MCID: XNT004
MIFTS: 39

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 10 47 12 65
Xanthinuria, Type I 36 65
Xanthine Dehydrogenase Deficiency 10
 
Xanthine Oxidase Deficiency 10
Xanthine Dehydrogenase 11
Xanthinuria, Type Ii 36

Classifications:



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Disease Ontology10 DOID:0060236
SNOMED-CT59 124147007, 72682008
UMLS65 C0268118, C1863688, C0220988

Summaries for Xanthinuria

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Disease Ontology:10 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 hereditary xanthinuria. An important gene associated with Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways are Nucleotide Metabolism and Uricosurics Pathway, Pharmacodynamics. Affiliated tissues include brain, endothelial and smooth muscle, and related mouse phenotype renal/urinary system.

Wikipedia:68 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 2
Hereditary Xanthinuria

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1xanthinuria, type i34.0AOX1, SUOX, XDH
2hereditary xanthinuria12.3
3xanthinuria type 212.2
4diarrhea 4, malabsorptive, congenital10.4HPRT1, XDH
5xanthogranulomatous sialadenitis10.4AOX1, MOCOS, XDH
6vohwinkel syndrome10.4SUOX, XDH
7combined oxidative phosphorylation deficiency 610.3APRT, HPRT1
8momo syndrome10.2AOX1, SUOX, XDH
9congenital disorder of glycosylation, type iia10.2APRT, HPRT1
10immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome10.1AOX1, APRT, SUOX, XDH
11lesch-nyhan syndrome10.0
12molybdenum cofactor deficiency10.0
13deafness, x-linked 19.9ADSL, HPRT1
14spinal muscular atrophy, lower extremity-predominant, 2, ad9.9ALDOB, SUOX
15spastic paraplegia, optic atrophy, and neuropathy9.9HPRT1, SLC22A12, SLC2A9
16hyperammonemia due to carbonic anhydrase va deficiency9.9APRT, DPYS, HPRT1, XDH
17medullary cystic kidney disease 29.9HPRT1, SLC22A12, SLC2A9
18discrete subaortic stenosis9.9HPRT1, SLC22A12, SLC2A9
19nephrolithiasis9.8
20renal tubular acidosis9.8
21thalassemia9.8
22nephrocalcinosis9.8
23ehlers-danlos syndrome9.8
24thyroiditis9.8
25duodenitis9.8
26neuromyelitis optica9.8APRT, SLC22A12, SLC2A9
27hprt-related gout9.8ADSL, APRT, HPRT1, XDH
28dihydropyrimidine dehydrogenase deficiency9.7ADSL, DPYS
29klinefelter's syndrome9.7HPRT1, SLC22A12, SLC2A9, XDH
30cortical thymoma9.6ADSL, APRT, HPRT1, MOCOS, XDH
31brain cancer9.0ADSL, APRT, HPRT1, SLC22A12, SLC2A9, XDH
32warburg micro syndrome5.6ADSL, 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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Anatomical Context for Xanthinuria

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MalaCards organs/tissues related to Xanthinuria:

33
Brain, Endothelial, Smooth muscle, Kidney, Skin, Testes, Thyroid

Animal Models for Xanthinuria or affiliated genes

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MGI Mouse Phenotypes related to Xanthinuria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7APRT, HPRT1, SLC22A12, SLC2A9, XDH

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
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. (23203137)
2012
8
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. (22981351)
2012
9
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. (21963464)
2012
10
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. (22821105)
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
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. (14627688)
2003
17
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. (12670960)
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
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. (1803043)
1991
36
The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria]. (1912172)
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
Family study of hereditary xanthinuria--decreased duodenal xanthine oxidase activity and increased urinary excretion of xanthine and hypoxanthine in heterozygotes. (2624237)
1989
40
A new case with hereditary xanthinuria: response to exercise. (2736776)
1989
41
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. (2754557)
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
Hereditary xanthinuria presenting in infancy with nephrolithiasis. (3755469)
1986
45
Effect of fructose infusion in hereditary xanthinuria. (3728145)
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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Biological processes related to Xanthinuria according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1adenine metabolic processGO:004608310.4APRT, HPRT1
2xanthine catabolic processGO:000911510.3AOX1, XDH
3purine nucleotide biosynthetic processGO:000616410.2ADSL, HPRT1
4water-soluble vitamin metabolic processGO:000676710.1AOX1, NFS1
5nucleobase-containing small molecule metabolic processGO:005508610.0APRT, HPRT1, XDH
6protein homotetramerizationGO:00512899.7DPYS, HPRT1
7purine nucleobase metabolic processGO:00061449.5ADSL, APRT, HPRT1, XDH
8small molecule metabolic processGO:00442818.2ALDOB, APRT, DPYS, HPRT1, XDH

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:005066010.0AOX1, XDH
2molybdopterin cofactor bindingGO:00435469.9AOX1, SUOX

Sources for Xanthinuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet