MCID: XNT004
MIFTS: 39

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 124147007
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 skeletal muscle, testes and liver, and related phenotypes are homeostasis/metabolism and 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 66)
# Related Disease Score Top Affiliating Genes
1 xanthinuria, type ii 34.6 XDH MOCOS AOX1
2 xanthinuria, type i 34.5 XDH SUOX AOX1
3 hereditary xanthinuria 34.2 XDH SUOX APRT AOX1
4 molybdenum cofactor deficiency 30.8 XDH SUOX AOX1
5 sulfite oxidase deficiency, isolated 30.3 SUOX AOX1
6 disorder of purine metabolism 30.3 HPRT1 APRT
7 molybdenum cofactor deficiency, complementation group a 30.0 XDH SUOX MOCOS APRT
8 nephrolithiasis, calcium oxalate 29.9 GRHPR APRT
9 nephrocalcinosis 29.7 XDH HOGA1 GRHPR
10 urolithiasis 29.7 XDH SLC7A9 HPRT1 HOGA1 APRT
11 hypouricemia, renal, 1 29.6 SLC2A9 SLC22A12 HPRT1
12 gout 29.2 XDH SLC2A9 SLC22A12 HPRT1 APRT
13 hyperuricemia 29.2 XDH SLC2A9 SLC22A12 HPRT1
14 lesch-nyhan syndrome 28.9 XDH SLC2A9 SLC22A12 HPRT1 APRT
15 adenine phosphoribosyltransferase deficiency 28.7 XDH HPRT1 HOGA1 GRHPR APRT
16 nephrolithiasis 27.5 XDH SLC7A9 SLC2A9 SLC22A12 PRODH HPRT1
17 autosomal recessive disease 10.4
18 molybdenum cofactor deficiency, complementation group c 10.3 SUOX AOX1
19 hyperlysinemia, type i 10.2 SUOX PRODH
20 alzheimer disease 17 10.2 XDH SLC22A12
21 hemochromatosis, type 1 10.2
22 juvenile arthritis 10.2
23 acute cystitis 10.2
24 liver disease 10.2
25 juvenile rheumatoid arthritis 10.2
26 peptic ulcer disease 10.2
27 myocardial stunning 10.1
28 urethral calculus 10.1 HOGA1 GRHPR
29 burkitt lymphoma 10.0
30 pheochromocytoma 10.0
31 urate oxidase, pseudogene 10.0
32 autism 10.0
33 orotic aciduria 10.0
34 beta-thalassemia 10.0
35 adrenal gland pheochromocytoma 10.0
36 thalassemia 10.0
37 pyelonephritis 10.0
38 pancytopenia 10.0
39 ehlers-danlos syndrome 10.0
40 renal tubular acidosis 10.0
41 pyuria 10.0
42 duodenal ulcer 10.0
43 cerebral palsy 10.0
44 acute kidney failure 10.0
45 myopathy 10.0
46 pustulosis of palm and sole 10.0
47 urinary tract obstruction 10.0
48 congestive heart failure 10.0
49 thyroiditis 10.0
50 arthritis 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 homeostasis/metabolism MP:0005376 9.65 APRT GRHPR HOGA1 HPRT1 MOCOS PRODH
2 renal/urinary system MP:0005367 9.23 APRT GRHPR HOGA1 HPRT1 SLC22A12 SLC2A9

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
Skeletal Muscle, Testes, Liver, Thyroid

Publications for Xanthinuria

Articles related to Xanthinuria:

(show top 50) (show all 208)
# Title Authors PMID Year
1
Xanthine urolithiasis in a cat: a case report and evaluation of a candidate gene for xanthine dehydrogenase. 61 54
17576085 2007
2
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. 61 54
14551354 2003
3
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. 61 54
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. 61 54
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. 61 54
9510406 1998
10
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. 61 54
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]. 61 54
1307615 1992
16
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. 61 54
1803043 1991
17
[The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria]. 61 54
1912172 1991
18
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. 61 54
2379312 1990
19
Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol. 61 54
2323062 1990
20
A novel mutation in xanthine dehydrogenase in a case with xanthinuria in Hunan province of China. 61
32067994 2020
21
Urolithiasis due to Hereditary Xanthinuria Type II: A Long-term Follow-up report. 61
32444521 2020
22
Modified forearm ischemic test in hypouricemic patients. 61
32312155 2020
23
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. 61
32073534 2020
24
Xanthine oxidoreductase knockout mice with high HPRT activity were not rescued by NAD+ replenishment. 61
32126884 2020
25
Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. 61
31914939 2020
26
XANTHINE NEPHROLITHIASIS IN JUVENILE CAPTIVE GIANT OTTERS (PTERONURA BRASILIENSIS). 61
31926528 2020
27
An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt. 61
32071838 2020
28
Targeted renal knockdown of Na+/H+ exchanger regulatory factor Sip1 produces uric acid nephrolithiasis in Drosophila. 61
31364377 2019
29
Epidemiology of feline urolithiasis in Mexico (2006-2017). 61
31803489 2019
30
Adaptable Xerogel-Layered Amperometric Biosensor Platforms on Wire Electrodes for Clinically Relevant Measurements. 61
31174353 2019
31
Hereditary xanthinuria in a goat. 61
30758870 2019
32
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). 61
29935280 2018
33
[Genetic and biochemical features of the monogenic hereditary urolithiasis]. 61
30135278 2018
34
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. 61
29916968 2018
35
Hereditary xanthinuria is not so rare disorder of purine metabolism. 61
29723117 2018
36
Xanthine urolithiasis: Inhibitors of xanthine crystallization. 61
30157195 2018
37
Randomized, allopurinol-controlled trial of the effects of dietary nucleotides and active hexose correlated compound in the treatment of canine leishmaniosis. 61
28495197 2017
38
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. 61
27919260 2016
39
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. 61
28508967 2016
40
Adverse urinary effects of allopurinol in dogs with leishmaniasis. 61
27112522 2016
41
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation]. 61
27078247 2016
42
[Type 1 xanthinuria: Report on three cases]. 61
26521682 2015
43
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. 61
26478726 2015
44
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health. 61
26283345 2015
45
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. 61
26110747 2015
46
Modern diagnostic approach to hereditary xanthinuria. 61
25370766 2015
47
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria. 61
25967871 2015
48
Uric acid accumulation in an Arabidopsis urate oxidase mutant impairs seedling establishment by blocking peroxisome maintenance. 61
25052714 2014
49
Biosensing methods for xanthine determination: a review. 61
24629268 2014
50
Purine disorders with hypouricemia. 61
24798598 2014

Variations for Xanthinuria

ClinVar genetic disease variations for Xanthinuria:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XDH NM_000379.4(XDH):c.*1094A>CSNV Uncertain significance 335740 rs886055943 2:31557730-31557730 2:31334864-31334864
2 XDH NM_000379.4(XDH):c.2198-7T>ASNV Uncertain significance 335774 rs750072647 2:31589867-31589867 2:31367001-31367001
3 XDH NM_000379.4(XDH):c.2592C>T (p.His864=)SNV Uncertain significance 335771 rs368056609 2:31587063-31587063 2:31364197-31364197
4 XDH NM_000379.4(XDH):c.3277-13deldeletion Uncertain significance 335761 rs752820043 2:31569722-31569722 2:31346856-31346856
5 XDH NM_000379.4(XDH):c.*705_*706CT[1]short repeat Likely benign 335749 rs10590467 2:31558116-31558117 2:31335250-31335251

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
13.61 XDH SUOX PRODH NFS1 MOCOS HPRT1
2 10.8 HOGA1 GRHPR
3 10.23 SLC2A9 SLC22A12
4 10.23 XDH HPRT1 AOX1
5 9.86 XDH AOX1

GO Terms for Xanthinuria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.92 SUOX PRODH NFS1 HOGA1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.92 XDH SUOX PRODH GRHPR AOX1
2 nucleoside metabolic process GO:0009116 9.54 HPRT1 APRT
3 grooming behavior GO:0007625 9.51 HPRT1 APRT
4 purine-containing compound salvage GO:0043101 9.49 HPRT1 APRT
5 urate metabolic process GO:0046415 9.48 SLC2A9 SLC22A12
6 glyoxylate metabolic process GO:0046487 9.46 HOGA1 GRHPR
7 molybdopterin cofactor biosynthetic process GO:0032324 9.43 NFS1 MOCOS
8 urate transport GO:0015747 9.4 SLC2A9 SLC22A12
9 Mo-molybdopterin cofactor biosynthetic process GO:0006777 9.37 NFS1 MOCOS
10 purine ribonucleoside salvage GO:0006166 9.32 HPRT1 APRT
11 4-hydroxyproline catabolic process GO:0019470 9.26 PRODH HOGA1
12 adenine metabolic process GO:0046083 9.16 HPRT1 APRT
13 xanthine catabolic process GO:0009115 8.96 XDH AOX1
14 adenine salvage GO:0006168 8.62 HPRT1 APRT

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.83 XDH NFS1 HOGA1 GRHPR AOX1
2 oxidoreductase activity GO:0016491 9.8 XDH SUOX PRODH GRHPR AOX1
3 transmembrane transporter activity GO:0022857 9.65 SLC7A9 SLC2A9 SLC22A12
4 iron-sulfur cluster binding GO:0051536 9.54 XDH NFS1 AOX1
5 NAD binding GO:0051287 9.49 GRHPR AOX1
6 2 iron, 2 sulfur cluster binding GO:0051537 9.46 XDH AOX1
7 FAD binding GO:0071949 9.33 XDH PRODH AOX1
8 molybdenum ion binding GO:0030151 9.32 SUOX MOCOS
9 urate transmembrane transporter activity GO:0015143 9.26 SLC2A9 SLC22A12
10 xanthine dehydrogenase activity GO:0004854 8.96 XDH AOX1
11 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....