MCID: DHY008
MIFTS: 19

Dihydroxyadeninuria

Categories: Rare diseases

Aliases & Classifications for Dihydroxyadeninuria

MalaCards integrated aliases for Dihydroxyadeninuria:

Name: Dihydroxyadeninuria 53
Adenine Phosphoribosyltransferase Deficiency 73
Aprt Deficiency 53

Classifications:



Summaries for Dihydroxyadeninuria

MalaCards based summary : Dihydroxyadeninuria, also known as adenine phosphoribosyltransferase deficiency, is related to adenine phosphoribosyltransferase deficiency and lesch-nyhan syndrome. An important gene associated with Dihydroxyadeninuria is APRT (Adenine Phosphoribosyltransferase). The drugs Allopurinol and Febuxostat have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and t cells.

Related Diseases for Dihydroxyadeninuria

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

# Related Disease Score Top Affiliating Genes
1 adenine phosphoribosyltransferase deficiency 12.1
2 lesch-nyhan syndrome 9.9
3 xanthinuria 9.9
4 primary hyperoxaluria 9.9
5 teratocarcinoma 9.9
6 hereditary xanthinuria 9.9

Graphical network of the top 20 diseases related to Dihydroxyadeninuria:



Diseases related to Dihydroxyadeninuria

Symptoms & Phenotypes for Dihydroxyadeninuria

Drugs & Therapeutics for Dihydroxyadeninuria

Drugs for Dihydroxyadeninuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Allopurinol Approved Phase 4 315-30-0 2094
2
Febuxostat Approved Phase 4 144060-53-7 134018
3 Antioxidants Phase 4
4 Protective Agents Phase 4
5 Antirheumatic Agents Phase 4
6 Antimetabolites Phase 4
7 Noni Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion Completed NCT02752633 Phase 4 Allopurinol;Febuxostat
2 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
3 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
4 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
5 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
6 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835

Search NIH Clinical Center for Dihydroxyadeninuria

Genetic Tests for Dihydroxyadeninuria

Anatomical Context for Dihydroxyadeninuria

MalaCards organs/tissues related to Dihydroxyadeninuria:

41
Kidney, Testes, T Cells

Publications for Dihydroxyadeninuria

Articles related to Dihydroxyadeninuria:

(show top 50) (show all 69)
# Title Authors Year
1
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial. ( 29241594 )
2018
2
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis. ( 28466077 )
2017
3
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report. ( 28717278 )
2017
4
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. ( 28566603 )
2017
5
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey. ( 27994857 )
2016
6
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria. ( 28509161 )
2016
7
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency. ( 26684317 )
2016
8
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. ( 26724837 )
2016
9
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency. ( 27770717 )
2016
10
Adenine phosphoribosyltransferase deficiency as a cause of renal failure. ( 25900388 )
2015
11
A rare case of primary non-function of renal allograft due to adenine phosphoribosyltransferase deficiency. ( 26253830 )
2015
12
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. ( 24459232 )
2014
13
Adenine phosphoribosyltransferase deficiency. ( 22700886 )
2012
14
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. ( 23430916 )
2012
15
Adenine phosphoribosyltransferase deficiency in children. ( 22212387 )
2012
16
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. ( 21749366 )
2011
17
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. ( 20101413 )
2010
18
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. ( 20150536 )
2010
19
Adenine phosphoribosyltransferase deficiency in a Chinese man with early-onset gout. ( 19435978 )
2009
20
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]. ( 18409532 )
2008
21
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. ( 15278765 )
2004
22
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. ( 15077874 )
2004
23
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. ( 14767036 )
2004
24
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. ( 11532677 )
2001
25
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. ( 11325702 )
2001
26
[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. ( 9608233 )
1998
27
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. ( 9510404 )
1998
28
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. ( 9689017 )
1998
29
Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0). ( 9255672 )
1997
30
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. ( 8864750 )
1996
31
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. ( 8643571 )
1996
32
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. ( 8863589 )
1996
33
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. ( 8825602 )
1995
34
Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency. ( 7912608 )
1994
35
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. ( 8455250 )
1993
36
Adenine Phosphoribosyltransferase Deficiency ( 22934314 )
1993
37
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. ( 8447714 )
1993
38
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. ( 8503153 )
1993
39
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. ( 1307610 )
1992
40
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. ( 1353080 )
1992
41
Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes. ( 1998341 )
1991
42
Mutational basis of adenine phosphoribosyltransferase deficiency. ( 1781410 )
1991
43
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method. ( 1777979 )
1991
44
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. ( 1986109 )
1991
45
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. ( 1985452 )
1991
46
[Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]. ( 2255060 )
1990
47
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. ( 2227934 )
1990
48
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency. ( 1977137 )
1990
49
Re: Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman. ( 2804578 )
1989
50
Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. ( 2769881 )
1989

Variations for Dihydroxyadeninuria

Expression for Dihydroxyadeninuria

Search GEO for disease gene expression data for Dihydroxyadeninuria.

Pathways for Dihydroxyadeninuria

GO Terms for Dihydroxyadeninuria

Sources for Dihydroxyadeninuria

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
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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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