MCID: HRD142
MIFTS: 30

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 59
Xanthinuria 25 73
Combined Deficiency of Xanthine Dehydrogenase and Aldehyde Oxidase 25
Xanthine Dehydrogenase Deficiency 25
Xanthine Oxidase Deficiency 25
Xanthine Stone Disease 59
Xanthic Urolithiasis 59
Xanthinuria, Type I 73
Classic Xanthinuria 59
Xdh Deficiency 25

Characteristics:

Orphanet epidemiological data:

59
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 59 ORPHA3467
ICD10 via Orphanet 34 E79.8
UMLS 73 C0220988

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, type ii. An important gene associated with Hereditary Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Metabolism and Purine metabolism (REACTOME). 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 i 30.2 AOX1 APRT SUOX XDH
2 xanthinuria, type ii 29.6 AOX1 XDH
3 xanthinuria 28.2 AOX1 APRT SUOX XDH
4 molybdenum cofactor deficiency 28.2 AOX1 SUOX XDH
5 autism 9.9
6 beta-thalassemia 9.9
7 arthritis 9.9
8 nephrolithiasis 9.9
9 renal tubular acidosis 9.9
10 thalassemia 9.9
11 nephrocalcinosis 9.9
12 ehlers-danlos syndrome 9.9
13 cystic kidney disease 9.9
14 duodenitis 9.9
15 adenine phosphoribosyltransferase deficiency 9.7 APRT XDH
16 nephrolithiasis, calcium oxalate 9.6 APRT XDH
17 lesch-nyhan syndrome 9.5 APRT XDH
18 gout 9.2 APRT XDH
19 purine-pyrimidine metabolic disorder 9.2 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:

41
Kidney

Publications for Hereditary Xanthinuria

Articles related to Hereditary Xanthinuria:

(show all 25)
# Title Authors Year
1
Hereditary xanthinuria is not so rare disorder of purine metabolism. ( 29723117 )
2018
2
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. ( 29916968 )
2018
3
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. ( 26478726 )
2015
4
Modern diagnostic approach to hereditary xanthinuria. ( 25370766 )
2015
5
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. ( 22821105 )
2012
6
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. ( 23203137 )
2012
7
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. ( 14627688 )
2003
8
[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. ( 12406401 )
2002
9
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. ( 10365419 )
1999
10
Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria. ( 9598085 )
1998
11
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. ( 8976115 )
1996
12
Hereditary xanthinuria: report of two cases. ( 8104605 )
1993
13
A Chinese case of hereditary xanthinuria. ( 8295411 )
1993
14
Hereditary xanthinuria and Ehlers-Danlos syndrome. ( 1293384 )
1992
15
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. ( 2379312 )
1990
16
Asymptomatic hereditary xanthinuria: a case report. ( 2273608 )
1990
17
A new case with hereditary xanthinuria: response to exercise. ( 2736776 )
1989
18
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. ( 2754557 )
1989
19
Family study of hereditary xanthinuria--decreased duodenal xanthine oxidase activity and increased urinary excretion of xanthine and hypoxanthine in heterozygotes. ( 2624237 )
1989
20
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
21
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. ( 3818951 )
1987
22
Effect of fructose infusion in hereditary xanthinuria. ( 3728145 )
1986
23
Hereditary xanthinuria presenting in infancy with nephrolithiasis. ( 3755469 )
1986
24
Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria. ( 6423323 )
1984
25
Hereditary xanthinuria: report on three patients and short review of the literature. ( 927625 )
1977

Variations for Hereditary Xanthinuria

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 9.61 AOX1 SUOX XDH
2 iron ion binding GO:0005506 9.48 AOX1 XDH
3 electron transfer activity GO:0009055 9.46 AOX1 XDH
4 flavin adenine dinucleotide binding GO:0050660 9.4 AOX1 XDH
5 iron-sulfur cluster binding GO:0051536 9.37 AOX1 XDH
6 2 iron, 2 sulfur cluster binding GO:0051537 9.32 AOX1 XDH
7 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.26 AOX1 XDH
8 xanthine dehydrogenase activity GO:0004854 9.16 AOX1 XDH
9 oxidoreductase activity, acting on the aldehyde or oxo group of donors GO:0016903 8.96 AOX1 XDH
10 molybdopterin cofactor binding GO:0043546 8.8 AOX1 SUOX XDH

Sources for Hereditary Xanthinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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