MCID: HRD142
MIFTS: 34

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 26 60
Xanthinuria 26 74
Combined Deficiency of Xanthine Dehydrogenase and Aldehyde Oxidase 26
Xanthine Dehydrogenase Deficiency 26
Xanthine Oxidase Deficiency 26
Xanthine Stone Disease 60
Xanthic Urolithiasis 60
Xanthinuria, Type I 74
Classic Xanthinuria 60
Xdh Deficiency 26

Characteristics:

Orphanet epidemiological data:

60
hereditary xanthinuria
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 35 E79.8
Orphanet 60 ORPHA3467

Summaries for Hereditary Xanthinuria

Genetics Home Reference : 26 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 Metabolism and Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include kidney, skeletal muscle and liver.

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 33)
# Related Disease Score Top Affiliating Genes
1 xanthinuria, type i 31.8 AOX1 APRT SUOX XDH
2 xanthinuria 29.8 AOX1 APRT SUOX XDH
3 nephrolithiasis 29.8 APRT XDH
4 lesch-nyhan syndrome 29.7 APRT XDH
5 gout 29.7 APRT XDH
6 xanthinuria, type ii 29.7 AOX1 XDH
7 molybdenum cofactor deficiency 29.2 AOX1 SUOX XDH
8 hemochromatosis, type 1 10.1
9 juvenile hereditary hemochromatosis 10.1
10 autism 10.0
11 beta-thalassemia 10.0
12 arthritis 10.0
13 renal tubular acidosis 10.0
14 thalassemia 10.0
15 nephrocalcinosis 10.0
16 ehlers-danlos syndrome 10.0
17 acute lymphocytic leukemia 10.0
18 leukemia 10.0
19 lymphocytic leukemia 10.0
20 myocardial stunning 10.0
21 rheumatoid arthritis 9.9
22 burkitt lymphoma 9.9
23 pheochromocytoma 9.9
24 orotic aciduria 9.9
25 diabetes mellitus 9.9
26 liver disease 9.9
27 lymphoma 9.9
28 myopathy 9.9
29 thyroiditis 9.9
30 psoriasis 9.9
31 adenine phosphoribosyltransferase deficiency 9.9 APRT XDH
32 nephrolithiasis, calcium oxalate 9.8 APRT XDH
33 purine-pyrimidine metabolic disorder 9.4 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:

42
Kidney, Skeletal Muscle, Liver

Publications for Hereditary Xanthinuria

Articles related to Hereditary Xanthinuria:

(show top 50) (show all 74)
# Title Authors Year
1
Hereditary xanthinuria in a goat. ( 30758870 )
2019
2
Hereditary xanthinuria is not so rare disorder of purine metabolism. ( 29723117 )
2018
3
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. ( 29916968 )
2018
4
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. ( 26478726 )
2015
5
Modern diagnostic approach to hereditary xanthinuria. ( 25370766 )
2015
6
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. ( 22821105 )
2012
7
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. ( 23203137 )
2012
8
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. ( 14627688 )
2003
9
[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. ( 12406401 )
2002
10
Deletion mutation in Drosophila ma-l homologous, putative molybdopterin cofactor sulfurase gene is associated with bovine xanthinuria type II. ( 10801779 )
2000
11
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. ( 10365419 )
1999
12
Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria. ( 9598085 )
1998
13
Capillary electrophoretic analysis of hypoxanthine and xanthine for the diagnosis of xanthinuria. ( 9598166 )
1998
14
Xanthinuria in a family of Cavalier King Charles spaniels. ( 9413115 )
1997
15
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. ( 8976115 )
1996
16
Comparison of capillary electrophoretic and liquid chromatographic determination of hypoxanthine and xanthine for the diagnosis of xanthinuria. ( 8680593 )
1996
17
Xanthinuria--an unusual cause for renal stone disease. ( 9251319 )
1996
18
Severe hypouricemia: biochemical expression of asymptomatic xanthinuria. ( 7497632 )
1995
19
Hereditary xanthinuria: report of two cases. ( 8104605 )
1993
20
A Chinese case of hereditary xanthinuria. ( 8295411 )
1993
21
Hereditary xanthinuria and Ehlers-Danlos syndrome. ( 1293384 )
1992
22
Estimating the prevalence of xanthinuria by laboratory screening. ( 1424140 )
1992
23
An immunoreactive xanthine oxidase protein-possessing xanthinuria and her family. ( 1638758 )
1992
24
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. ( 2379312 )
1990
25
Asymptomatic hereditary xanthinuria: a case report. ( 2273608 )
1990
26
A new case with hereditary xanthinuria: response to exercise. ( 2736776 )
1989
27
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. ( 2754557 )
1989
28
Family study of hereditary xanthinuria--decreased duodenal xanthine oxidase activity and increased urinary excretion of xanthine and hypoxanthine in heterozygotes. ( 2624237 )
1989
29
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
30
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. ( 3818951 )
1987
31
Effect of fructose infusion in hereditary xanthinuria. ( 3728145 )
1986
32
Hereditary xanthinuria presenting in infancy with nephrolithiasis. ( 3755469 )
1986
33
Asymptomatic xanthinuria detected as a result of routine analysis of serum for urate. ( 3971577 )
1985
34
Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria. ( 6423323 )
1984
35
Pregnancy in xanthinuria: demonstration of fetal uric acid production? ( 6434832 )
1984
36
Hypoxanthine and xanthine concentrations determined by high performance liquid chromatography in biological fluids from patients with xanthinuria. ( 6478626 )
1984
37
Xanthinuria: the cause of hypouricemia in hepatic disease. ( 7424643 )
1980
38
Xanthinuria: a new case. ( 7428164 )
1980
39
Two successive pregnancies in a woman with xanthinuria: unexpected increase in serum uric acid levels. ( 7452437 )
1980
40
Pregnancy in a woman with xanthinuria: study of amniotic fluid uric acid. ( 463967 )
1979
41
Hypouricemia and malignant neoplasms. A new case of xanthinuria. ( 485757 )
1979
42
Observation of xanthinuria and xanthine calculosis in beef calves. ( 513397 )
1979
43
Hereditary xanthinuria: report on three patients and short review of the literature. ( 927625 )
1977
44
Xanthinuria and pregnancy. ( 69167 )
1977
45
Xanthinuria and pregnancy. ( 69908 )
1977
46
Xanthinuria, lithiasis and gout in the same family. ( 855719 )
1977
47
Xanthinuria : study of a large kindred with familial urolithiasis and gout. ( 861350 )
1977
48
Xanthinuria and xanthine calculous pyonephrosis. ( 933094 )
1976
49
The effect of allopurinol on oxypurine excretion in xanthinuria. ( 950637 )
1976
50
Letter: Xanthinuria as a cause of hypouricaemia in liver disease. ( 1148711 )
1975

Variations for Hereditary Xanthinuria

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
13.09 AOX1 APRT SUOX XDH
2 10.39 AOX1 XDH
3 9.53 AOX1 XDH

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 flavin adenine dinucleotide binding GO:0050660 9.37 AOX1 XDH
5 iron-sulfur cluster binding GO:0051536 9.32 AOX1 XDH
6 FAD binding GO:0071949 9.26 AOX1 XDH
7 2 iron, 2 sulfur cluster binding GO:0051537 9.16 AOX1 XDH
8 xanthine dehydrogenase activity GO:0004854 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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