MCID: XNT004
MIFTS: 37

Xanthinuria malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories

Aliases & Classifications for Xanthinuria

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Aliases & Descriptions for Xanthinuria:

Name: Xanthinuria 8 44 61
Xanthine Dehydrogenase Deficiency 8
Xanthine Oxidase Deficiency 8
 
Xanthine Dehydrogenase 9
Xanthinuria, Type I 61


Classifications:



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Disease Ontology8 DOID:0060236

Summaries for Xanthinuria

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Disease Ontology:8 A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.

MalaCards based summary: Xanthinuria, also known as xanthine dehydrogenase deficiency, is related to xanthinuria type 2 and xanthinuria, type i. An important gene associated with Xanthinuria is XDH (xanthine dehydrogenase), and among its related pathways are Purine metabolism and Disease. The compounds ipdr and 5-hydroxypyrazinamide have been mentioned in the context of this disorder. Affiliated tissues include thyroid and testes.

Wikipedia:64 Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the... more...

Related Diseases for Xanthinuria

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Graphical network of the top 20 diseases related to Xanthinuria:



Diseases related to xanthinuria

Symptoms for Xanthinuria

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Drugs & Therapeutics for Xanthinuria

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Drug clinical trials:

Search ClinicalTrials for Xanthinuria

Search NIH Clinical Center for Xanthinuria

Genetic Tests for Xanthinuria

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Anatomical Context for Xanthinuria

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MalaCards organs/tissues related to Xanthinuria:

31
Thyroid, Testes

Animal Models for Xanthinuria or affiliated genes

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Publications for Xanthinuria

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Articles related to Xanthinuria:

(show all 27)
idTitleAuthorsYear
1
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. (23249873)
2013
2
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. (22981351)
2012
3
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. (21963464)
2012
4
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. (22821105)
2012
5
Xanthinuria type I: a rare cause of urolithiasis. (17115198)
2007
6
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)
2007
7
Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. (15258855)
2004
8
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. (14551354)
2003
9
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. (14627688)
2003
10
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. (12670960)
2003
11
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. (14624414)
2003
12
Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. (12406401)
2002
13
Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. (11302742)
2001
14
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. (11379872)
2001
15
Human xanthine dehydrogenase cDNA sequence and protein in an atypical case of type I xanthinuria in comparison with normal subjects. (11165212)
2001
16
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. (10844591)
2000
17
Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria. (11783533)
2000
18
A case of classical xanthinuria (type 1) with diabetes mellitus and Hashimoto's thyroiditis. (10481935)
1999
19
Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. (10365419)
1999
20
Two siblings with classical xanthinuria type 1: significance of allopurinol loading test. (9510406)
1998
21
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (9153281)
1997
22
Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. (8976115)
1996
23
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. (7660932)
1994
24
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. (1803043)
1991
25
The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria]. (1912172)
1991
26
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. (2379312)
1990
27
Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome. (6651793)
1983

Variations for Xanthinuria

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Expression for genes affiliated with Xanthinuria

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Search GEO for disease gene expression data for Xanthinuria.

Pathways for genes affiliated with Xanthinuria

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Pathways related to Xanthinuria according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
9.4APRT, XDH
29.0NFS1, AOX1, MOCOS
3
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
9.0MOCOS, AOX1, NFS1
4
Show member pathways
7.1NFS1, AOX1, MOCOS, SUOX, APRT, XDH

Compounds for genes affiliated with Xanthinuria

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 1BitterDB, 28IUPHAR
See all sources

Compounds related to Xanthinuria according to GeneCards Suite gene sharing:

