MCID: XNT004
MIFTS: 39

Xanthinuria

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

Aliases & Classifications for Xanthinuria

MalaCards integrated aliases for Xanthinuria:

Name: Xanthinuria 12 76 37 29 55 6 15 73
Xanthinuria, Type I 44 73
Xanthine Dehydrogenase Deficiency 12
Xanthine Oxidase Deficiency 12
Xanthinuria, Type Ii 44

Classifications:



External Ids:

Disease Ontology 12 DOID:0060236
SNOMED-CT 68 124147007 72682008
KEGG 37 H00192

Summaries for Xanthinuria

Disease Ontology : 12 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 ii and xanthinuria, type i. An important gene associated with Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Purine metabolism and Sulfur relay system. Affiliated tissues include testes and thyroid, and related phenotypes are Reduced mammosphere formation and renal/urinary system

Wikipedia : 76 Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the... more...

Related Diseases for Xanthinuria

Graphical network of the top 20 diseases related to Xanthinuria:



Diseases related to Xanthinuria

Symptoms & Phenotypes for Xanthinuria

GenomeRNAi Phenotypes related to Xanthinuria according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 AOX1 DPYS HPRT1 NFS1 SLC22A12 SUOX

MGI Mouse Phenotypes related to Xanthinuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 APRT CLDN16 HPRT1 SLC22A12 SLC2A9 XDH

Drugs & Therapeutics for Xanthinuria

Search Clinical Trials , NIH Clinical Center for Xanthinuria

Cochrane evidence based reviews: xanthinuria, type i

Genetic Tests for Xanthinuria

Genetic tests related to Xanthinuria:

# Genetic test Affiliating Genes
1 Xanthinuria 29

Anatomical Context for Xanthinuria

MalaCards organs/tissues related to Xanthinuria:

41
Testes, Thyroid

Publications for Xanthinuria

Articles related to Xanthinuria:

(show top 50) (show all 54)
# Title Authors Year
1
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). ( 29935280 )
2018
2
Hereditary xanthinuria is not so rare disorder of purine metabolism. ( 29723117 )
2018
3
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. ( 29916968 )
2018
4
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation]. ( 27078247 )
2016
5
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. ( 27919260 )
2016
6
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. ( 28508967 )
2016
7
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. ( 26478726 )
2015
8
Modern diagnostic approach to hereditary xanthinuria. ( 25370766 )
2015
9
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria. ( 25967871 )
2015
10
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. ( 26110747 )
2015
11
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. ( 23249873 )
2013
12
Classical xanthinuria: a rare cause of pediatric urolithiasis. ( 26328123 )
2013
13
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. ( 22821105 )
2012
14
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. ( 21963464 )
2012
15
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. ( 23203137 )
2012
16
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. ( 22981351 )
2012
17
Xanthinuria in a domestic shorthair cat. ( 19151408 )
2009
18
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
19
Xanthinuria type I: a rare cause of urolithiasis. ( 17115198 )
2007
20
[Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. ( 15258855 )
2004
21
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. ( 14551354 )
2003
22
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. ( 14627688 )
2003
23
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. ( 12670960 )
2003
24
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. ( 14624414 )
2003
25
[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. ( 12406401 )
2002
26
Human xanthine dehydrogenase cDNA sequence and protein in an atypical case of type I xanthinuria in comparison with normal subjects. ( 11165212 )
2001
27
Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. ( 11302742 )
2001
28
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. ( 11379872 )
2001
29
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. ( 10844591 )
2000
30
Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria. ( 11783533 )
2000
31
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. ( 10365419 )
1999
32
A case of classical xanthinuria (type 1) with diabetes mellitus and Hashimoto's thyroiditis. ( 10481935 )
1999
33
Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria. ( 9598085 )
1998
34
Two siblings with classical xanthinuria type 1: significance of allopurinol loading test. ( 9510406 )
1998
35
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. ( 9153281 )
1997
36
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. ( 8976115 )
1996
37
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. ( 7660932 )
1994
38
Hereditary xanthinuria: report of two cases. ( 8104605 )
1993
39
A Chinese case of hereditary xanthinuria. ( 8295411 )
1993
40
Hereditary xanthinuria and Ehlers-Danlos syndrome. ( 1293384 )
1992
41
[The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria]. ( 1912172 )
1991
42
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. ( 1803043 )
1991
43
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. ( 2379312 )
1990
44
Asymptomatic hereditary xanthinuria: a case report. ( 2273608 )
1990
45
A new case with hereditary xanthinuria: response to exercise. ( 2736776 )
1989
46
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. ( 2754557 )
1989
47
Family study of hereditary xanthinuria--decreased duodenal xanthine oxidase activity and increased urinary excretion of xanthine and hypoxanthine in heterozygotes. ( 2624237 )
1989
48
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
49
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. ( 3818951 )
1987
50
Effect of fructose infusion in hereditary xanthinuria. ( 3728145 )
1986

Variations for Xanthinuria

ClinVar genetic disease variations for Xanthinuria:

6
(show top 50) (show all 150)
# Gene Variation Type Significance SNP ID Assembly Location
1 XDH NM_000379.3(XDH): c.3276+12A> G single nucleotide variant Benign rs1366813 GRCh37 Chromosome 2, 31570376: 31570376
2 XDH NM_000379.3(XDH): c.3276+12A> G single nucleotide variant Benign rs1366813 GRCh38 Chromosome 2, 31347510: 31347510
3 XDH NM_000379.3(XDH): c.3717G> A (p.Glu1239=) single nucleotide variant Likely benign rs207440 GRCh37 Chromosome 2, 31562412: 31562412
4 XDH NM_000379.3(XDH): c.3717G> A (p.Glu1239=) single nucleotide variant Likely benign rs207440 GRCh38 Chromosome 2, 31339546: 31339546
5 XDH NM_000379.3(XDH): c.3052-12C> G single nucleotide variant Benign rs13415401 GRCh38 Chromosome 2, 31348375: 31348375
6 XDH NM_000379.3(XDH): c.3052-12C> G single nucleotide variant Benign rs13415401 GRCh37 Chromosome 2, 31571241: 31571241
7 XDH NM_000379.3(XDH): c.3030T> C (p.Phe1010=) single nucleotide variant Benign rs1884725 GRCh38 Chromosome 2, 31348920: 31348920
8 XDH NM_000379.3(XDH): c.3030T> C (p.Phe1010=) single nucleotide variant Benign rs1884725 GRCh37 Chromosome 2, 31571786: 31571786
9 XDH NM_000379.3(XDH): c.2211C> T (p.Ile737=) single nucleotide variant Benign rs2295475 GRCh37 Chromosome 2, 31589847: 31589847
10 XDH NM_000379.3(XDH): c.2211C> T (p.Ile737=) single nucleotide variant Benign rs2295475 GRCh38 Chromosome 2, 31366981: 31366981
11 XDH NM_000379.3(XDH): c.2107A> G (p.Ile703Val) single nucleotide variant Likely benign rs17011368 GRCh37 Chromosome 2, 31590917: 31590917
12 XDH NM_000379.3(XDH): c.2107A> G (p.Ile703Val) single nucleotide variant Likely benign rs17011368 GRCh38 Chromosome 2, 31368051: 31368051
13 XDH NM_000379.3(XDH): c.*1516C> T single nucleotide variant Benign rs1054889 GRCh38 Chromosome 2, 31334442: 31334442
14 XDH NM_000379.3(XDH): c.*1516C> T single nucleotide variant Benign rs1054889 GRCh37 Chromosome 2, 31557308: 31557308
15 XDH NM_000379.3(XDH): c.*1494A> G single nucleotide variant Uncertain significance rs371568987 GRCh38 Chromosome 2, 31334464: 31334464
16 XDH NM_000379.3(XDH): c.*1494A> G single nucleotide variant Uncertain significance rs371568987 GRCh37 Chromosome 2, 31557330: 31557330
17 XDH NM_000379.3(XDH): c.*1081A> G single nucleotide variant Likely benign rs45488100 GRCh37 Chromosome 2, 31557743: 31557743
18 XDH NM_000379.3(XDH): c.*1081A> G single nucleotide variant Likely benign rs45488100 GRCh38 Chromosome 2, 31334877: 31334877
19 XDH NM_000379.3(XDH): c.*881G> A single nucleotide variant Uncertain significance rs544639351 GRCh37 Chromosome 2, 31557943: 31557943
20 XDH NM_000379.3(XDH): c.*881G> A single nucleotide variant Uncertain significance rs544639351 GRCh38 Chromosome 2, 31335077: 31335077
21 XDH NM_000379.3(XDH): c.*878T> C single nucleotide variant Likely benign rs45532535 GRCh37 Chromosome 2, 31557946: 31557946
22 XDH NM_000379.3(XDH): c.*878T> C single nucleotide variant Likely benign rs45532535 GRCh38 Chromosome 2, 31335080: 31335080
23 XDH NM_000379.3(XDH): c.3847C> T (p.Arg1283Ter) single nucleotide variant Uncertain significance rs751921838 GRCh37 Chromosome 2, 31560611: 31560611
24 XDH NM_000379.3(XDH): c.3847C> T (p.Arg1283Ter) single nucleotide variant Uncertain significance rs751921838 GRCh38 Chromosome 2, 31337745: 31337745
25 XDH NM_000379.3(XDH): c.3647C> A (p.Pro1216His) single nucleotide variant Uncertain significance rs143981573 GRCh37 Chromosome 2, 31562482: 31562482
