MCID: XNT004
MIFTS: 39

Xanthinuria

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

Aliases & Classifications for Xanthinuria

MalaCards integrated aliases for Xanthinuria:

Name: Xanthinuria 12 72 36 28 51 14 69
Xanthinuria, Type I 41 69
Xanthine Dehydrogenase Deficiency 12
Xanthine Oxidase Deficiency 12
Xanthinuria, Type Ii 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0060236
SNOMED-CT 64 124147007 72682008
KEGG 36 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 phenotype is renal/urinary system.

Wikipedia : 72 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

MGI Mouse Phenotypes related to Xanthinuria:

43
# 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 28

Anatomical Context for Xanthinuria

MalaCards organs/tissues related to Xanthinuria:

38
Testes, Thyroid

Publications for Xanthinuria

Articles related to Xanthinuria:

(show all 50)
# Title Authors Year
1
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. ( 28508967 )
2016
2
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. ( 27919260 )
2016
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
Modern diagnostic approach to hereditary xanthinuria. ( 25370766 )
2015
6
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. ( 26110747 )
2015
7
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. ( 23249873 )
2013
8
Classical xanthinuria: a rare cause of pediatric urolithiasis. ( 26328123 )
2013
9
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. ( 23203137 )
2012
10
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. ( 22821105 )
2012
11
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. ( 22981351 )
2012
12
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. ( 21963464 )
2012
13
Xanthinuria in a domestic shorthair cat. ( 19151408 )
2009
14
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
15
Xanthinuria type I: a rare cause of urolithiasis. ( 17115198 )
2007
16
[Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. ( 15258855 )
2004
17
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. ( 14551354 )
2003
18
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. ( 12670960 )
2003
19
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. ( 14627688 )
2003
20
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. ( 14624414 )
2003
21
[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. ( 12406401 )
2002
22
Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. ( 11302742 )
2001
23
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. ( 11379872 )
2001
24
Human xanthine dehydrogenase cDNA sequence and protein in an atypical case of type I xanthinuria in comparison with normal subjects. ( 11165212 )
2001
25
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. ( 10844591 )
2000
26
Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria. ( 11783533 )
2000
27
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. ( 10365419 )
1999
28
A case of classical xanthinuria (type 1) with diabetes mellitus and Hashimoto's thyroiditis. ( 10481935 )
1999
29
Two siblings with classical xanthinuria type 1: significance of allopurinol loading test. ( 9510406 )
1998
30
Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria. ( 9598085 )
1998
31
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. ( 9153281 )
1997
32
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. ( 8976115 )
1996
33
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. ( 7660932 )
1994
34
Hereditary xanthinuria: report of two cases. ( 8104605 )
1993
35
A Chinese case of hereditary xanthinuria. ( 8295411 )
1993
36
Hereditary xanthinuria and Ehlers-Danlos syndrome. ( 1293384 )
1992
37
[The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria]. ( 1912172 )
1991
38
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. ( 1803043 )
1991
39
Asymptomatic hereditary xanthinuria: a case report. ( 2273608 )
1990
40
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. ( 2379312 )
1990
41
A new case with hereditary xanthinuria: response to exercise. ( 2736776 )
1989
42
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. ( 2754557 )
1989
43
Family study of hereditary xanthinuria--decreased duodenal xanthine oxidase activity and increased urinary excretion of xanthine and hypoxanthine in heterozygotes. ( 2624237 )
1989
44
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
45
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. ( 3818951 )
1987
46
Hereditary xanthinuria presenting in infancy with nephrolithiasis. ( 3755469 )
1986
47
Effect of fructose infusion in hereditary xanthinuria. ( 3728145 )
1986
48
Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria. ( 6423323 )
1984
49
Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome. ( 6651793 )
1983
50
Hereditary xanthinuria: report on three patients and short review of the literature. ( 927625 )
1977

Variations for Xanthinuria

ClinVar genetic disease variations for Xanthinuria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 XDH NM_000379.3(XDH): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs119460972 GRCh37 Chromosome 2, 31609391: 31609391
2 XDH XDH, 1-BP DEL, 2567C deletion Pathogenic
3 XDH NM_000379.3(XDH): c.445C> T (p.Arg149Cys) single nucleotide variant Pathogenic rs72549369 GRCh37 Chromosome 2, 31620584: 31620584
4 MOCOS NM_017947.3(MOCOS): c.1255C> T (p.Arg419Ter) single nucleotide variant Pathogenic rs142150953 GRCh38 Chromosome 18, 36213402: 36213402
5 MOCOS NM_017947.3(MOCOS): c.169G> C (p.Ala57Pro) single nucleotide variant Pathogenic rs886037854 GRCh38 Chromosome 18, 36195283: 36195283
6 MOCOS NM_017947.3(MOCOS): c.2326C> T (p.Arg776Cys) single nucleotide variant Pathogenic rs750896617 GRCh37 Chromosome 18, 33840055: 33840055
7 MOCOS NM_017947.3(MOCOS): c.1037dupA (p.Gln347Alafs) duplication Pathogenic rs886037855 GRCh38 Chromosome 18, 36205095: 36205095

Expression for Xanthinuria

Search GEO for disease gene expression data for Xanthinuria.

Pathways for Xanthinuria

Pathways related to Xanthinuria according to KEGG:

36
# 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
13.73 ADSL ALDOB AOX1 APRT DPYS HPRT1
2
Show member pathways
12.42 AOX1 DPYS HPRT1 XDH
3
Show member pathways
12.12 ADSL APRT DPYS HPRT1 XDH
4
Show member pathways
11.37 ADSL APRT DPYS HPRT1 XDH
5 10.65 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 13)
# Name GO ID Score Top Affiliating Genes
1 nucleoside metabolic process GO:0009116 9.52 APRT HPRT1
2 purine nucleotide biosynthetic process GO:0006164 9.51 ADSL HPRT1
3 purine-containing compound salvage GO:0043101 9.49 APRT HPRT1
4 grooming behavior GO:0007625 9.48 APRT HPRT1
5 urate transport GO:0015747 9.46 SLC22A12 SLC2A9
6 organic acid transmembrane transport GO:1903825 9.43 SLC22A12 SLC2A9
7 urate metabolic process GO:0046415 9.4 SLC22A12 SLC2A9
8 molybdopterin cofactor biosynthetic process GO:0032324 9.37 MOCOS NFS1
9 Mo-molybdopterin cofactor biosynthetic process GO:0006777 9.32 MOCOS NFS1
10 purine ribonucleoside salvage GO:0006166 9.26 APRT HPRT1
11 adenine metabolic process GO:0046083 9.16 APRT HPRT1
12 adenine salvage GO:0006168 8.96 APRT HPRT1
13 xanthine catabolic process GO:0009115 8.62 AOX1 XDH

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 9.43 AOX1 NFS1 XDH
2 2 iron, 2 sulfur cluster binding GO:0051537 9.4 AOX1 XDH
3 urate transmembrane transporter activity GO:0015143 9.37 SLC22A12 SLC2A9
4 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.32 AOX1 XDH
5 molybdenum ion binding GO:0030151 9.16 MOCOS SUOX
6 oxidoreductase activity, acting on the aldehyde or oxo group of donors GO:0016903 8.96 AOX1 XDH
7 molybdopterin cofactor binding GO:0043546 8.8 AOX1 SUOX XDH

Sources for Xanthinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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