{"orpha":93605,"name":"Bartter syndrome type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bartter syndrome type III"],"definition":"A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93605/","orphanet_url":"https://www.orpha.net/en/disease/detail/93605","names":{"fr":{"name":"Syndrome de Bartter type 3","synonyms":["Syndrome de Bartter type III"],"definition":"Forme du syndrome de Bartter caractérisée par un âge d'apparition plus tardif par rapport aux autres types de syndrome de Bartter, se manifestant typiquement après la première année de vie par un retard de croissance, une alcalose métabolique hypokaliémique et hypochlorémique, des concentrations élevées de rénine et d'aldostérone plasmatiques et une pression artérielle faible à normale."},"de":{"name":"Bartter-Syndrom Typ 3","synonyms":["Bartter-Syndrom Typ III"],"definition":"Ein Subtyp des Bartter-Syndroms, der sich später als anderen Typen des Bartter-Syndroms manifestiert. Typischerweise treten nach dem ersten Lebensjahr Gedeihstörungen, eine hypokaliämische und hypochlorämische metabolische Alkalose, erhöhte Plasma-Renin- und Aldosteronwerte und ein niedriger bis normaler Blutdruck auf."},"es":{"name":"Síndrome de Bartter tipo 3","synonyms":["Síndrome de Bartter tipo III"],"definition":"Es una forma del síndrome de Bartter caracterizada por una edad de inicio más tardía que en los otros tipos del síndrome, que típicamente se presenta después del primer año de vida con fallo de medro, alcalosis metabólica hipopotasémica e hipoclorémica, niveles elevados de renina y aldosterona en plasma y niveles bajos a normales de presión arterial."},"it":{"name":"Sindrome di Bartter classica","synonyms":["Sindrome di Bartter tipo III"],"definition":"Si tratta di una forma della sindrome di Bartter, caratterizzata da un'età d'esordio più tardiva rispetto agli altri tipi della malattia; in genere si manifesta dopo il primo anno di vita con ritardo della crescita, alcalosi metabolica ipokaliemica e ipocloremica, livelli elevati di renina e aldosterone nel plasma, e pressione arteriosa bassa o normale."},"nl":{"name":"Syndroom van Bartter type 3","synonyms":["Syndroom van Bartter type III"],"definition":"Een vorm van syndroom van Bartter, gekenmerkt door een latere aanvangsleeftijd dan de andere types van syndroom van Bartter, doorgaans na het eerste levensjaar met presentatie van niet-gedijen, hypokaliëmische en hypochloremische metabole alkalose, verhoogde gehaltes van renine en aldosteron in plasma, en lage tot normale bloeddruk."},"pt":{"name":"Síndrome Bartter tipo 3","synonyms":["Síndrome Bartter tipo III"],"definition":"Forma de síndrome Bartter caracterizada por uma idade de início mais tardia que os demais tipos de síndrome Bartter cuja apresentação clínica, habitualmente após o primeiro ano de vida, ocorre com atraso de crescimento, alcalose metabólica hipocaliémica e hipoclorémica, níveis elevados de renina e aldosterona plasmáticas e de pressão arterial que variam de baixos a normais."},"pl":{"name":"Klasyczny zespół Barttera","synonyms":["Zespół Barttera dorosłych","Zespół Barttera typu 3","Zespół Barttera typu III"]},"cs":{"name":"Klasický Bartterův syndrom","synonyms":["Bartterův syndrom, adultní forma","Bartterův syndrom, typ 3","Bartterův syndrom, typ III"]},"uk":{"name":"Синдром Барттера, тип 3","synonyms":["Синдром Барттера, тип III"],"definition":"A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure."},"zh":{"name":"经典型巴特综合征","synonyms":["巴特综合征Ⅲ型"],"definition":"典型巴特综合征是巴特综合征（见该词条）的一种类型，其特征是临床表现比产前/婴儿亚型温和，表现为发育不良、低钾性碱中毒、血浆肾素和醛固酮水平升高、低血压和血管紧张素Ⅱ抵抗。"},"tr":{"name":"Klasik Bartter sendromu","synonyms":["Erişkin Bartter sendromu","Bartter sendromu tip 3","Bartter sendromu tip III"]}},"xrefs":[{"source":"OMIM","code":"607364","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.43","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1086343593"},{"source":"MONDO","code":"0011822","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537653","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846343","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9659","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":112,"name":"Bartter syndrome","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":null}