MCID: XNT004
MIFTS: 41

Xanthinuria

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

Aliases & Classifications for Xanthinuria

MalaCards integrated aliases for Xanthinuria:

Name: Xanthinuria 12 74 36 54 6 15 71
Xanthinuria, Type I 43 71
Xanthine Dehydrogenase Deficiency 12
Xanthine Oxidase Deficiency 12
Xanthinuria, Type Ii 43

Classifications:



External Ids:

Disease Ontology 12 DOID:0060236
KEGG 36 H00192
SNOMED-CT 67 72682008
UMLS 71 C0220988 C0268118 C1863688

Summaries for Xanthinuria

KEGG : 36 Xanthinuria is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Hereditary xanthinuria is classified into three categories. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2). Patients with XAN1 lack only xanthine dehydrogenase/xanthine oxidase (XDH/XO) activity, while patients with type II lack both XDH/XO and aldehyde oxidase activities. It has been suggested that the mutation in the molybdenum cofactor sulfurase gene is responsible for XAN2.

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 liver, thyroid and skeletal muscle, and related phenotype is renal/urinary system.

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.

Wikipedia : 74 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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 xanthinuria, type ii 34.5 XDH MOCOS AOX1
2 xanthinuria, type i 34.4 XDH SUOX AOX1
3 hereditary xanthinuria 34.0 XDH SUOX APRT AOX1
4 gout 30.3 XDH SLC22A12 APRT
5 lesch-nyhan syndrome 30.1 XDH SLC22A12 APRT
6 molybdenum cofactor deficiency 30.0 XDH SUOX MOCS1 MOCOS AOX1
7 molybdenum cofactor deficiency, complementation group a 29.4 XDH SUOX MOCS1 MOCOS APRT
8 nephrocalcinosis 29.0 XDH HOGA1 GRHPR
9 adenine phosphoribosyltransferase deficiency 28.3 XDH SLC7A9 HOGA1 GRHPR APRT
10 nephrolithiasis, calcium oxalate 27.8 XDH SLC7A9 SLC22A12 PRODH HOGA1 GRHPR
11 autosomal recessive disease 10.4
12 disorder of purine metabolism 10.3
13 primary amebic meningoencephalitis 10.3 XDH AOX1
14 hypouricemia, renal, 1 10.2
15 hemochromatosis, type 1 10.2
16 acute cystitis 10.2
17 hyperuricemia 10.2
18 liver disease 10.2
19 peptic ulcer disease 10.2
20 myocardial stunning 10.1
21 hyperlysinemia, type i 10.1 SUOX PRODH
22 burkitt lymphoma 10.0
23 pheochromocytoma 10.0
24 urate oxidase, pseudogene 10.0
25 autism 10.0
26 orotic aciduria 10.0
27 sulfite oxidase deficiency, isolated 10.0
28 beta-thalassemia 10.0
29 adrenal gland pheochromocytoma 10.0
30 thalassemia 10.0
31 pyelonephritis 10.0
32 pancytopenia 10.0
33 ehlers-danlos syndrome 10.0
34 renal tubular acidosis 10.0
35 pyuria 10.0
36 duodenal ulcer 10.0
37 cerebral palsy 10.0
38 acute kidney failure 10.0
39 myopathy 10.0
40 pustulosis of palm and sole 10.0
41 urinary tract obstruction 10.0
42 congestive heart failure 10.0
43 juvenile rheumatoid arthritis 10.0
44 thyroiditis 10.0
45 arthritis 10.0
46 vasculitis 10.0
47 psoriasis 10.0
48 diabetes mellitus 10.0
49 dihydroxyadeninuria 10.0
50 lymphocytic leukemia 10.0

Graphical network of the top 20 diseases related to Xanthinuria:



Diseases related to Xanthinuria

Symptoms & Phenotypes for Xanthinuria

MGI Mouse Phenotypes related to Xanthinuria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 APRT GRHPR HOGA1 SLC22A12 SLC7A9 XDH

Drugs & Therapeutics for Xanthinuria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stone Disease in Children and Their Families Available NCT00765531

Search NIH Clinical Center for Xanthinuria

Cochrane evidence based reviews: xanthinuria, type i

Genetic Tests for Xanthinuria

Anatomical Context for Xanthinuria

MalaCards organs/tissues related to Xanthinuria:

40
Liver, Thyroid, Skeletal Muscle, Testes, Heart, Kidney, Adrenal Gland

Publications for Xanthinuria

Articles related to Xanthinuria:

(show top 50) (show all 202)
# Title Authors PMID Year
1
Xanthine urolithiasis in a cat: a case report and evaluation of a candidate gene for xanthine dehydrogenase. 54 61
17576085 2007
2
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. 54 61
14551354 2003
3
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. 54 61
12670960 2003
4
The housekeeping gene xanthine oxidoreductase is necessary for milk fat droplet enveloping and secretion: gene sharing in the lactating mammary gland. 54 61
12502743 2002
5
[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. 54 61
12406401 2002
6
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. 54 61
10844591 2000
7
Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria. 54 61
11783533 2000
8
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. 54 61
10365419 1999
9
Two siblings with classical xanthinuria type 1: significance of allopurinol loading test. 54 61
9510406 1998
10
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. 54 61
8976115 1996
11
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. 54 61
8581129 1995
12
The human gene for xanthine dehydrogenase (XDH) is localized on chromosome band 2q22. 54 61
7956361 1995
13
Assignment of human xanthine dehydrogenase gene to chromosome 2p22. 54 61
7829092 1994
14
In vitro oxidation of pyrazinamide and allopurinol by rat liver aldehyde oxidase. 54 61
8216357 1993
15
[A new method for the determination of xanthine oxidase activity by high-performance liquid chromatography with electrochemical detection]. 54 61
1307615 1992
16
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. 54 61
1803043 1991
17
[The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria]. 54 61
1912172 1991
18
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. 54 61
2379312 1990
19
Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol. 54 61
2323062 1990
20
Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. 61
31914939 2020
21
XANTHINE NEPHROLITHIASIS IN JUVENILE CAPTIVE GIANT OTTERS (PTERONURA BRASILIENSIS). 61
31926528 2020
22
Targeted renal knockdown of Na+/H+ exchanger regulatory factor Sip1 produces uric acid nephrolithiasis in Drosophila. 61
31364377 2019
23
Epidemiology of feline urolithiasis in Mexico (2006-2017). 61
31803489 2019
24
Adaptable Xerogel-Layered Amperometric Biosensor Platforms on Wire Electrodes for Clinically Relevant Measurements. 61
31174353 2019
25
Hereditary xanthinuria in a goat. 61
30758870 2019
26
[Genetic and biochemical features of the monogenic hereditary urolithiasis]. 61
30135278 2018
27
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). 61
29935280 2018
28
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. 61
29916968 2018
29
Xanthine urolithiasis: Inhibitors of xanthine crystallization. 61
30157195 2018
30
Hereditary xanthinuria is not so rare disorder of purine metabolism. 61
29723117 2018
31
Randomized, allopurinol-controlled trial of the effects of dietary nucleotides and active hexose correlated compound in the treatment of canine leishmaniosis. 61
28495197 2017
32
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. 61
27919260 2016
33
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. 61
28508967 2016
34
Adverse urinary effects of allopurinol in dogs with leishmaniasis. 61
27112522 2016
35
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation]. 61
27078247 2016
36
[Type 1 xanthinuria: Report on three cases]. 61
26521682 2015
37
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. 61
26478726 2015
38
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health. 61
26283345 2015
39
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. 61
26110747 2015
40
Modern diagnostic approach to hereditary xanthinuria. 61
25370766 2015
41
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria. 61
25967871 2015
42
Uric acid accumulation in an Arabidopsis urate oxidase mutant impairs seedling establishment by blocking peroxisome maintenance. 61
25052714 2014
43
Biosensing methods for xanthine determination: a review. 61
24629268 2014
44
Purine disorders with hypouricemia. 61
24798598 2014
45
Classical xanthinuria: a rare cause of pediatric urolithiasis. 61
26328123 2013
46
Xanthine urolithiasis causing bilateral ureteral obstruction in a 10-month-old cat. 61
23413269 2013
47
Urine concentrations of xanthine, hypoxanthine and uric acid in UK Cavalier King Charles spaniels. 61
23859747 2013
48
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. 61
23249873 2013
49
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. 61
22981351 2012
50
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. 61
23203137 2012

