{"orpha":85193,"name":"Idiopathic juvenile osteoporosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["IJO","Juvenile osteoporosis"],"definition":"Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85193/","orphanet_url":"https://www.orpha.net/en/disease/detail/85193","names":{"fr":{"name":"Ostéoporose idiopathique juvénile","synonyms":["IJO","OIJ","Ostéoporose juvénile"],"definition":"L'ostéoporose idiopathique juvénile (OIJ) est une déminéralisation osseuse primitive qui se manifeste par des douleurs du dos et des extrémités, des difficultés à la marche, des fractures multiples et des signes radiologiques d'ostéoporose."},"de":{"name":"Osteoporose, idiopathische juvenile","synonyms":["IJO","Osteoporose, juvenile"],"definition":"Die Idiopathische juvenile Osteoporose (IJO) ist eine demineralisierende Knochenkrankheit. Symptome sind Knochenschmerzen (Rücken und Extremitäten), Schwierigkeiten beim Gehen, multiple Frakturen und radiologische Osteoporosezeichen."},"es":{"name":"Osteoporosis juvenil idiopática","synonyms":["OJI","Osteoporosis juvenil"],"definition":"La osteoporosis juvenil idiopática (IJO) es una condición primaria de desmineralización del hueso, caracterizada por dolor en la espalda y en las extremidades, dificultades al andar, fracturas múltiples y evidencia radiológica de osteoporosis."},"it":{"name":"Osteoporosi giovanile idiopatica","synonyms":["IJO","Osteoporosi giovanile"]},"nl":{"name":"Idiopathische juveniele osteoporose","synonyms":["IJO","Juveniele osteoporose"],"definition":"Idiopathische juveniele osteoporose (IJO) is een primaire aandoening van botdemineralisatie die zich presenteert met pijn in rug en extremiteiten, moeilijkheden met lopen, multipele fracturen, en radiologisch bewijs van osteoporose."},"pt":{"name":"Osteoporose juvenil","definition":"A osteoporose idiopática juvenil (IJO) é uma doença primária de desmineralização óssea que se apresenta com dores nas costas e extremidades, dificuldades na marcha, fracturas múltiplas e evidência radiológica de osteoporose."},"pl":{"name":"Idiopatyczna osteoporoza młodzieńcza","synonyms":["IJO","Osteoporoza młodzieńcza"]},"cs":{"name":"Idiopatická juvenilní osteoporóza","synonyms":["IJO","Juvenilní osteoporóza"]},"uk":{"name":"Ідіопатичний ювенільний остеопороз","synonyms":["IJO","Ювенільний остеопороз"],"definition":"Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis."},"zh":{"name":"特发性青少年骨质疏松症","synonyms":["青少年骨质疏松症"]},"tr":{"name":"İdiyopatik jüvenil osteoporoz","synonyms":["IJO","Jüvenil osteoporoz"]}},"xrefs":[{"source":"OMIM","code":"259750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615221","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M81.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB83.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"183642011"},{"source":"MONDO","code":"0019409","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537700","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0264080","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6760","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088561","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]},{"orpha":486955,"name":"Rare pediatric rheumatologic disease","classifications":[231]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[{"symbol":"DKK1","name":"dickkopf Wnt signaling pathway inhibitor 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22789636[PMID]","hgnc":"2891","ensembl":"ENSG00000107984","omim":"605189","loci":["10q21.1"]},{"symbol":"WNT1","name":"Wnt family member 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23499309[PMID]","hgnc":"12774","ensembl":"ENSG00000125084","omim":"164820","loci":["12q13.12"]},{"symbol":"WNT3A","name":"Wnt family member 3A","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22789636[PMID]","hgnc":"15983","ensembl":"ENSG00000154342","omim":"606359","loci":["1q42.13"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002953","label":"Vertebral compression fracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null}]}}