{"orpha":3314,"name":"Thiemann disease, familial form","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aseptic necrosis of phalangeal epiphyses","Osteochondrosis of phalangeal epiphyses"],"definition":"A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3314/","orphanet_url":"https://www.orpha.net/en/disease/detail/3314","names":{"fr":{"name":"Maladie de Thiemann familiale","synonyms":["Nécrose aseptique des épiphyses phalangiennes","Ostéochondrite des épiphyses des phalanges","Ostéochondrite des épiphyses phalangiennes"],"definition":"Maladie osseuse nécrotique génétique très rare caractérisée cliniquement par un gonflement indolore des articulations interphalangiennes proximales associée à une ostéonécrose des épiphyses, suivi d'anomalies ostéo-arthritiques, apparaissant avant 25 ans et dont l'évolution est souvent bénigne."},"de":{"name":"Thiemann-Krankheit, familiäre Form","synonyms":["Aseptische Osteonekrose der Phalangenepiphysen","Familiäre Osteoarthropathie der Finger","Osteochondrose der Phalangenepiphysen"],"definition":"Eine sehr seltene genetisch bedingte nekrotische Knochenerkrankung, die klinisch durch eine schmerzlose Schwellung der proximalen Interphalangealgelenke in Verbindung mit einer Osteonekrose der Epiphysen gekennzeichnet ist, gefolgt von osteoarthritischen Veränderungen, die vor dem 25. Lebensjahr auftreten und oft einen gutartigen Verlauf nehmen."},"es":{"name":"Enfermedad de Thiemann forma familiar","synonyms":["Necrosis aséptica de la epífisis de las falanges","Osteocondrosis de la epífisis de las falanges"],"definition":"Es un trastorno óseo necrótico genético muy poco frecuente que se caracteriza clínicamente por hinchazón indolora de las articulaciones interfalángicas proximales asociado con osteonecrosis de la epífisis y seguido por cambios osteoartríticos, con una aparición anterior a los 25 años de edad y a menudo de curso benigno."},"it":{"name":"Malattia di Thiemann, forma familiare","synonyms":["Necrosi asettica delle epifisi delle falangi","Osteocondrite delle epifisi delle falangi","Osteocondrosi delle epifisi delle falangi"],"definition":"La malattia di Thiemann è una patologia necrotica dello scheletro molto rara, di origine genetica, caratterizzata da gonfiore indolore a livello delle articolazioni interfalangee prossimali, associato a osteonecrosi delle epifisi, seguita da alterazioni osteoartrosiche, che esordisce prima dei 25 anni e spesso ha un decorso benigno."},"nl":{"name":"Ziekte van Thiemann, familiale vorm","synonyms":["Aseptische necrose van falangeale epifysen","Osteochondrose van falangeale epifysen"],"definition":"Een zeer zeldzame, genetische necrotische aandoening van bot, klinisch gekenmerkt door pijnloze zwelling van proximale interfalangeale gewrichten, geassocieerd met osteonecrose van epifysen gevolgd door osteoartritische veranderingen, met aanvang voor de leeftijd van 25 jaar en vaak een goedaardig verloop."},"pt":{"name":"Doença de Thiemann, forma familiar","synonyms":["Necrose asética das epífises falângicas","Osteocondrose das epífises falângicas"]},"pl":{"name":"Choroba Thiemanna, forma rodzinna","synonyms":["Aseptyczna martwica nasad paliczków","Zapalenie kości i chrząstek nasad paliczków","Zapalenie kości i chrząstek nasad paliczków"]},"cs":{"name":"Thiemannova nemoc, familiární forma","synonyms":["Aseptická nekróza epifýz článků prstů","Osteochondritida epifýz článků prstů","Osteochondróza epifýz článků prstů"]},"uk":{"name":"Хвороба Тімана, сімейна форма","synonyms":["Асептичний некроз епіфізів фаланг пальців","Остеохондроз епіфізів фаланг пальців"],"definition":"A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course."},"zh":{"name":"Thiemann病家族型","synonyms":["指骨骨骺无菌性坏死"]},"tr":{"name":"Thiemann hastalığı, ailesel formu","synonyms":["Falanjiyal epifizlerin osteokondrozu","Falanjiyal epifizlerin aseptik nekrozu"]}},"xrefs":[{"source":"OMIM","code":"165700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"67016273"},{"source":"MONDO","code":"0008142","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537144","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0264081","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4131","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399319,"name":"Osteochondrosis","classifications":[196,199]},{"orpha":399391,"name":"Osteochondrosis of genetic origin","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"31248428[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_31248428[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Occasional (29-5%)","criteria":null}]}}