{"orpha":112,"name":"Bartter syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Renal tubular normotensive hypokalemic alkalosis with hypercalciuria","Salt-losing tubular disorder, Henle's loop type","Salt-wasting tubulopathy, Henle's loop type"],"definition":"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-112/","orphanet_url":"https://www.orpha.net/en/disease/detail/112","names":{"fr":{"name":"Syndrome de Bartter","synonyms":["Alcalose tubulaire rénale normotensive hypokaliémique avec hypercalciurie","Tubulopathie avec fuite sodée type anse de Henle","Tubulopathie avec perte de sel type anse de Henle"],"definition":"Groupe de maladies tubulaires rénales rares caractérisées par un défaut de réabsorption du sel dans la branche ascendante épaisse de l'anse de Henle et, sur le plan clinique, par l'association d'une alcalose hypokaliémique, d'une hypercalciurie/néphrocalcinose, de taux plasmatiques élevés de rénine et d'aldostérone, d'une faible pression artérielle et d'une résistance vasculaire à l'angiotensine II."},"de":{"name":"Bartter-Syndrom","synonyms":["Renaler Salzverlust - normotensiver Hyperreninämie - Hyperaldosteronismus - hypokaliämische Alkalose","Salzverlust-Tubulopathie, Typ Henle-Schleife"],"definition":"Das Bartter-Syndrom (BS) ist gekennzeichnet durch eine hypokaliämische Alkalose mit erhöhten Plasmaspiegeln von Renin und Aldosteron, niedrigem Blutdruck und Angiotensin II-Resistenz der Gefäße."},"es":{"name":"Síndrome de Bartter","synonyms":["Alcalosis tubular renal normotensa hipocaliémica con hipercalciuria","Trastorno tubular de pérdida de sal tipo asa de Henle","Tubulopatía perdedora de sal tipo asa de Henle"],"definition":"El síndrome de Bartter es un grupo de enfermedades tubulares renales poco frecuentes que se caracteriza por una alteración de la reabsorción salina en el segmento ascendente grueso del asa de Henle y, clínicamente, por asociación de alcalosis hipopotasémica, hipercalciuria / nefrocalcinosis, niveles elevados de renina y aldosterona plasmáticas, presión arterial baja y resistencia vascular a la angiotensina II."},"it":{"name":"Sindrome di Bartter","synonyms":["Alcalosi ipokaliemica tubulare renale normotensiva con ipercalciuria","Malattia tubulare con perdita di sali, tipo ansa di Henle","Tubulopatia con perdita di sali, tipo ansa di Henle"],"definition":"La sindrome di Bartter è caratterizzata dall'associazione tra alcalosi ipokaliemica, livelli elevati di renina plasmatica e aldosterone, ipotensione arteriosa e resistenza vascolare all'angiotensina II."},"nl":{"name":"Syndroom van Bartter","synonyms":["Renale tubulaire normotensieve hypokaliëmische alkalose met hypercalciurie","Zoutafvoerende tubulopathie, lus van Henle-type","Zoutverliezende tubulaire stoornis, lus van Henle-type"],"definition":"Barttersyndroom vertegenwoordigt een groep zeldzame renale tubulaire ziekten die gekarakteriseerd worden door een verstoorde reabsorptie van zout in het dikke stijgende been van de lus van Henle en die klinisch gekenmerkt worden door de associatie van hypokaliëmische alkalose, hypercalciurie/nefrocalcinose, verhoogde gehaltes van renine en aldosteron in het plasma, lage bloeddruk en vasculaire resistentie tegen angiotensine II."},"pt":{"name":"Síndrome Bartter","synonyms":["Alcalose hipocaliémica normotensa tubular renal com hipercalciúria"],"definition":"A síndrome Bartter é um grupo de doenças tubulares renais raras caracterizadas pela reabsorção deficiente de sal no ramo ascendente espesso da ansa de Henle e, clinicamente, pela associação de alcalose hipocalémica, hipercalciúria/nefrocalcinose, níveis elevados de renina e aldosterona plasmáticas, pressão arterial baixa e resistência vascular à angiotensina II."},"pl":{"name":"Zespół Barttera","synonyms":["Kanalikowa zasadowica hipokaliemiczna normotensyjna z hiperkalciurią","Tubulopatia z utratą soli, typu pętli Henlego"]},"cs":{"name":"Bartterův syndrom","synonyms":["Renální tubulární normotenzní hypokalemická alkalóza s hyperkalciurií","Sůl ztrácející tubulární nemoc, typ Henleova klička","Sůl ztrácející tubulopatie, typ Henleova klička"]},"uk":{"name":"Синдром Барттера","synonyms":["Нирковий канальцевий нормотензивний гіпокаліємічний алкалоз з гіперкальціурією","Канальцева хвороба з втратою солі, тип петлі Генле","Тубулопатія з втратою солей, тип петлі Генле"],"definition":"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II."