MCID: XNT004
MIFTS: 37

Xanthinuria malady

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

Aliases & Classifications for Xanthinuria

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Aliases & Descriptions for Xanthinuria:

Name: Xanthinuria 10 47 12 65
Xanthinuria, Type I 36 65
Xanthine Dehydrogenase Deficiency 10
 
Xanthine Oxidase Deficiency 10
Xanthine Dehydrogenase 11
Xanthinuria, Type Ii 36

Classifications:



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Disease Ontology10 DOID:0060236
SNOMED-CT59 124147007, 72682008
UMLS65 C0268118, C1863688, C0220988

Summaries for Xanthinuria

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Disease Ontology:10 A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.

MalaCards based summary: Xanthinuria, also known as xanthinuria, type i, is related to xanthinuria, type i and xanthinuria type 2. An important gene associated with Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways are Nucleotide Metabolism and Uricosurics Pathway, Pharmacodynamics. Affiliated tissues include endothelial, brain and smooth muscle, and related mouse phenotype renal/urinary system.

Wikipedia:68 Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the... more...

Related Diseases for Xanthinuria

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Diseases in the Xanthinuria family:

Xanthinuria, Type I Xanthinuria Type 2
Hereditary Xanthinuria

Diseases related to Xanthinuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1xanthinuria, type i34.3AOX1, SUOX, XDH
2xanthinuria type 212.6
3hereditary xanthinuria12.6
4obesity10.3
5pancreatitis10.3
6encephalitis10.3
7diarrhea 4, malabsorptive, congenital10.3HPRT1, XDH
8xanthogranulomatous sialadenitis10.2AOX1, MOCOS, XDH
9vohwinkel syndrome10.2SUOX, XDH
10combined oxidative phosphorylation deficiency 610.2APRT, HPRT1
11momo syndrome10.1AOX1, SUOX, XDH
12congenital disorder of glycosylation, type iia10.1APRT, HPRT1
13malaria10.1
14ovarian hyperstimulation syndrome10.1
15asthma10.1
16cystic fibrosis10.1
17insulin-like growth factor i10.1
18pancreatic cancer10.1
19rett syndrome10.1
20atherosclerosis10.1
21hepatitis10.1
22hydrocephalus10.1
23tick-borne encephalitis10.1
24small cell carcinoma10.1
25peripheral neuropathy10.1
26western equine encephalitis10.1
27dysentery10.1
28tinea unguium10.1
29anodontia10.1
30toxic shock syndrome10.1
31foster-kennedy syndrome10.1
32gaucher's disease10.1
33sensory peripheral neuropathy10.1
34angiodysplasia10.1
35cervicitis10.1
36adenocarcinoma10.1
37proctitis10.1
38laryngitis10.1
39angiolipoma10.1
40neuronitis10.1
41neuropathy10.1
42fasciitis10.1
43necrotizing fasciitis10.1
44acquired von willebrand syndrome10.1
45nephrogenic systemic fibrosis10.1
46radiation proctitis10.1
47immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome10.0AOX1, APRT, SUOX, XDH
48deafness, x-linked 110.0ADSL, HPRT1
49spinal muscular atrophy, lower extremity-predominant, 2, ad10.0ALDOB, SUOX
50spastic paraplegia, optic atrophy, and neuropathy9.9HPRT1, SLC22A12, SLC2A9

Graphical network of the top 20 diseases related to Xanthinuria:



Diseases related to xanthinuria

Symptoms for Xanthinuria

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Drugs & Therapeutics for Xanthinuria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Xanthinuria


Cochrane evidence based reviews: xanthinuria, type i

Genetic Tests for Xanthinuria

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Anatomical Context for Xanthinuria

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MalaCards organs/tissues related to Xanthinuria:

33
Endothelial, Brain, Smooth muscle, Skin

Animal Models for Xanthinuria or affiliated genes

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MGI Mouse Phenotypes related to Xanthinuria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7APRT, HPRT1, SLC22A12, SLC2A9, XDH

Publications for Xanthinuria

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Articles related to Xanthinuria:

(show all 48)
idTitleAuthorsYear
1
Open Retrograde Endovascular Stenting for Left Common Carotid Artery Dissection Secondary to Surgical Repair of Acute Aortic Dissection: A Case Report and Review of the Literature. (25765635)
2015
2
Annexin A2 depletion delays EGFR endocytic trafficking via cofilin activation and enhances EGFR signaling and metastasis formation. (23792445)
2014
3
Topiramate improves psychiatric symptoms in a patient with Lewy body dementia. (25539042)
2014
4
Is constraint-induced movement therapy harmful in unilateral spastic cerebral palsy with ipsilateral cortico-spinal projections? (24372093)
2013
5
Sociodemographic, biological and behavioural risk factors associated with incidence of dental caries in schoolchildren's first permanent molars: a 3-year follow-up study. (23597212)
2013
6
Human NAIP and mouse NAIP1 recognize bacterial type III secretion needle protein for inflammasome activation. (23940371)
2013
7
Allergic skin disease. (22099615)
2012
8
Prognostic accuracy of five simple scales in childhood bacterial meningitis. (22830535)
2012
9
Azathioprine hypersensitivity presenting as cardiogenic shock and Sweet's syndrome in a patient with microscopic polyangiitis. (22821107)
2012
10
Correlation between serum H2S and pulmonary function in children with bronchial asthma. (22562181)
2012
11
Malignant mesothelioma in Eastern Asia. (23244069)
2012
12
Bilateral mini-invasive adductor tenotomy for the management of chronic unilateral adductor longus tendinopathy in athletes. (22707750)
2012
13
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. (21542062)
2011
14
High-flow Neonatal Macrocerebral Arteriovenous Fistulas in Hereditary Hemorrhagic Telangiectasia. (24059775)
2011
15
Reappraisal of mesenchymal chondrosarcoma: novel morphologic observations of the hyaline cartilage and endochondral ossification and beta-catenin, Sox9, and osteocalcin immunostaining of 22 cases. (20138330)
2010
16
Brucellosis as a Transboudary Infection of Animals and Humans which Needs to be Managed by Cooperative Efforts of Different Countries. Introduction. (20850687)
2010
17
Regular gaits and optimal velocities for motor proteins. (18556760)
2008
18
Tyrosine 302 in RACK1 is essential for insulin-like growth factor-I-mediated competitive binding of PP2A and beta1 integrin and for tumor cell proliferation and migration. (18567578)
2008
19
Switch-like control of SREBP-2 transport triggered by small changes in ER cholesterol: a delicate balance. (19041766)
2008
20
The centrosomal localization of KM-HN-1 (MGC33607) depends on the leucine zipper motif and the C-terminal coiled-coil domain. (18160854)
2007
21
Pulpal expression of TRPV1 in molar incisor hypomineralisation. (18076848)
2007
22
A case of linear IgA disease in a child with IgA and IgG circulating antibodies directed to BPAg2. (18173529)
2007
23
Microtubules regulate expression of ICAM-1 in epidermoid cells (KB cells). (16931899)
2006
24
Acute effects of hemodialysis on cytokine transcription profiles: evidence for C-reactive protein-dependency of mediator induction. (17063178)
2006
25
Pten and the brain: sizing up social interaction. (16675386)
2006
26
Inhibitory effect of tumor suppressor gene PTEN on hepatocellular carcinoma cell line HHCC proliferation and its mechanisms of action]. (16438866)
2005
27
HIV-1 infection is associated with altered innate pulmonary immunity. (16170759)
2005
28
Combined vascular endothelial growth factor and platelet-derived growth factor inhibition in rat cardiac allografts: beneficial effects on inflammation and smooth muscle cell proliferation. (15665766)
2005
29
Protein S deficiency in HIV associated ischaemic stroke: an epiphenomenon of HIV infection. (16170096)
2005
30
Determination and use of haplotypes: ethnic comparison and association of the lipoprotein lipase gene and coronary artery disease in Mexican-Americans. (12865761)
2003
31
Pneumatosis cystoides intestinalis coli. (12399868)
2003
32
Hormone replacement therapy, C-reactive protein, and fibrinogen in healthy postmenopausal women. (14625121)
2003
33
Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts. (12567263)
2002
34
HCC CKs are altered histones during tumor transformation in hepatoma. (15080494)
2002
35
CD122 (interleukin-2 receptor beta subunit). (11388752)
2001
36
Polymerization of the SAM domain of TEL in leukemogenesis and transcriptional repression. (11483520)
2001
37
Rsk1 mediates a MEK-MAP kinase cell survival signal. (10679322)
2000
38
Role of nitric oxide and septide-insensitive NK(1) receptors in bronchoconstriction induced by aerosolised neurokinin A in guinea-pigs. (10696090)
2000
39
The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. (9043501)
1997
40
Hemoptysis as the presenting symptom in bronchiolitis obliterans organizing pneumonia. (9187212)
1997
41
Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia. (8872057)
1996
42
IGF-binding protein mRNAs in the human fetus: tissue and cellular distribution of developmental expression. (8964576)
1996
43
Activation and association of Stat3 with Src in v-Src-transformed cell lines. (8657134)
1996
44
Reduced daunomycin accumulation in drug-sensitive and multidrug-resistant human carcinoma KB cells following phorbol ester treatment: a potential role for protein kinase C in reducing drug influx. (8895200)
1996
45
Pore-forming and haemolytic properties of the Gardnerella vaginalis cytolysin. (7934928)
1993
46
Endothelial cell leukocyte adhesion molecule-1 (ELAM-1) and intercellular adhesion molecule-1 (ICAM-1) expression in gingival tissue during health and experimentally-induced gingivitis. (1281230)
1992
47
Mid-second-trimester labor induction: concentrated oxytocin compared with prostaglandin E2 vaginal suppositories. (1988897)
1991
48
Urinary tract infections: correlation between organisms obtained simultaneously from the urine and feces of patients with bacteriuria and pyuria. (4976354)
1969

Variations for Xanthinuria

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Expression for genes affiliated with Xanthinuria

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Search GEO for disease gene expression data for Xanthinuria.

Pathways for genes affiliated with Xanthinuria

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GO Terms for genes affiliated with Xanthinuria

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Biological processes related to Xanthinuria according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1adenine metabolic processGO:004608310.4APRT, HPRT1
2xanthine catabolic processGO:000911510.3AOX1, XDH
3purine nucleotide biosynthetic processGO:000616410.2ADSL, HPRT1
4water-soluble vitamin metabolic processGO:000676710.1AOX1, NFS1
5nucleobase-containing small molecule metabolic processGO:005508610.0APRT, HPRT1, XDH
6protein homotetramerizationGO:00512899.7DPYS, HPRT1
7purine nucleobase metabolic processGO:00061449.5ADSL, APRT, HPRT1, XDH
8small molecule metabolic processGO:00442818.2ALDOB, APRT, DPYS, HPRT1, XDH

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:005066010.0AOX1, XDH
2molybdopterin cofactor bindingGO:00435469.9AOX1, SUOX

Sources for Xanthinuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet