{"orpha":306661,"name":"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hypercalcemic tumoral calcinosis"],"definition":"A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306661/","orphanet_url":"https://www.orpha.net/en/disease/detail/306661","names":{"fr":{"name":"Syndrome de calcinose tumorale hyperphosphatémique familiale/Hyperostose hyperphosphatémique","synonyms":["Calcinose tumorale hypercalcémique"],"definition":"Maladie autosomique récessive caractérisée par l'occurrence de masses calcifiées cutanées et sous-cutanées, généralement adjacentes des grosses articulations telles que la hanche, les épaules et les coudes. Le syndrome peut se manifester par une hyperphosphatémie ou une normophosphatémie, en fonction du type de mutation génétique impliquée."},"de":{"name":"Familiäre hyperphosphatämische tumorale Kalzinose/Hyperphosphatämische Hyperostose-Syndrom","synonyms":["GALNT3-CDG","GALNT3-CDG-Syndrom","Tumoröse Kalzinose, hyperkalzämische"],"definition":"Eine seltene autosomal-rezessive Störung, die durch das Auftreten von kutanen und subkutanen verkalkten Gewebeverdichtungen gekennzeichnet ist, die sich in der Regel in der Nähe großer Gelenke wie Hüfte, Schulter und Ellbogen befinden. Sie kann in Verbindung mit Hyperphosphatämie oder Normophosphatämie auftreten, je nach Art der beteiligten Genmutation."},"es":{"name":"Síndrome familiar de calcinosis tumoral hiperfosfatémica/hiperostosis hiperfosfatémica","synonyms":["Calcinosis tumoral hipercalcémica"],"definition":"Es un trastorno poco frecuente autosómico recesivo que se caracteriza por el desarrollo de masas calcificadas cutáneas y subcutáneas, generalmente adyacentes a grandes articulaciones, como caderas, hombros y codos. Puede ocurrir en el contexto de hiperfosfatemia o normofosfatemia, según el tipo de mutación genética involucrada."},"it":{"name":"Sindrome familiare calcinosi tumorale iperfosfatemica-iperostosi iperfosfatemica","synonyms":["Calcinosi tumorale ipercalcemica"]},"nl":{"name":"Familiale hyperfosfatemische tumorale calcinose/Hyperfosfatemische hyperostose-syndroom","synonyms":["Hypercalciëmische tumorale calcinose"],"definition":"Een zeldzame autosomaal recessieve aandoening, gekenmerkt door optreden van cutane en subcutane gecalcificeerde massa's, meestal naast grote gewrichten zoals heup, schouder en elleboog. Het kan voorkomen in de context van hyperfosfatemie of normofosfatemie, afhankelijk van het type genmutatie dat betrokken is."},"pt":{"name":"Calcinose tumoral hiperclacémica"},"pl":{"name":"Rodzinna kalcynoza guzowata","synonyms":["GALNT3-CDG","Hiperkalcemiczna kalcynoza guzowata"]},"cs":{"name":"Syndrom familiární hyperfosfatemické tumorové kalcinózy/hyperfosfatemické hyperostózy","synonyms":["Hyperkalcemická tumorová kalcinóza"]},"uk":{"name":"Сімейний гіперфосфатемічний пухлинний кальциноз/синдром гіперфосфатемічного гіперостозу","synonyms":["Гіперкальціємічний пухлинний кальциноз"],"definition":"A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved."},"zh":{"name":"家族性瘤样钙化高磷酸盐血症/高磷酸盐血症性骨肥厚综合征","synonyms":["高钙血症性肿瘤性钙质沉着症"],"definition":"家族性肿瘤钙化（FTC）是一种罕见的常染色体隐性遗传疾病，其特征是皮肤和皮下钙化肿块，常邻近大关节，如髋关节、肩关节和肘关节。FTC可在高磷血症或血磷正常时发生，取决于基因突变类型。"},"tr":{"name":"Ailesel hiperfosfatemik tümöral kalsinoz / Hiperfosfatemik hiperostoz sendromu","synonyms":["Hiperkalsemik tümöral kalsinoz"]}},"xrefs":[{"source":"OMIM","code":"211900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617993","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617994","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0100251","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679978","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10879","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":371200,"name":"Congenital disorder of glycosylation with skin involvement","classifications":[156,187]},{"orpha":309458,"name":"Disorder of O-N-acetylgalactosaminylglycan synthesis","classifications":[150,156]},{"orpha":53715,"name":"Familial tumoral calcinosis","classifications":[147,156,187,193,199,202]}],"children":[],"genes":[{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}