{"orpha":85195,"name":"Familial expansile osteolysis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary expansile polyostotic osteolytic dysplasia","McCabe disease"],"definition":"A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85195/","orphanet_url":"https://www.orpha.net/en/disease/detail/85195","names":{"fr":{"name":"Ostéolyse expansive familiale","synonyms":["Dysplasie polyostotique ostéolytique expansive héréditaire","Maladie de McCabe"],"definition":"Dysplasie osseuse primaire rare caractérisée par des anomalies du métabolisme osseux et des douleurs osseuses, des déformations, des fractures pathologiques, une surdité de transmission précoce et des anomalies dentaires. Les lésions osseuses focales concernent généralement le squelette appendiculaire et consistent en des lésions lytiques qui s'étendent progressivement, tandis que les troubles généralisés du modelage osseux et l'altération du trabéculum sont dus à la nature multifocale et progressive de la maladie. L'âge d'apparition est variable, le mode de transmission est autosomique dominant."},"de":{"name":"Osteolyse, expansile familiäre","synonyms":["McCabe-Krankheit","Osteolyse, expansile polyostotische, hereditäre Form"],"definition":"Eine primäre Knochendysplasie, die sich durch einen gestörten Knochenstoffwechsel auszeichnet und mit Knochenschmerzen, Deformierungen, pathologischen Frakturen, früher Schallleitungsschwerhörigkeit und Zahnanomalien einhergeht. Fokale Knochenläsionen sind typischerweise im appendikulären Skelett zu finden und bestehen aus sich progressiv ausdehnenden lytischen Bereichen, während eine generalisierte gestörte Knochenmodellierung und ein verändertes trabekuläres Muster das Ergebnis des multifokalen, progressiven Charakters der Krankheit sind. Das Alter des Ausbruchs ist variabel, der Vererbungsmodus ist autosomal-dominant."},"es":{"name":"Osteólisis expansiva familiar","synonyms":["Displasia poliostótica osteolítica expansiva hereditaria","Enfermedad de McCabe"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por un metabolismo óseo anómalo con dolor óseo, deformidades, fracturas patológicas, pérdida auditiva conductiva temprana y anomalías dentales. Las lesiones óseas focales se encuentran típicamente en el esqueleto apendicular y consisten en áreas líticas progresivamente expansivas, mientras que el modelado óseo desordenado generalizado y la alteración del patrón trabecular son el resultado de la naturaleza multifocal y progresiva de la enfermedad. La edad de inicio es variable y el modo de herencia es autosómico dominante."},"it":{"name":"Osteolisi espansiva familiare","synonyms":["Displasia poliostotica osteolitica espansiva ereditaria","Malattia di McCabe"],"definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da anomalie del metabolismo osseo, associate a dolore osseo, deformità, fratture patologiche, precoce sordità di conduzione e anomalie dei denti. Di solito si osservano lesioni ossee focali nella regione appendicolare dello scheletro, che consistono in zone litiche che si espandono progressivamente, mentre la natura multifocale e progressiva della malattia causa anomalie morfologiche generalizzate delle ossa e alterazioni della struttura trabecolare. L'età d'esordio è variabile. La trasmissione è autosomica dominante."},"nl":{"name":"Familiale expansieve osteolyse","synonyms":["Erfelijke expansieve polyostotische osteolytische dysplasie","Ziekte van McCabe"],"definition":"Een zeldzame primaire botdysplasie, gekarakteriseerd door abnormaal botmetabolisme met botpijn, misvorming, pathologische fracturen, vroeg conductief gehoorverlies, en gebitsanomalieën. Focale botlaesies worden doorgaans aangetroffen aan appendiculair skelet en bestaan uit progressief uitbreidende lytische gebieden, terwijl gegeneraliseerde verstoorde modellering van bot en gewijzigd trabeculair patroon het gevolg zijn van de multifocale, progressieve aard van de ziekte. De aanvangsleeftijd varieert en de manier van overerving is autosomaal dominant."},"pt":{"name":"Osteólise expansiva, forma familiar"},"pl":{"name":"Rodzinna osteoliza ekspansywna","synonyms":["Choroba McCabe'a","Dziedziczna ekspansywna dysplazja osteolityczna"]},"cs":{"name":"Familiární expanzilní osteolýza","synonyms":["Hereditární expanzilní polyostotická osteolytická dysplázie","McCabeova nemoc"]},"uk":{"name":"Сімейний експансивний остеоліз","synonyms":["Спадкова експансивна поліостотична остеолітична дисплазія","Хвороба Маккейба"],"definition":"A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant."},"zh":{"name":"家族性膨胀性骨质溶解","synonyms":["遗传性扩张性多骨性溶骨性发育不良"]},"tr":{"name":"Ailesel ekspansil osteoliz","synonyms":["McCabe hastalığı","Kalıtsal genişleyen poliostotik osteolitik displazi"]}},"xrefs":[{"source":"OMIM","code":"174810","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB86.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1161028858"},{"source":"MONDO","code":"0008275","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536335","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432292","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9168","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TNFRSF11A","name":"TNF receptor superfamily member 11a","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10615125[PMID]","hgnc":"11908","ensembl":"ENSG00000141655","omim":"603499","loci":["18q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":null}