MCID: DHY008
MIFTS: 24

Dihydroxyadeninuria

Categories: Rare diseases

Aliases & Classifications for Dihydroxyadeninuria

MalaCards integrated aliases for Dihydroxyadeninuria:

Name: Dihydroxyadeninuria 20 6
Adenine Phosphoribosyltransferase Deficiency 70
Aprt Deficiency 20

Classifications:



External Ids:

UMLS 70 C0268120

Summaries for Dihydroxyadeninuria

MalaCards based summary : Dihydroxyadeninuria, also known as adenine phosphoribosyltransferase deficiency, is related to adenine phosphoribosyltransferase deficiency and nephrolithiasis, calcium oxalate. 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, t cells and b cells.

Related Diseases for Dihydroxyadeninuria

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 adenine phosphoribosyltransferase deficiency 11.2
2 nephrolithiasis, calcium oxalate 10.2
3 urolithiasis 10.2
4 kidney disease 10.1
5 urinary tract infection 10.1
6 acute kidney failure 10.0
7 xanthinuria 9.9
8 corneal dystrophy 9.9
9 teratocarcinoma 9.9
10 hereditary xanthinuria 9.9
11 posttransplant acute limbic encephalitis 9.9
12 abdominal obesity-metabolic syndrome 1 9.9
13 autosomal recessive disease 9.9
14 obstructive nephropathy 9.9
15 interstitial nephritis 9.9
16 primary hyperoxaluria 9.9
17 nephrolithiasis 9.9
18 end stage renal disease 9.9
19 disorder of purine metabolism 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 6)
# 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 Antimetabolites Phase 4
4 Antirheumatic Agents Phase 4
5 Antioxidants Phase 4
6 Protective Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Novel Assay for the Determination of Urinary 2,8-Dihydroxyadenine and Other Key Urinary Purine Metabolites: Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion in APRT Deficient Patients Completed NCT02752633 Phase 4 Allopurinol;Febuxostat

Search NIH Clinical Center for Dihydroxyadeninuria

Genetic Tests for Dihydroxyadeninuria

Anatomical Context for Dihydroxyadeninuria

MalaCards organs/tissues related to Dihydroxyadeninuria:

40
Kidney, T Cells, B Cells

Publications for Dihydroxyadeninuria

Articles related to Dihydroxyadeninuria:

(show top 50) (show all 167)
# Title Authors PMID Year
1
APRT deficiency: the need for early diagnosis. 61 6
30355577 2018
2
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report
. 61 6
30106368 2018
3
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. 61 6
28566603 2017
4
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. 61 6
26724837 2016
5
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation. 6 61
24986359 2014
6
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism. 6 61
24940675 2014
7
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan]. 61 6
22988602 2012
8
Adenine phosphoribosyltransferase deficiency in children. 6 61
22212387 2012
9
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. 6 61
23430916 2012
10
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. 6 61
21635362 2011
11
Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation. 6 61
25984046 2010
12
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. 61 6
20150536 2010
13
Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure? A report of two cases in a family with an uncommon novel mutation. 6 61
25983915 2008
14
Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure. 6 61
17126311 2007
15
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. 61 6
15571218 2004
16
Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair. 6 61
9298830 1997
17
Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese. 61 6
7758207 1995
18
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. 6 61
1353080 1992
19
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. 61 6
1985452 1991
20
Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family. 61 6
2135300 1990
21
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. 6 61
3680503 1987
22
Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD. 6
31440706 2019
23
Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient. 6
31201003 2019
24
Acute kidney failure and discrepant values of urinary proteins: When the case is not "crystal clear". 6
30890413 2019
25
Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation. 6
30993240 2019
26
Litiasis due to 2,8-dihydroxyadenine, usefulness of the genetic study. 6
30389108 2019
27
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey. 6
27994857 2016
28
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. 6
24459232 2014
29
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. 6
11243733 2001
30
A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein. 6
9521589 1998
31
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. 6
7915931 1994
32
Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87. 6
7685481 1993
33
Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. 6
3554238 1987
34
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. 61
33707627 2021
35
Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review. 61
33678741 2021
36
Urinary Crystals with 2,8-Dihydroxyadeninuria. 61
33055485 2021
37
Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency. 61
31880754 2020
38
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series. 61
32399606 2020
39
Crystalline Nephropathy due to APRT Deficiency: A Preventable Cause of Renal and Renal Allograft Failure. 61
33273797 2020
40
Rare crystalline nephropathy leading to acute graft dysfunction: a case report. 61
31752739 2019
41
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects. 61
31378568 2019
42
Long-term renal outcomes of APRT deficiency presenting in childhood. 61
30443743 2019
43
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms. 61
30470867 2019
44
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial. 61
29241594 2018
45
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report. 61
28717278 2017
46
AJKD Atlas of Renal Pathology: 2,8-Dihydroxyadeninuria. 61
28236886 2017
47
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis. 61
28466077 2017
48
Genetic defects underlying renal stone disease. 61
27838384 2016
49
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency. 61
27770717 2016
50
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria. 61
28509161 2016

Variations for Dihydroxyadeninuria

ClinVar genetic disease variations for Dihydroxyadeninuria:

6 (show top 50) (show all 94)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APRT NM_000485.3(APRT):c.329T>C (p.Leu110Pro) SNV Pathogenic 18300 rs104894508 GRCh37: 16:88876549-88876549
GRCh38: 16:88810141-88810141
2 APRT APRT, 254-BP DEL AND 8-BP INS Indel Pathogenic 18301 GRCh37:
GRCh38:
3 APRT NM_000485.3(APRT):c.542G>C (p.Ter181Ser) SNV Pathogenic 18302 rs387906584 GRCh37: 16:88876107-88876107
GRCh38: 16:88809699-88809699
4 APRT NM_000485.3(APRT):c.321+2dup Duplication Pathogenic 18295 rs281860263 GRCh37: 16:88876828-88876829
GRCh38: 16:88810420-88810421
5 APRT NM_000485.3(APRT):c.400+2dup Duplication Pathogenic 203396 rs745594160 GRCh37: 16:88876475-88876476
GRCh38: 16:88810067-88810068
6 APRT NM_000485.3(APRT):c.522_524del (p.Ser175del) Deletion Pathogenic 988021 GRCh37: 16:88876125-88876127
GRCh38: 16:88809717-88809719
7 APRT NM_000485.3(APRT):c.526C>T (p.Leu176Phe) SNV Pathogenic 988022 GRCh37: 16:88876123-88876123
GRCh38: 16:88809715-88809715
8 APRT NM_000485.3(APRT):c.526_530del (p.Leu176fs) Deletion Pathogenic 988023 GRCh37: 16:88876119-88876123
GRCh38: 16:88809711-88809715
9 APRT NM_000485.3(APRT):c.532C>T (p.Gln178Ter) SNV Pathogenic 988024 GRCh37: 16:88876117-88876117
GRCh38: 16:88809709-88809709
10 APRT NM_000485.3(APRT):c.541T>C (p.Ter181Arg) SNV Pathogenic 988025 GRCh37: 16:88876108-88876108
GRCh38: 16:88809700-88809700
11 APRT NM_000485.3(APRT):c.194A>T (p.Asp65Val) SNV Pathogenic 18297 rs104894506 GRCh37: 16:88876958-88876958
GRCh38: 16:88810550-88810550
12 APRT NM_000485.3(APRT):c.258_261dup (p.Lys88fs) Duplication Pathogenic 18299 rs281860265 GRCh37: 16:88876890-88876891
GRCh38: 16:88810482-88810483
13 APRT NM_000485.3(APRT):c.289_290del (p.Leu97fs) Microsatellite Pathogenic 988053 GRCh37: 16:88876862-88876863
GRCh38: 16:88810454-88810455
14 APRT NM_000485.3(APRT):c.392_400+1del Deletion Pathogenic 1031589 GRCh37: 16:88876477-88876486
GRCh38: 16:88810069-88810078
15 APRT NM_000485.3(APRT):c.400+3A>T SNV Pathogenic 988062 GRCh37: 16:88876475-88876475
GRCh38: 16:88810067-88810067
16 APRT NM_000485.3(APRT):c.400+1G>T SNV Pathogenic 988061 GRCh37: 16:88876477-88876477
GRCh38: 16:88810069-88810069
17 APRT NM_000485.3(APRT):c.398G>A (p.Gly133Asp) SNV Pathogenic 988060 GRCh37: 16:88876480-88876480
GRCh38: 16:88810072-88810072
18 APRT NM_000485.3(APRT):c.380A>G (p.Asp127Gly) SNV Pathogenic 988059 GRCh37: 16:88876498-88876498
GRCh38: 16:88810090-88810090
19 APRT NM_000485.3(APRT):c.371T>G (p.Val124Gly) SNV Pathogenic 988058 GRCh37: 16:88876507-88876507
GRCh38: 16:88810099-88810099
20 APRT NM_000485.3(APRT):c.359G>T (p.Gly120Val) SNV Pathogenic 988057 GRCh37: 16:88876519-88876519
GRCh38: 16:88810111-88810111
21 APRT NM_000485.3(APRT):c.352G>C (p.Glu118Gln) SNV Pathogenic 988056 GRCh37: 16:88876526-88876526
GRCh38: 16:88810118-88810118
22 APRT NM_000485.3(APRT):c.334A>T (p.Ile112Phe) SNV Pathogenic 988055 GRCh37: 16:88876544-88876544
GRCh38: 16:88810136-88810136
23 APRT NM_000485.3(APRT):c.311A>G (p.Glu104Gly) SNV Pathogenic 988054 GRCh37: 16:88876841-88876841
GRCh38: 16:88810433-88810433
24 APRT NM_000485.3(APRT):c.286_287del (p.Thr96fs) Deletion Pathogenic 988052 GRCh37: 16:88876865-88876866
GRCh38: 16:88810457-88810458
25 APRT NM_000485.3(APRT):c.280_286del (p.Gly94fs) Deletion Pathogenic 988051 GRCh37: 16:88876866-88876872
