{"orpha":358,"name":"Gitelman syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-358/","orphanet_url":"https://www.orpha.net/en/disease/detail/358","names":{"fr":{"name":"Syndrome de Gitelman","definition":"Syndrome rare caractérisé par une alcalose métabolique hypokaliémique associée à une hypomagnésémie importante et une hypocalciurie."},"de":{"name":"Gitelman-Syndrom","definition":"Das Gitelman-Syndrom (GS), ist gekennzeichnet durch hypokaliämische metabolische Alkalose mit ausgeprägter Hypomagnesiämie und niedriger Kalziumausscheidung im Urin."},"es":{"name":"Síndrome de Gitelman","definition":"Es un síndrome poco frecuente caracterizado por alcalosis metabólica hipopotasémica acompañada de hipomagnesemia significativa y una excreción urinaria de calcio disminuida."},"it":{"name":"Sindrome di Gitelman","definition":"La sindrome di Gitelman (GS) è una malattia rara caratterizzata da alcalosi metabolica ipokaliemica, marcata ipomagnesemia e livelli bassi di calcio nelle urine."},"nl":{"name":"Syndroom van Gitelman","definition":"Een zeldzaam syndroom, gekarakteriseerd door hypokaliëmische metabole alkalose in combinatie met significante hypomagnesiëmie en weinig excretie van calcium in urine."},"pt":{"name":"Síndrome Gitelman","synonyms":["Hipomagnesémia-hipocaliémia renotubular primária com hipocalciúria"],"definition":"A síndrome de Gitelman (GS), também conhecida como hipocalemia-hipomagnesemia familiar, é caracterizada por alcalose metabólica hipocalémica em combinação com hipomagnesemia significante e baixa excreção urinária de cálcio."},"pl":{"name":"Zespół Gitelmana","synonyms":["Pierwotna kanalikowa hipomagnezemia hipokalcemiczna z hipokalcurią"]},"cs":{"name":"Gitelmanův syndrom","synonyms":["Primární renální tubulární hypomagnezémie-hypokalemie s hypokalciurií"]},"uk":{"name":"Синдром Гітельмана","definition":"A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion."},"zh":{"name":"Gitelman综合征","synonyms":["原发性肾小管性低钾性低镁血症伴低尿钙"]},"tr":{"name":"Gitelman sendromu","synonyms":["Hipokalsiüri ile seyreden primer renal tübüler hipokalemik hipomagnezemi"]}},"xrefs":[{"source":"OMIM","code":"263800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1177986055"},{"source":"MONDO","code":"0009904","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053579","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268450","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8547","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062906","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]}],"children":[],"genes":[{"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":"20931281[PMID]_19265611[PMID]_18667063[PMID]","hgnc":"2027","ensembl":"ENSG00000184908","omim":"602023","loci":["1p36.13"]},{"symbol":"SLC12A3","name":"solute carrier family 12 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22169961[PMID]_22990302[PMID]","hgnc":"10912","ensembl":"ENSG00000070915","omim":"600968","loci":["16q13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-17","source":"28003083[PMID]_30596175[PMID]_19508680[PMID]_30867665[PMID]","terms":[{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002632","label":"Low-to-normal blood pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002918","label":"Hypermagnesemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200114","label":"Metabolic alkalosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000017","label":"Nocturia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000128","label":"Renal potassium wasting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030083","label":"Salt craving","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012364","label":"Decreased urinary potassium","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001953","label":"Diabetic ketoacidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001997","label":"Gout","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100647","label":"Graves disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006789","label":"Mitochondrial encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002897","label":"Parathyroid adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011736","label":"Primary hyperaldosteronism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012248","label":"Prolonged PR interval","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025072","label":"Prominent U wave","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012250","label":"ST segment depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100324","label":"Scleroderma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001663","label":"Ventricular fibrillation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very rare (<4-1%)","criteria":null}]}}