{"orpha":36913,"name":"Autoimmune hypoparathyroidism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare parathyroid disease and phosphocalcic metabolism anomaly characterized by hypocalcemia, hyperphosphatemia, hypercalciuria, and low serum parathyroid hormone levels, in the presence of autoantibodies against parathyroid tissue. Clinical signs and symptoms are of variable severity and include paresthesia, seizures, laryngospasm, tetany, cardiac dysrhythmias, calcifications of the basal ganglia, and neuropsychological manifestations such as anxiety, depression, confusion, or hallucination. The condition may occur as an isolated disease or in association with other autoimmune diseases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36913/","orphanet_url":"https://www.orpha.net/en/disease/detail/36913","names":{"fr":{"name":"Hypoparathyroïdie auto-immune","definition":"Maladie parathyroïdienne rare et anomalie du métabolisme phosphocalcique caractérisée par une hypocalcémie, une hyperphosphatémie, une hypercalciurie et de faibles taux sériques d'hormone parathyroïdienne, en présence d'auto-anticorps dirigés contre le tissu parathyroïdien. Les signes et symptômes cliniques sont de sévérité variable et comprennent la paresthésie, les crises convulsives, le laryngospasme, la tétanie, les dysrythmies cardiaques, les calcifications des ganglions de la base et les manifestations neuropsychologiques telles que l'anxiété, la dépression, la confusion ou les hallucinations. La maladie peut se manifester de manière isolée ou en association avec d'autres maladies auto-immunes."},"de":{"name":"Hypoparathyreoidismus, autoimmuner Typ","definition":"Eine seltene Nebenschilddrüsenerkrankung und Anomalie des Phosphokalziumstoffwechsels, die durch Hypokalzämie, Hyperphosphatämie, Hyperkalziurie und niedrige Parathormonwerte im Serum bei Vorhandensein von Autoantikörpern gegen Nebenschilddrüsengewebe gekennzeichnet ist. Die klinischen Anzeichen und Symptome sind von unterschiedlichem Schweregrad und umfassen Parästhesien, Krampfanfälle, Laryngospasmen, Tetanie, Herzrhythmusstörungen, Verkalkungen der Basalganglien und neuropsychologische Manifestationen wie Angst, Depression, Verwirrung oder Halluzinationen. Die Erkrankung kann isoliert oder in Verbindung mit anderen Autoimmunkrankheiten auftreten."},"es":{"name":"Hipoparatiroidismo autoinmune","definition":"Es una enfermedad paratiroidea poco frecuente y una anomalía del metabolismo fosfocálcico caracterizada por hipocalcemia, hiperfosfatemia, hipercalciuria y niveles bajos de hormona paratiroidea sérica, en presencia de autoanticuerpos contra el tejido paratiroideo. Los signos y síntomas clínicos son de gravedad variable e incluyen parestesia, crisis, laringoespasmo, tetania, arritmias cardíacas, calcificación de los ganglios basales y manifestaciones neuropsicológicas como ansiedad, depresión, confusión o alucinaciones. La afección puede ocurrir como una enfermedad aislada o en asociación con otras enfermedades autoinmunes."},"it":{"name":"Ipoparatiroidismo autoimmune","definition":"Si tratta di una malattia rara delle paratiroidi e di un'anomalia del metabolismo fosfocalcico, caratterizzata da ipocalcemia, iperfosfatemia, ipercalciuria e riduzione dei livelli del paratormone nel siero, in presenza di autoanticorpi diretti contro il tessuto paratiroideo. I segni clinici sono variabili e comprendono le parestesie, le crisi epilettiche, il laringospasmo, la tetania, le aritmie cardiache, le calcificazioni dei gangli basali e i sintomi neuropsicologici (ansia, depressione, confusione o allucinazioni). La malattia può essere isolata o associarsi ad altre malattie autoimmuni."},"nl":{"name":"Auto-immune hypoparathyreoïdie","definition":"Een zeldzame aandoening van parathyroïd en anomalie van calcium- en fosfaatmetabolisme, gekarakteriseerd door hypocalciëmie, hyperfosfatemie, hypercalciurie, en lage gehaltes van parathyroïdhormoon in serum, in aanwezigheid van auto-antilichamen tegen weefsel van bijschildklier. Klinische verschijnselen en symptomen vertonen variabele gradaties van ernst, en zijn onder meer paresthesie, insulten, laryngospasme, tetanie, hartritmestoornissen, calcificatie van basale ganglia, en neuropsychologische manifestaties zoals angst, depressie, verwardheid of hallucinatie. De aandoening kan geïsoleerd voorkomen, of geassocieerd zijn met andere auto-immuunziekten."},"pt":{"name":"Hipoparatiroidismo autoimune"},"pl":{"name":"Autoimmunologiczna niedoczynność przytarczyc"},"cs":{"name":"Autoimunní hypoparathyreoidismus"},"uk":{"name":"Аутоімунний гіпопаратиреоз","definition":"A rare parathyroid disease and phosphocalcic metabolism anomaly characterized by hypocalcemia, hyperphosphatemia, hypercalciuria, and low serum parathyroid hormone levels, in the presence of autoantibodies against parathyroid tissue. Clinical signs and symptoms are of variable severity and include paresthesia, seizures, laryngospasm, tetany, cardiac dysrhythmias, calcifications of the basal ganglia, and neuropsychological manifestations such as anxiety, depression, confusion, or hallucination. The condition may occur as an isolated disease or in association with other autoimmune diseases."},"zh":{"name":"自身免疫性甲状旁腺机能减退症"},"tr":{"name":"Otoimmün hipoparatiroidizm"}},"xrefs":[{"source":"ICD-10","code":"E20.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A50.03","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1790437089"},{"source":"MONDO","code":"0018242","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271865","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090022","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181405,"name":"Rare hypoparathyroidism","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.013,"area":"Korea, Republic of","status":"Not yet validated","source":"32384131[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.023,"area":"Denmark","status":"Not yet validated","source":"25753591 [PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-14","source":"11834431[PMID]_26160136[PMID]_15356052[PMID]_24424178[PMID]_19959750[PMID]_18650515[PMID]_19328421[PMID]_15342816[PMID]_18535072[PMID]_4164473[PMID]_25905251[PMID]","terms":[{"hpo":"HP:0011771","label":"Autoimmune hypoparathyroidism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031990","label":"Chvostek sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031817","label":"Decreased circulating parathyroid hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033748","label":"Hypoesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000919","label":"Trousseau sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011458","label":"Abdominal symptom","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004724","label":"Calcium nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003472","label":"Hypocalcemic tetany","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025425","label":"Laryngospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003739","label":"Myoclonic spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Very rare (<4-1%)","criteria":null}]}}