MCID: DHY008
MIFTS: 21

Dihydroxyadeninuria

Categories: Rare diseases

Aliases & Classifications for Dihydroxyadeninuria

MalaCards integrated aliases for Dihydroxyadeninuria:

Name: Dihydroxyadeninuria 53
Adenine Phosphoribosyltransferase Deficiency 73
Aprt Deficiency 53

Classifications:



External Ids:

UMLS 73 C0268120

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 Febuxostat and Allopurinol 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 12.4
2 lesch-nyhan syndrome 10.0
3 nephrolithiasis 10.0
4 xanthinuria 10.0
5 corneal dystrophy 10.0
6 primary hyperoxaluria 10.0
7 teratocarcinoma 10.0
8 kidney disease 10.0
9 hereditary xanthinuria 10.0

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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Febuxostat Approved Phase 4 144060-53-7 134018
2
Allopurinol Approved Phase 4 315-30-0 2094
3 Antirheumatic Agents Phase 4
4 Free Radical Scavengers Phase 4
5 Antioxidants Phase 4
6 Antimetabolites Phase 4
7 Protective Agents Phase 4
8 Noni

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 78)
# Title Authors Year
1
Corrigendum to "Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency" [J. Chromatogr. B 1036-1037 (2016) 170-177]. ( 29861153 )
2018
2
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
3
AJKD Atlas of Renal Pathology: 2,8-Dihydroxyadeninuria. ( 28236886 )
2017
4
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis. ( 28466077 )
2017
5
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report. ( 28717278 )
2017
6
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. ( 28566603 )
2017
7
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey. ( 27994857 )
2016
8
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria. ( 28509161 )
2016
9
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency. ( 26684317 )
2016
10
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. ( 26724837 )
2016
11
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency. ( 27770717 )
2016
12
Adenine phosphoribosyltransferase deficiency as a cause of renal failure. ( 25900388 )
2015
13
A rare case of primary non-function of renal allograft due to adenine phosphoribosyltransferase deficiency. ( 26253830 )
2015
14
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. ( 24459232 )
2014
15
2,8-dihydroxyadeninuria disease. ( 23064195 )
2012
16
Adenine phosphoribosyltransferase deficiency. ( 22700886 )
2012
17
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. ( 23430916 )
2012
18
Adenine phosphoribosyltransferase deficiency in children. ( 22212387 )
2012
19
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. ( 21749366 )
2011
20
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. ( 20064951 )
2010
21
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. ( 20101413 )
2010
22
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. ( 20150536 )
2010
23
Adenine phosphoribosyltransferase deficiency in a Chinese man with early-onset gout. ( 19435978 )
2009
24
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]. ( 18409532 )
2008
25
2,8-Dihydroxyadeninuria-induced progressive renal failure. ( 28656998 )
2008
26
2,8-dihydroxyadeninuria: are there no cases in Scandinavia? ( 15764278 )
2005
27
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. ( 15278765 )
2004
28
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. ( 15077874 )
2004
29
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. ( 14767036 )
2004
30
[Acute renal failure and 2,8-dihydroxyadeninuria]. ( 15584640 )
2004
31
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. ( 11532677 )
2001
32
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. ( 11325702 )
2001
33
[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. ( 9608233 )
1998
34
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. ( 9510404 )
1998
35
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. ( 9689017 )
1998
36
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
37
Acute renal failure in a middle-aged woman with 2,8-dihydroxyadeninuria. ( 9306356 )
1997
38
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. ( 8864750 )
1996
39
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. ( 8863589 )
1996
40
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. ( 8825602 )
1995
41
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
42
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
43
Adenine Phosphoribosyltransferase Deficiency ( 22934314 )
1993
44
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. ( 8447714 )
1993
45
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. ( 8503153 )
1993
46
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. ( 1307610 )
1992
47
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. ( 1353080 )
1992
48
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
49
Mutational basis of adenine phosphoribosyltransferase deficiency. ( 1781410 )
1991
50
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method. ( 1777979 )
1991

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
38 LifeMap
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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