(show all 44)
idCompoundScoreTop Affiliating Genes
1ipdr4410.0AOX1, XDH
25-hydroxypyrazinamide44 2411.0AOX1, XDH
3isovanillin4410.0AOX1, XDH
4penciclovir4410.0AOX1, XDH
5famciclovir44 1111.0AOX1, XDH
6oxypurinol4410.0AOX1, XDH
7pyrazinamide44 50 1112.0AOX1, XDH
8mercaptopurine50 1111.0AOX1, XDH
9aristolochic acid44 111.0XDH, AOX1
10flavin-adenine dinucleotide44 1110.9AOX1, XDH
11acetaldehyde28 44 2411.9AOX1, XDH
12cimetidine44 28 1111.9XDH, AOX1
13menadione44 24 1111.8AOX1, XDH
142,8-dihydroxyadenine449.8XDH, APRT
15iron-sulfur449.8AOX1, NFS1
16azathioprine44 1 50 1112.8AOX1, XDH
17purine nucleoside449.8APRT, XDH
18inosine44 2410.8XDH, APRT
19hypoxanthine44 24 1111.7APRT, XDH
20Pyridoxal 5'-phosphate249.7MOCOS, NFS1
21s-sulfocysteine449.6XDH, SUOX
22FAD249.6AOX1, XDH
23pterin44 2410.6XDH, SUOX
24adenine44 24 1111.6APRT, XDH
25nitrate449.5AOX1, SUOX
26guanine44 24 1111.4XDH, APRT
27allopurinol44 50 1111.4APRT, XDH, AOX1
28copper44 2410.3AOX1, SUOX
29Hydrogen peroxide249.2AOX1, XDH, SUOX
30sorafenib44 50 1111.2AOX1, SUOX, XDH
31heme28 24 1111.1AOX1, SUOX
32superoxide44 2410.1AOX1, SUOX, XDH
33uric acid44 2410.0APRT, SUOX, XDH
34Water249.0SUOX, AOX1, XDH
35dmso448.9XDH, SUOX
36oxygen44 249.9AOX1, SUOX, XDH
37molybdenum44 249.7XDH, SUOX, MOCOS, AOX1
38iron44 249.6NFS1, SUOX, XDH, AOX1
39xanthine44 249.6APRT, XDH, AOX1, SUOX
40purine44 249.6XDH, APRT, AOX1, SUOX
41sulfur448.6NFS1, AOX1, MOCOS, SUOX
42molybdopterin44 249.2XDH, NFS1, AOX1, MOCOS, SUOX
43moco448.2NFS1, AOX1, SUOX, XDH, MOCOS
44cysteine448.1NFS1, XDH, SUOX, MOCOS, AOX1

GO Terms for genes affiliated with Xanthinuria

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Cellular components related to Xanthinuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.9NFS1, AOX1, MOCOS, APRT, XDH

Biological processes related to Xanthinuria according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1molybdopterin cofactor biosynthetic processGO:00323249.5MOCOS, NFS1
2Mo-molybdopterin cofactor biosynthetic processGO:00067779.5NFS1, MOCOS
3nucleobase-containing small molecule metabolic processGO:00550869.4APRT, XDH
4purine nucleobase metabolic processGO:00061449.3XDH, APRT
5water-soluble vitamin metabolic processGO:00067679.2MOCOS, AOX1, NFS1
6lactationGO:00075959.1APRT, XDH
7sulfur amino acid metabolic processGO:00000969.1NFS1, SUOX
8vitamin metabolic processGO:00067669.1NFS1, AOX1, MOCOS
9small molecule metabolic processGO:00442817.3NFS1, AOX1, MOCOS, SUOX, APRT, XDH

Molecular functions related to Xanthinuria according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1xanthine dehydrogenase activityGO:00048549.8AOX1, XDH
2UDP-N-acetylmuramate dehydrogenase activityGO:00087629.7XDH, AOX1
32 iron, 2 sulfur cluster bindingGO:00515379.6AOX1, XDH
4iron ion bindingGO:00055069.6AOX1, XDH
5pyridoxal phosphate bindingGO:00301709.3NFS1, MOCOS
6flavin adenine dinucleotide bindingGO:00506609.3AOX1, XDH
7molybdenum ion bindingGO:00301519.2MOCOS, SUOX
8molybdopterin cofactor bindingGO:00435469.0AOX1, SUOX, XDH
9electron carrier activityGO:00090558.9XDH, SUOX, AOX1

Sources for Xanthinuria

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet