MCID: XNT004
MIFTS: 37

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 44 71
Xanthine Dehydrogenase Deficiency 12
Xanthine Oxidase Deficiency 12
Xanthinuria, Type Ii 44

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 i and xanthinuria, type ii. 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 and liver, 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 71)
# Related Disease Score Top Affiliating Genes
1 xanthinuria, type i 32.8 XDH SUOX AOX1
2 xanthinuria, type ii 32.8 XDH MOCOS AOX1
3 hereditary xanthinuria 32.3 XDH SUOX MOCOS APRT AOX1
4 molybdenum cofactor deficiency 30.5 XDH SUOX AOX1
5 hypouricemia, renal, 1 30.1 SLC2A9 SLC22A12
6 molybdenum cofactor deficiency, complementation group a 29.9 SUOX APRT
7 urolithiasis 29.9 XDH SLC7A9 HOGA1 APRT AGXT
8 gout 29.9 XDH SLC2A9 SLC22A12 APRT
9 hyperuricemia 29.8 XDH SLC2A9 SLC22A12
10 sulfite oxidase deficiency, isolated 29.7 SUOX AOX1
11 nephrolithiasis, calcium oxalate 29.7 GRHPR APRT AGXT
12 lesch-nyhan syndrome 29.7 XDH SLC2A9 SLC22A12 APRT
13 nephrolithiasis 29.2 XDH SLC2A9 SLC22A12 GRHPR APRT AGXT
14 adenine phosphoribosyltransferase deficiency 29.0 XDH HOGA1 GRHPR APRT AGXT
15 autosomal recessive disease 10.2
16 molybdenum cofactor deficiency, complementation group c 10.2 SUOX AOX1
17 alzheimer disease 17 10.2 XDH SLC22A12
18 hyperlysinemia, type i 10.2 SUOX PRODH
19 disorder of purine metabolism 10.2
20 phosphoribosylpyrophosphate synthetase superactivity 10.1 GRHPR APRT
21 urethral calculus 10.1 HOGA1 GRHPR
22 hyperprolinemia, type i 10.1 SUOX PRODH
23 alkaptonuria 10.1 PRODH MOCOS
24 ureterolithiasis 10.0 APRT AGXT
25 hyperoxaluria, primary, type ii 10.0 GRHPR AGXT
26 rheumatoid arthritis 10.0
27 hemochromatosis, type 1 10.0
28 urinary tract infection 10.0
29 juvenile rheumatoid arthritis 10.0
30 peptic ulcer disease 10.0
31 arthritis 10.0
32 tubulointerstitial kidney disease, autosomal dominant, 1 10.0 SLC2A9 SLC22A12
33 d-glyceric aciduria 9.9 GRHPR AGXT
34 burkitt lymphoma 9.8
35 pheochromocytoma 9.8
36 urate oxidase, pseudogene 9.8
37 autism 9.8
38 orotic aciduria 9.8
39 beta-thalassemia 9.8
40 adrenal gland pheochromocytoma 9.8
41 hyperekplexia 9.8
42 isolated ectopia lentis 9.8
43 microcephaly 9.8
44 pyelonephritis 9.8
45 pancytopenia 9.8
46 nephrocalcinosis 9.8
47 ehlers-danlos syndrome 9.8
48 renal tubular acidosis 9.8
49 pyuria 9.8
50 duodenal ulcer 9.8

Graphical network of the top 20 diseases related to Xanthinuria:



Diseases related to Xanthinuria

Symptoms & Phenotypes for Xanthinuria

MGI Mouse Phenotypes related to Xanthinuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.23 AGXT APRT GRHPR HOGA1 SLC22A12 SLC2A9

Drugs & Therapeutics for Xanthinuria

Search Clinical Trials , 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, Liver

Publications for Xanthinuria

Articles related to Xanthinuria:

