{"orpha":99879,"name":"Familial isolated hyperparathyroidism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FIHPT"],"definition":"A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99879/","orphanet_url":"https://www.orpha.net/en/disease/detail/99879","names":{"fr":{"name":"Hyperparathyroïdie isolée familiale","definition":"Hyperparathyroïdie primitive familiale et héréditaire rare, caractérisée par une hyperparathyroïdie primitive due à une tumeur unique ou à de multiples tumeurs de la parathyroïde chez au moins deux parents au premier degré, en l'absence de signes d'autres troubles endocriniens, tumeurs endocrines et/ou manifestations endocriniennes."},"de":{"name":"Hyperparathyreoidismus, familiär isolierter (FIHPT)"},"es":{"name":"Hiperparatiroidismo aislado familiar","synonyms":["FIHPT"],"definition":"Es una forma de hiperparatiroidismo primario familiar de origen genético y poco frecuente, caracterizada por la presencia de hiperparatiroidismo primario causado por tumores paratiroideos, únicos o múltiples, en al menos dos familiares de primer grado, en ausencia de evidencia de otros trastornos endocrinos, tumores y/o manifestaciones sistémicas."},"it":{"name":"Iperparatiroidismo isolato familiare","definition":"È un iperparatiroidismo primitivo ereditario raro, caratterizzato da iperparatiroidismo primitivo causato da uno o più tumori paratiroidei in almeno due consanguinei di primo grado, in assenza di altre malattie endocrine, tumori e/o sintomi sistemici evidenti."},"nl":{"name":"Familiale geïsoleerde hyperparathyreoïdie","synonyms":["FIHPT"],"definition":"Een zeldzame, erfelijke, familiale primaire hyperparathyreoïdie die gekarakteriseerd wordt door primaire hyperparathyreoïdie als gevolg van een of meerdere bijschildkliertumoren in minstens twee eerstegraadsverwanten, in afwezigheid van bewijs voor andere endocriene stoornissen, tumoren en/of systemische manifestaties."},"pt":{"name":"Hiperparatiroidismo isolado familiar","synonyms":["FIHPT"]},"pl":{"name":"Rodzinna izolowana nadczynność przytarczyc","synonyms":["FIHPT"]},"cs":{"name":"Familiární izolovaný hyperparathyroidismus","synonyms":["FIHPT"]},"uk":{"name":"Сімейний ізольований гіперпаратиреоз","synonyms":["FIHPT"],"definition":"A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations."},"zh":{"name":"家族性孤立型甲状旁腺功能亢进","synonyms":["FIHPT"],"definition":"甲状旁腺功能亢进症一种罕见的遗传性家族性原发性甲状旁腺功能亢进症，其特征是至少有两个一级亲属的单个或多个甲状旁腺肿瘤导致的原发性甲状旁腺功能亢进症，但没有其他内分泌紊乱、肿瘤和/或全身表现的证据。"},"tr":{"name":"ailesel izole hiperparatiroidi","synonyms":["FIHPT"]}},"xrefs":[{"source":"OMIM","code":"145000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600166","qualifier":"BTNT","icd_relation":null,"validated":false},{"source":"OMIM","code":"610071","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617343","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618883","qualifier":"BTNT","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":"1799621215"},{"source":"MONDO","code":"0015027","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564166","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551961","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080773","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99877,"name":"OBSOLETE: Familial parathyroid adenoma","status":"inactive"},{"type":"Referred to","orpha":99878,"name":"OBSOLETE: Primary parathyroid hyperplasia","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":2207,"name":"Familial primary hyperparathyroidism","classifications":[156,193,202]}],"children":[],"genes":[{"symbol":"CDC73","name":"cell division cycle 73","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301744[PMID]_15531515[PMID]","hgnc":"16783","ensembl":"ENSG00000134371","omim":"607393","loci":["1q31.2"]},{"symbol":"GCM2","name":"GCM transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27745835[PMID]","hgnc":"4198","ensembl":"ENSG00000124827","omim":"603716","loci":["6p24.2"]},{"symbol":"MEN1","name":"menin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9792884[PMID]_10664521[PMID]_12699448[PMID]","hgnc":"7010","ensembl":"ENSG00000133895","omim":"613733","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"18084346[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18084346[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-02-10","source":"23652676[PMID]","terms":[{"hpo":"HP:0000934","label":"Chondrocalcinosis","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:0040160","label":"Generalized osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002897","label":"Parathyroid adenoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011458","label":"Abdominal symptom","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}