MCID: HRD142
MIFTS: 27

Hereditary Xanthinuria

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

Aliases & Classifications for Hereditary Xanthinuria

MalaCards integrated aliases for Hereditary Xanthinuria:

Name: Hereditary Xanthinuria 25 56
Xanthinuria 25 69
Combined Deficiency of Xanthine Dehydrogenase and Aldehyde Oxidase 25
Xanthine Dehydrogenase Deficiency 25
Xanthine Oxidase Deficiency 25
Xanthine Stone Disease 56
Xanthic Urolithiasis 56
Xanthinuria, Type I 69
Classic Xanthinuria 56
Xdh Deficiency 25

Characteristics:

Orphanet epidemiological data:

56
hereditary xanthinuria
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA3467
ICD10 via Orphanet 34 E79.8

Summaries for Hereditary Xanthinuria

Genetics Home Reference : 25 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.

MalaCards based summary : Hereditary Xanthinuria, also known as xanthinuria, is related to xanthinuria, type i and xanthinuria. An important gene associated with Hereditary Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics and Effects of Nitric Oxide. Affiliated tissues include kidney.

Related Diseases for Hereditary Xanthinuria

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



Diseases related to Hereditary Xanthinuria

Symptoms & Phenotypes for Hereditary Xanthinuria

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:

39
Kidney

Publications for Hereditary Xanthinuria

Articles related to Hereditary Xanthinuria:

(show all 23)
id Title Authors Year
1
Modern diagnostic approach to hereditary xanthinuria. ( 25370766 )
2015
2
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. ( 26478726 )
2015
3
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. ( 23203137 )
2012
4
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. ( 22821105 )
2012
5
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. ( 14627688 )
2003
6
[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. ( 12406401 )
2002
7
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. ( 10365419 )
1999
8
Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria. ( 9598085 )
1998
9
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. ( 8976115 )
1996
10
A Chinese case of hereditary xanthinuria. ( 8295411 )
1993
11
Hereditary xanthinuria: report of two cases. ( 8104605 )
1993
12
Hereditary xanthinuria and Ehlers-Danlos syndrome. ( 1293384 )
1992
13
Asymptomatic hereditary xanthinuria: a case report. ( 2273608 )
1990
14
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. ( 2379312 )
1990
15
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. ( 2754557 )
1989
16
A new case with hereditary xanthinuria: response to exercise. ( 2736776 )
1989
17
Family study of hereditary xanthinuria--decreased duodenal xanthine oxidase activity and increased urinary excretion of xanthine and hypoxanthine in heterozygotes. ( 2624237 )
1989
18
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
19
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. ( 3818951 )
1987
20
Hereditary xanthinuria presenting in infancy with nephrolithiasis. ( 3755469 )
1986
21
Effect of fructose infusion in hereditary xanthinuria. ( 3728145 )
1986
22
Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria. ( 6423323 )
1984
23
Hereditary xanthinuria: report on three patients and short review of the literature. ( 927625 )
1977

Variations for Hereditary Xanthinuria

ClinVar genetic disease variations for Hereditary 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

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:

id Super pathways Score Top Affiliating Genes
1 10.39 AOX1 XDH
2 9.53 AOX1 XDH

GO Terms for Hereditary Xanthinuria

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.33 AOX1 SUOX XDH
2 lactation GO:0007595 8.96 APRT XDH
3 xanthine catabolic process GO:0009115 8.62 AOX1 XDH

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.61 AOX1 SUOX XDH
2 iron ion binding GO:0005506 9.46 AOX1 XDH
3 electron carrier activity GO:0009055 9.4 AOX1 XDH
4 iron-sulfur cluster binding GO:0051536 9.37 AOX1 XDH
5 flavin adenine dinucleotide binding GO:0050660 9.32 AOX1 XDH
6 2 iron, 2 sulfur cluster binding GO:0051537 9.26 AOX1 XDH
7 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.16 AOX1 XDH
8 oxidoreductase activity, acting on the aldehyde or oxo group of donors GO:0016903 8.96 AOX1 XDH
9 molybdopterin cofactor binding GO:0043546 8.8 AOX1 SUOX XDH

Sources for Hereditary 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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