MCID: HRD142
MIFTS: 43

Hereditary Xanthinuria

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

Aliases & Classifications for Hereditary Xanthinuria

MalaCards integrated aliases for Hereditary Xanthinuria:

Name: Hereditary Xanthinuria 43 58
Xanthinuria 43 71
Combined Deficiency of Xanthine Dehydrogenase and Aldehyde Oxidase 43
Xanthine Dehydrogenase Deficiency 43
Xanthine Oxidase Deficiency 43
Xanthine Stone Disease 58
Xanthic Urolithiasis 58
Xanthinuria, Type I 71
Classic Xanthinuria 58
Xdh Deficiency 43

Characteristics:

Orphanet epidemiological data:

58
hereditary xanthinuria
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


Summaries for Hereditary Xanthinuria

MedlinePlus Genetics : 43 Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms tiny crystals that occasionally build up to create kidney stones. These stones can impair kidney function and ultimately cause kidney failure. Related signs and symptoms can include abdominal pain, recurrent urinary tract infections, and blood in the urine (hematuria). Less commonly, xanthine crystals build up in the muscles, causing pain and cramping. In some people with hereditary xanthinuria, the condition does not cause any health problems.Researchers have described two major forms of hereditary xanthinuria, types I and II. The types are distinguished by the enzymes involved; they have the same signs and symptoms.

MalaCards based summary : Hereditary Xanthinuria, also known as xanthinuria, is related to urolithiasis and xanthinuria. An important gene associated with Hereditary Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Metabolism and Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include kidney and skeletal muscle, and related phenotypes are decreased urinary urate and hypouricemia

Related Diseases for Hereditary Xanthinuria

Diseases in the Xanthinuria family:

Xanthinuria, Type I Xanthinuria, Type Ii
Hereditary Xanthinuria

Diseases related to Hereditary Xanthinuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 urolithiasis 30.4 XDH APRT
2 xanthinuria 30.2 XDH SUOX MOCOS APRT AOX1
3 xanthinuria, type i 30.0 XDH SUOX AOX1
4 adenine phosphoribosyltransferase deficiency 29.7 XDH APRT
5 gout 29.7 XDH APRT
6 lesch-nyhan syndrome 29.7 XDH APRT
7 xanthinuria, type ii 29.7 XDH MOCOS AOX1
8 molybdenum cofactor deficiency 29.5 XDH SUOX AOX1
9 nephrolithiasis 29.3 XDH APRT
10 sulfite oxidase deficiency, isolated 29.3 SUOX AOX1
11 molybdenum cofactor deficiency, complementation group a 29.2 SUOX APRT
12 disorder of purine metabolism 10.2
13 autosomal recessive disease 10.1
14 juvenile rheumatoid arthritis 10.1
15 arthritis 10.1
16 rheumatoid arthritis 10.0
17 nephrolithiasis, calcium oxalate 10.0
18 hemochromatosis, type 1 10.0
19 autism 9.9
20 hypouricemia, renal, 1 9.9
21 beta-thalassemia 9.9
22 urinary tract infection 9.9
23 pyelonephritis 9.9
24 nephrocalcinosis 9.9
25 ehlers-danlos syndrome 9.9
26 renal tubular acidosis 9.9
27 pyuria 9.9
28 hyperuricemia 9.9
29 acute kidney failure 9.9
30 urinary tract obstruction 9.9
31 peptic ulcer disease 9.9
32 dihydroxyadeninuria 9.9
33 thalassemia 9.9
34 burkitt lymphoma 9.8
35 pheochromocytoma 9.8
36 urate oxidase, pseudogene 9.8
37 orotic aciduria 9.8
38 adrenal gland pheochromocytoma 9.8
39 hyperekplexia 9.8
40 isolated ectopia lentis 9.8
41 microcephaly 9.8
42 pancytopenia 9.8
43 duodenal ulcer 9.8
44 cerebral palsy 9.8
45 liver disease 9.8
46 myopathy 9.8
47 pustulosis of palm and sole 9.8
48 inherited metabolic disorder 9.8
49 thyroiditis 9.8
50 vasculitis 9.8