GRCh38: 16:88810458-88810464
26 APRT NM_000485.3(APRT):c.264G>T (p.Lys88Asn) SNV Pathogenic 988050 GRCh37: 16:88876888-88876888
GRCh38: 16:88810480-88810480
27 APRT NM_000485.3(APRT):c.259C>T (p.Arg87Ter) SNV Pathogenic 988049 GRCh37: 16:88876893-88876893
GRCh38: 16:88810485-88810485
28 APRT NM_000485.3(APRT):c.250G>A (p.Val84Met) SNV Pathogenic 988048 GRCh37: 16:88876902-88876902
GRCh38: 16:88810494-88810494
29 APRT NM_000485.3(APRT):c.227C>T (p.Ala76Val) SNV Pathogenic 988047 GRCh37: 16:88876925-88876925
GRCh38: 16:88810517-88810517
30 APRT NM_000485.3(APRT):c.200G>A (p.Arg67Gln) SNV Pathogenic 988046 GRCh37: 16:88876952-88876952
GRCh38: 16:88810544-88810544
31 APRT NM_000485.3(APRT):c.199C>T (p.Arg67Ter) SNV Pathogenic 988045 GRCh37: 16:88876953-88876953
GRCh38: 16:88810545-88810545
32 APRT NM_000485.3(APRT):c.188G>A (p.Gly63Asp) SNV Pathogenic 988044 GRCh37: 16:88876964-88876964
GRCh38: 16:88810556-88810556
33 APRT NM_000485.3(APRT):c.188-145_296del Deletion Pathogenic 988043 GRCh37: 16:88876856-88877109
GRCh38: 16:88810448-88810701
34 APRT NM_000485.3(APRT):c.188-3C>G SNV Pathogenic 988042 GRCh37: 16:88876967-88876967
GRCh38: 16:88810559-88810559
35 APRT NM_000485.3(APRT):c.184_187+22del Deletion Pathogenic 988041 GRCh37: 16:88877936-88877961
GRCh38: 16:88811528-88811553
36 APRT NM_000485.3(APRT):c.180_181insT (p.Ile61fs) Insertion Pathogenic 988040 GRCh37: 16:88877964-88877965
GRCh38: 16:88811556-88811557
37 APRT NM_000485.3(APRT):c.160C>G (p.His54Asp) SNV Pathogenic 988039 GRCh37: 16:88877985-88877985
GRCh38: 16:88811577-88811577
38 APRT NM_000485.3(APRT):c.119G>C (p.Arg40Pro) SNV Pathogenic 988038 GRCh37: 16:88878026-88878026
GRCh38: 16:88811618-88811618
39 APRT NM_000485.3(APRT):c.98T>C (p.Leu33Pro) SNV Pathogenic 988037 GRCh37: 16:88878047-88878047
GRCh38: 16:88811639-88811639
40 APRT NM_000485.3(APRT):c.510del (p.Val171fs) Deletion Pathogenic 988070 GRCh37: 16:88876139-88876139
GRCh38: 16:88809731-88809731
41 APRT NM_000485.3(APRT):c.491G>A (p.Gly164Asp) SNV Pathogenic 988069 GRCh37: 16:88876158-88876158
GRCh38: 16:88809750-88809750
42 APRT NM_000485.3(APRT):c.472_474del (p.Glu158del) Deletion Pathogenic 988068 GRCh37: 16:88876175-88876177
GRCh38: 16:88809767-88809769
43 APRT NM_000485.3(APRT):c.461_462del (p.Val154fs) Deletion Pathogenic 988067 GRCh37: 16:88876187-88876188
GRCh38: 16:88809779-88809780
44 APRT NM_000485.3(APRT):c.457T>C (p.Cys153Arg) SNV Pathogenic 988066 GRCh37: 16:88876192-88876192
GRCh38: 16:88809784-88809784
45 APRT NM_000485.3(APRT):c.439C>T (p.Gln147Ter) SNV Pathogenic 988065 GRCh37: 16:88876210-88876210
GRCh38: 16:88809802-88809802
46 APRT NM_000485.3(APRT):c.428T>C (p.Leu143Pro) SNV Pathogenic 988064 GRCh37: 16:88876221-88876221
GRCh38: 16:88809813-88809813
47 APRT NM_000485.3(APRT):c.518_520TCT[1] (p.Phe174del) Microsatellite Pathogenic 18294 rs121912681 GRCh37: 16:88876126-88876128
GRCh38: 16:88809718-88809720
48 APRT NM_000485.3(APRT):c.448G>T (p.Val150Phe) SNV Pathogenic 41012 rs281860266 GRCh37: 16:88876201-88876201
GRCh38: 16:88809793-88809793
49 APRT NM_000485.3(APRT):c.407T>C (p.Met136Thr) SNV Pathogenic 18296 rs28999113 GRCh37: 16:88876242-88876242
GRCh38: 16:88809834-88809834
50 APRT NM_000485.3(APRT):c.294G>A (p.Trp98Ter) SNV Pathogenic 18298 rs104894507 GRCh37: 16:88876858-88876858
GRCh38: 16:88810450-88810450

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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