{"orpha":93601,"name":"Xanthinuria type I","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["XDH deficiency","XO deficiency","XOR deficiency","Xanthine dehydrogenase deficiency","Xanthine oxidase deficiency","Xanthine oxidoreductase deficiency"],"definition":"Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93601/","orphanet_url":"https://www.orpha.net/en/disease/detail/93601","names":{"fr":{"name":"Xanthinurie type I","synonyms":["Déficit en XDH","Déficit en XO","Déficit en XOR","Déficit en xanthine déshydrogénase","Déficit en xanthine oxydase","Déficit en xanthine oxydoréductase"],"definition":"La xanthinurie de type I, une forme de la xanthinurie héréditaire , est un trouble rare du métabolisme de lapurine , autosomique récessif. Elle est caractérisée par un déficit isolé en xanthine déshydrogénase, causant une hyperxanthinémie avec peu ou pas d'acide urique et une xanthinurie, conduisant à une urolithiase, une hématurie, des coliques néphrétiques et des infections du tractus urinaire. Certains patients sont asymptomatiques tandis que d'autres peuvent présenter une insuffisance rénale. Les manifestations moins fréquentes incluent une arthropathie, une myopathie et un ulcère duodénal."},"de":{"name":"Xanthinurie Typ I","synonyms":["Xanthin-Dehydrogenase (XDH)-Mangel","Xanthin-Oxidase (XO)-Mangel","Xanthin-Oxidoreduktase (XOR)-Mangel"],"definition":"Der Typ 1 der Xanthinurie, eine Form der klassischen Xanthinurie (s. dort), ist eine seltene, autosomal-rezessiv vererbte Störung der Purin-Stoffwechsels mit isoliertem Mangel der Xanthin-Dehydrogenase. Die Folge sind erhöhte Xanthin- und niedrige oder nicht messbare Harnsäure-Blutspiegel und Xanthinurie, die zu Urolithiasis mit Hämaturie, Nierenkoliken und Harnwegsinfekten führt. Einige Betroffene sind frei von klinischen Symptomen, während andere ein Nierenversagen erleiden. Arthropathie, Myopathie und Ulcus duodeni sind seltenere Manifestationen."},"es":{"name":"Xantinuria tipo I","synonyms":["Deficiencia de XDH","Deficiencia de XO","Deficiencia de XOR","Deficiencia de xantina deshidrogenasa","Deficiencia de xantina oxidasa","Deficiencia de xantina oxidorreductasa"],"definition":"La xantinuria tipo I, un tipo de xantinuria clásica (consulte este término), es un trastorno autosómico recesivo poco frecuente del metabolismo de la purina que se caracteriza por un déficit aislado de xantina deshidrogenasa, lo que causa hiperxantinemia con ácido úrico ausente o con niveles bajos, y xantinuria, lo que da lugar a urolitiasis, hematuria, cólico renal e infecciones del tracto urinario, mientras que algunos pacientes son asintomáticos y otros sufren de insuficiencia renal. Las manifestaciones menos comunes incluyen artropatía, miopatía y úlcera duodenal."},"it":{"name":"Xantinuria, tipo I","synonyms":["Deficit di XDH","Deficit di XO","Deficit di XOR","Deficit di xantina deidrogenasi","Deficit di xantina ossidasi","Deficit di xantina ossidoreduttasi"],"definition":"La xantinuria tipo I, una forma della xantinuria classica (si veda questo termine), è un raro difetto del metabolismo delle purine, a trasmissione autosomica recessiva, caratterizzato da deficit isolato di xantina deidrogenasi, che causa iperxantinemia associata a xantinuria, in assenza o in presenza di bassi livelli di acido urico, che esitano nell'urolitiasi, ematuria, coliche renali e infezioni urinarie; alcuni pazienti sono asintomatici e altri presentano insufficienza renale. Sintomi meno comuni sono l'artropatia, la miopatia e l'ulcera duodenale."},"nl":{"name":"Xanthinurie type I","synonyms":["XDH-deficiëntie","XO-deficiëntie","XOR-deficiëntie","Xanthine-oxidasedeficiëntie","Xanthine-oxidoreductasedeficiëntie","Xanthinedehydrogenasedeficiëntie"],"definition":"Een type van klassieke xanthinurie en een zeldzame autosomaal recessieve stoornis van purinemetabolisme, gekenmerkt door geïsoleerde deficiëntie van xanthine-dehydrogenase, die hyperxanthinemie met weinig of geen urinezuur en xanthinurie veroorzaakt, wat leidt tot urolithiase, hematurie, nierkolieken en infecties van urinewegen, terwijl sommige patiënten asymptomatisch zijn en anderen lijden aan nierfalen. Minder gangbare manifestaties zijn onder meer artropathie, myopathie, en ulcus van duodenum."},"pt":{"name":"Xantinúria tipo I"},"pl":{"name":"Ksanturia typu I","synonyms":["Niedobór dehydrogenazy ksantynowej","Niedobór oksydazy ksantynowej","Niedobór oksydoreduktazy ksantynowej","Niedobór XDH","Niedobór XO","Niedobór XOR"]},"cs":{"name":"Xanthinurie, typ I","synonyms":["Deficit XDH","Deficit XO","Deficit XOR","Deficit xanthin dehydrogenázy","Deficit xanthinoxidázy","Deficit xanthin oxidoreduktázy"]},"uk":{"name":"Ксантинурія, тип I","synonyms":["Дефіцит ксантиндегідрогенази","Дефіцит ксантиноксидази","Дефіцит ксантиноксидоредуктази","Дефіцит XDH","Відсутність XO","Дефіцит XOR"],"definition":"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer."},"zh":{"name":"黄嘌呤尿症I型","synonyms":["黄嘌呤氧化还原酶缺乏症"],"definition":"黄嘌呤尿症I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的孤立性缺乏，引起高黄嘌呤血症，伴尿酸降低或缺失以及黄嘌呤尿，这导致尿石症、血尿、肾绞痛和尿路感染。有些病人没有症状，另一些则出现肾功能衰竭。较少见的表现包括关节病、肌病和十二指肠溃疡。"},"tr":{"name":"Ksantinüri tip I","synonyms":["XO eksikliği","XDH eksikliği","XOR eksikliği","Ksantin oksidaz eksikliği","Ksantin dehidrojenaz eksikliği","Ksantin oksidoredüktaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"278300","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":"1365934556"},{"source":"MONDO","code":"0010209","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562584","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268118","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5621","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":"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}