Graphical network of the top 20 diseases related to Hereditary Xanthinuria:



Diseases related to Hereditary Xanthinuria

Symptoms & Phenotypes for Hereditary Xanthinuria

Human phenotypes related to Hereditary Xanthinuria:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased urinary urate 58 31 hallmark (90%) Very frequent (99-80%) HP:0011935
2 hypouricemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003537
3 uric acid nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000791
4 xanthine nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000804
5 aldehyde oxidase deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002932
6 sulfite oxidase deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0003643
7 hyperxanthinemia 58 31 frequent (33%) Frequent (79-30%) HP:0010933
8 xanthinuria 58 31 frequent (33%) Frequent (79-30%) HP:0010934
9 increased urinary hypoxanthine 58 31 frequent (33%) Frequent (79-30%) HP:0011814
10 crystalluria 58 31 frequent (33%) Frequent (79-30%) HP:0020074
11 reduced xanthine dehydrogenase level 31 frequent (33%) HP:0003534
12 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
13 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
14 chronic fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012432
15 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
16 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
17 poor appetite 58 31 occasional (7.5%) Occasional (29-5%) HP:0004396
18 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
19 rheumatoid arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001370
20 arthropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003040
21 flank pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0030157
22 gout 58 31 very rare (1%) Very rare (<4-1%) HP:0001997
23 reduced xanthine dehydrogenase activity 58 Frequent (79-30%)

Drugs & Therapeutics for Hereditary Xanthinuria

Search Clinical Trials , NIH Clinical Center for Hereditary Xanthinuria

Genetic Tests for Hereditary Xanthinuria

Anatomical Context for Hereditary Xanthinuria

MalaCards organs/tissues related to Hereditary Xanthinuria:

40
Kidney, Skeletal Muscle

Publications for Hereditary Xanthinuria

Articles related to Hereditary Xanthinuria:

(show top 50) (show all 214)
# Title Authors PMID Year
1
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria. 6 61
25967871 2015
2
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. 6 61
17368066 2007
3
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. 6 61
14624414 2003
4
Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. 6 61
11302742 2001
5
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. 61 6
11379872 2001
6
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. 61 6
9153281 1997
7
[Molybdenum cofactor deficiency type B manifested as Leigh-like syndrome: a case report and literature review]. 61
33548958 2021
8
Pure xanthine pediatric urolithiasis: A cause of acute renal failure. 61
33083235 2021
9
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B. 61
33502714 2021
10
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
11
Fortuitous Discovery of Hereditary Xanthinuria. 61
33073950 2020
12
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
13
Urolithiasis due to Hereditary Xanthinuria Type II: A Long-term Follow-up report. 61
32444521 2020
14
A novel mutation in xanthine dehydrogenase in a case with xanthinuria in Hunan province of China. 61
32067994 2020
15
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. 61
32073534 2020
16
Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. 61
31914939 2020
17
XANTHINE NEPHROLITHIASIS IN JUVENILE CAPTIVE GIANT OTTERS (PTERONURA BRASILIENSIS). 61
31926528 2020
18
Xanthine oxidoreductase knockout mice with high HPRT activity were not rescued by NAD+ replenishment. 61
32126884 2020
19
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
20
Modified forearm ischemic test in hypouricemic patients. 61
32312155 2020
21
Targeted renal knockdown of Na+/H+ exchanger regulatory factor Sip1 produces uric acid nephrolithiasis in Drosophila. 61
31364377 2019
22
Epidemiology of feline urolithiasis in Mexico (2006-2017). 61
31803489 2019
23
Adaptable Xerogel-Layered Amperometric Biosensor Platforms on Wire Electrodes for Clinically Relevant Measurements. 61
31174353 2019
24
Hereditary xanthinuria in a goat. 61
30758870 2019
25
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). 61
29935280 2018
26
[Genetic and biochemical features of the monogenic hereditary urolithiasis]. 61
30135278 2018
27
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. 61
29916968 2018
28
Xanthine urolithiasis: Inhibitors of xanthine crystallization. 61
30157195 2018
29
Hereditary xanthinuria is not so rare disorder of purine metabolism. 61
29723117 2018
30
Randomized, allopurinol-controlled trial of the effects of dietary nucleotides and active hexose correlated compound in the treatment of canine leishmaniosis. 61
28495197 2017
31
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. 61
27919260 2016
32
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. 61
28508967 2016
33
Adverse urinary effects of allopurinol in dogs with leishmaniasis. 61
27112522 2016
34
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation]. 61
27078247 2016
35
[Type 1 xanthinuria: Report on three cases]. 61
26521682 2015
36
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. 61
26478726 2015
37
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health. 61
26283345 2015
38
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. 61
26110747 2015
39
Modern diagnostic approach to hereditary xanthinuria. 61
25370766 2015
40
Uric acid accumulation in an Arabidopsis urate oxidase mutant impairs seedling establishment by blocking peroxisome maintenance. 61
25052714 2014
41
Biosensing methods for xanthine determination: a review. 61
24629268 2014
42
Purine disorders with hypouricemia. 61
24798598 2014
43
Classical xanthinuria: a rare cause of pediatric urolithiasis. 61
26328123 2013
44
Xanthine urolithiasis causing bilateral ureteral obstruction in a 10-month-old cat. 61
23413269 2013
45
Urine concentrations of xanthine, hypoxanthine and uric acid in UK Cavalier King Charles spaniels. 61
23859747 2013
46
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. 61
23249873 2013
47
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. 61
22981351 2012
48
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. 61
23203137 2012
49
[Asymptomatic classical hereditary xanthinuria type 1]. 61
22991859 2012
50
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. 61
21963464 2012

