{"orpha":93602,"name":"Xanthinuria type II","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["XDH and AOX dual deficiency","Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency"],"definition":"Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93602/","orphanet_url":"https://www.orpha.net/en/disease/detail/93602","names":{"fr":{"name":"Xanthinurie type II","synonyms":["Déficit combiné en XDH et AOX","Déficit combiné en xanthine déshydrogenase et xanthine aldéhyde oxydase"],"definition":"La xanthinurie type II, une forme de la xanthinurie héréditaire , est un trouble rare du métabolisme de la purine , autosomique récessif. Elle est caractérisée par un déficit en xanthine déshydrogénase et en aldéhyde oxydase, conduisant à une urolithiase à cristaux de xanthine et à l'insuffisance rénale chez certains patients. Les manifestations les moins fréquentes incluent une arthropathie, une myopathie et un ulcère duodénal. Certains patients sont asymptomatiques."},"de":{"name":"Xanthinurie Typ II","synonyms":["XDH- und AOX-Mangel, kombinierter","Xanthin-Dehydrogenase- und Aldehydoxydase-Mangel, kombinierter","Xanthin-Dehydrogenase- und Xanthinoxidase-Mangel"],"definition":"Der Typ 2 der Xanthinurie, eine Form der klassischen Xanthinurie (s. dort), ist eine seltene, autosomal-rezessiv vererbte Störung des Purin-Stoffwechsels und gekennzeichnet durch einen Mangel sowohl der Xanthin-Dehydrogenase als auch der Aldehyd-Oxidase. Folgen sind die Bildung von Xanthinsteinen im Urin und mögliche Niereninsuffizienz. Seltenere Symptome sind Arthropathie, Myopathie und Ulcus duodeni. Einige Patienten bleiben frei von Symptomen."},"es":{"name":"Xantinuria tipo II","synonyms":["Deficiencia dual de xantina deshidrogenasa y xantina aldehido oxidasa"],"definition":"La xantinuria tipo II, un tipo de xantinuria clásica (consulte este término), es un trastorno autosómico recesivo poco frecuente del metabolismo de la purina que se caracteriza por el déficit de xantina deshidrogenasa y aldehído oxidasa que da lugar, en algunos pacientes, a insuficiencia renal. Otras manifestaciones menos comunes incluyen artropatía, miopatía y úlcera duodenal, mientras algunos pacientes permanecen asintomáticos."},"it":{"name":"Xantinuria, tipo II","synonyms":["Deficit doppio di xantina deidrogenasi e xantina aldeide ossidasi","Doppio deficit di XDH e AOX"],"definition":"La xantinuria tipo II, una forma della xantinuria classica (si veda questo termine), è un difetto raro del metabolismo delle purine, a trasmissione autosomica recessiva, caratterizzato dal deficit combinato di xantina deidrogenasi e aldeide ossidasi, che provocano urolitiasi da xantina e, in alcuni pazienti, insufficienza renale. Sintomi meno comuni sono l'artropatia, la miopatia e l'ulcera duodenale, mentre alcuni pazienti sono asintomatici."},"nl":{"name":"Xanthinurie type II","synonyms":["XDH en AOX dual-deficiëntie","Xanthinedehydrogenase en xanthine-aldehyde-oxidasedualdeficiëntie"],"definition":"Een type van klassieke xanthinurie en een zeldzame autosomaal recessieve stoornis van purinemetabolisme, gekenmerkt door deficiëntie van zowel xanthine-dehydrogenase als aldehyde-oxidase, wat leidt tot xanthine-urolithiase, en bij sommige patiënten tot nierfalen. Minder gangbare manifestaties zijn onder meer artropathie, myopathie, en ulcus van duodenum, terwijl sommige patiënten asymptomatisch blijven."},"pt":{"name":"Xantinúria tipo II"},"pl":{"name":"Ksanturia typu II","synonyms":["Podwójny Niedobór dehydrogenazy ksantynowej i oksydazy aldehydowej ksantyny","Podwójny Niedobór XDH i AOX"]},"cs":{"name":"Xanthinurie, typ II","synonyms":["XDH a AOX duální deficit","Deficit xanthindehydrogenázy a xanthin-aldehydoxidázy"]},"uk":{"name":"Ксантинурія, тип II","synonyms":["Подвійний дефіцит ксантиндегідрогенази та ксантин альдегідоксидази","Подвійний дефіцит XDH та AOX"],"definition":"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic."},"zh":{"name":"黄嘌呤尿症II型","synonyms":["黄嘌呤脱氢酶和黄嘌呤醛氧化酶双重缺乏症"],"definition":"黄嘌呤尿症II型是一种典型的黄嘌呤尿症（见该词条），是一种罕见的常染色体隐性遗传嘌呤代谢紊乱（见该词条），其特征是黄嘌呤脱氢酶和醛氧化酶同时缺乏，导致尿黄嘌呤尿路结石的形成，并在某些患者中导致肾功能衰竭。其他较少见的表现包括关节病、肌病和十二指肠溃疡，而也有些病人没有症状。"},"tr":{"name":"Ksantinüri tip II","synonyms":["XDH ve AOX ikili eksikliği","Ksantin dehidrojenaz ve ksantin aldehit oksidaz ikili eksikliği"]}},"xrefs":[{"source":"OMIM","code":"603592","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1675893580"},{"source":"MONDO","code":"0011346","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566358","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863688","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5620","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":3467,"name":"Hereditary xanthinuria","classifications":[150,156,188]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}