva che condivide gli stessi segni clinici e radiologici della malattia legata all'X di Pelizaeus-Merzbacher (si veda questo termine)."},"nl":{"name":"Pelizaeus-Merzbacher-achtige ziekte","synonyms":["PMLD"],"definition":"Pelizaeus-Merzbacher-achtige ziekte (PMLD) is een autosomaal recessieve leukodystrofie met identieke klinische en radiologische kenmerken als de X-gebonden ziekte van Pelizaeus-Merzbacher (PMD; zie deze term)."},"pt":{"name":"Doença Pelizaeus-Merzbacher-like","synonyms":["PMLD"],"definition":"A doença de Pelizaeus-Merzbacher-like (PMLD) é uma leucodistrofia autossómica recessiva que partilha aspetos clínicos e radiológicos idênticos com a doença de Pelizaeus-Merzbacher ligada ao X (PMD; ver este termo)."},"pl":{"name":"Choroba podobna do choroby Pelizaeusa i Merzbachera","synonyms":["PMLD"]},"cs":{"name":"Nemoc podobná Pelizaeusově-Merzbacherově","synonyms":["PMLD","Nemoc podobná Pelizaeus-Merzbacherově"]},"uk":{"name":"Хвороба Пеліцея-Мерцбахера","synonyms":["PMLD"],"definition":"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)."},"zh":{"name":"佩-梅样病","synonyms":["PMLD"],"definition":"Pelizaeus-Merzbacher样病（PMLD）是一种常染色体隐性遗传脑白质营养不良，与X-连锁Pelizaus-Merzbacher病（PMD）具有相同的临床和放射学特征。"},"tr":{"name":"Pelizaeus-Merzbacher-benzeri hastalık","synonyms":["PMLD"]}},"xrefs":[{"source":"OMIM","code":"260600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300523","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608804","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612233","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1101042369"},{"source":"MONDO","code":"0017226","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274084","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12300","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]}],"children":[{"orpha":280293,"name":"Pelizaeus-Merzbacher-like disease due to AIMP1 mutation","type":"Clinical subtype"},{"orpha":280282,"name":"Pelizaeus-Merzbacher-like disease due to GJC2 mutation","type":"Clinical subtype"},{"orpha":280288,"name":"Pelizaeus-Merzbacher-like disease due to HSPD1 mutation","type":"Clinical subtype"}],"genes":[{"symbol":"MAL","name":"mal, T cell differentiation protein (MAL blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35217805[PMID]","hgnc":"6817","ensembl":"ENSG00000172005","omim":"188860","loci":["2q11.1"]}],"genes_via_subtypes":[{"symbol":"AIMP1","name":"aminoacyl tRNA synthetase complex interacting multifunctional protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21092922[PMID]","hgnc":"10648","ensembl":"ENSG00000164022","omim":"603605","loci":["4q24"],"via":{"orpha":280293,"name":"Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"}},{"symbol":"GJC2","name":"gap junction protein gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22669416[PMID]_24374284[PMID]","hgnc":"17494","ensembl":"ENSG00000198835","omim":"608803","loci":["1q42.13"],"via":{"orpha":280282,"name":"Pelizaeus-Merzbacher-like disease due to GJC2 mutation"}},{"symbol":"HSPD1","name":"heat shock protein family D (Hsp60) member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18571143[PMID]","hgnc":"5261","ensembl":"ENSG00000144381","omim":"118190","loci":["2q33.1"],"via":{"orpha":280288,"name":"Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}