MCID: XNT004
MIFTS: 36

Xanthinuria malady

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Xanthinuria

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Aliases & Descriptions for Xanthinuria:

Name: Xanthinuria 11 13 25 48 66
Xanthinuria, Type I 37 66
Xanthine Dehydrogenase Deficiency 11
 
Xanthine Oxidase Deficiency 11
Xanthinuria, Type Ii 37

Classifications:



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Disease Ontology11 DOID:0060236
SNOMED-CT60 124147007, 72682008

Summaries for Xanthinuria

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Disease Ontology:11 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 xanthinuria, type i, is related to xanthinuria, type i and xanthinuria, type ii. An important gene associated with Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways are Uricosurics Pathway, Pharmacodynamics and Nucleotide Metabolism. Affiliated tissues include testes and thyroid.

Wikipedia:69 Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the... more...

Related Diseases for Xanthinuria

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Diseases in the Xanthinuria family:

Xanthinuria, Type I Xanthinuria, Type Ii
Hereditary Xanthinuria

Diseases related to Xanthinuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1xanthinuria, type i34.1AOX1, SUOX, XDH
2xanthinuria, type ii12.3
3hereditary xanthinuria12.3
4diarrhea 4, malabsorptive, congenital10.4HPRT1, XDH
5distichiasis10.4AOX1, MOCOS, XDH
6bart-pumphrey syndrome10.4SUOX, XDH
7dent disease 210.4APRT, HPRT1
8complement component deficiency10.3AOX1, SUOX, XDH
9congenital disorder of glycosylation, type iia10.3APRT, HPRT1
10inherited thyroxine-binding globulin deficiency10.2AOX1, APRT, SUOX, XDH
11spinal muscular atrophy, lower extremity-predominant, 2, ad10.2ALDOB, SUOX
12spastic paraplegia, optic atrophy, and neuropathy10.1HPRT1, SLC22A12, SLC2A9
13glomerulocystic kidney disease with hyperuricemia and isosthenuria10.1HPRT1, SLC22A12, SLC2A9
14subvalvular aortic stenosis10.0HPRT1, SLC22A12, SLC2A9
15meier-gorlin syndrome 410.0APRT, DPYS, HPRT1, XDH
16lesch-nyhan syndrome10.0
17molybdenum cofactor deficiency10.0
18epileptic encephalopathy, early infantile, 810.0ADSL, HPRT1
19sex differentiation disease9.9HPRT1, SLC22A12, SLC2A9, XDH
20nontoxic goiter9.9HPRT1, SLC22A12, SLC2A9, XDH
21combined oxidative phosphorylation deficiency 69.9ADSL, APRT, HPRT1, XDH
22nephrolithiasis9.8
23renal tubular acidosis9.8
24thalassemia9.8
25nephrocalcinosis9.8
26ehlers-danlos syndrome9.8
27thyroiditis9.8
28duodenitis9.8
29dihydropyrimidine dehydrogenase deficiency9.8ADSL, DPYS
30plasma cell neoplasm9.5ADSL, AOX1, APRT, HPRT1, MOCOS, XDH
31van maldergem syndrome5.1ADSL, ALDOB, AOX1, APRT, CLINT1, DPYS

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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Xanthinuria


Cochrane evidence based reviews: xanthinuria, type i

Genetic Tests for Xanthinuria

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Genetic tests related to Xanthinuria:

id Genetic test Affiliating Genes
1 Xanthinuria25

Anatomical Context for Xanthinuria

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MalaCards organs/tissues related to Xanthinuria:

34
Testes, Thyroid

Animal Models for Xanthinuria or affiliated genes

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Publications for Xanthinuria

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Articles related to Xanthinuria:

(show all 48)
idTitleAuthorsYear
1
Modern diagnostic approach to hereditary xanthinuria. (25370766)
2015
2
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. (26110747)
2015
3
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. (26478726)
2015
4
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria. (25967871)
2015
5
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. (23249873)
2013
6
Classical xanthinuria: a rare cause of pediatric urolithiasis. (26328123)
2013
7
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. (22981351)
2012
8
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. (21963464)
2012
9
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. (22821105)
2012
10
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. (23203137)
2012
11
Xanthinuria in a domestic shorthair cat. (19151408)
2009
12
Xanthinuria type I: a rare cause of urolithiasis. (17115198)
2007
13
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
14
Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. (15258855)
2004
15
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. (14551354)
2003
16
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. (12670960)
2003
17
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. (14627688)
2003
18
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. (14624414)
2003
19
Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. (12406401)
2002
20
Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. (11302742)
2001
21
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. (11379872)
2001
22
Human xanthine dehydrogenase cDNA sequence and protein in an atypical case of type I xanthinuria in comparison with normal subjects. (11165212)
2001
23
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. (10844591)
2000
24
Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria. (11783533)
2000
25
A case of classical xanthinuria (type 1) with diabetes mellitus and Hashimoto's thyroiditis. (10481935)
1999
26
Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. (10365419)
1999
27
Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria. (9598085)
1998
28
Two siblings with classical xanthinuria type 1: significance of allopurinol loading test. (9510406)
1998
29
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (9153281)
1997
30
Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. (8976115)
1996
31
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. (7660932)
1994
32
Hereditary xanthinuria: report of two cases. (8104605)
1993
33
A Chinese case of hereditary xanthinuria. (8295411)
1993
34
Hereditary xanthinuria and Ehlers-Danlos syndrome. (1293384)
1992
35
The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria]. (1912172)
1991
36
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. (1803043)
1991
37
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. (2379312)
1990
38
Asymptomatic hereditary xanthinuria: a case report. (2273608)
1990
39
A new case with hereditary xanthinuria: response to exercise. (2736776)
1989
40
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. (2754557)
1989
41
Family study of hereditary xanthinuria--decreased duodenal xanthine oxidase activity and increased urinary excretion of xanthine and hypoxanthine in heterozygotes. (2624237)
1989
42
Hereditary xanthinuria in 2 Pakistani sisters: asymptomatic in one with beta-thalassemia but causing xanthine stone, obstructive uropathy and hypertension in the other. (3339736)
1988
43
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. (3818951)
1987
44
Effect of fructose infusion in hereditary xanthinuria. (3728145)
1986
45
Hereditary xanthinuria presenting in infancy with nephrolithiasis. (3755469)
1986
46
Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria. (6423323)
1984
47
Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome. (6651793)
1983
48
Hereditary xanthinuria: report on three patients and short review of the literature. (927625)
1977

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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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:00058296.0ADSL, ALDOB, AOX1, APRT, CLINT1, DPYS

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1molybdopterin cofactor biosynthetic processGO:003232410.4MOCOS, NFS1
2Mo-molybdopterin cofactor biosynthetic processGO:000677710.4MOCOS, NFS1
3xanthine catabolic processGO:000911510.2AOX1, XDH
4adenine metabolic processGO:004608310.2APRT, HPRT1
5adenine salvageGO:000616810.2APRT, HPRT1
6purine ribonucleoside salvageGO:000616610.2APRT, HPRT1
7organic acid transmembrane transportGO:190382510.1SLC22A12, SLC2A9
8purine nucleotide biosynthetic processGO:000616410.1ADSL, HPRT1
9urate metabolic processGO:004641510.0SLC22A12, SLC2A9
10grooming behaviorGO:00076259.9APRT, HPRT1
11purine-containing compound salvageGO:00431019.8APRT, HPRT1

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

idNameGO IDScoreTop Affiliating Genes
1molybdenum ion bindingGO:003015110.3MOCOS, SUOX
2xanthine dehydrogenase activityGO:000485410.2AOX1, XDH
3urate transmembrane transporter activityGO:001514310.1SLC22A12, SLC2A9
4oxidoreductase activity, acting on CH-OH group of donorsGO:001661410.0AOX1, XDH
52 iron, 2 sulfur cluster bindingGO:00515379.9AOX1, XDH
6molybdopterin cofactor bindingGO:00435469.9AOX1, SUOX, XDH

Sources for Xanthinuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet