Xanthinuria malady

Wikipedia: Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the...⁴⁴ more...

MalaCards: Xanthinuria is related to xanthinuria type 1 and xanthinuria type 2. An important gene associated with Xanthinuria is XDH (xanthine dehydrogenase), and among its related pathways is Metabolism of water-soluble vitamins and cofactors. The compounds ipdr and isovanillin have been mentioned in the context of this disorder. Affiliated tissues include thyroid.

xanthinuria 7 32 43

Disease types for xanthinuria family:

xanthinuria type 1	xanthinuria type 2

Diseases related to xanthinuria by text searches and GeneDecks gene sharing:

(show all 16)

id	Related Disease	Score	Top Affiliating Genes
1	xanthinuria type 1	31.9	XDH, AOX1
2	xanthinuria type 2	30.4	AOX1, MOCOS, XDH
3	lesch-nyhan syndrome	27.0	APRT, XDH
4	urolithiasis	26.8	XDH, APRT
5	molybdenum cofactor deficiency	26.7	SUOX, AOX1, XDH
6	molybdenum cofactor deficiency, type a	12.9	AOX1, XDH
7	sulfite oxidase deficiency	12.7	SUOX, XDH
8	adenine phosphoribosyltransferase deficiency	12.4	APRT, XDH
9	hyperuricemia	12.1	APRT, XDH
10	nephrolithiasis	11.9	XDH, APRT
11	bilirubin metabolic disorder	11.7	SUOX, APRT, XDH
12	tuberculosis	11.3	XDH, APRT, AOX1, NFS1
13	anemia	11.1	NFS1, SUOX, APRT, XDH
14	diabetes mellitus	5.6
15	thyroiditis	5.6
16	type 1 diabetes mellitus	5.6

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to xanthinuria:

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Articles related to xanthinuria:

(show all 20)

id	Title	Authors	Year	Affiliating Genes
1	Xanthinuria type I: a rare cause of urolithiasis. (17115198)	Arikyants N.... Steinmann B.	2007	XDH
2	Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the human molybdenum cofactor sulfurase (HMCS) associated with type II classical xanthinuria. (17368066)	Peretz H.... Landau D.	2007	XDH, AOX1, NFS1
3	Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy (15258855)	Rebentisch G.... Muche J.	2004	APRT
4	Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. (14551354)	Gok F.... Topaloglu R.	2003	XDH
5	Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. (12670960)	Leimkuhler S.... Rajagopalan K.V.	2003	XDH
6	Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. (14624414)	Yamamoto T.... Hada T.	2003	XDH, AOX1, MOCOS
7	Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria (12406401)	Orts Costa J.A.... Ferrando Monleon S.	2002	APRT
8	Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. (11302742)	Ichida K.... Nishino T.	2001	XDH, AOX1, MOCOS
9	Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. (11379872)	Sakamoto N.... Hada T.	2001	XDH
10	Human xanthine dehydrogenase cDNA sequence and protein in an atypical case of type I xanthinuria in comparison with normal subjects. (11165212)	Yamamoto T.... Hada T.	2001	XDH
11	XDH gene mutation is the underlying cause of classical xanthinuria: a second report. (10844591)	Levartovsky D.... Peretz H.	2000	XDH, AOX1
12	Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria. (11783533)	Lagziel A.... Peretz H.	2000	XDH
13	A case of classical xanthinuria (type 1) with diabetes mellitus and Hashimoto's thyroiditis. (10481935)	Shibutani Y.... Higashino K.	1999	XDH, AOX1
14	Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria) (10365419)	Mayaudon H.... Burnat P.	1999	XDH
15	Two siblings with classical xanthinuria type 1: significance of allopurinol loading test. (9510406)	Ichida K.... Hosoya T.	1998	XDH, AOX1
16	Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (9153281)	Ichida K.... Sakai O.	1997	XDH
17	Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency (8976115)	Sumi S.... Wada Y.	1996	XDH, AOX1, SUOX
18	The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria (1912172)	Sastre Pascual J.F.... Arenas Adarve M.	1991	XDH
19	A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. (1803043)	Yamamoto T.... Higashino K.	1991	XDH
20	Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. (2379312)	Kawachi M.... Tarui S.	1990	XDH

Genes related to xanthinuria according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	XDH	xanthine dehydrogenase	11.1	Summaries, Orthologs, Publications
2	AOX1	aldehyde oxidase 1	11.0	Publications, Orthologs
3	MOCOS	molybdenum cofactor sulfurase	11.0	Publications
4	SUOX	sulfite oxidase	11.0	Publications
5	APRT	adenine phosphoribosyltransferase	11.0	Publications
6	NFS1	NFS1 nitrogen fixation 1 homolog (S. cerevisiae)	11.0	Publications