Variations for Xanthinuria

ClinVar genetic disease variations for Xanthinuria:

6 (show top 50) (show all 73) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XDH NM_000379.4(XDH):c.3271G>C (p.Val1091Leu)SNV Conflicting interpretations of pathogenicity 335762 rs45619033 2:31570393-31570393 2:31347527-31347527
2 XDH NM_000379.4(XDH):c.2634T>C (p.Ile878=)SNV Conflicting interpretations of pathogenicity 335770 rs146994573 2:31573087-31573087 2:31350221-31350221
3 XDH NM_000379.4(XDH):c.1857-4G>ASNV Conflicting interpretations of pathogenicity 335779 rs17395175 2:31593348-31593348 2:31370482-31370482
4 XDH NM_000379.4(XDH):c.1629C>T (p.Phe543=)SNV Conflicting interpretations of pathogenicity 335786 rs140651875 2:31596796-31596796 2:31373930-31373930
5 XDH NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu)SNV Conflicting interpretations of pathogenicity 335755 rs141335716 2:31560521-31560521 2:31337655-31337655
6 XDH NM_000379.4(XDH):c.1990G>A (p.Val664Ile)SNV Conflicting interpretations of pathogenicity 335776 rs201301387 2:31591517-31591517 2:31368651-31368651
7 XDH NM_000379.4(XDH):c.606G>A (p.Thr202=)SNV Conflicting interpretations of pathogenicity 335797 rs752308380 2:31610722-31610722 2:31387856-31387856
8 XDH NM_000379.4(XDH):c.405C>T (p.Thr135=)SNV Conflicting interpretations of pathogenicity 335800 rs72549370 2:31621467-31621467 2:31398601-31398601
9 XDH NM_000379.4(XDH):c.3930C>T (p.Cys1310=)SNV Conflicting interpretations of pathogenicity 335756 rs138936101 2:31560528-31560528 2:31337662-31337662
10 XDH NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg)SNV Conflicting interpretations of pathogenicity 335757 rs73922346 2:31560583-31560583 2:31337717-31337717
11 XDH NM_000379.4(XDH):c.3052-4C>TSNV Conflicting interpretations of pathogenicity 335767 rs370085305 2:31571233-31571233 2:31348367-31348367
12 XDH NM_000379.4(XDH):c.1856+7G>ASNV Conflicting interpretations of pathogenicity 335780 rs184028774 2:31595087-31595087 2:31372221-31372221
13 XDH NM_000379.4(XDH):c.1751A>C (p.Asp584Ala)SNV Conflicting interpretations of pathogenicity 335782 rs45491693 2:31595199-31595199 2:31372333-31372333
14 XDH NM_000379.4(XDH):c.1274C>G (p.Ser425Cys)SNV Conflicting interpretations of pathogenicity 335788 rs138649664 2:31600072-31600072 2:31377206-31377206
15 XDH NM_000379.4(XDH):c.825T>C (p.Phe275=)SNV Conflicting interpretations of pathogenicity 335794 rs145596057 2:31606682-31606682 2:31383816-31383816
16 XDH NM_000379.4(XDH):c.1687-8C>ASNV Uncertain significance 335784 rs370270278 2:31595271-31595271 2:31372405-31372405
17 XDH NM_000379.4(XDH):c.3277-13deldeletion Uncertain significance 335761 rs752820043 2:31569722-31569722 2:31346856-31346856
18 XDH NM_000379.4(XDH):c.3249C>T (p.Ser1083=)SNV Uncertain significance 335763 rs45562835 2:31570415-31570415 2:31347549-31347549
19 XDH NM_000379.4(XDH):c.2268C>T (p.Gly756=)SNV Uncertain significance 335773 rs886055946 2:31589790-31589790 2:31366924-31366924
20 XDH NM_000379.4(XDH):c.1901G>T (p.Cys634Phe)SNV Uncertain significance 335778 rs886055947 2:31593300-31593300 2:31370434-31370434
21 XDH NM_000379.4(XDH):c.*1452C>TSNV Uncertain significance 335738 rs886055941 2:31557372-31557372 2:31334506-31334506
22 XDH NM_000379.4(XDH):c.*938G>TSNV Uncertain significance 335743 rs193245354 2:31557886-31557886 2:31335020-31335020
23 XDH NM_000379.4(XDH):c.*912A>TSNV Uncertain significance 335744 rs45456093 2:31557912-31557912 2:31335046-31335046
