Xanthinuria, Type I (XAN1)

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OMIM 57 278300 Orphanet 59 ORPHA93601 UMLS via Orphanet 74 C0268118 ICD10 via Orphanet 34 E79.8 MedGen 42 C0268118

MeSH 44 D011686 D052878 ICD10 33 N20-N23 SNOMED-CT via HPO 69 258211005 43064006 129565002 124147007 72682008 190919008 54627004 45816000 more UMLS 73 C0268118 C0451641

OMIM : ⁵⁷ Xanthinuria, which was first described by Dent and Philpot (1954), is characterized by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Two clinically similar but distinct forms of xanthinuria are recognized. In type I there is an isolated deficiency of xanthine dehydrogenase, and in type II (XAN2; 603592) there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase (603592). Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995). Xanthinuria also occurs in molybdenum cofactor deficiency (252150). Type II xanthinuria is caused by mutation in the MOCOS gene (613274), which encodes the enzyme that sulfurates the molybdenum cofactor for XDH and AOX1 (602841). (278300)

MalaCards based summary : Xanthinuria, Type I, also known as xanthine dehydrogenase deficiency, is related to adenine phosphoribosyltransferase deficiency and xanthinuria. An important gene associated with Xanthinuria, Type I is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include kidney, liver and skeletal muscle, and related phenotypes are myopathy and abnormality of metabolism/homeostasis

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93601Disease definitionType 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.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : ⁷⁵ Xanthinuria 1: A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. XAN1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol.

Clinical features from OMIM:

278300

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Search GEO for disease gene expression data for Xanthinuria, Type I.