{"orpha":99880,"name":"Hyperparathyroidism-jaw tumor syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HPT-JT"],"definition":"A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99880/","orphanet_url":"https://www.orpha.net/en/disease/detail/99880","names":{"fr":{"name":"Syndrome d'hyperparathyroïdie-tumeur mandibulaire","synonyms":["HPT-JT"],"definition":"Maladie génétique rare caractérisée par l'apparition synchrone ou métachronique d'une hyperparathyroïdie primaire et d'un fibrome ossifiant du maxillaire et/ou de la mandibule, associée à un risque accru de carcinome parathyroïdien. La présence de kystes ou de tumeurs rénales, de polypes utérins multiples et de tumeurs thyroïdiennes ont également été rapportées."},"de":{"name":"Hyperparathyreoidismus-Kiefertumor-Syndrom (HPT-JT)","definition":"Seltene genetische Erkrankung, die durch das synchrone oder metachrone Auftreten von primärem Hyperparathyreoidismus und ossifizierenden Fibromen des Ober- und/oder Unterkiefers gekennzeichnet ist und mit einem erhöhten Risiko für Nebenschilddrüsenkarzinome einhergeht. Es wurde auch über das Auftreten von Nierenzysten oder -tumoren, multiplen Uteruspolypen und Schilddrüsentumoren berichtet."},"es":{"name":"Hiperparatiroidismo-síndrome de tumor de mandíbula","definition":"Es una enfermedad de base genética poco frecuente caracterizada por la aparición sincrónica o metacrónica de hiperparatiroidismo primario y fibroma osificante del maxilar y/o mandíbula, asociado a un mayor riesgo de carcinoma de paratiroides. También se ha descrito el desarrollo de quistes o tumores renales, pólipos uterinos múltiples y tumores de tiroides."},"it":{"name":"Sindrome iperparatiroidismo-tumore della mandibola","synonyms":["HPT-JT"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da iperparatiroidismo primitivo associato a un fibroma ossificante della mascella e/o della mandibola, che possono insorgere contemporaneamente o in successione. I pazienti sono predisposti al carcinoma delle paratiroidi. Può associarsi alle cisti o ai tumori renali, ai polipi uterini multipli e ai tumori della tiroide."},"nl":{"name":"Hyperparathyreoïdie - kaaktumor-syndroom","synonyms":["HPT-JT"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door synchroon of metachroon voorkomen van primaire hyperparathyreoïdie en ossificerend fibroom van maxilla en/of mandibula, geassocieerd met verhoogd risico op carcinoom van bijschildklier. Cysten of tumoren van nier, multipele uteriene poliepen, en tumoren van schildklier werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome hiperparatiroidismo-tumor da mandíbula","synonyms":["HPT-JT"]},"pl":{"name":"Zespół nadczynność przytarczyc - guz szczęki","synonyms":["HPT-JT"]},"cs":{"name":"Syndrom zahrnující hyperparathyroidismus a nádor čelisti","synonyms":["HPT-JT"]},"uk":{"name":"Синдром гіперпаратиреозу-пухлини щелепи","synonyms":["HPT-JT"],"definition":"A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported."},"zh":{"name":"甲状旁腺功能亢进-颌面肿瘤综合征","synonyms":["HPT-JT"]},"tr":{"name":"Hiperparatiroidi-çene tümörü sendromu","synonyms":["HPT-JT"]}},"xrefs":[{"source":"OMIM","code":"145001","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E21.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A51.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1660894556"},{"source":"MONDO","code":"0007768","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7768","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1704981","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10829","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":2207,"name":"Familial primary hyperparathyroidism","classifications":[156,193,202]},{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]}],"children":[],"genes":[{"symbol":"CDC73","name":"cell division cycle 73","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"12434154[PMID]","hgnc":"16783","ensembl":"ENSG00000134371","omim":"607393","loci":["1q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"25511968[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25511968[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-05","source":"14585940[PMID]_NBK3789[OTHER]_26163537[PMID]_23293331[PMID]_14585940[PMID]_15606373[PMID]","terms":[{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002897","label":"Parathyroid adenoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011766","label":"Abnormality of the parathyroid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010614","label":"Fibroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012232","label":"Shortened QT interval","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000131","label":"Uterine leiomyoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200025","label":"Mandibular pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004398","label":"Peptic ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008696","label":"Renal hamartoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}