Details of Disease | DrugMAP

General Information of Disease (ID: DISIRVYD)

Disease Name	Xanthinuria type I
Synonyms	hereditary xanthinuria, type I; type 1 xanthinuria; XDH deficiency; xanthine dehydrogenase deficiency; XOR deficiency; xanthine oxidoreductase deficiency; xanthine oxidase deficiency; XO deficiency; xanthinuria type 1; xanthinuria type I; isolated xanthine oxidase deficiency; xanthinuria, type 1; xanthinuria, type I; XAN1
Definition	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.
Disease Hierarchy	DISLFYYH: Hereditary xanthinuria DISIRVYD: Xanthinuria type I
Disease Identifiers	MONDO ID MONDO_0010209 MESH ID C562584 UMLS CUI C0268118 OMIM ID 278300 MedGen ID 82771 Orphanet ID 93601 SNOMED CT ID 124147007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
XDH	OTT40HOD	Strong	Autosomal recessive	[1]
MKKS	OTLF5T11	Strong	Genetic Variation	[4]
MOCOS	OT0TL3Q5	Strong	Genetic Variation	[4]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AOX1	TT3MOS2	Strong	Altered Expression	[2]
XDH	TT7RJY8	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
XDH	DECG04O	Strong	Autosomal recessive	[1]
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References

1	XDH gene mutation is the underlying cause of classical xanthinuria: a second report. Kidney Int. 2000 Jun;57(6):2215-20. doi: 10.1046/j.1523-1755.2000.00082.x.
2	Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.Nephrol Dial Transplant. 2003 Nov;18(11):2278-83. doi: 10.1093/ndt/gfg385.
3	Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.Clin Nephrol. 2013 Jan;79(1):78-80. doi: 10.5414/cn106994.
4	Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. Biochem Biophys Res Commun. 2001 Apr 20;282(5):1194-200. doi: 10.1006/bbrc.2001.4719.