MCID: XNT004
MIFTS: 37

Xanthinuria malady

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

Aliases & Classifications for Xanthinuria

Aliases & Descriptions 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 hereditary xanthinuria. An important gene associated with Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Metabolism and Purine metabolism (KEGG). Affiliated tissues include testes and thyroid, and related phenotype is renal/urinary system.

Wikipedia : 71 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 12.4
2 hereditary xanthinuria 12.3
3 xanthinuria, type ii 12.3
4 fleck retina of kandori 10.2 AOX1 MOCOS XDH
5 bart-pumphrey syndrome 10.2 SUOX XDH
6 dent disease 2 10.2 APRT HPRT1
7 morse-rawnsley-sargent syndrome 10.1 AOX1 SUOX XDH
8 lattice corneal dystrophy type ii 10.1 AOX1 APRT SUOX XDH
9 multifocal dystonia 10.1 ADSL DPYS
10 persistent hyperplastic primary vitreous, autosomal recessive 10.0 HPRT1 SLC22A12 XDH
11 noonan syndrome 9 10.0 APRT HPRT1
12 spinocerebellar ataxia 5 10.0 HPRT1 SLC22A12 SLC2A9
13 combined oxidative phosphorylation deficiency 6 10.0 ADSL APRT HPRT1 XDH
14 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.0 HPRT1 SLC22A12 UMOD
15 meier-gorlin syndrome 4 9.9 APRT CLDN16 DPYS HPRT1 XDH
16 posterior foramen magnum meningioma 9.9 ADSL AOX1 APRT HPRT1 MOCOS XDH
17 lesch-nyhan syndrome 9.9
18 molybdenum cofactor deficiency 9.9
19 hypogonadism 9.9 HPRT1 SLC22A12 SLC2A9 UMOD XDH
20 newborn respiratory distress syndrome 9.8 AGXT APRT CLDN16 HPRT1 UMOD XDH
21 mitochondrial dna depletion syndrome 6 9.8 AGXT AOX1 APRT GGCX MOCOS SUOX
22 nephrolithiasis 9.7
23 renal tubular acidosis 9.7
24 thalassemia 9.7
25 nephrocalcinosis 9.7
26 ehlers-danlos syndrome 9.7
27 thyroiditis 9.7
28 duodenitis 9.7
29 lingual goiter 9.6 ADSL APRT HPRT1 SLC22A12 SLC2A9 UMOD
30 uv-sensitive syndrome 7.8 ADSL AGXT ALDOB AOX1 APRT CLDN16

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 9.23 UMOD XDH AGXT APRT CLDN16 HPRT1

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 49)
id Title Authors Year
1
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. ( 27919260 )
2016
2
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. ( 26110747 )
2015
3
Modern diagnostic approach to hereditary xanthinuria. ( 25370766 )
2015
4
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria. ( 25967871 )
2015
5
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. ( 26478726 )
2015
6
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. ( 23249873 )
2013
7
Classical xanthinuria: a rare cause of pediatric urolithiasis. ( 26328123 )
2013
8
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. ( 23203137 )
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
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. ( 22981351 )
2012
12
Xanthinuria in a domestic shorthair cat. ( 19151408 )
2009
13
Xanthinuria type I: a rare cause of urolithiasis. ( 17115198 )
2007
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 with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. ( 15258855 )
2004
16
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. ( 14627688 )
2003
17
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. ( 14551354 )
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
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. ( 12670960 )
2003
20
[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. ( 12406401 )
2002
21
Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. ( 11302742 )
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
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. ( 11379872 )
2001
24
Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria. ( 11783533 )
2000
25
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. ( 10844591 )
2000
26
A case of classical xanthinuria (type 1) with diabetes mellitus and Hashimoto's thyroiditis. ( 10481935 )
1999
27
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. ( 10365419 )
1999
28
Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria. ( 9598085 )
1998
29
Two siblings with classical xanthinuria type 1: significance of allopurinol loading test. ( 9510406 )
1998
30
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. ( 9153281 )
1997
31
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. ( 8976115 )
1996
32
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. ( 7660932 )
1994
33
A Chinese case of hereditary xanthinuria. ( 8295411 )
1993
34
Hereditary xanthinuria: report of two cases. ( 8104605 )
1993
35
Hereditary xanthinuria and Ehlers-Danlos syndrome. ( 1293384 )
1992
36
[The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria]. ( 1912172 )
1991
37
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. ( 1803043 )
1991
38
Asymptomatic hereditary xanthinuria: a case report. ( 2273608 )
1990
39
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. ( 2379312 )
1990
40
Family study of hereditary xanthinuria--decreased duodenal xanthine oxidase activity and increased urinary excretion of xanthine and hypoxanthine in heterozygotes. ( 2624237 )
1989
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
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
44
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. ( 3818951 )
1987
45
Effect of fructose infusion in hereditary xanthinuria. ( 3728145 )
1986
46
Hereditary xanthinuria presenting in infancy with nephrolithiasis. ( 3755469 )
1986
47
Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria. ( 6423323 )
1984
48
Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome. ( 6651793 )
1983
49
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

GO Terms for Xanthinuria

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 xanthine catabolic process GO:0009115 9.16 AOX1 XDH
11 adenine metabolic process GO:0046083 8.96 APRT HPRT1
12 adenine salvage GO:0006168 8.62 APRT HPRT1

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.67 ADSL ALDOB GGCX
2 iron-sulfur cluster binding GO:0051536 9.54 AOX1 NFS1 XDH
3 pyridoxal phosphate binding GO:0030170 9.5 AGXT MOCOS NFS1
4 2 iron, 2 sulfur cluster binding GO:0051537 9.48 AOX1 XDH
5 amino acid binding GO:0016597 9.46 AGXT DPYS
6 urate transmembrane transporter activity GO:0015143 9.43 SLC22A12 SLC2A9
7 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.4 AOX1 XDH
8 molybdenum ion binding GO:0030151 9.26 MOCOS SUOX
9 xanthine dehydrogenase activity GO:0004854 9.16 AOX1 XDH
10 oxidoreductase activity, acting on the aldehyde or oxo group of donors GO:0016903 8.96 AOX1 XDH
11 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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