26 XDH NM_000379.3(XDH): c.3647C> A (p.Pro1216His) single nucleotide variant Uncertain significance rs143981573 GRCh38 Chromosome 2, 31339616: 31339616
27 XDH NM_000379.3(XDH): c.3271G> C (p.Val1091Leu) single nucleotide variant Uncertain significance rs45619033 GRCh38 Chromosome 2, 31347527: 31347527
28 XDH NM_000379.3(XDH): c.3271G> C (p.Val1091Leu) single nucleotide variant Uncertain significance rs45619033 GRCh37 Chromosome 2, 31570393: 31570393
29 XDH NM_000379.3(XDH): c.3059C> T (p.Ala1020Val) single nucleotide variant Uncertain significance rs536923494 GRCh38 Chromosome 2, 31348356: 31348356
30 XDH NM_000379.3(XDH): c.3059C> T (p.Ala1020Val) single nucleotide variant Uncertain significance rs536923494 GRCh37 Chromosome 2, 31571222: 31571222
31 XDH NM_000379.3(XDH): c.2634T> C (p.Ile878=) single nucleotide variant Uncertain significance rs146994573 GRCh38 Chromosome 2, 31350221: 31350221
32 XDH NM_000379.3(XDH): c.2634T> C (p.Ile878=) single nucleotide variant Uncertain significance rs146994573 GRCh37 Chromosome 2, 31573087: 31573087
33 XDH NM_000379.3(XDH): c.2488C> T (p.Arg830Cys) single nucleotide variant Uncertain significance rs781137664 GRCh38 Chromosome 2, 31365513: 31365513
34 XDH NM_000379.3(XDH): c.2488C> T (p.Arg830Cys) single nucleotide variant Uncertain significance rs781137664 GRCh37 Chromosome 2, 31588379: 31588379
35 XDH NM_000379.3(XDH): c.1936A> G (p.Ile646Val) single nucleotide variant Likely benign rs17323225 GRCh38 Chromosome 2, 31370399: 31370399
36 XDH NM_000379.3(XDH): c.1936A> G (p.Ile646Val) single nucleotide variant Likely benign rs17323225 GRCh37 Chromosome 2, 31593265: 31593265
37 XDH NM_000379.3(XDH): c.1857-4G> A single nucleotide variant Uncertain significance rs17395175 GRCh38 Chromosome 2, 31370482: 31370482
38 XDH NM_000379.3(XDH): c.1857-4G> A single nucleotide variant Uncertain significance rs17395175 GRCh37 Chromosome 2, 31593348: 31593348
39 XDH NM_000379.3(XDH): c.1686+8C> T single nucleotide variant Likely benign rs17395224 GRCh38 Chromosome 2, 31373865: 31373865
40 XDH NM_000379.3(XDH): c.1686+8C> T single nucleotide variant Likely benign rs17395224 GRCh37 Chromosome 2, 31596731: 31596731
41 XDH NM_000379.3(XDH): c.1629C> T (p.Phe543=) single nucleotide variant Uncertain significance rs140651875 GRCh37 Chromosome 2, 31596796: 31596796
42 XDH NM_000379.3(XDH): c.1629C> T (p.Phe543=) single nucleotide variant Uncertain significance rs140651875 GRCh38 Chromosome 2, 31373930: 31373930
43 XDH NM_000379.3(XDH): c.1243-7C> G single nucleotide variant Uncertain significance rs200362582 GRCh37 Chromosome 2, 31600110: 31600110
44 XDH NM_000379.3(XDH): c.1243-7C> G single nucleotide variant Uncertain significance rs200362582 GRCh38 Chromosome 2, 31377244: 31377244
45 XDH NM_000379.3(XDH): c.1134C> T (p.Gly378=) single nucleotide variant Benign/Likely benign rs45612738 GRCh37 Chromosome 2, 31602841: 31602841
46 XDH NM_000379.3(XDH): c.1134C> T (p.Gly378=) single nucleotide variant Benign/Likely benign rs45612738 GRCh38 Chromosome 2, 31379975: 31379975
47 XDH NM_000379.3(XDH): c.837C> T (p.Val279=) single nucleotide variant Likely benign rs4407290 GRCh37 Chromosome 2, 31606670: 31606670
48 XDH NM_000379.3(XDH): c.837C> T (p.Val279=) single nucleotide variant Likely benign rs4407290 GRCh38 Chromosome 2, 31383804: 31383804
49 XDH NM_000379.3(XDH): c.*1407C> T single nucleotide variant Uncertain significance rs886055942 GRCh38 Chromosome 2, 31334551: 31334551
50 XDH NM_000379.3(XDH): c.*1407C> T single nucleotide variant Uncertain significance rs886055942 GRCh37 Chromosome 2, 31557417: 31557417