Variations for Hereditary Xanthinuria

ClinVar genetic disease variations for Hereditary Xanthinuria:

6 (show top 50) (show all 322)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XDH NM_000379.4(XDH):c.682C>T (p.Arg228Ter) SNV Pathogenic 2954 rs119460972 2:31609391-31609391 2:31386525-31386525
2 XDH NM_000379.4(XDH):c.2567del (p.Thr856fs) Deletion Pathogenic 2955 rs1572530443 2:31587088-31587088 2:31364222-31364222
3 XDH NM_000379.4(XDH):c.445C>T (p.Arg149Cys) SNV Pathogenic 2956 rs72549369 2:31620584-31620584 2:31397718-31397718
4 MOCOS NM_017947.4(MOCOS):c.169G>C (p.Ala57Pro) SNV Pathogenic 253161 rs886037854 18:33775246-33775246 18:36195283-36195283
5 MOCOS NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) SNV Pathogenic 253162 rs750896617 18:33840055-33840055 18:36260092-36260092
6 MOCOS NM_017947.4(MOCOS):c.1037dup (p.Gln347fs) Duplication Pathogenic 253163 rs886037855 18:33785055-33785056 18:36205092-36205093
7 XDH NM_000379.4(XDH):c.3507del (p.Gly1170fs) Deletion Pathogenic 570826 rs1558674294 2:31565061-31565061 2:31342195-31342195
8 XDH NM_000379.4(XDH):c.140dup (p.Cys48fs) Duplication Pathogenic 641114 rs773456900 2:31625970-31625971 2:31403104-31403105
9 XDH NM_000379.4(XDH):c.2274del (p.Glu760fs) Deletion Pathogenic 579351 rs760186813 2:31589784-31589784 2:31366918-31366918
10 XDH NM_000379.4(XDH):c.3520-1G>C SNV Pathogenic 635517 rs1172253757 2:31564261-31564261 2:31341395-31341395
11 XDH NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) SNV Likely pathogenic 505904 rs1553411468 2:31565128-31565128 2:31342262-31342262
12 XDH NM_000379.4(XDH):c.1686+1G>C SNV Likely pathogenic 505602 rs148412639 2:31596738-31596738 2:31373872-31373872
13 XDH NM_000379.4(XDH):c.1602+1G>A SNV Likely pathogenic 566280 rs376882470 2:31598245-31598245 2:31375379-31375379
14 XDH NM_000379.4(XDH):c.1686+1G>C SNV Conflicting interpretations of pathogenicity 505602 rs148412639 2:31596738-31596738 2:31373872-31373872
15 MOCOS NM_017947.4(MOCOS):c.2407C>G (p.Gln803Glu) SNV Uncertain significance 566864 rs774534818 18:33840136-33840136 18:36260173-36260173
16 MOCOS NM_017947.4(MOCOS):c.1798-3T>C SNV Uncertain significance 566065 rs371191766 18:33800015-33800015 18:36220052-36220052
17 XDH NM_000379.4(XDH):c.1885G>T (p.Val629Phe) SNV Uncertain significance 571131 rs148464316 2:31593316-31593316 2:31370450-31370450
18 MOCOS NM_017947.4(MOCOS):c.1616C>T (p.Ser539Phe) SNV Uncertain significance 571788 rs150119583 18:33795759-33795759 18:36215796-36215796
19 MOCOS NM_017947.4(MOCOS):c.1629C>G (p.Asn543Lys) SNV Uncertain significance 572421 rs138424306 18:33795772-33795772 18:36215809-36215809
20 XDH NM_000379.4(XDH):c.3736C>T (p.Arg1246Cys) SNV Uncertain significance 572582 rs142329784 2:31562393-31562393 2:31339527-31339527
21 MOCOS NM_017947.4(MOCOS):c.1850T>C (p.Met617Thr) SNV Uncertain significance 572695 rs368198282 18:33800070-33800070 18:36220107-36220107
22 XDH NM_000379.4(XDH):c.2437G>C (p.Val813Leu) SNV Uncertain significance 574241 rs142951412 2:31588861-31588861 2:31365995-31365995
23 XDH NM_000379.4(XDH):c.361G>A (p.Val121Ile) SNV Uncertain significance 576475 rs751332444 2:31621511-31621511 2:31398645-31398645
24 XDH NM_000379.4(XDH):c.3488T>C (p.Val1163Ala) SNV Uncertain significance 576949 rs142988357 2:31565080-31565080 2:31342214-31342214
25 MOCOS NM_017947.4(MOCOS):c.653A>T (p.Glu218Val) SNV Uncertain significance 578524 rs758893848 18:33779999-33779999 18:36200036-36200036
