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, thyroid and liver.

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:

42
Kidney, Thyroid, Liver, Skeletal Muscle, Testes

Publications for Hereditary Xanthinuria

Articles related to Hereditary Xanthinuria:

(show top 50) (show all 100)
# 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
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). ( 29935280 )
2018
5
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. ( 27919260 )
2016
6
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. ( 28508967 )
2016
7
Modern diagnostic approach to hereditary xanthinuria. ( 25370766 )
2015
8
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. ( 26478726 )
2015
9
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria. ( 25967871 )
2015
10
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. ( 26110747 )
2015
11
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. ( 23249873 )
2013
12
Classical xanthinuria: a rare cause of pediatric urolithiasis. ( 26328123 )
2013
13
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. ( 22821105 )
2012
14
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. ( 23203137 )
2012
15
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. ( 21963464 )
2012
16
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. ( 22981351 )
2012
17
Xanthinuria in a domestic shorthair cat. ( 19151408 )
2009
18
Xanthinuria type I: a rare cause of urolithiasis. ( 17115198 )
2007
19
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. ( 17368066 )
2007
20
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. ( 14627688 )
2003
21
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans. ( 12670960 )
2003
22
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. ( 14551354 )
2003
23
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. ( 14624414 )
2003
24
[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]. ( 12406401 )
2002
25
Human xanthine dehydrogenase cDNA sequence and protein in an atypical case of type I xanthinuria in comparison with normal subjects. ( 11165212 )
2001
26
Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. ( 11302742 )
2001
27
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. ( 11379872 )
2001
28
Deletion mutation in Drosophila ma-l homologous, putative molybdopterin cofactor sulfurase gene is associated with bovine xanthinuria type II. ( 10801779 )
2000
29
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. ( 10844591 )
2000
30
Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria. ( 11783533 )
2000
31
A case of classical xanthinuria (type 1) with diabetes mellitus and Hashimoto's thyroiditis. ( 10481935 )
1999
32
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. ( 10365419 )
1999
33
Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria. ( 9598085 )
1998
34
Two siblings with classical xanthinuria type 1: significance of allopurinol loading test. ( 9510406 )
1998
35
Capillary electrophoretic analysis of hypoxanthine and xanthine for the diagnosis of xanthinuria. ( 9598166 )
1998
36
Xanthinuria in a family of Cavalier King Charles spaniels. ( 9413115 )
1997
37
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. ( 9153281 )
1997
38
Comparison of capillary electrophoretic and liquid chromatographic determination of hypoxanthine and xanthine for the diagnosis of xanthinuria. ( 8680593 )
1996
39
Xanthinuria--an unusual cause for renal stone disease. ( 9251319 )
1996
40
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. ( 8976115 )
1996
41
Severe hypouricemia: biochemical expression of asymptomatic xanthinuria. ( 7497632 )
1995
42
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. ( 7660932 )
1994
43
Hereditary xanthinuria: report of two cases. ( 8104605 )
1993
44
A Chinese case of hereditary xanthinuria. ( 8295411 )
1993
45
Hereditary xanthinuria and Ehlers-Danlos syndrome. ( 1293384 )
1992
46
Estimating the prevalence of xanthinuria by laboratory screening. ( 1424140 )
1992
47
An immunoreactive xanthine oxidase protein-possessing xanthinuria and her family. ( 1638758 )
1992
48
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol. ( 1803043 )
1991
49
Asymptomatic hereditary xanthinuria: a case report. ( 2273608 )
1990
50
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. ( 2379312 )
1990

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
13.1 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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