{"orpha":47159,"name":"Proximal renal tubular acidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Renal tubular acidosis type 2","pRTA"],"definition":"A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-47159/","orphanet_url":"https://www.orpha.net/en/disease/detail/47159","names":{"fr":{"name":"Acidose tubulaire rénale proximale","synonyms":["ATRp","Acidose tubulaire rénale type 2","pRTA"],"definition":"Néphropathie tubulaire rare caractérisée par l'incapacité du tubule proximal à réabsorber le bicarbonate du filtrat glomérulaire, entraînant une acidose métabolique hyperchlorémique."},"de":{"name":"Azidose, renale tubuläre, proximale","synonyms":["Azidose, renale tubuläre, Typ 2","pRTA"],"definition":"Eine seltene Erkrankung der Nierentubuli, bei der die Fähigkeit des proximalen Tubulus zur Rückresorption von Bikarbonat aus dem glomerulären Filtrat beeinträchtigt ist, was zu einer hyperchlorämischen metabolischen Azidose führt."},"es":{"name":"Acidosis tubular renal proximal","synonyms":["Acidosis tubular renal tipo 2","pRTA"],"definition":"Es una enfermedad tubular renal poco frecuente caracterizada por una capacidad disminuida del túbulo proximal para reabsorber bicarbonato del filtrado glomerular, lo que deriva en acidosis metabólica hiperclorémica."},"it":{"name":"Acidosi tubulare renale prossimale","synonyms":["Acidosi tubulare renale, tipo 2","pRTA"],"definition":"L'acidosi tubulare renale prossimale (pRTA) è una nefropatia caratterizzata da un ridotto assorbimento, da parte dei tubuli prossimali, del bicarbonato filtrato dai glomeruli, che esita in un'acidosi metabolica ipercloremica."},"nl":{"name":"Proximale renale tubulaire acidose","synonyms":["Renale tubulaire acidose type 2","pRTA"],"definition":"Een zeldzame aandoening van niertubulus, gekenmerkt door verstoorde reabsorptie van bicarbonaat door proximale tubulus uit glomerulair filtraat (voorurine), wat leidt tot hyperchloremische metabole acidose."},"pt":{"name":"Acidose tubular renal proximal","synonyms":["Acidose tubular renal proximal com alterações oculares","Acidose tubular renal tipo 2"],"definition":"Doença tubular renal rara caracterizada pela dificuldade do túbulo proximal em reabsorver bicarbonato do filtrado glomerular, levando à acidose metabólica hiperclorémica."},"pl":{"name":"Kwasica proksymalnych kanalików nerkowych","synonyms":["Kwasica kanalików nerkowych typu 2","pRTA"]},"cs":{"name":"Proximální renální tubulární acidóza","synonyms":["Renální tubulární acidóza, typ 2","pRTA"]},"uk":{"name":"Проксимальний нирковий канальцевий ацидоз","synonyms":["PRTA","Нирковий тубулярний ацидоз 2 типу"],"definition":"A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis."},"zh":{"name":"近端肾小管性酸中毒","synonyms":["肾小管性酸中毒2型"]},"tr":{"name":"Proksimal renal tübüler asidoz","synonyms":["pRTA","Renal tübüler asidoz tip 2"]}},"xrefs":[{"source":"OMIM","code":"179830","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"604278","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.44","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1207939938"},{"source":"MONDO","code":"0008369","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268435","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10037080","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":314822,"name":"Primary renal tubular acidosis","classifications":[156,188]}],"children":[{"orpha":314889,"name":"Autosomal dominant proximal renal tubular acidosis","type":"Clinical subtype"},{"orpha":93607,"name":"Autosomal recessive proximal renal tubular acidosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SLC4A4","name":"solute carrier family 4 member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11030","ensembl":"ENSG00000080493","omim":"603345","loci":["4q13.3"],"via":{"orpha":93607,"name":"Autosomal recessive proximal renal tubular acidosis"}}],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"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":"2021-01-19","source":"31300090[PMID]_23235953[PMID]_28092281[PMID]_30139461[PMID]","terms":[{"hpo":"HP:0004910","label":"Bicarbonate-wasting renal tubular acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004918","label":"Hyperchloremic metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003646","label":"Bicarbonaturia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000585","label":"Band keratopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006285","label":"Enamel hypomineralization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012573","label":"Global proximal tubulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012605","label":"Hypernatriuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003149","label":"Hyperuricosuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003126","label":"Low-molecular-weight proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001530","label":"Mild postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001682","label":"Subvalvular aortic stenosis","frequency":"Very rare (<4-1%)","criteria":null}]}}