MCID: HRD142
MIFTS: 31

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 25 58
Xanthinuria 25 71
Combined Deficiency of Xanthine Dehydrogenase and Aldehyde Oxidase 25
Xanthine Dehydrogenase Deficiency 25
Xanthine Oxidase Deficiency 25
Xanthine Stone Disease 58
Xanthic Urolithiasis 58
Xanthinuria, Type I 71
Classic Xanthinuria 58
Xdh Deficiency 25

Characteristics:

Orphanet epidemiological data:

58
hereditary xanthinuria
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E79.8
Orphanet 58 ORPHA3467
UMLS 71 C0220988 C0268118

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. Researchers have described two major forms of hereditary xanthinuria, types I and II. The types are distinguished by the enzymes involved; they have the same signs and symptoms.

MalaCards based summary : Hereditary Xanthinuria, also known as xanthinuria, is related to xanthinuria and urolithiasis. 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 testes.

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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 xanthinuria 30.9 XDH SUOX APRT AOX1
2 urolithiasis 30.1 XDH APRT
3 xanthinuria, type i 30.0 XDH SUOX AOX1
4 xanthinuria, type ii 29.9 XDH AOX1
5 sulfite oxidase deficiency, isolated 29.6 SUOX AOX1
6 molybdenum cofactor deficiency 29.5 XDH SUOX AOX1
7 lesch-nyhan syndrome 29.5 XDH APRT
8 adenine phosphoribosyltransferase deficiency 29.4 XDH APRT
9 gout 29.4 XDH APRT
10 nephrolithiasis 28.9 XDH APRT
11 molybdenum cofactor deficiency, complementation group a 28.9 XDH SUOX APRT
12 disorder of purine metabolism 10.3
13 juvenile arthritis 10.2
14 autosomal recessive disease 10.2
15 juvenile rheumatoid arthritis 10.2
16 nephrolithiasis, calcium oxalate 10.2
17 hemochromatosis, type 1 10.2
18 myocardial stunning 10.1
19 autism 10.0
20 hypouricemia, renal, 1 10.0
21 beta-thalassemia 10.0
22 thalassemia 10.0
23 pyelonephritis 10.0
24 nephrocalcinosis 10.0
25 acute cystitis 10.0
26 ehlers-danlos syndrome 10.0
27 renal tubular acidosis 10.0
28 pyuria 10.0
29 hyperuricemia 10.0
30 acute kidney failure 10.0
31 liver disease 10.0
32 urinary tract obstruction 10.0
33 congestive heart failure 10.0
34 peptic ulcer disease 10.0
35 dihydroxyadeninuria 10.0
36 burkitt lymphoma 10.0
37 pheochromocytoma 10.0
38 urate oxidase, pseudogene 10.0
39 orotic aciduria 10.0
40 adrenal gland pheochromocytoma 10.0
41 pancytopenia 10.0
42 duodenal ulcer 10.0
43 cerebral palsy 10.0
44 myopathy 10.0
45 pustulosis of palm and sole 10.0
46 thyroiditis 10.0
47 arthritis 10.0
48 vasculitis 10.0
49 psoriasis 10.0
50 neutropenia 10.0

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stone Disease in Children and Their Families Available NCT00765531

Search NIH Clinical Center for Hereditary Xanthinuria

Genetic Tests for Hereditary Xanthinuria

Anatomical Context for Hereditary Xanthinuria

MalaCards organs/tissues related to Hereditary Xanthinuria:

40
Kidney, Skeletal Muscle, Testes, Liver, Thyroid

Publications for Hereditary Xanthinuria

Articles related to Hereditary Xanthinuria:

(show top 50) (show all 208)
# Title Authors PMID Year
1
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria. 6 61
25967871 2015
2
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. 6 61
17368066 2007
3
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. 61 6
14624414 2003
4
Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. 6 61
11302742 2001
5
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. 61 6
11379872 2001
6
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. 6 61
9153281 1997
7
Urolithiasis due to Hereditary Xanthinuria Type II: A Long-term Follow-up report. 61
32444521 2020
8
A novel mutation in xanthine dehydrogenase in a case with xanthinuria in Hunan province of China. 61
32067994 2020
9
Modified forearm ischemic test in hypouricemic patients. 61
32312155 2020
10
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. 61
32073534 2020
11
Xanthine oxidoreductase knockout mice with high HPRT activity were not rescued by NAD+ replenishment. 61
32126884 2020
12
Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. 61
31914939 2020
13
XANTHINE NEPHROLITHIASIS IN JUVENILE CAPTIVE GIANT OTTERS (PTERONURA BRASILIENSIS). 61
31926528 2020
14
An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt. 61
32071838 2020
15
Targeted renal knockdown of Na+/H+ exchanger regulatory factor Sip1 produces uric acid nephrolithiasis in Drosophila. 61
31364377 2019
16
Epidemiology of feline urolithiasis in Mexico (2006-2017). 61
31803489 2019
17
Adaptable Xerogel-Layered Amperometric Biosensor Platforms on Wire Electrodes for Clinically Relevant Measurements. 61
31174353 2019
18
Hereditary xanthinuria in a goat. 61
30758870 2019
19
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). 61
29935280 2018
20
[Genetic and biochemical features of the monogenic hereditary urolithiasis]. 61
30135278 2018
21
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria. 61
29916968 2018
22
Hereditary xanthinuria is not so rare disorder of purine metabolism. 61
29723117 2018
23
Xanthine urolithiasis: Inhibitors of xanthine crystallization. 61
30157195 2018
24
Randomized, allopurinol-controlled trial of the effects of dietary nucleotides and active hexose correlated compound in the treatment of canine leishmaniosis. 61
28495197 2017
25
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. 61
27919260 2016
26
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. 61
28508967 2016
27
Adverse urinary effects of allopurinol in dogs with leishmaniasis. 61
27112522 2016
28
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation]. 61
27078247 2016
29
[Type 1 xanthinuria: Report on three cases]. 61
26521682 2015
30
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. 61
26478726 2015
31
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health. 61
26283345 2015
32
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. 61
26110747 2015
33
Modern diagnostic approach to hereditary xanthinuria. 61
25370766 2015
34
Uric acid accumulation in an Arabidopsis urate oxidase mutant impairs seedling establishment by blocking peroxisome maintenance. 61
25052714 2014
35
Biosensing methods for xanthine determination: a review. 61
24629268 2014
36
Purine disorders with hypouricemia. 61
24798598 2014
37
Classical xanthinuria: a rare cause of pediatric urolithiasis. 61
26328123 2013
38
Xanthine urolithiasis causing bilateral ureteral obstruction in a 10-month-old cat. 61
23413269 2013
39
Urine concentrations of xanthine, hypoxanthine and uric acid in UK Cavalier King Charles spaniels. 61
23859747 2013
40
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. 61
23249873 2013
41
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. 61
22981351 2012
42
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. 61
23203137 2012
43
[Asymptomatic classical hereditary xanthinuria type 1]. 61
22991859 2012
44
A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation. 61
23024809 2012
45
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. 61
22821105 2012
46
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. 61
21963464 2012
47
[A case of Xanthinuria in a patient with marked hypouricemia]. 61
22167616 2011
48
Comparative analysis of nephrolithiasis in otherwise healthy versus medically complex gastrostomy fed children. 61
21527227 2011
49
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient. 61
20077140 2010
50
Nutritional aspect of nephrolithiasis. 61
21369385 2010

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

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

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 XDH SUOX AOX1
2 iron ion binding GO:0005506 9.46 XDH AOX1
3 electron transfer activity GO:0009055 9.43 XDH AOX1
4 flavin adenine dinucleotide binding GO:0050660 9.37 XDH AOX1
5 iron-sulfur cluster binding GO:0051536 9.32 XDH AOX1
6 FAD binding GO:0071949 9.26 XDH AOX1
7 2 iron, 2 sulfur cluster binding GO:0051537 9.16 XDH AOX1
8 xanthine dehydrogenase activity GO:0004854 8.96 XDH AOX1
9 molybdopterin cofactor binding GO:0043546 8.8 XDH SUOX AOX1

Sources for Hereditary Xanthinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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