26 XDH NM_000379.4(XDH):c.3260A>G (p.Asn1087Ser) SNV Uncertain significance 642139 rs370788512 2:31570404-31570404 2:31347538-31347538
27 MOCOS NM_017947.4(MOCOS):c.277A>G (p.Thr93Ala) SNV Uncertain significance 644865 rs890456473 18:33778697-33778697 18:36198734-36198734
28 XDH NM_000379.4(XDH):c.2603T>G (p.Val868Gly) SNV Uncertain significance 648660 rs1296028517 2:31587052-31587052 2:31364186-31364186
29 XDH NM_000379.4(XDH):c.463C>A (p.Pro155Thr) SNV Uncertain significance 649230 rs145413551 2:31620566-31620566 2:31397700-31397700
30 XDH NM_000379.4(XDH):c.2362A>T (p.Ile788Phe) SNV Uncertain significance 650290 rs141050887 2:31588936-31588936 2:31366070-31366070
31 MOCOS NM_017947.4(MOCOS):c.1358A>G (p.Asn453Ser) SNV Uncertain significance 651388 rs769839991 18:33795501-33795501 18:36215538-36215538
32 MOCOS NM_017947.4(MOCOS):c.1893A>C (p.Glu631Asp) SNV Uncertain significance 651732 rs1598880124 18:33800113-33800113 18:36220150-36220150
33 XDH NM_000379.4(XDH):c.340G>A (p.Gly114Arg) SNV Uncertain significance 652170 rs770700444 2:31621532-31621532 2:31398666-31398666
34 MOCOS NM_017947.4(MOCOS):c.14C>T (p.Ala5Val) SNV Uncertain significance 654063 rs1262805938 18:33767516-33767516 18:36187553-36187553
35 MOCOS NM_017947.4(MOCOS):c.1718G>A (p.Gly573Glu) SNV Uncertain significance 654064 rs771741997 18:33795861-33795861 18:36215898-36215898
36 MOCOS NM_017947.4(MOCOS):c.541G>A (p.Glu181Lys) SNV Uncertain significance 654879 rs1598871599 18:33779887-33779887 18:36199924-36199924
37 MOCOS NM_017947.4(MOCOS):c.790A>G (p.Lys264Glu) SNV Uncertain significance 656034 rs148137052 18:33780136-33780136 18:36200173-36200173
38 MOCOS NM_017947.4(MOCOS):c.1849A>G (p.Met617Val) SNV Uncertain significance 657364 rs746750840 18:33800069-33800069 18:36220106-36220106
39 XDH NM_000379.4(XDH):c.385C>T (p.Arg129Trp) SNV Uncertain significance 660276 rs145064943 2:31621487-31621487 2:31398621-31398621
40 XDH NM_000379.4(XDH):c.635T>C (p.Phe212Ser) SNV Uncertain significance 662020 rs1351096563 2:31610693-31610693 2:31387827-31387827
41 MOCOS NM_017947.4(MOCOS):c.512C>T (p.Pro171Leu) SNV Uncertain significance 639841 rs150556770 18:33779858-33779858 18:36199895-36199895
42 XDH NM_000379.4(XDH):c.2252T>C (p.Ile751Thr) SNV Uncertain significance 640681 rs767059856 2:31589806-31589806 2:31366940-31366940
43 XDH NM_000379.4(XDH):c.1274C>G (p.Ser425Cys) SNV Uncertain significance 335788 rs138649664 2:31600072-31600072 2:31377206-31377206
44 XDH NM_000379.4(XDH):c.2268C>T (p.Gly756=) SNV Uncertain significance 335773 rs886055946 2:31589790-31589790 2:31366924-31366924
45 MOCOS NM_017947.4(MOCOS):c.1255C>T (p.Arg419Ter) SNV Uncertain significance 253160 rs142150953 18:33793365-33793365 18:36213402-36213402
46 XDH NM_000379.4(XDH):c.2176G>C (p.Glu726Gln) SNV Uncertain significance 335775 rs61731083 2:31590848-31590848 2:31367982-31367982
47 XDH NM_000379.4(XDH):c.606G>A (p.Thr202=) SNV Uncertain significance 335797 rs752308380 2:31610722-31610722 2:31387856-31387856
48 XDH NM_000379.4(XDH):c.825T>C (p.Phe275=) SNV Uncertain significance 335794 rs145596057 2:31606682-31606682 2:31383816-31383816
49 XDH NM_000379.4(XDH):c.*938G>T SNV Uncertain significance 335743 rs193245354 2:31557886-31557886 2:31335020-31335020
50 XDH NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile) SNV Uncertain significance 335759 rs148235835 2:31562464-31562464 2:31339598-31339598

