MCID: XNT004
MIFTS: 35

Xanthinuria

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

Aliases & Classifications for Xanthinuria

MalaCards integrated aliases for Xanthinuria:

Name: Xanthinuria 12 29 52 14 69
Xanthinuria, Type I 42 69
Xanthine Dehydrogenase Deficiency 12
Xanthine Oxidase Deficiency 12
Xanthinuria, Type Ii 42

Classifications:



External Ids:

Disease Ontology 12 DOID:0060236
SNOMED-CT 64 124147007 72682008

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 i and xanthinuria, type ii. An important gene associated with Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Metabolism and Nucleotide Metabolism. 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

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 30)
id Related Disease Score Top Affiliating Genes
1 xanthinuria, type i 33.8 AOX1 APRT SUOX XDH
2 xanthinuria, type ii 12.4
3 hereditary xanthinuria 12.3
4 cowchock syndrome 10.4 APRT HPRT1
5 diarrhea 4, malabsorptive, congenital 10.4 HPRT1 XDH
6 optic atrophy 4 10.4 AOX1 MOCOS XDH
7 uv-sensitive syndrome 3 10.4 APRT XDH
8 ectodermal dysplasia 2, clouston type 10.4 SUOX XDH
9 monogenic diabetes 10.3 AOX1 SUOX XDH
10 congenital disorder of glycosylation, type iia 10.2 ADSL APRT HPRT1
11 isolated pierre robin sequence 10.2 AOX1 APRT SUOX XDH
12 spinocerebellar ataxia 5 10.0 HPRT1 SLC22A12 SLC2A9
13 medullary cystic kidney disease 2 10.0 HPRT1 SLC22A12
14 combined oxidative phosphorylation deficiency 6 10.0 ADSL APRT HPRT1 XDH
15 molybdenum cofactor deficiency 9.9
16 lesch-nyhan syndrome 9.9
17 dihydropyrimidine dehydrogenase deficiency 9.8 ADSL DPYS
18 gaucher's disease 9.8 HPRT1 SLC22A12 SLC2A9 XDH
19 nephrolithiasis 9.7
20 renal tubular acidosis 9.7
21 thalassemia 9.7
22 nephrocalcinosis 9.7
23 ehlers-danlos syndrome 9.7
24 thyroiditis 9.7
25 duodenitis 9.7
26 hyperammonemia due to carbonic anhydrase va deficiency 9.6 APRT CLDN16 DPYS HPRT1 XDH
27 neutropenia 9.6 APRT CLDN16 SLC22A12 SLC2A9
28 overnutrition 9.6 ADSL AOX1 APRT HPRT1 MOCOS XDH
29 lingual goiter 9.2 ADSL APRT HPRT1 SLC22A12 SLC2A9 XDH
30 van maldergem syndrome 4.9 ADSL ALDOB AOX1 APRT CLDN16 CLINT1

Graphical network of the top 20 diseases related to Xanthinuria:



Diseases related to Xanthinuria

Symptoms & Phenotypes for Xanthinuria

MGI Mouse Phenotypes related to Xanthinuria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 SLC2A9 XDH APRT CLDN16 HPRT1 SLC22A12

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:

id Genetic test Affiliating Genes
1 Xanthinuria 29

Anatomical Context for Xanthinuria

MalaCards organs/tissues related to Xanthinuria:

39
Testes, Thyroid

Publications for Xanthinuria

Articles related to Xanthinuria:

(show all 50)
id 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
Modern diagnostic approach to hereditary xanthinuria. ( 25370766 )
2015
4
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. ( 26478726 )
2015
5
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria. ( 25967871 )
2015
6
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. ( 26110747 )
2015
7
Classical xanthinuria: a rare cause of pediatric urolithiasis. ( 26328123 )
2013
8
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. ( 23249873 )
2013
9
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. ( 22981351 )
2012
10
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. ( 23203137 )
2012
11
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. ( 22821105 )
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
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. ( 14624414 )
2003
20
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. ( 14627688 )
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
A Chinese case of hereditary xanthinuria. ( 8295411 )
1993
35
Hereditary xanthinuria: report of two cases. ( 8104605 )
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
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. ( 2754557 )
1989
42
A new case with hereditary xanthinuria: response to exercise. ( 2736776 )
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
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 ADSL ALDOB AOX1 APRT DPYS HPRT1
2 10.54 ADSL HPRT1
3 10.23 SLC22A12 SLC2A9
4 10.23 AOX1 HPRT1 XDH
5 9.86 AOX1 XDH

GO Terms for Xanthinuria

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

id 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)
id 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 organic acid transmembrane transport GO:1903825 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 metabolic process GO:0046083 9.16 APRT HPRT1
11 adenine salvage GO:0006168 8.96 APRT HPRT1
12 xanthine catabolic process GO:0009115 8.62 AOX1 XDH

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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