Details of Disease | DrugMAP

General Information of Disease (ID: DISRWX6S)

Disease Name	Xanthinuria type II
Synonyms	type 2 xanthinuria; xanthinuria type 2; xanthine dehydrogenase and aldehyde oxidase combined deficiency of; type II xanthinuria; xanthinuria, type 2; xanthinuria, type II; XAN2; xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency; xanthine dehydrogenase and aldehyde oxidase, combined deficiency of; XDH and AOX 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.
Disease Hierarchy	DISLFYYH: Hereditary xanthinuria DISRWX6S: Xanthinuria type II
Disease Identifiers	MONDO ID MONDO_0011346 MESH ID C566358 UMLS CUI C1863688 OMIM ID 603592 MedGen ID 350953 Orphanet ID 93602

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

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

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MKKS	OTLF5T11	Strong	Genetic Variation	[2]
MOCOS	OT0TL3Q5	Definitive	Autosomal recessive	[3]
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References

1	Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. J Clin Invest. 1997 May 15;99(10):2391-7. doi: 10.1172/JCI119421.
2	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.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.