{"orpha":321,"name":"Multiple osteochondromas","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bessel-Hagen disease","Multiple cartilaginous exostoses"],"definition":"A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-321/","orphanet_url":"https://www.orpha.net/en/disease/detail/321","names":{"fr":{"name":"Maladie des exostoses multiples","synonyms":["Maladie de Bessel-Hagen","Ostéochondromes multiples"],"definition":"Maladie osseuse primaire caractérisée par le développement de deux ou plusieurs excroissances osseuses recouvertes de cartilage (ostéochondromes) à la surface des os."},"de":{"name":"Osteochondrome, multiple","synonyms":["Bessel-Hagen-Krankheit","Multiple kartilaginären Exostosen"],"definition":"Eine primäre Knochenerkrankung, die durch die Entwicklung von zwei oder mehr knorpelüberzogenen Knochenauswüchsen (Osteochondromen) an der Knochenoberfläche gekennzeichnet ist."},"es":{"name":"Osteocondromas múltiples","synonyms":["Enfermedad de Bessel-Hagen","Exostosis cartilaginosa múltiple"],"definition":"Es un trastorno óseo primario caracterizado por el desarrollo de dos o más excrecencias óseas cubiertas de cartílago (osteocondromas) en la superficie de los huesos."},"it":{"name":"Osteocondromi multipli","synonyms":["EXT1/EXT2-CDG","Esostosi cartilaginee multiple","Malattia di Bessel-Hagen"],"definition":"Si tratta di una malattia scheletrica primitiva, caratterizzata dalla presenza di due o più escrescenze ossee rivestite di cartilagine (osteocondromi) sulla superficie delle ossa."},"nl":{"name":"Multipele osteochondromen","synonyms":["Meervoudige kraakbeenexostosen","Ziekte van Bessel-Hagen"],"definition":"Een primaire aandoening van bot, gekenmerkt door ontwikkeling van twee of meer met kraakbeen bedekte, benige uitwassen (osteochondromen) aan het oppervlak van botten."},"pt":{"name":"Osteocondromas múltiplos","synonyms":["Exostoses cartilagíneas múltiplas"],"definition":"Doença óssea primária caracterizada pelo desenvolvimento de duas ou mais protuberâncias ósseas cobertas por cartilagem (osteocondromas) na superfície dos ossos."},"pl":{"name":"Mnogie kostniakochrzęstniaki","synonyms":["Choroba Bessela i Hagena","Mnogie wyrośla chrzęstne"]},"cs":{"name":"Mnohočetná osteochondromatóza","synonyms":["Bessel-Hagenova nemoc","EXT1/EXT2-CDG","Mnohočetné kartilaginózní exostózy"]},"uk":{"name":"Множинні остеохондроми","synonyms":["Хвороба Бесселя-Хагена","Множинні хрящові екзостози"],"definition":"A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones."},"zh":{"name":"多发性骨软骨瘤","synonyms":["多发性软骨外生骨疣"]},"tr":{"name":"Çoklu osteokondrom","synonyms":["Bessel-Hagen hastalığı","çoklu kıkırdak ekzostozlar"]}},"xrefs":[{"source":"OMIM","code":"133700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"133701","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600209","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD24.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1578364807"},{"source":"MONDO","code":"0005508","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"5508","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206641","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7035","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","classifications":[147,156]},{"orpha":309450,"name":"Disorder of O-xylosylglycan synthesis","classifications":[150,156]},{"orpha":183527,"name":"Genetic bone tumor","classifications":[156]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]},{"orpha":68411,"name":"Rare bone tumor","classifications":[199,202]}],"children":[],"genes":[{"symbol":"EXT2","name":"exostosin glycosyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301413[PMID]","hgnc":"3513","ensembl":"ENSG00000151348","omim":"608210","loci":["11p11.2"]},{"symbol":"EXT1","name":"exostosin glycosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301413[PMID]","hgnc":"3512","ensembl":"ENSG00000182197","omim":"608177","loci":["8q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":100.0,"area":"Specific population","status":"Validated","source":"13754517[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"United Kingdom","status":"Validated","source":"6417335[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.35,"area":"Netherlands","status":"Validated","source":"1856833[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"United States","status":"Validated","source":"8027127[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-24","source":"32253147[PMID]_20301413[PMID]","terms":[{"hpo":"HP:0030431","label":"Osteochondroma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002763","label":"Abnormal cartilage morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040069","label":"Abnormal lower limb bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003959","label":"Deformed forearm bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005922","label":"Abnormal hand morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025232","label":"Bursitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003977","label":"Deformed radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030883","label":"Femoroacetabular impingement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009821","label":"Forearm undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010501","label":"Limitation of knee mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006385","label":"Short lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032510","label":"Tendon pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001191","label":"Abnormal carpal morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001850","label":"Abnormality of the tarsal bones","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0020110","label":"Bone fracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002318","label":"Cervical myelopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006765","label":"Chondrosarcoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012151","label":"Hemothorax","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003406","label":"Peripheral nerve compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031625","label":"Pseudoaneurysm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000896","label":"Rib exostoses","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000918","label":"Scapular exostoses","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008443","label":"Spinal deformities","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004684","label":"Talipes valgus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002144","label":"Tethered cord","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Very rare (<4-1%)","criteria":null}]}}