{"orpha":189466,"name":"Familial isolated hypoparathyroidism due to impaired PTH secretion","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-189466/","orphanet_url":"https://www.orpha.net/en/disease/detail/189466","names":{"fr":{"name":"Hypoparathyroïdie isolée familiale par défaut de sécrétion de la PTH","definition":"Maladie endocrinienne rare d'origine génétique caractérisée par une altération de la sécrétion de l'hormone parathyroïdienne (PTH) par les glandes parathyroïdes, sans que cela ne provoque d'autres troubles endocriniens ou du développement. Parmi les complications figurent une altération de la fonction rénale, un retard psychomoteur et de croissance, un retard d'éruption dentaire et des cataractes."},"de":{"name":"Hypoparathyreoidismus, isolierter familiärer, durch gestörte PTH-Sekretion","definition":"Eine seltene endokrine Erkrankung, die durch eine Störung der Sekretion von Parathormon (PTH) durch die Nebenschilddrüsen gekennzeichnet ist und keine anderen endokrinen oder Entwicklungsstörungen verursacht. Zu den Komplikationen gehören Niereninsuffizienz, psychomotorische Verzögerung und Wachstumsretardierung, verzögerter Zahndurchbruch und Katarakt."},"es":{"name":"Hipoparatiroidismo aislado familiar por deficiencia de secreción de PTH","definition":"Es una enfermedad endocrina de origen genético poco frecuente caracterizada por un patrón de secreción alterada de la hormona paratiroidea (PTH) por las glándulas paratiroides que no causa otras alteraciones endocrinas ni del desarrollo. Las complicaciones incluyen afectación de la función renal, retraso psicomotor y del crecimiento, retraso de la dentición y cataratas."},"it":{"name":"Ipoparatiroidismo isolato familiare da anomalia della secrezione di PTH"},"nl":{"name":"Familiale geïsoleerde hypoparathyreoïdie door verminderde PTH-secretie","definition":"Een zeldzame genetische endocriene aandoening, gekenmerkt door verstoorde secretie van parathyroïdhormoon (PTH) door de bijschildklieren die geen andere endocriene functiestoornissen of ontwikkelingsstoornissen veroorzaakt. Complicaties zijn onder meer verstoorde nierfunctie, psychomotorische achterstand en groeiachterstand, vertraagde tanderuptie, en cataract."},"pt":{"name":"Hipoparatiroidismo isolado familiar por secreção de PTH diminuída","definition":"Doença endocrinológica genética rara caracterizada por secreção deficiente de hormona paratiroideia (PTH) pelas glândulas paratiróides, sem causar outros distúrbios endocrinológicos ou do desenvolvimento. As complicações incluem diminuição da função renal, atraso do desenvolvimento psicomotor e de crescimento, atraso da dentição e cataratas."},"pl":{"name":"Rodzinna izolowana niedoczynność przytarczyc z powodu upośledzonego wydzielania PTH"},"cs":{"name":"Familiární izolovaná hypoparatyreóza způsobená porušenou sekrecí PTH"},"uk":{"name":"Сімейний ізольований гіпопаратиреоз внаслідок порушення секреції ПТГ","definition":"A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts."},"zh":{"name":"甲状旁腺激素分泌受损所致家族性孤立甲状旁腺机能减退症"},"tr":{"name":"Bozulmuş PTH sekresyonuna bağlı ailesel izole hipoparatiroidi"}},"xrefs":[{"source":"OMIM","code":"146200","qualifier":"NTBT","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":"1395624362"},{"source":"MONDO","code":"0016000","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680524","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":"AIRE","name":"autoimmune regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28323927[PMID]","hgnc":"360","ensembl":"ENSG00000160224","omim":"607358","loci":["21q22.3"]},{"symbol":"PTH","name":"parathyroid hormone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"2212001[PMID]_10523031[PMID]_22722080[PMID]","hgnc":"9606","ensembl":"ENSG00000152266","omim":"168450","loci":["11p15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}