Expression for Xanthinuria

Search GEO for disease gene expression data for Xanthinuria.

Pathways for Xanthinuria

Pathways related to Xanthinuria according to KEGG:

37
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Sulfur relay system hsa04122

Pathways related to Xanthinuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ADSL ALDOB AOX1 APRT DPYS HPRT1
2
Show member pathways
12.43 AOX1 DPYS HPRT1 XDH
3
Show member pathways
12.12 ADSL APRT DPYS HPRT1 XDH
4
Show member pathways
11.36 ADSL APRT DPYS HPRT1 XDH
5 10.68 ADSL HPRT1
6 10.56 AOX1 HPRT1 XDH
7 10.4 SLC22A12 SLC2A9
8 10.16 AOX1 XDH

GO Terms for Xanthinuria

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.36 ADSL ALDOB AOX1 APRT CLINT1 DPYS

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleoside metabolic process GO:0009116 9.51 APRT HPRT1
2 purine nucleotide biosynthetic process GO:0006164 9.49 ADSL HPRT1
3 grooming behavior GO:0007625 9.48 APRT HPRT1
4 purine-containing compound salvage GO:0043101 9.46 APRT HPRT1
5 urate transport GO:0015747 9.43 SLC22A12 SLC2A9
6 urate metabolic process GO:0046415 9.4 SLC22A12 SLC2A9
7 molybdopterin cofactor biosynthetic process GO:0032324 9.37 MOCOS NFS1
8 Mo-molybdopterin cofactor biosynthetic process GO:0006777 9.32 MOCOS NFS1
9 purine ribonucleoside salvage GO:0006166 9.26 APRT HPRT1
10 adenine salvage GO:0006168 9.16 APRT HPRT1
11 xanthine catabolic process GO:0009115 8.96 AOX1 XDH
12 adenine metabolic process GO:0046083 8.62 APRT HPRT1

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

# Name GO ID Score Top Affiliating Genes
1 iron-sulfur cluster binding GO:0051536 9.5 AOX1 NFS1 XDH
2 2 iron, 2 sulfur cluster binding GO:0051537 9.43 AOX1 XDH
3 urate transmembrane transporter activity GO:0015143 9.4 SLC22A12 SLC2A9
4 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.37 AOX1 XDH
5 molybdenum ion binding GO:0030151 9.26 MOCOS SUOX
6 xanthine dehydrogenase activity GO:0004854 9.16 AOX1 XDH
7 oxidoreductase activity, acting on the aldehyde or oxo group of donors GO:0016903 8.96 AOX1 XDH
8 molybdopterin cofactor binding GO:0043546 8.8 AOX1 SUOX XDH

Sources for Xanthinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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