{"orpha":2239,"name":"Familial isolated hypoparathyroidism due to agenesis of parathyroid gland","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic endocrine disease characterized by severe hypocalcemia, seizures, hyperphosphatemia, and impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands (not affecting other endocrine glands). Complications include psychomotor and growth delay, delayed dentition, and cataracts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2239/","orphanet_url":"https://www.orpha.net/en/disease/detail/2239","names":{"fr":{"name":"Hypoparathyroïdie isolée familiale due à l'agénésie de la glande parathyroïde","definition":"Maladie endocrinienne génétique rare caractérisée par une hypocalcémie sévère, des crises d'épilepsie, une hyperphosphatémie et une altération de la sécrétion de l'hormone parathyroïdienne (PTH) par les glandes parathyroïdes (n'affectant pas les autres glandes endocrines). Les complications comprennent retard psychomoteur et retard de croissance, retard d'éruption dentaire et cataracte."},"de":{"name":"Hypoparathyreoidismus, familiärer isolierter, bei Agenesie der Nebenschilddrüsen","definition":"Eine seltene genetisch bedingte endokrine Erkrankung, die durch schwere Hypokalzämie, Krampfanfälle, Hyperphosphatämie und eine gestörte Sekretion des Parathormons (PTH) durch die Nebenschilddrüsen gekennzeichnet ist (andere endokrine Drüsen sind nicht betroffen). Zu den Komplikationen gehören psychomotorische und Wachstumsverzögerungen, verzögertes Zahnen und Katarakte."},"es":{"name":"Hipoparatiroidismo aislado familiar por agenesia de la glándula paratiroidea","definition":"Es una enfermedad endocrina de origen genético poco frecuente caracterizada por hipocalcemia grave, crisis epilépticas, hiperfosfatemia y alteración de la secreción de la hormona paratiroidea (HPT) por las glándulas paratiroides (que no afecta a otras glándulas endocrinas). Las complicaciones incluyen retraso psicomotor y del crecimiento, retraso eruptivo de la dentición y cataratas."},"it":{"name":"Ipoparatiroidismo isolato familiare da agenesia delle ghiandole paratiroidee","definition":"Si tratta di un ipoparatiroidismo genetico raro, caratterizzato da ipocalcemia grave, crisi epilettiche, iperfosfatemia e livelli di ormone paratiroideo non rilevabili, in assenza di tessuto paratiroideo. Le complicanze comprendono il ritardo psicomotorio e della crescita, il ritardo della dentizione e la cataratta."},"nl":{"name":"Familiale geïsoleerde hypoparathyreoïdie door agenesie van bijschildklier","definition":"Een zeldzame genetische endocriene aandoening, gekenmerkt door ernstige hypocalciëmie, insulten, hyperfosfatemie, en verstoorde secretie van parathyroïdhormoon (PTH) door de bijschildklieren (zonder aantasting van andere endocriene klieren). Complicaties zijn onder meer psychomotorische achterstand en groeiachterstand, vertraagde tanderuptie, en cataract."},"pt":{"name":"Hipoparatiroidismo isolado familiar por agenesia da glândula paratiroide","definition":"Doença endocrinológica genética rara caracterizada por hipocalcemia grave, convulsões, hiperfosfatemia e secreção comprometida da hormona paratiroideia (PTH) pelas glândulas paratiróides (não afetando outras glândulas endócrinas). As complicações incluem atraso do desenvolvimento psicomotor e de crescimento, atraso da dentição e cataratas."},"pl":{"name":"Rodzinna izolowana niedoczynność przytarczyc spowodowana agnezją przytarczyc"},"cs":{"name":"Familiární izolovaná hypoparatyreóza způsobená agenezí příštítných tělísek"},"uk":{"name":"Сімейний ізольований гіпопаратиреоз внаслідок агенезії паращитовидної залози","definition":"A rare genetic endocrine disease characterized by severe hypocalcemia, seizures, hyperphosphatemia, and impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands (not affecting other endocrine glands). Complications include psychomotor and growth delay, delayed dentition, and cataracts."},"zh":{"name":"家族性孤立性甲状旁腺功能减退所致甲状旁腺发育不全"},"tr":{"name":"Paratiroid bezinin agenezisine bağlı ailesel izole hipoparatiroidi"}},"xrefs":[{"source":"OMIM","code":"146200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"307700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E20.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A50.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1282942432"},{"source":"MONDO","code":"0010618","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680706","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":2238,"name":"Familial isolated hypoparathyroidism","classifications":[156,189,193]}],"children":[],"genes":[{"symbol":"GCM2","name":"GCM transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11602629[PMID]","hgnc":"4198","ensembl":"ENSG00000124827","omim":"603716","loci":["6p24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"14431322[PMID]_8981958[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14431322[PMID]_8981958[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-19","source":"23155703[PMID]_15728199[PMID]_11602629[PMID]_25279501[PMID]_25137426[PMID]_18182452[PMID]_18182452[PMID]_16167084[PMID]_7196945[PMID]_1973175[PMID]_10910362[PMID]_18182452[PMID]_20463099[PMID]","terms":[{"hpo":"HP:0008198","label":"Congenital hypoparathyroidism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008211","label":"Parathyroid agenesis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Occasional (29-5%)","criteria":null}]}}