{"orpha":391330,"name":"X-linked osteoporosis with fractures","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391330/","orphanet_url":"https://www.orpha.net/en/disease/detail/391330","names":{"fr":{"name":"Ostéoporose liée à l'X avec fractures","definition":"Dysplasie osseuse primaire rare d'origine génétique, caractérisée par une ostéoporose à début infantile associée à de multiples fractures récurrentes et ostéoporotiques des os longs et/ou à des fractures vertébrales par compression, une perte de poids significative à l'âge adulte, de faibles scores de densité minérale osseuse, en l'absence d'autres anomalies. Les femmes hétérozygotes peuvent ne pas être atteintes de la maladie ou ne présenter qu'un phénotype léger."},"de":{"name":"Osteoporose mit Knochenbrüchen, X-chromosomal"},"es":{"name":"Osteoporosis ligada al cromosoma X con fracturas","definition":"Es una displasia ósea primaria, genética y poco frecuente, con disminución de la densidad ósea. Se caracteriza por osteoporosis de inicio en la infancia asociada a fracturas recurrentes, múltiples, osteoporóticas de huesos largos y/o fracturas vertebrales por compresión, pérdida significativa de altura en la edad adulta y baja densidad mineral ósea, sin otras anomalías. Las mujeres heterocigotas pueden no verse afectadas o presentar un fenotipo más leve."},"it":{"name":"Osteoporosi legata all'X con fratture","definition":"L'osteoporosi legata all'X con fratture è una displasia scheletrica primitiva genetica rara, associata ad una diminuzione della densità ossea, caratterizzata da osteoporosi ad esordio infantile con fratture osteoporotiche multiple ricorrenti delle ossa lunghe e/o fratture vertebrali da compressione, significativa riduzione della statura nell'età adulta e scarsa densità minerale ossea. Non si osservano altre anomalie. Le femmine eterozigoti possono essere asintomatiche oppure presentare un quadro clinico più sfumato."},"nl":{"name":"X-gebonden osteoporose met fracturen","definition":"X-gebonden osteoporose met fracturen is een zeldzame, genetische, primaire botdysplasie met verminderde botdensiteit die wordt gekarakteriseerd door in de kindertijd aanvangende osteoporose geassocieerd met herhaaldelijke, meervoudige, osteoporotische, fracturen van pijpbeenderen en/of compressiefracturen van wervels, significant verlies van lichaamslengte in de volwassenheid, lage waarden van botmineraaldichtheid, en voor het overige geen andere afwijkingen. Heterozygote vrouwen zijn mogelijk niet getroffen of vertonen een milder fenotype."},"pt":{"name":"Osteoporose com fracturas, ligada ao cromossoma X"},"pl":{"name":"Osteoporoza ze złamaniami sprzężona z chromosomem X","definition":"*Osteoporoza ze złamaniami sprzężona z chromosomem X jest rzadką, genetycznie uwarunkowaną, pierwotną dysplazją kostną, przebiegającą z zmniejszoną gęstością kości. Charakteryzuje się osteoporozą o początku w dzieciństwie, której towarzyszą liczne, nawracające, osteoporotyczne złamania kości długich i/lub złamania kompresyjne kręgów, znaczne zmniejszenie wzrostu w wieku dorosłym, obniżone wskaźniki gęstości mineralnej kości; poza tym brak jest innych nieprawidłowości. Kobiety będące heterozygotami mogą nie mieć objawów lub obserwuje się u nich znacznie łagodniejszy fenotyp."},"cs":{"name":"X-vázaná osteoporóza s frakturami"},"uk":{"name":"Х-зчеплений остеопороз з переломами","definition":"A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype."},"zh":{"name":"X连锁骨质疏松伴骨折","definition":"X-连锁骨质疏松症伴骨折是一种罕见的遗传性原发性骨发育不良伴密度降低，其特征是儿童期起病的骨质疏松症伴有反复发作的多发性骨质疏松性长骨骨折和/或椎体压缩性骨折，成年后身高显著下降，骨密度评分低，其他无异常。杂合子雌性可能不受影响或具有较温和的表型。"},"tr":{"name":"Kırıklar ile seyreden X'e bağlı osteoporoz"}},"xrefs":[{"source":"OMIM","code":"300910","qualifier":"ND","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M80.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018315","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190610","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"PLS3","name":"plastin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24088043[PMID]","hgnc":"9091","ensembl":"ENSG00000102024","omim":"300131","loci":["Xq23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"24088043[PMID]_24616189[PMID]_25209159[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24088043[PMID]_24616189[PMID]_25209159[PMID]"}],"phenotypes":null}