{"orpha":94088,"name":"Hereditary renal hypouricemia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Familial renal hypouricemia"],"definition":"A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94088/","orphanet_url":"https://www.orpha.net/en/disease/detail/94088","names":{"fr":{"name":"Hypo-uricémie rénale héréditaire","synonyms":["Hypo-uricémie rénale familiale"],"definition":"Néphropathie tubulaire génétique caractérisée par une perte urinaire d'urate qui entraîne généralement une hypo-uricémie asymptomatique et prédispose à l'urolithiase et à l'insuffisance rénale aiguë induite par l'exercice (IRAE)."},"de":{"name":"Hypourikämie, hereditäre renale","synonyms":["Familiäre renale Hypourikämie"],"definition":"Eine genetisch bedingte Störung der Nierentubuli, die durch einen Uratverlust im Urin gekennzeichnet ist, der typischerweise zu einer asymptomatischen Hypourikämie führt und zu Urolithiasis und akutem Nierenversagen durch körperliche Anstrengung (EIARF) prädisponiert."},"es":{"name":"Hipouricemia renal hereditaria","synonyms":["Hipouricemia renal familiar"],"definition":"Es un trastorno renal tubularde base genética, caracterizado por la pérdida de urato en la orina que, por lo general, resulta en la aparición de hipouricemia asintomática y en una mayor predisposición a urolitiasis y a insuficiencia renal aguda inducida por el ejercicio (IRAIE)."},"it":{"name":"Ipouricemia renale ereditaria","synonyms":["Ipouricemia renale familiare"],"definition":"L'ipouricemia (RHUC) renale ereditaria è una malattia genetica dei tubuli renali, caratterizzata dalla perdita di urati attraverso le urine, che di solito esita nell'ipouricemia asintomatica e predispone all'urolitiasi e all'insufficienza renale acuta indotta dall'esercizio (EIARF)."},"nl":{"name":"Hereditaire renale hypo-urikemie","synonyms":["Familiale renale hypo-urikemie"],"definition":"Een genetische renale tubulopathie, gekarakteriseerd door verlies van urinezuur via de urine dat doorgaans leidt tot asymptomatische hypo-urikemie en vatbaar maakt voor urolithiase en inspanningsgeïnduceerd acuut nierfalen (EIARF)."},"pt":{"name":"Hipouricemia renal hereditária","synonyms":["Hipouricemia renal familiar"]},"pl":{"name":"Dziedziczna hipourykemia nerkowa","synonyms":["Familial renal hypouricemia"]},"cs":{"name":"Dědičná renální hypourikémie","synonyms":["Familial renal hypouricemia"]},"uk":{"name":"Спадкова ниркова гіпоурикемія","synonyms":["Сімейна ниркова гіпоурикемія"],"definition":"A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF)."},"zh":{"name":"遗传性肾性低尿酸血症","definition":"一种遗传性肾小管疾病，以尿尿酸盐排泄过多为特征，通常会导致无症状的低尿酸血症，并容易发生尿石症和运动诱发的急性肾功能衰竭（EIARF）。"},"tr":{"name":"Kalıtsal renal hipürisemi"}},"xrefs":[{"source":"OMIM","code":"220150","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"242050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"307830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612076","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"479364233"},{"source":"MONDO","code":"0009071","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551590","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9496","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":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"SLC22A12","name":"solute carrier family 22 member 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21148271[PMID]_23386035[PMID]","hgnc":"17989","ensembl":"ENSG00000197891","omim":"607096","loci":["11q13.1"]},{"symbol":"SLC2A9","name":"solute carrier family 2 member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19926891[PMID]_21810765[PMID]","hgnc":"13446","ensembl":"ENSG00000109667","omim":"606142","loci":["4p16.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"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":"2021-03-03","source":"27116386[PMID]_30097038[PMID]_31602378[PMID]","terms":[{"hpo":"HP:0003149","label":"Hyperuricosuria","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003537","label":"Hypouricemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012211","label":"Abnormal renal physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008651","label":"Uric acid urolithiasis independent of gout","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003138","label":"Increased blood urea nitrogen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012595","label":"Mild proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}