Expression for Hereditary Xanthinuria

Search GEO for disease gene expression data for Hereditary Xanthinuria.

Pathways for Hereditary Xanthinuria

Pathways related to Hereditary Xanthinuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 XDH SUOX MOCOS APRT AOX1
2 10.39 XDH AOX1
3 9.53 XDH AOX1

GO Terms for Hereditary Xanthinuria

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.43 XDH SUOX AOX1
2 electron transport chain GO:0022900 9.16 XDH AOX1
3 lactation GO:0007595 8.96 XDH APRT
4 xanthine catabolic process GO:0009115 8.62 XDH AOX1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.63 XDH SUOX AOX1
2 iron ion binding GO:0005506 9.48 XDH AOX1
3 electron transfer activity GO:0009055 9.43 XDH AOX1
4 iron-sulfur cluster binding GO:0051536 9.4 XDH AOX1
5 flavin adenine dinucleotide binding GO:0050660 9.37 XDH AOX1
6 FAD binding GO:0071949 9.32 XDH AOX1
7 2 iron, 2 sulfur cluster binding GO:0051537 9.26 XDH AOX1
8 molybdenum ion binding GO:0030151 9.16 SUOX MOCOS
9 xanthine dehydrogenase activity GO:0004854 8.96 XDH AOX1
10 molybdopterin cofactor binding GO:0043546 8.8 XDH SUOX AOX1

Sources for Hereditary 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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