{"orpha":73224,"name":"Kidney tubulopathy-dilated cardiomyopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by the combination of (i) a salt-losing renal tubulopathy with hypomagnesemia and hypokalemic metabolic alkalosis and (ii) dilated cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73224/","orphanet_url":"https://www.orpha.net/en/disease/detail/73224","names":{"fr":{"name":"Syndrome de tubulopathie rénale-cardiomyopathie dilatée","definition":"Le syndrome d'insuffisance rénale tubulaire-cardiomyopathie se caractérise par une alcalose métabolique hypokaliémique secondaire à une tubulopathie, une hypomagnésémie avec hypermagnésurie, une hypercalcicurie sévère et une cardiomyopathie dilatée."},"de":{"name":"Nierentubulopathie-dilatative Kardiomyopathie-Syndrom","synonyms":["Syndrom der Nierentubulopathie mit dilatativer Kardiomyopathie"],"definition":"Eine seltene Nierenerkrankung, die durch eine hypokaliämische metabolische Alkalose als Folge einer Tubulopathie, Hypomagnesiämie mit Hypermagnesurie, schwere Hyperkalziurie und dilatative Kardiomyopathie gekennzeichnet ist."},"es":{"name":"Síndrome de tubulopatía renal-miocardiopatía dilatada","definition":"Es una enfermedad renal poco frecuente caracterizada por alcalosis metabólica hipopotasémica secundaria a una tubulopatía, hipomagnesemia con hipermagnesuria, hipercalciuria grave y miocardiopatía dilatada."},"it":{"name":"Sindrome da tubulopatia renale e cardiomiopatia dilatativa"},"nl":{"name":"Tubulopathie van nier - gedilateerde cardiomyopathie-syndroom","definition":"Een zeldzame aandoening van nier, gekarakteriseerd door hypokaliëmische metabole alkalose secundair aan een tubulopathie, hypomagnesiëmie met hypermagnesurie, ernstige hypercalciurie, en gedilateerde cardiomyopathie."},"pt":{"name":"Síndrome de tubulopatia renal-miocardiopatia dilatada"},"pl":{"name":"Choroba kanalików nerkowych - kardiomiopatia","synonyms":["Zespół tubulopatia nerkowa-kardiomiopatia rozstrzeniowa"]},"cs":{"name":"Syndrom zahrnující tubulární renální nemoc a kardiomyopatii"},"uk":{"name":"Синдром ниркової тубулопатії - дилатаційної кардіоміопатії","definition":"A rare renal disease characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy."},"zh":{"name":"肾小管病-心肌病综合征"},"tr":{"name":"Tübüler böbrek hastalığı-kardiyomiyopati sendromu"}},"xrefs":[{"source":"OMIM","code":"620152","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB5Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019130","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19130","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304399","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"RRAGD","name":"Ras related GTP binding D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34607910[PMID]","hgnc":"19903","ensembl":"ENSG00000025039","omim":"608268","loci":["6q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"15769815[PMID]_41141537[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15769815[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-22","source":"15769815[PMID]","terms":[{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012608","label":"Hypermagnesiuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001960","label":"Hypokalemic metabolic alkalosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011038","label":"Abnormality of renal resorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006559","label":"Hepatic calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003527","label":"Hyperprostaglandinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003472","label":"Hypocalcemic tetany","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000859","label":"Increased circulating aldosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003739","label":"Myoclonic spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null}]}}