Pathways related to xanthinuria according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Metabolism of water-soluble vitamins and cofactors38	9.4	MOCOS, NFS1

Compounds related to xanthinuria according to GeneDecks:

(show all 33)

id	Compound	Score	Top Affiliating Genes
1	ipdr32	10.0	XDH, AOX1
2	isovanillin32	10.0	AOX1, XDH
3	5-hydroxypyrazinamide32 18	11.0	AOX1, XDH
4	penciclovir32	10.0	AOX1, XDH
5	famciclovir32 9 9	11.9	XDH, AOX1
6	oxypurinol32	9.9	AOX1, XDH
7	pyrazinamide34 32 9 9	12.9	AOX1, XDH
8	aristolochic acid32	9.9	AOX1, XDH
9	flavin-adenine dinucleotide32 9 9	11.8	XDH, AOX1
10	s-sulfocysteine32	9.8	XDH, SUOX
11	acetaldehyde32 18	10.7	AOX1, XDH
12	iron-sulfur32	9.7	AOX1, NFS1
13	pterin32 18	10.7	XDH, SUOX
14	2,8-dihydroxyadenine32	9.6	XDH, APRT
15	nitrate32	9.5	SUOX, AOX1
16	cimetidine32 9 9	11.5	AOX1, XDH
17	purine nucleoside32	9.5	XDH, APRT
18	Pyridoxal Phosphate9 9	10.4	NFS1, MOCOS
19	inosine32 18	10.4	XDH, APRT
20	sorafenib32 9 9	11.3	XDH, AOX1, SUOX
21	hypoxanthine32 9 18 9	12.3	XDH, APRT
22	menadione32 9 18 9	12.3	AOX1, XDH
23	allopurinol32 9 9	11.2	APRT, AOX1, XDH
24	superoxide32 18	10.0	SUOX, AOX1, XDH
25	uric acid32 18	9.9	SUOX, APRT, XDH
26	molybdenum32 18	9.9	SUOX, MOCOS, AOX1, XDH
27	iron32 18	9.8	AOX1, NFS1, SUOX, XDH
28	sulfur32	8.7	MOCOS, NFS1, AOX1, SUOX
29	xanthine32 18	9.6	SUOX, AOX1, APRT, XDH
30	purine32 18	9.5	SUOX, AOX1, APRT, XDH
31	molybdopterin32 18	9.3	AOX1, SUOX, NFS1, MOCOS, XDH
32	moco32	8.3	XDH, MOCOS, AOX1, SUOX, NFS1
33	cysteine32	8.3	XDH, SUOX, NFS1, MOCOS, AOX1

Cellular components related to xanthinuria according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	7.6	XDH, MOCOS, APRT, SUOX, NFS1

Biological processes related to xanthinuria according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	molybdopterin cofactor biosynthetic process	GO:032324	9.6	MOCOS, NFS1
2	Mo-molybdopterin cofactor biosynthetic process	GO:006777	9.6	NFS1, MOCOS
3	sulfur amino acid metabolic process	GO:000096	9.4	NFS1, SUOX
4	water-soluble vitamin metabolic process	GO:006767	9.3	NFS1, MOCOS
5	purine nucleobase metabolic process	GO:006144	9.3	APRT, XDH
6	lactation	GO:007595	9.2	APRT, XDH
7	nucleobase-containing small molecule metabolic process	GO:055086	9.2	XDH, APRT
8	vitamin metabolic process	GO:006766	9.1	NFS1, MOCOS
9	small molecule metabolic process	GO:044281	7.7	XDH, MOCOS, APRT, SUOX, NFS1

Molecular functions related to xanthinuria according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	xanthine dehydrogenase activity	GO:004854	9.8	XDH, AOX1
2	UDP-N-acetylmuramate dehydrogenase activity	GO:008762	9.7	AOX1, XDH
3	flavin adenine dinucleotide binding	GO:050660	9.6	XDH, AOX1
4	2 iron, 2 sulfur cluster binding	GO:051537	9.5	XDH, AOX1
5	molybdenum ion binding	GO:030151	9.4	MOCOS, SUOX
6	molybdopterin cofactor binding	GO:043546	9.2	AOX1, XDH, SUOX
7	pyridoxal phosphate binding	GO:030170	9.1	NFS1, MOCOS
8	electron carrier activity	GO:009055	9.0	XDH, AOX1, SUOX