(show top 50) (show all 214)
# 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. 61 54
12502743 2002
5
[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. 61 54
12406401 2002
6
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. 61 54
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)]. 61 54
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]. 54 61
8976115 1996
11
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. 61 54
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. 61 54
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
[Molybdenum cofactor deficiency type B manifested as Leigh-like syndrome: a case report and literature review]. 61
33548958 2021
21
Pure xanthine pediatric urolithiasis: A cause of acute renal failure. 61
33083235 2021
22
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B. 61
33502714 2021
23
Glasgow Early Treatment Arm Favirpiravir (GETAFIX) for adults with early stage COVID-19: A structured summary of a study protocol for a randomised controlled trial. 61
33213530 2020
24
Fortuitous Discovery of Hereditary Xanthinuria. 61
33073950 2020
25
A Trial of Favipiravir and Hydroxychloroquine combination in Adults Hospitalized with moderate and severe Covid-19: A structured summary of a study protocol for a randomised controlled trial. 61
33129363 2020
26
Urolithiasis due to Hereditary Xanthinuria Type II: A Long-term Follow-up report. 61
32444521 2020
27
A novel mutation in xanthine dehydrogenase in a case with xanthinuria in Hunan province of China. 61
32067994 2020
28
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. 61
32073534 2020
29
Xanthine oxidoreductase knockout mice with high HPRT activity were not rescued by NAD+ replenishment. 61
32126884 2020
30
Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. 61
31914939 2020
31
XANTHINE NEPHROLITHIASIS IN JUVENILE CAPTIVE GIANT OTTERS (PTERONURA BRASILIENSIS). 61
31926528 2020
32
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
33
Modified forearm ischemic test in hypouricemic patients. 61
32312155 2020
34
Targeted renal knockdown of Na+/H+ exchanger regulatory factor Sip1 produces uric acid nephrolithiasis in Drosophila. 61
31364377 2019
35
Epidemiology of feline urolithiasis in Mexico (2006-2017). 61
31803489 2019
36
Adaptable Xerogel-Layered Amperometric Biosensor Platforms on Wire Electrodes for Clinically Relevant Measurements. 61
31174353 2019
37
Hereditary xanthinuria in a goat. 61
30758870 2019
38
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). 61
29935280 2018
39
[Genetic and biochemical features of the monogenic hereditary urolithiasis]. 61
30135278 2018
40
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. 61
29916968 2018
41
Xanthine urolithiasis: Inhibitors of xanthine crystallization. 61
30157195 2018
42
Hereditary xanthinuria is not so rare disorder of purine metabolism. 61
29723117 2018
43
Randomized, allopurinol-controlled trial of the effects of dietary nucleotides and active hexose correlated compound in the treatment of canine leishmaniosis. 61
28495197 2017
44
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. 61
27919260 2016
45
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. 61
28508967 2016
46
Adverse urinary effects of allopurinol in dogs with leishmaniasis. 61
27112522 2016
47
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation]. 61
27078247 2016
48
[Type 1 xanthinuria: Report on three cases]. 61
26521682 2015
49
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. 61
26478726 2015
50
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health. 61
26283345 2015

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>C SNV Uncertain significance 335740 rs886055943 2:31557730-31557730 2:31334864-31334864
2 XDH NM_000379.4(XDH):c.2592C>T (p.His864=) SNV Uncertain significance 335771 rs368056609 2:31587063-31587063 2:31364197-31364197
3 XDH NM_000379.4(XDH):c.2198-7T>A SNV Uncertain significance 335774 rs750072647 2:31589867-31589867 2:31367001-31367001
4 XDH NM_000379.4(XDH):c.3277-13del Deletion Uncertain significance 335761 rs752820043 2:31569722-31569722 2:31346856-31346856
5 XDH NM_000379.4(XDH):c.*705_*706CT[1] Microsatellite 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

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 9.02 SUOX PRODH NFS1 HOGA1 AGXT

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.89 XDH SUOX PRODH GRHPR AOX1
2 lactation GO:0007595 9.51 XDH APRT
3 urate metabolic process GO:0046415 9.48 SLC2A9 SLC22A12
4 cellular nitrogen compound metabolic process GO:0034641 9.46 GRHPR AGXT
5 pyruvate biosynthetic process GO:0042866 9.43 HOGA1 AGXT
6 molybdopterin cofactor biosynthetic process GO:0032324 9.4 NFS1 MOCOS
7 urate transport GO:0015747 9.37 SLC2A9 SLC22A12
8 Mo-molybdopterin cofactor biosynthetic process GO:0006777 9.32 NFS1 MOCOS
9 4-hydroxyproline catabolic process GO:0019470 9.26 PRODH HOGA1
10 glyoxylate catabolic process GO:0009436 9.16 HOGA1 AGXT
11 xanthine catabolic process GO:0009115 8.96 XDH AOX1
12 glyoxylate metabolic process GO:0046487 8.8 HOGA1 GRHPR AGXT

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.85 XDH SUOX PRODH GRHPR AOX1
2 catalytic activity GO:0003824 9.8 NFS1 MOCOS HOGA1 AGXT
3 protein homodimerization activity GO:0042803 9.73 XDH NFS1 HOGA1 GRHPR AOX1 AGXT
4 transmembrane transporter activity GO:0022857 9.7 SLC7A9 SLC2A9 SLC22A12
5 iron-sulfur cluster binding GO:0051536 9.61 XDH NFS1 AOX1
6 pyridoxal phosphate binding GO:0030170 9.58 NFS1 MOCOS AGXT
7 NAD binding GO:0051287 9.51 GRHPR AOX1
8 2 iron, 2 sulfur cluster binding GO:0051537 9.48 XDH AOX1
9 molybdenum ion binding GO:0030151 9.37 SUOX MOCOS
10 FAD binding GO:0071949 9.33 XDH PRODH AOX1
11 urate transmembrane transporter activity GO:0015143 9.32 SLC2A9 SLC22A12
12 xanthine dehydrogenase activity GO:0004854 8.96 XDH AOX1
13 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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