},"zh":{"name":"巴特综合征","synonyms":["肾小管常压低钾性碱中毒伴高钙尿"]},"tr":{"name":"Bartter sendromu","synonyms":["Tuz-tüketen tübülopati, Henle kulpu tipi","Tuz-kaybeden tübüler bozukluk, Henle kulpu tipi","Hiperkalsiüri ile seyreden renal tübüler normotansif hipokalemik alkaloz"]}},"xrefs":[{"source":"OMIM","code":"241200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300971","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601198","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601678","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602522","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607364","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"GB90.43","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"777233947"},{"source":"MONDO","code":"0015231","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001477","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0004775","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5893","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10050839","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93604,"name":"OBSOLETE: Antenatal Bartter syndrome","status":"inactive"},{"type":"Referred to","orpha":98119,"name":"OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly","status":"inactive"}],"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]}],"children":[{"orpha":620217,"name":"Bartter syndrome type 1","type":"Clinical subtype"},{"orpha":620220,"name":"Bartter syndrome type 2","type":"Clinical subtype"},{"orpha":93605,"name":"Bartter syndrome type 3","type":"Clinical subtype"},{"orpha":89938,"name":"Bartter syndrome type 4","type":"Clinical subtype"},{"orpha":570371,"name":"Bartter syndrome type 5","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CLCNKA","name":"chloride voltage-gated channel Ka","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18310267[PMID]_18776122[PMID]_12920401[PMID]","hgnc":"2026","ensembl":"ENSG00000186510","omim":"602024","loci":["1p36.13"],"via":{"orpha":89938,"name":"Bartter syndrome type 4"}},{"symbol":"CLCNKB","name":"chloride voltage-gated channel Kb","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18310267[PMID]_18776122[PMID]_12920401[PMID]","hgnc":"2027","ensembl":"ENSG00000184908","omim":"602023","loci":["1p36.13"],"via":{"orpha":89938,"name":"Bartter syndrome type 4"}},{"symbol":"BSND","name":"barttin CLCNK type accessory subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23110775[PMID]","hgnc":"16512","ensembl":"ENSG00000162399","omim":"606412","loci":["1p32.3"],"via":{"orpha":89938,"name":"Bartter syndrome type 4"}},{"symbol":"CLCNKB","name":"chloride voltage-gated channel Kb","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24058621[PMID]_17622951[PMID]","hgnc":"2027","ensembl":"ENSG00000184908","omim":"602023","loci":["1p36.13"],"via":{"orpha":93605,"name":"Bartter syndrome type 3"}},{"symbol":"KCNJ1","name":"potassium inwardly rectifying channel subfamily J member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26963954[PMID]","hgnc":"6255","ensembl":"ENSG00000151704","omim":"600359","loci":["11q24.3"],"via":{"orpha":620220,"name":"Bartter syndrome type 2"}},{"symbol":"MAGED2","name":"MAGE family member D2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27120771[PMID]","hgnc":"16353","ensembl":"ENSG00000102316","omim":"300470","loci":["Xp11.21"],"via":{"orpha":570371,"name":"Bartter syndrome type 5"}},{"symbol":"SLC12A1","name":"solute carrier family 12 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28095294[PMID]","hgnc":"10910","ensembl":null,"omim":null,"loci":["15q21.1"],"via":{"orpha":620217,"name":"Bartter syndrome type 1"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Sweden","status":"Validated","source":"3421146[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Kuwait","status":"Validated","source":"10365582[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}