{"orpha":3467,"name":"Hereditary xanthinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Classic xanthinuria","Xanthic urolithiasis","Xanthine stone disease"],"definition":"A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3467/","orphanet_url":"https://www.orpha.net/en/disease/detail/3467","names":{"fr":{"name":"Xanthinurie héréditaire","synonyms":["Lithiase xanthique","Xanthinurie classique"],"definition":"Trouble rare du métabolisme des purines dû à un déficit héréditaire de l'enzyme xanthine déshydrogénase/oxydase qui se caractérise par une très faible (ou indétectable) concentration d'acide urique dans le sang et les urines, et une concentration très élevée de xanthine dans les urines, conduisant à une lithiase urinaire."},"de":{"name":"Xanthinurie, hereditäre","synonyms":["Xanthinurie, klassische","Xanthinurolithiasis"],"definition":"Die Hereditäre Xanthinurie, eine Störung des Purin-Stoffwechsels durch erblichen Mangel des Enzyms Xanthin-Dehydrogenase/-Oxidase ist gekennzeichnet durch sehr niedrige (oder nicht nachweisbare) Konzentrationen von Harnsäure im Blut und Urin und sehr hohe Urinkonzentrationen von Xanthin, die zu Urolithiasis führen."},"es":{"name":"Xantinuria hereditaria","synonyms":["Enfermedad de cálculos de xantina","Urolitiasis xántica","Xantinuria clásica"],"definition":"Es un trastorno del metabolismo de la purina causado por un déficit heriditario del enzima xantina deshidrogenasa/oxidasa, y se caracteriza por una concentración muy baja (o indetectable) de ácido úrico en sangre y orina y una concentración muy alta de xantina en orina, lo que provoca una urolitiasis."},"it":{"name":"Xantinuria ereditaria","synonyms":["Calcolosi xantinica","Urolitiasi xantinica","Xantinuria classica"],"definition":"La xantinuria ereditaria è un difetto del metabolismo delle purine da deficit ereditario dell'enzima xantina deidrogenasi/ossidasi, che si caratterizza per concentrazioni molto basse (o impercettibili) di acido urico nel sangue e nelle urine e concentrazioni molto elevate di xantina nelle urine, che provocano urolitiasi."},"nl":{"name":"Erfelijke xanthinurie","synonyms":["Klassieke xanthinurie","Xanthine-urolithiase","Xanthinesteen ziekte"],"definition":"Een zeldzame stoornis van het purinemetabolisme als gevolg van overgeërfde deficiëntie van het enzym xanthinedehydrogenase/oxidase, gekarakteriseerd door zeer lage (of ondetecteerbare) concentraties urinezuur in bloed en urine en een zeer hoge concentratie xanthine in urine, wat leidt tot urolithiasis."},"pt":{"name":"Xantinúria hereditária","synonyms":["Deficiência de xantina desidrogenase","Urolitíase xântica"],"definition":"Doença rara do metabolismo das purinas devido a uma deficiência hereditária da enzima xantina desidrogenase/oxidase e é caracterizada por concentrações muito baixas (ou indetetáveis) de ácido úrico no sangue e na urina e uma concentração muito elevada de xantina na urina, levando à urolitíase."},"pl":{"name":"Ksantynuria dziedziczna","synonyms":["Choroba kamieni ksantynowych","Kamica ksantynowa","Ksantynuria klasyczna"]},"cs":{"name":"Dědičná xanthinurie","synonyms":["Klasická xanthinurie","Xanthinová urolitiáza","Xanthinové ledvinné kameny"]},"uk":{"name":"Спадкова ксантинурія","synonyms":["Класична ксантинурія","Ксантинова сечокамяна хвороба","Ксантинова камяна хвороба"],"definition":"A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis."},"zh":{"name":"遗传性黄嘌呤尿症","synonyms":["黄嘌呤结石病"]},"tr":{"name":"Kalıtsal ksantinüri","synonyms":["Klasik ksantinüri","Ksantik ürolitiyazis","Ksantin taşı hastalığı"]}},"xrefs":[{"source":"OMIM","code":"278300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603592","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C55.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1565213608"},{"source":"MONDO","code":"0018106","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779508","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]}],"children":[{"orpha":93601,"name":"Xanthinuria type I","type":"Etiological subtype"},{"orpha":93602,"name":"Xanthinuria type II","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MOCOS","name":"molybdenum cofactor sulfurase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11302742[PMID]_17368066[PMID]","hgnc":"18234","ensembl":"ENSG00000075643","omim":"613274","loci":["18q12.2"],"via":{"orpha":93602,"name":"Xanthinuria type II"}},{"symbol":"XDH","name":"xanthine dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9153281[PMID]","hgnc":"12805","ensembl":"ENSG00000158125","omim":"607633","loci":["2p23.1"],"via":{"orpha":93601,"name":"Xanthinuria type I"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":9.05,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"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":"2025-10-03","source":"38614487[PMID]_25370766[PMID]_29723117[PMID]","terms":[{"hpo":"HP:0011935","label":"Decreased urinary urate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003537","label":"Hypouricemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002932","label":"Aldehyde oxidase deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020074","label":"Crystalluria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010933","label":"Hyperxanthinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011814","label":"Increased urinary hypoxanthine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003534","label":"Reduced xanthine dehydrogenase activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003643","label":"Sulfite oxidase deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000791","label":"Uric acid nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000804","label":"Xanthine nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010934","label":"Xanthinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003040","label":"Arthropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030157","label":"Flank pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001997","label":"Gout","frequency":"Very rare (<4-1%)","criteria":null}]}}