{"orpha":428,"name":"Autosomal dominant hypocalcemia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["AD hypocalcemia"],"definition":"A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with disproportionately low/normal levels of parathyroid hormone (PTH) and persistent normal or elevated renal calcium excretion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-428/","orphanet_url":"https://www.orpha.net/en/disease/detail/428","names":{"fr":{"name":"Hypocalcémie autosomique dominante","definition":"Trouble rare de l'homéostasie calcique caractérisé par une hypocalcémie de degré variable et des taux d'hormone parathyroïdienne (PTH) disproportionnellement faibles ou normaux, et la persistance d'une calciurie normale ou élevée."},"de":{"name":"Hypokalzämie, autosomal-dominante","synonyms":["AD Hypokalzämie"],"definition":"Eine seltene Störung des Calciumstoffwechsels, die durch unterschiedlich starke Hypokalzämie mit unverhältnismäßig niedrigen/normalen Parathormonspiegeln (PTH) und anhaltend normaler oder erhöhter renaler Calciumausscheidung gekennzeichnet ist."},"es":{"name":"Hipocalcemia autosómica dominante","synonyms":["Hipocalcemia AD"],"definition":"Es un trastorno poco frecuente de la homeostasis del calcio caracterizado por grados variables de hipocalcemia con niveles desproporcionadamente bajos/normales de hormona paratiroidea (PTH) y excreción renal de calcio persistentemente normal o elevada."},"it":{"name":"Ipocalcemia autosomica dominante","synonyms":["Ipocalcemia AD"],"definition":"L'ipocalcemia autosomica dominante (ipocalcemia AD) è un difetto nell'omeostasi del calcio caratterizzato da ipocalcemia di gravità variabile, associata a livelli abnormemente bassi di paratormone (PTH) e calciuria persistente normale o elevata."},"nl":{"name":"Autosomaal dominante hypocalciëmie","synonyms":["AD hypocalciëmie"],"definition":"Een zeldzame aandoening van calciumhomeostase, gekenmerkt door variabele gradaties van hypocalciëmie met disproportioneel lage/normale gehaltes van parathyroïdhormoon (PTH) en persisterende normale of verhoogde excretie van calcium via de nieren."},"pt":{"name":"Hipocalcemia autossómica dominante","definition":"Patologia rara da homeostasia do cálcio caracterizada por graus variáveis de hipocalcemia com níveis desproporcionalmente baixos/normais de hormona paratiroideia (PTH) e excreção renal de cálcio persistentemente normal ou elevada."},"pl":{"name":"Autosomalna dominująca hipokalcemia","synonyms":["AD hipokalcemia"]},"cs":{"name":"Autozomálně dominantní hypokalcémie","synonyms":["AD hypokalcémie"]},"uk":{"name":"Аутосомно-домінантна гіпокальціємія","synonyms":["Гіпокальціємія при артеріальній гіпертензії"],"definition":"A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with disproportionately low/normal levels of parathyroid hormone (PTH) and persistent normal or elevated renal calcium excretion."},"zh":{"name":"常染色体显性低钙血症","synonyms":["常染色体显性低钙血症"]},"tr":{"name":"Otozomal dominant hipokalsemi","synonyms":["AD hipokalsemi"]}},"xrefs":[{"source":"OMIM","code":"601198","qualifier":"E","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":"1594772438"},{"source":"MONDO","code":"0018543","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4048195","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2877","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":263417,"name":"Bartter syndrome with hypocalcemia","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":2238,"name":"Familial isolated hypoparathyroidism","classifications":[156,189,193]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.161,"area":"Denmark","status":"Validated","source":"25753591[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"United States","status":"Validated","source":"32386559[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040148","label":"Cortical myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002356","label":"Writer's cramp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012608","label":"Hypermagnesiuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Occasional (29-5%)","criteria":null}]}}