{"orpha":2783,"name":"Autosomal dominant osteopetrosis type 1","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2783/","orphanet_url":"https://www.orpha.net/en/disease/detail/2783","names":{"fr":{"name":"Ostéopétrose autosomique dominante type 1","definition":"L'ostéopétrose autosomique dominante de type 1 est une ostéopathie condensante caractérisée par une augmentation de la densité osseuse affectant plus particulièrement la voûte crânienne."},"de":{"name":"Osteopetrose, autosomal-dominante, Typ 1","definition":"Der autosomal-dominante Typ 1 der Osteopetrose (ADO I) ist eine sklerosierende Osteopathie mit Knochenverdichtungen hauptsächlich im Schädeldach."},"es":{"name":"Osteopetrosis dominante tipo 1","definition":"Es una osteopatía esclerosante poco frecuente caracterizada por un aumento de la densidad ósea, que afecta predominantemente a la bóveda craneal."},"it":{"name":"Osteopetrosi autosomica dominante, tipo 1"},"nl":{"name":"Autosomaal dominante osteopetrose type 1","definition":"Een zeldzame, scleroserende aandoening van bot, gekenmerkt door verdichting van skelet die vooral schedeldak aantast."},"pt":{"name":"Osteopetrose autossómica dominante tipo 1"},"pl":{"name":"Autosomalna dominująca osteopetroza typu 1"},"cs":{"name":"Autozomálně dominantní osteopetróza, typ 1"},"uk":{"name":"Аутосомно-домінантний остеопетроз, тип 1","definition":"A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault."},"zh":{"name":"常染色体显性骨硬化症1型"},"tr":{"name":"Otozomal dominant osteopetroz tip 1"}},"xrefs":[{"source":"OMIM","code":"607634","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1802011368"},{"source":"MONDO","code":"0011877","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536056","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843330","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4151","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]}],"children":[],"genes":[{"symbol":"LRP5","name":"LDL receptor related protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"21600326[PMID]_12579474[PMID]","hgnc":"6697","ensembl":"ENSG00000162337","omim":"603506","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}