MCID: HRD142
MIFTS: 30

Hereditary Xanthinuria

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

Aliases & Classifications for Hereditary Xanthinuria

MalaCards integrated aliases for Hereditary Xanthinuria:

Name: Hereditary Xanthinuria 24 55
Xanthinuria 24 69
Combined Deficiency of Xanthine Dehydrogenase and Aldehyde Oxidase 24
Xanthine Dehydrogenase Deficiency 24
Xanthine Oxidase Deficiency 24
Xanthine Stone Disease 55
Xanthic Urolithiasis 55
Xanthinuria, Type I 69
Classic Xanthinuria 55
Xdh Deficiency 24

Characteristics:

Orphanet epidemiological data:

55
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 55 ORPHA3467
ICD10 via Orphanet 33 E79.8
UMLS 69 C0220988

Summaries for Hereditary Xanthinuria

Genetics Home Reference : 24 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 ii and xanthinuria. An important gene associated with Hereditary Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Metabolism and Purine metabolism. Affiliated tissues include kidney.

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 all 19)
# Related Disease Score Top Affiliating Genes
1 xanthinuria, type ii 29.7 AOX1 XDH
2 xanthinuria 29.2 AOX1 APRT SUOX XDH
3 molybdenum cofactor deficiency 28.8 AOX1 SUOX XDH
4 xanthinuria, type i 28.2 AOX1 APRT SUOX XDH
5 blood group, i system 9.9
6 hypercalciuria, absorptive, 2 9.9
7 autism 9.9
8 beta-thalassemia 9.9
9 nephrolithiasis 9.9
10 renal tubular acidosis 9.9
11 thalassemia 9.9
12 nephrocalcinosis 9.9
13 ehlers-danlos syndrome 9.9
14 duodenitis 9.9
15 adenine phosphoribosyltransferase deficiency 9.8 APRT XDH
16 nephrolithiasis, calcium oxalate 9.7 APRT XDH
17 lesch-nyhan syndrome 9.7 APRT XDH
18 gout 9.5 APRT XDH
19 purine-pyrimidine metabolic disorder 9.5 AOX1 APRT XDH

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:

38
Kidney

Publications for Hereditary Xanthinuria

Articles related to Hereditary Xanthinuria:

(show all 23)
# Title Authors Year
1
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. ( 26478726 )
2015
2
Modern diagnostic approach to hereditary xanthinuria. ( 25370766 )
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
Hereditary xanthinuria: report of two cases. ( 8104605 )
1993
11
A Chinese case of hereditary xanthinuria. ( 8295411 )
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
A new case with hereditary xanthinuria: response to exercise. ( 2736776 )
1989
16
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. ( 2754557 )
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
# 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

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 AOX1 SUOX XDH
2 electron transport chain GO:0022900 9.16 AOX1 XDH
3 lactation GO:0007595 8.96 APRT XDH
4 xanthine catabolic process GO:0009115 8.62 AOX1 XDH

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.58 AOX1 SUOX XDH
2 iron ion binding GO:0005506 9.46 AOX1 XDH
3 electron transfer activity GO:0009055 9.43 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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