{"orpha":199326,"name":"Isolated autosomal dominant hypomagnesemia, Glaudemans type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199326/","orphanet_url":"https://www.orpha.net/en/disease/detail/199326","names":{"fr":{"name":"Hypomagnésémie isolée autosomique dominante type Glaudemans","definition":"L'hypomagnésémie isolée autosomique dominante type Glaudemans est une forme d'hypomagnésémie primaire familiale (FPH) caractérisé par un taux sérique en magnésium (Mg) faible mais des valeurs urinaires normales. Les caractéristiques cliniques typiques sont des crampes musculaires récurrentes, des crises de tétanie, un tremblement et une faiblesse musculaire, affectant surtout les membres distaux. La maladie est potentiellement fatale."},"de":{"name":"Hypomagnesiämie, isolierte, autosomal-dominante, Typ Glaudemans"},"es":{"name":"Hipomagnesemia aislada autosómica dominante, tipo Glaudemans","definition":"La hipomagnesemia aislada autosómica dominante, tipo Glaudemans (IADHG) es un tipo de hipomagnesemia primaria familiar (FPH, consulte este término), que se caracteriza por valores bajos de magnesio (Mg) en suero acompañados de valores normales de Mg en orina. Las manifestaciones clínicas típicas son calambres musculares recurrentes, episodios de tetania, temblores, y debilidad muscular, especialmente en las extremidades distales. Esta enfermedad es potencialmente letal."},"it":{"name":"Ipomagnesemia isolata autosomica dominante, tipo Glaudemans","definition":"L'ipomagnesemia isolata autosomica dominante, tipo Glaudemans (IADHG), è una forma di ipomagnesemia primitiva familiare (FPH; si veda questo termine), caratterizzata da livelli bassi di magnesio (Mg) nel siero e livelli normali nelle urine. I segni clinici caratteristici sono i crampi muscolari ricorrenti, gli episodi di tetania, il tremore, la debolezza muscolare, in particolare nei segmenti distali degli arti. La malattia è potenzialmente letale."},"nl":{"name":"Geïsoleerde autosomaal dominante hypomagnesiëmie, Glaudemans-type","definition":"'Geïsoleerde autosomaal dominante hypomagnesiëmie, Glaudemans-type (IADHG) is een vorm van familiale primaire hypomagnesiëmie (FPH; zie deze term) die wordt gekarakteriseerd door lage gehaltes van magnesium (Mg) in het serum maar met normale Mg-waarden in de urine. De typische klinische kenmerken zijn terugkerende spierkrampen, episodes met tetanie, tremor, en spierzwakte, vooral in distale ledematen. De ziekte kan fataal zijn.'"},"pt":{"name":"Hipomagnesemia isolada autossómica dominante, tipo Glaudemans"},"pl":{"name":"Izolowana autosomalnie dominująca hipomagnezemia, typ Glaudemansa"},"cs":{"name":"Izolovaná autozomálně dominantní hypomagnesemie, Glaudemansův typ"},"uk":{"name":"Ізольована аутосомно-домінантна гіпомагніємія, тип Глаудеманса","definition":"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal."},"zh":{"name":"孤立性常染色体显性低镁血症Glaudemans型","definition":"Glaudemans型孤立性常染色体显性遗传性低镁血症（IADHG）是一种家族性原发性低镁血症（FPH，见该术语），其特征为血清镁（Mg）降低，但尿镁正常。典型的临床表现为反复出现肌痉挛、手足抽搐、震颤和肌无力，以四肢远端为主，可能会危及生命。"},"tr":{"name":"İzole otozomal dominant hipomagnezemi, Glaudemans tipi"}},"xrefs":[{"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":"1038958214"},{"source":"MONDO","code":"0016048","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305155","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":"KCNA1","name":"potassium voltage-gated channel subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19307729[PMID]","hgnc":"6218","ensembl":"ENSG00000111262","omim":"176260","loci":["12p13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"19307729[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}