{"orpha":280288,"name":"Pelizaeus-Merzbacher-like disease due to HSPD1 mutation","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Mitochondrial HSP60 chaperonopathy"],"definition":null,"note":"This disease is described under Pelizaeus-Merzbacher-like disease","url":"https://raremap.alftech.space/d/ORPHA-280288/","orphanet_url":"https://www.orpha.net/en/disease/detail/280288","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher-like par mutation de HSPD1","synonyms":["Chaperonopathie mitochondriale HSP60"]},"de":{"name":"Pelizaeus-Merzbacher-ähnliche Krankheit mit HSPD1-Genmutationen","synonyms":["Hsp60-Chaperonopathie, mitochondriale"]},"es":{"name":"Enfermedad similar a Pelizaeus-Merzbacher por una mutación en el gen HSPD1","synonyms":["Chaperonopatía mitocondrial HSP60","Enfermedad de Pelizaeus-Merzbacher-like por una mutación en el gen HSPD1"]},"it":{"name":"Pelizaeus-Merzbacher-simile da mutazione di HSPD1","synonyms":["Chaperonopatia mitocondriale HSP60"]},"nl":{"name":"Pelizaeus-Merzbacher-achtige ziekte door HSPD1-mutatie","synonyms":["Mitochondriale Hsp60-chaperonopathie"]},"pt":{"name":"Doença de Pelizaeus-Merzbacher-like por mutação em HSPD1","synonyms":["Chaperonopatia HSP60 mitocondrial"]},"pl":{"name":"Choroba podobna do choroby Pelizaeusa i Merzbachera z powodu mutacji HSPD1","synonyms":["Mitochondrialna chaperonopatia HSP60"]},"cs":{"name":"Nemoc podobná Pelizaeusově-Merzbacherově nemoci, způsobená HSPD1 mutací","synonyms":["Mitochondriální HSP60 chaperonopatie","Nemoc podobná Pelizaeus-Merzbacherově nemoci, způsobená HSPD1 mutací"]},"uk":{"name":"Хвороба Пеліцея-Мерцбахера, спричинена мутацією HSPD1","synonyms":["Мітохондріальна шаперонопатія HSP60"]},"zh":{"name":"HSPD1基因变异所致佩-梅样病","synonyms":["线粒体热休克蛋白伴随病"]},"tr":{"name":"HSPD1 mutasyonuna bağlı Pelizaeus-Merzbacher-benzeri hastalık","synonyms":["Mitokondriyal HSP60 şaperonopati"]}},"xrefs":[{"source":"OMIM","code":"612233","qualifier":"E","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":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1602587432"},{"source":"MONDO","code":"0012824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567390","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677109","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":280270,"name":"Pelizaeus-Merzbacher-like disease","classifications":[156,181]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"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}