{"orpha":53715,"name":"Familial tumoral calcinosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. Two forms have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53715/","orphanet_url":"https://www.orpha.net/en/disease/detail/53715","names":{"fr":{"name":"Calcinose tumorale familiale","definition":"Anomalie du métabolisme phosphocalcique affectant surtout les groupes d'âge jeune. Elle se caractérise par la présence de masses calcifiées dans les régions juxta-articulaires (hanche, coude, cheville, scapula), sans atteinte articulaire. Sur le plan histologique, les lésions révèlent une nécrobiose du collagène, suivie par la formation de kystes et une réponse aux corps étrangers avec calcification. Deux formes ont été décrites: la calcinose tumorale normocalcémique et la calcinose tumorale familiale."},"de":{"name":"Tumorale Kalzinose, familiäre","definition":"Eine phosphokalzische Stoffwechselanomalie, die vor allem bei jüngeren Altersgruppen auftritt und durch verkalkte Gewebeverdichtungen in den gelenknahen Bereichen (Hüfte, Ellbogen, Knöchel und Schulterblatt) ohne Gelenkbeteiligung gekennzeichnet ist. Histologisch zeigen die Läsionen eine Kollagennekrobiose, gefolgt von Zystenbildung und einer Fremdkörperreaktion mit Verkalkung. Es wurden zwei Formen beschrieben: normokalzämische Tumorkalzinose und familiäre Tumorkalzinose."},"es":{"name":"Calcinosis tumoral familiar","definition":"Es una anomalía del metabolismo fosfocálcico, principalmente en grupos de edad joven, caracterizada por la presencia de masas calcificadas en las regiones yuxtaarticulares (cadera, codo, tobillo y escápula) sin afectación articular. Histológicamente, las lesiones muestran necrobiosis del colágeno, seguida por la formación de quistes y una respuesta de tipo cuerpo extraño con calcificación. Se han descrito dos formas: calcinosis tumoral normocalcémica y calcinosis tumoral familiar."},"it":{"name":"Calcinosi tumorale familiare","definition":"La calcinosi tumorale è un'anomalia del metabolismo calcio-fosforo, che si manifesta prevalentemente in età giovanile. E' caratterizzata dalla presenza di masse calcifiche nelle regioni peri-articolari (anche, gomiti, caviglie e scapole), in assenza di un interessamento articolare. Dal punto di vista istologico, le lesioni mostrano la necrobiosi del collagene, seguita dalla formazione di cisti e da una reazione da corpo estraneo con calcificazione. Sono state descritte due forme di calcinosi tumorale: la calcinosi tumorale normocalcemica e la calcinosi tumorale familiare."},"nl":{"name":"Familiale tumorale calcinose","definition":"Een anomalie van metabolisme van calcium en fosfaat, die vooral optreedt bij jongere leeftijdsgroepen, gekenmerkt door aanwezigheid van gecalcificeerde massa's in juxta-articulaire regio's (heup, elleboog, enkel en schouderblad) zonder betrokkenheid van gewricht. Histologisch vertonen laesies necrobiose (degeneratie van dermaal collageen), gevolgd door vorming van cyste en corpus alienum respons met verkalking. Er werden twee vormen beschreven: normocalciëmische tumorale calcinose en familiale tumorale calcinose."},"pt":{"name":"Calcinose tumoral"},"pl":{"name":"Wapnienie guzowate","definition":"Zaburzenie gospodarki wapniowo-fosforanowej, występujące zwłaszcza w młodszych grupach wiekowych, charakteryzujące się obecnością uwapnionych mas w okolicach stawów (biodrowego, łokciowego, skokowego oraz łopatkowych) bez zajęcia samych stawów. W badaniu histologicznym w zmianach chorobowych dochodzi do martwicy kolagenu, a następnie tworzą się torbiele i reakcja na obecność ciała obcego ze zwapnieniem. Opisano dwie postacie: normokalcemiczne wapnienie guzowate oraz rodzinne wapnienie guzowate."},"cs":{"name":"Familiární nádorová kalcinóza"},"uk":{"name":"Сімейний пухлинний кальциноз","definition":"A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. Two forms have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis."},"zh":{"name":"家族性瘤样钙化症"},"tr":{"name":"Ailesel tümöral kalsinoz"}},"xrefs":[{"source":"OMIM","code":"211900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610455","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018891","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263628","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10877","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059364","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":498445,"name":"Genetic inflammatory or rheumatoid-like osteoarthropathy","classifications":[147,156,199]},{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":183634,"name":"Rare genetic parathyroid disease and phosphocalcic metabolism disorder","classifications":[156]},{"orpha":68415,"name":"Rare parathyroid disease and phosphocalcic metabolism anomaly","classifications":[193]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]},{"orpha":182130,"name":"Tumor of endocrine glands","classifications":[202]}],"children":[{"orpha":306661,"name":"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome","type":"Clinical subtype"},{"orpha":306658,"name":"Familial normophosphatemic tumoral calcinosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FGF23","name":"fibroblast growth factor 23","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15590700[PMID]_22142751[PMID]_19188744[PMID]","hgnc":"3680","ensembl":"ENSG00000118972","omim":"605380","loci":["12p13.32"],"via":{"orpha":306661,"name":"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"}},{"symbol":"GALNT3","name":"polypeptide N-acetylgalactosaminyltransferase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15133511[PMID]_21347749[PMID]","hgnc":"4125","ensembl":"ENSG00000115339","omim":"601756","loci":["2q24.3"],"via":{"orpha":306661,"name":"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"}},{"symbol":"KL","name":"klotho","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17710231[PMID]_22142751[PMID]","hgnc":"6344","ensembl":"ENSG00000133116","omim":"604824","loci":["13q13.1"],"via":{"orpha":306661,"name":"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"}},{"symbol":"SAMD9","name":"sterile alpha motif domain containing 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16960814[PMID]_18094730[PMID]","hgnc":"1348","ensembl":"ENSG00000205413","omim":"610456","loci":["7q21.2"],"via":{"orpha":306658,"name":"Familial normophosphatemic tumoral calcinosis"}}],"inheritance":["Autosomal recessive"],"onset":["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":"7171486[PMID]_8139834[PMID]","terms":[{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100249","label":"Calcification of muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007470","label":"Periarticular subcutaneous nodules","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000168","label":"Abnormality of the gingiva","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}