MCID: XNT004
MIFTS: 37

Xanthinuria malady

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

Summaries for Xanthinuria

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Disease Ontology:9 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 isovanillin and 5-hydroxypyrazinamide have been mentioned in the context of this disorder. Affiliated tissues include thyroid and testes.

Wikipedia:63 Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the... more...

Aliases & Classifications for Xanthinuria

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Xanthinuria, Aliases & Descriptions:

Name: Xanthinuria 9 43 60
Xanthine Dehydrogenase Deficiency 9
Xanthine Oxidase Deficiency 9
 
Xanthine Dehydrogenase 10
Xanthinuria, Type I 60


Classifications:



External Ids:

Disease Ontology9 DOID:0060236

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:
43Novoseek, 24HMDB, 12DrugBank, 49PharmGKB, 2BitterDB, 28IUPHAR
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Compounds related to Xanthinuria according to GeneCards Suite gene sharing:

(show all 44)
idCompoundScoreTop Affiliating Genes
1isovanillin4310.0XDH, AOX1
25-hydroxypyrazinamide43 2411.0XDH, AOX1
3ipdr4310.0XDH, AOX1
4penciclovir4310.0XDH, AOX1
5oxypurinol4310.0AOX1, XDH
6famciclovir43 1211.0AOX1, XDH
7pyrazinamide43 49 1212.0AOX1, XDH
8mercaptopurine49 1211.0XDH, AOX1
9aristolochic acid43 211.0AOX1, XDH
10flavin-adenine dinucleotide43 1210.9AOX1, XDH
11acetaldehyde28 43 2411.9XDH, AOX1
12cimetidine43 28 1211.9AOX1, XDH
132,8-dihydroxyadenine439.8XDH, APRT
14menadione43 24 1211.8XDH, AOX1
15iron-sulfur439.8NFS1, AOX1
16azathioprine43 2 49 1212.8AOX1, XDH
17purine nucleoside439.8XDH, APRT
18inosine43 2410.8APRT, XDH
19hypoxanthine43 24 1211.7APRT, XDH
20Pyridoxal 5'-phosphate249.7NFS1, MOCOS
21s-sulfocysteine439.6XDH, SUOX
22FAD249.6XDH, AOX1
23pterin43 2410.6SUOX, XDH
24adenine43 24 1211.6XDH, APRT
25nitrate439.5SUOX, AOX1
26guanine43 24 1211.4APRT, XDH
27allopurinol43 49 1211.4XDH, APRT, AOX1
28copper43 2410.3AOX1, SUOX
29Hydrogen peroxide249.2AOX1, SUOX, XDH
30sorafenib43 49 1211.2AOX1, SUOX, XDH
31heme28 24 1211.1AOX1, SUOX
32superoxide43 2410.1AOX1, SUOX, XDH
33uric acid43 2410.0XDH, APRT, SUOX
34Water249.0AOX1, SUOX, XDH
35dmso438.9SUOX, XDH
36oxygen43 249.9AOX1, SUOX, XDH
37molybdenum43 249.7XDH, SUOX, MOCOS, AOX1
38iron43 249.6NFS1, AOX1, SUOX, XDH
39xanthine43 249.6XDH, APRT, SUOX, AOX1
40purine43 249.6AOX1, SUOX, APRT, XDH
41sulfur438.6NFS1, AOX1, MOCOS, SUOX
42moco438.2NFS1, XDH, SUOX, MOCOS, AOX1
43molybdopterin43 249.2XDH, SUOX, MOCOS, AOX1, NFS1
44cysteine438.1XDH, SUOX, MOCOS, AOX1, NFS1

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

Products for genes affiliated with Xanthinuria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Xanthinuria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet