{"orpha":34528,"name":"Autosomal dominant primary hypomagnesemia with hypocalciuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HOMG2","Isolated autosomal dominant hypomagnesemia","Isolated renal magnesium wasting","Renal hypomagnesemia type 2"],"definition":"A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34528/","orphanet_url":"https://www.orpha.net/en/disease/detail/34528","names":{"fr":{"name":"Hypomagnésémie primaire autosomique dominante avec hypocalciurie","synonyms":["Hypomagnésémie isolée autosomique dominante","Hypomagnésémie rénale type 2","HOMG2"],"definition":"L'hypomagnésémie primaire autosomique dominante avec hypocalciurie (HOMG2) est une forme légère d'hypomagnésémie primaire familiale, caractérisée par une extrême faiblesse, une tétanie et des convulsions. Des troubles secondaires de l'excrétion du calcium sont observés."},"de":{"name":"Autosomal-dominante primäre Hypomagnesiämie mit Hypokalziurie","synonyms":["HOMG2","Hypomagnesiämie, isolierte, autosomal-dominante Form","Hypomagnesiämie, renale, Typ 2","Isolierter Magnesiumverlust der Nieren"],"definition":"Eine milde Form der familiären primären Hypomagnesiämie (FPH), die durch extreme Schwäche, Tetanie und Krämpfe gekennzeichnet ist. Es werden sekundäre Störungen der Kalziumausscheidung beobachtet."},"es":{"name":"Hipomagnesemia primaria autosómica dominante con hipocalciuria","synonyms":["HOMG2","Hipomagnesemia aislada autosómica dominante","Hipomagnesemia renal tipo 2","Pérdida renal de magnesio aislada"],"definition":"Es una forma leve de hipomagnesemia primaria familiar (FPH), que se caracteriza por debilidad muscular extrema, tetania y convulsiones. Se observan alteraciones secundarias en la excreción de calcio."},"it":{"name":"Ipomagnesemia primitiva autosomica dominante con ipocalciuria","synonyms":["HOMG2","Ipomagnesemia autosomica dominante isolata","Ipomagnesemia renale, tipo 2","Perdita renale di magnesio isolata"],"definition":"L'ipomagnesemia primitiva autosomica dominante con ipocalciuria (ADPHH) è una forma lieve di ipomagnesemia primitiva familiare (FPH; si veda questo termine), caratterizzata da estrema debolezza, tetania e convulsioni. Sono presenti difetti secondari dell'escrezione del calcio."},"nl":{"name":"Autosomaal dominante primaire hypomagnesiëmie met hypocalciurie","synonyms":["Geïsoleerd renaal magnesiumverlies","Geïsoleerde autosomaal dominante hypomagnesiëmie","HOMG2","Renale hypomagnesiëmie type 2"],"definition":"Een milde vorm van familiale primaire hypomagnesiëmie (FPH) gekarakteriseerd door extreme zwakte, tetanie en convulsies. Er worden secundaire verstoringen van de excretie van calcium waargenomen."},"pt":{"name":"Hipomagnesemia primária autossómica dominante com hipocalciúria","definition":"Forma ligeira de hipomagnesemia primária familiar (HPF), caracterizada por extrema fraqueza, tetania e convulsões. Observam-se distúrbios secundários na excreção de cálcio."},"pl":{"name":"Autosomalna dominująca pierwotna hipomagnezemia z hipokalcurią","synonyms":["Autosomalna dominująca hipomagnezemia izolowana","Hipomagnezemia nerkowa typu 2","HOMG2","Izolowana utrata magnezu w nerkach"]},"cs":{"name":"Autozomálně dominantní primární hypomagnesémie s hypokalciurií","synonyms":["HOMG2","Renální hypomagnesémie, typ 2","Izolovaná autozomálně dominantní hypomagnesémie","Izolované ztráty hořčíku ledvinami"]},"uk":{"name":"Аутосомно-домінантна первинна гіпомагніємія з гіпокальціурією","synonyms":["HOMG2","Ізольована аутосомно-домінантна гіпомагніємія","Ізольована ниркова втрата магнію","Ниркова гіпомагніємія 2 типу"],"definition":"A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed."},"zh":{"name":"常染色体显性遗传性原发性低镁血症伴低钙尿症","synonyms":["常染色体显性遗传低镁血症"]},"tr":{"name":"Hipokalsiüri ile seyreden otozomal dominant primer hipomagnezemi","synonyms":["HOMG2","Renal hipomagnezemi tip 2","İzole böbrek magnezyum kaybı","İzole otozomal dominant hipomagnezemi"]}},"xrefs":[{"source":"OMIM","code":"154020","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1243047547"},{"source":"MONDO","code":"0007937","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537152","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835171","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3350","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":309848,"name":"Disorder of magnesium transport","classifications":[150,156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"FXYD2","name":"FXYD domain containing ion transport regulator 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17980699[PMID]","hgnc":"4026","ensembl":"ENSG00000137731","omim":"601814","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"25765846[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25765846[PMID]"}],"phenotypes":null}