24 XDH NM_000379.4(XDH):c.*1491A>GSNV Uncertain significance 335736 rs886055940 2:31557333-31557333 2:31334467-31334467
25 XDH NM_000379.4(XDH):c.*945C>ASNV Uncertain significance 335742 rs567451050 2:31557879-31557879 2:31335013-31335013
26 XDH NM_000379.4(XDH):c.*829G>ASNV Uncertain significance 335747 rs886055944 2:31557995-31557995 2:31335129-31335129
27 XDH NM_000379.4(XDH):c.*475A>CSNV Uncertain significance 335752 rs372973524 2:31558349-31558349 2:31335483-31335483
28 XDH NM_000379.4(XDH):c.2851G>A (p.Gly951Arg)SNV Uncertain significance 335769 rs142675390 2:31572670-31572670 2:31349804-31349804
29 XDH NM_000379.4(XDH):c.2592C>T (p.His864=)SNV Uncertain significance 335771 rs368056609 2:31587063-31587063 2:31364197-31364197
30 XDH NM_000379.4(XDH):c.2176G>C (p.Glu726Gln)SNV Uncertain significance 335775 rs61731083 2:31590848-31590848 2:31367982-31367982
31 XDH NM_000379.4(XDH):c.1749G>A (p.Ala583=)SNV Uncertain significance 335783 rs141831710 2:31595201-31595201 2:31372335-31372335
32 XDH NM_000379.4(XDH):c.530C>A (p.Pro177Gln)SNV Uncertain significance 335798 rs781730239 2:31611127-31611127 2:31388261-31388261
33 XDH NM_000379.4(XDH):c.1800C>T (p.Tyr600=)SNV Uncertain significance 335781 rs139964785 2:31595150-31595150 2:31372284-31372284
34 XDH NM_000379.4(XDH):c.1242+7T>CSNV Uncertain significance 335790 rs751688778 2:31602726-31602726 2:31379860-31379860
35 XDH NM_000379.4(XDH):c.617C>T (p.Pro206Leu)SNV Uncertain significance 335796 rs201332711 2:31610711-31610711 2:31387845-31387845
36 XDH NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile)SNV Uncertain significance 335759 rs148235835 2:31562464-31562464 2:31339598-31339598
37 XDH NM_000379.4(XDH):c.3148-4G>TSNV Uncertain significance 335764 rs545686434 2:31570520-31570520 2:31347654-31347654
38 XDH NM_000379.4(XDH):c.*699C>TSNV Uncertain significance 335750 rs542769393 2:31558125-31558125 2:31335259-31335259
39 XDH NM_000379.4(XDH):c.*404C>TSNV Uncertain significance 335753 rs759403236 2:31558420-31558420 2:31335554-31335554
40 XDH NM_000379.4(XDH):c.2911G>A (p.Glu971Lys)SNV Uncertain significance 335768 rs148921536 2:31572610-31572610 2:31349744-31349744
41 XDH NM_000379.4(XDH):c.2198-7T>ASNV Uncertain significance 335774 rs750072647 2:31589867-31589867 2:31367001-31367001
42 XDH NM_000379.4(XDH):c.1243-7C>GSNV Uncertain significance 335789 rs200362582 2:31600110-31600110 2:31377244-31377244
43 XDH NM_000379.4(XDH):c.*1407C>TSNV Uncertain significance 335739 rs886055942 2:31557417-31557417 2:31334551-31334551
44 XDH NM_000379.4(XDH):c.*1094A>CSNV Uncertain significance 335740 rs886055943 2:31557730-31557730 2:31334864-31334864
45 XDH NM_000379.4(XDH):c.*823A>GSNV Uncertain significance 335748 rs886055945 2:31558001-31558001 2:31335135-31335135
46 XDH NM_000379.4(XDH):c.3059C>T (p.Ala1020Val)SNV Uncertain significance 335766 rs536923494 2:31571222-31571222 2:31348356-31348356
47 XDH NM_000379.4(XDH):c.*881G>ASNV Uncertain significance 335745 rs544639351 2:31557943-31557943 2:31335077-31335077
48 XDH NM_000379.4(XDH):c.3647C>A (p.Pro1216His)SNV Uncertain significance 335760 rs143981573 2:31562482-31562482 2:31339616-31339616
49 XDH NM_000379.4(XDH):c.*1494A>GSNV Uncertain significance 335735 rs371568987 2:31557330-31557330 2:31334464-31334464
50 XDH NM_000379.4(XDH):c.*1081A>GSNV Likely benign 335741 rs45488100 2:31557743-31557743 2:31334877-31334877

