{"orpha":2238,"name":"Familial isolated hypoparathyroidism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2238/","orphanet_url":"https://www.orpha.net/en/disease/detail/2238","names":{"fr":{"name":"Hypoparathyroïdie isolée familiale","definition":"Groupe hétérogène de troubles métaboliques rares caractérisés par des troubles du métabolisme calcique entraînant une hypocalcémie due à des taux sériques insuffisants de parathormone bioactive (PTH), en l'absence d'autres troubles endocriniens et de développement."},"de":{"name":"Hypoparathyreoidismus, familiärer isolierter","definition":"Eine seltene heterogene Gruppe von Stoffwechselstörungen, die durch einen anormalen Kalziumstoffwechsel gekennzeichnet sind und eine Hypokalzämie aufgrund unzureichender Serumspiegel des bioaktiven Parathormons (PTH) verursachen, ohne dass andere endokrine Störungen oder Entwicklungsstörungen vorliegen."},"es":{"name":"Hipoparatiroidismo aislado familiar","definition":"Es un grupo heterogéneo de trastornos metabólicos poco frecuente caracterizado por una alteración del metabolismo del calcio que causa hipocalcemia debido a una disminución de los niveles séricos de paratohormona bioactiva (PTH), sin asociar otros trastornos endocrinos o defectos del desarrollo."},"it":{"name":"Ipoparatiroidismo familiare isolato"},"nl":{"name":"Familiale geïsoleerde hypoparathyreoïdie","definition":"Een zeldzame heterogene groep van metabole aandoeningen, gekenmerkt door abnormaal metabolisme van calcium dat leidt tot hypocalciëmie door ontoereikende gehaltes van bioactief parathyroïdhormoon (PTH) in serum, zonder andere endocriene aandoeningen of ontwikkelingsdefecten."},"pt":{"name":"Hipoparatiroidismo familiar isolado","definition":"Grupo raro e heterogéneo de doenças metabólicas caracterizadas por metabolismo anormal do cálcio, causando hipocalcemia devido a níveis séricos insuficientes de hormona paratiroideia (PTH) bioativa, sem outras alterações endocrinológicas ou anomalias de desenvolvimento."},"pl":{"name":"Rodzinna izolowana niedoczynność przytarczyc"},"cs":{"name":"Familiární izolovaná hypoparatyreóza"},"uk":{"name":"Сімейний ізольований гіпопаратиреоз","definition":"A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects."},"zh":{"name":"家族性孤立性甲状旁腺功能减退"},"tr":{"name":"Ailesel izole hipoparatiroidi"}},"xrefs":[{"source":"OMIM","code":"146200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"307700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601198","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615361","qualifier":"BTNT","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":"1079633828"},{"source":"MONDO","code":"0016390","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537156","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832648","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2910","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090580","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":208593,"name":"Genetic hypoparathyroidism","classifications":[156]},{"orpha":181405,"name":"Rare hypoparathyroidism","classifications":[193]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[{"orpha":428,"name":"Autosomal dominant hypocalcemia","type":"Clinical subtype"},{"orpha":2239,"name":"Familial isolated hypoparathyroidism due to agenesis of parathyroid gland","type":"Clinical subtype"},{"orpha":189466,"name":"Familial isolated hypoparathyroidism due to impaired PTH secretion","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CASR","name":"calcium sensing receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"9920108[PMID]_12733714[PMID]_22789683[PMID]","hgnc":"1514","ensembl":"ENSG00000036828","omim":"601199","loci":["3q13.33-q21.1"],"via":{"orpha":428,"name":"Autosomal dominant hypocalcemia"}},{"symbol":"GNA11","name":"G protein subunit alpha 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23802516[PMID]","hgnc":"4379","ensembl":"ENSG00000088256","omim":"139313","loci":["19p13.3"],"via":{"orpha":428,"name":"Autosomal dominant hypocalcemia"}},{"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"],"via":{"orpha":2239,"name":"Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"}},{"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"],"via":{"orpha":189466,"name":"Familial isolated hypoparathyroidism due to impaired PTH secretion"}},{"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"],"via":{"orpha":189466,"name":"Familial isolated hypoparathyroidism due to impaired PTH secretion"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-16","source":"23155703[PMID]_27980765[PMID]_35165722[PMID]_24133354[PMID]","terms":[{"hpo":"HP:0100530","label":"Abnormality of calcium-phosphate metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003472","label":"Hypocalcemic tetany","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007352","label":"Cerebellar calcifications","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031627","label":"Globus pallidus calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025425","label":"Laryngospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}