{"orpha":18,"name":"Distal renal tubular acidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Classic RTA","Familial distal primary acidosis","Renal tubular acidosis type 1","dRTA"],"definition":"A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-18/","orphanet_url":"https://www.orpha.net/en/disease/detail/18","names":{"fr":{"name":"Acidose tubulaire rénale distale","synonyms":["ATR classique","ATRd","Acidose distale primitive familiale","Acidose tubulaire rénale type 1","dRTA"],"definition":"Néphropathie tubulaire rare, génétique ou acquise, caractérisée par une acidose métabolique hyperchlorémique. La forme primaire d'acidose tubulaire rénale distale (ATRd) est souvent associée à une hypokaliémie, tandis que les autres formes sont associées à une hypokaliémie, une hyperkaliémie ou une normokaliémie."},"de":{"name":"Azidose, renale tubuläre, distale","synonyms":["Azidose, renale tubuläre, Typ 1","Familiäre distale primäre Azidose","RTA, klassisch","dRTA"],"definition":"Eine seltene genetische oder erworbene Erkrankung der Nierentubuli, die durch eine hyperchlorämische metabolische Azidose gekennzeichnet ist. Die primäre distale renale tubuläre Azidose (dRTA) ist häufig mit Hypokaliämie verbunden, andere Formen mit Hypokaliämie, Hyperkaliämie oder Normokaliämie."},"es":{"name":"Acidosis tubular renal distal","synonyms":["ATR clásica","Acidosis tubular renal familiar","Acidosis tubular renal tipo 1","dRTA"],"definition":"Es una enfermedad tubular renal poco frecuente de origen genético o adquirida caracterizada por acidosis metabólica hiperclorémica. La acidosis tubular renal distal primaria (ATRd) se suele asociar a hipopotasemia, aunque existen otras formas con hipopotasemia, hiperpotasemia o normopotasemia."},"it":{"name":"Acidosi renale tubulare distale","synonyms":["Acidosi primtiva distale familiare","Acidosi tubulare renale, tipo 1","RTA classica","dRTA"],"definition":"L'acidosi tubulare renale distale (dRTA) è una malattia da anomala escrezione di acido da parte dei tubuli distali, caratterizzata da acidosi metabolica ipercloremica. La forma classica si associa spesso ad ipokaliemia, mentre le altre forme di dRTA acquisita possono associarsi a ipokaliemia, iperkaliemia o normokaliemia."},"nl":{"name":"Distale renale tubulaire acidose","synonyms":["Familiale distale primaire acidose","Klassieke RTA","Renale tubulaire acidose type 1","dRTA"],"definition":"Een zeldzame genetische of verworven aandoening van niertubulus, gekenmerkt door hyperchloremische metabole acidose. Primaire distale renale tubulaire acidose (dRTA) is vaak geassocieerd met hypokaliëmie, en andere vormen met hypokaliëmie, hyperkaliëmie of normokaliëmie."},"pt":{"name":"Acidose tubular renal distal","synonyms":["Acidose distal primária familiar","Acidose tubular renal tipo 1","RTA clássica","dRTA"],"definition":"Doença tubular renal genética ou adquirida rara caracterizada por acidose metabólica hiperclorémica. A acidose tubular renal distal primária (ATRd) está frequentemente associada à hipocalemia, as outras formas à hipocalemia, hipercalemia ou normocalemia."},"pl":{"name":"Kwasica nerkowych kanalików dystalnych","synonyms":["dRTA","Klasyczna RTA","Kwasica kanalików nerkowych typu 1","Rodzinna pierwotna kwasica kanalików dystalnych"]},"cs":{"name":"Distální renální tubulární acidóza","synonyms":["Klasická RTA","Familiární distální primární acidóza","Renální tubulární acidóza, typ I","dRTA"]},"uk":{"name":"Дистальний нирковий тубулярний ацидоз","synonyms":["Класичний RTA","dRTA","Сімейний дистальний первинний ацидоз","Нирковий тубулярний ацидоз типу 1"],"definition":"A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia."},"zh":{"name":"远端肾小管性酸中毒","synonyms":["家族性远端原发性酸中毒"]},"tr":{"name":"Distal renal tübüler asidoz","synonyms":["dRTA","Klasik RTA","Renal tübüler asidoz tip 1","Ailesel distal primer asidoz"]}},"xrefs":[{"source":"OMIM","code":"179800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"267300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602722","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611590","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":"1321454324"},{"source":"MONDO","code":"0015827","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1704380","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4667","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10045224","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]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[{"orpha":93608,"name":"Autosomal dominant distal renal tubular acidosis","type":"Clinical subtype"},{"orpha":402041,"name":"Autosomal recessive distal renal tubular acidosis","type":"Clinical subtype"},{"orpha":93610,"name":"Distal renal tubular acidosis with anemia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ATP6V0A4","name":"ATPase H+ transporting V0 subunit a4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23729491[PMID]","hgnc":"866","ensembl":"ENSG00000105929","omim":"605239","loci":["7q34"],"via":{"orpha":402041,"name":"Autosomal recessive distal renal tubular acidosis"}},{"symbol":"ATP6V1B1","name":"ATPase H+ transporting V1 subunit B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23729491[PMID]","hgnc":"853","ensembl":"ENSG00000116039","omim":"192132","loci":["2p13.3"],"via":{"orpha":402041,"name":"Autosomal recessive distal renal tubular acidosis"}},{"symbol":"FOXI1","name":"forkhead box I1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29242249[PMID]","hgnc":"3815","ensembl":"ENSG00000168269","omim":"601093","loci":["5q35.1"],"via":{"orpha":402041,"name":"Autosomal recessive distal renal tubular acidosis"}},{"symbol":"SLC4A1","name":"solute carrier family 4 member 1 (Diego blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11027","ensembl":"ENSG00000004939","omim":"109270","loci":["17q21.31"],"via":{"orpha":93608,"name":"Autosomal dominant distal renal tubular acidosis"}},{"symbol":"SLC4A1","name":"solute carrier family 4 member 1 (Diego blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11027","ensembl":"ENSG00000004939","omim":"109270","loci":["17q21.31"],"via":{"orpha":93610,"name":"Distal renal tubular acidosis with anemia"}},{"symbol":"WDR72","name":"WD repeat domain 72","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30028003[PMID]","hgnc":"26790","ensembl":"ENSG00000166415","omim":"613214","loci":["15q21.3"],"via":{"orpha":402041,"name":"Autosomal recessive distal 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_22872862[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-16","source":"30139458[PMID]_31600044[PMID]","terms":[{"hpo":"HP:0032944","label":"Alkaline urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001996","label":"Chronic metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032066","label":"Decreased serum bicarbonate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004918","label":"Hyperchloremic metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012405","label":"Hypocitraturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","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:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012608","label":"Hypermagnesiuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000128","label":"Renal potassium wasting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","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:0011387","label":"Enlarged vestibular aqueduct","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011964","label":"Intermittent painful muscle spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003126","label":"Low-molecular-weight proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000114","label":"Proximal tubulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Very rare (<4-1%)","criteria":null}]}}