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

GO Terms for Xanthinuria

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

# Name GO ID Score Top Affiliating Genes
1 brush border membrane GO:0031526 8.96 SLC7A9 SLC22A12
2 mitochondrial matrix GO:0005759 8.92 SUOX PRODH NFS1 HOGA1

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 XDH SUOX PRODH GRHPR AOX1
2 lactation GO:0007595 9.4 XDH APRT
3 glyoxylate metabolic process GO:0046487 9.32 HOGA1 GRHPR
4 4-hydroxyproline catabolic process GO:0019470 9.26 PRODH HOGA1
5 xanthine catabolic process GO:0009115 9.16 XDH AOX1
6 molybdopterin cofactor biosynthetic process GO:0032324 9.13 NFS1 MOCS1 MOCOS
7 Mo-molybdopterin cofactor biosynthetic process GO:0006777 8.8 NFS1 MOCS1 MOCOS

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 XDH NFS1 HOGA1 GRHPR AOX1
2 oxidoreductase activity GO:0016491 9.77 XDH SUOX PRODH GRHPR AOX1
3 lyase activity GO:0016829 9.63 MOCS1 MOCOS HOGA1
4 NAD binding GO:0051287 9.48 GRHPR AOX1
5 2 iron, 2 sulfur cluster binding GO:0051537 9.43 XDH AOX1
6 FAD binding GO:0071949 9.43 XDH PRODH AOX1
7 molybdenum ion binding GO:0030151 9.32 SUOX MOCOS
8 iron-sulfur cluster binding GO:0051536 9.26 XDH NFS1 MOCS1 AOX1
9 xanthine dehydrogenase activity GO:0004854 9.16 XDH AOX1
10 molybdopterin cofactor binding GO:0043546 8.8 XDH SUOX AOX1

Sources for Xanthinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....