MCID: ADN024
MIFTS: 42

Adenine Phosphoribosyltransferase Deficiency malady

Nephrological, Metabolic categories

Summaries for Adenine Phosphoribosyltransferase Deficiency

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine.

MalaCards: Adenine Phosphoribosyltransferase Deficiency, also known as aprt deficiency, is related to gout and nephrolithiasis, and has symptoms including urinary/renal lithiasis/kidney stones/nephritic colic, autosomal recessive inheritance and renal disease/nephropathy. An important gene associated with Adenine Phosphoribosyltransferase Deficiency is APRT (adenine phosphoribosyltransferase), and among its related pathways are Glucuronidation and Purine metabolism. The compounds 6-thiouric acid and tiazofurin have been mentioned in the context of this disorder. Affiliated tissues include kidney and t cells, and related mouse phenotypes are integument and renal/urinary system.

Wikipedia:64 Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine... more...

Description from OMIM:47 614723

GeneReviews summary for aprt-def

Aliases & Classifications for Adenine Phosphoribosyltransferase Deficiency

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological, Metabolic


Characteristics (Orphanet epidemiological data):

49
adenine phosphoribosyltransferase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

adenine phosphoribosyltransferase deficiency 19 43 20 21 47 49
aprt deficiency 19 21 49
2,8-dihydroxyadenine urolithiasis 21 49
2,8-dihydroxyadeninuria 19 21
deficiency of amp pyrophorylase 61
dha crystalline nephropathy 21


External Ids:

OMIM47 614723
ICD10 via Orphanet26 E79.8

Related Diseases for Adenine Phosphoribosyltransferase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Adenine Phosphoribosyltransferase Deficiency:



Diseases related to adenine phosphoribosyltransferase deficiency

Clinical Features for Adenine Phosphoribosyltransferase Deficiency

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

614723

Clinical synopsis from OMIM:

614723

Symptoms:

49 (show all 7)
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • autosomal recessive inheritance
  • renal disease/nephropathy
  • hematuria/microhematuria
  • renal failure
  • recurrent urinary infections
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria

Drugs & Therapeutics for Adenine Phosphoribosyltransferase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Adenine Phosphoribosyltransferase Deficiency

Drug clinical trials:

Search ClinicalTrials for Adenine Phosphoribosyltransferase Deficiency

Search NIH Clinical Center for Adenine Phosphoribosyltransferase Deficiency

Search CenterWatch for Adenine Phosphoribosyltransferase Deficiency

Genetic Tests for Adenine Phosphoribosyltransferase Deficiency

Sources:
20GeneTests
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Genetic tests related to Adenine Phosphoribosyltransferase Deficiency:

id Genetic test Affiliating Genes
1 Adenine Phosphoribosyltransferase Deficiency20 APRT

Anatomical Context for Adenine Phosphoribosyltransferase Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Adenine Phosphoribosyltransferase Deficiency:

33
Kidney, T cells

Animal Models for Adenine Phosphoribosyltransferase Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5HPRT1, XDH, APRT
2MP:00053678.2HPRT1, XDH, APRT

Publications for Adenine Phosphoribosyltransferase Deficiency

Sources:
51PubMed
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Articles related to Adenine Phosphoribosyltransferase Deficiency:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Adenine phosphoribosyltransferase deficiency. (22700886)
2012
2
Adenine phosphoribosyltransferase deficiency in children. (22212387)
2012
3
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. (23430916)
2012
4
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. (21749366)
2011
5
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. (20101413)
2010
6
Adenine phosphoribosyltransferase deficiency and its purine metabolism]. (18409532)
2008
7
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. (14767036)
2004
8
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. (15278765)
2004
9
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. (11532677)
2001
10
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. (11325702)
2001
11
Induced activity of adenine phosphoribosyltransferase (APRT) in iron-deficiency barley roots: a possible role for phytosiderophore production. (10937693)
2000
12
Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system. (11138609)
2000
13
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. (10479485)
1999
14
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. (9510404)
1998
15
2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report]. (9850838)
1998
16
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. (9689017)
1998
17
Adenine phosphoribosyltransferase (APRT) deficiency]. (9590102)
1998
18
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
19
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. (8864750)
1996
20
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. (8863589)
1996
21
A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination]. (7815752)
1994
22
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. (8503153)
1993
23
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
24
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. (1353080)
1992
25
Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. (1307610)
1992
26
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. (1985452)
1991
27
Mutational basis of adenine phosphoribosyltransferase deficiency. (1781410)
1991
28
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method. (1777979)
1991
29
Two cases of 2.8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase]. (1767776)
1991
30
Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity. (2155755)
1990
31
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency. (1977137)
1990
32
A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase]. (2408267)
1990
33
Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]. (2255060)
1990
34
Re: Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman. (2804578)
1989
35
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage. (2502918)
1989
36
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. (3193517)
1988
37
Adenine phosphoribosyltransferase deficiency: a simple diagnostic test. (3409638)
1988
38
Adenine phosphoribosyltransferase deficiency in Iceland. (3207073)
1988
39
Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman. (3219508)
1988
40
New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency. (3181231)
1988
41
Characterization of an adenine phosphoribosyltransferase deficiency. (3370830)
1988
42
Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency. (3610146)
1987
43
Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT. (2440671)
1987
44
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. (3680503)
1987
45
Adenine phosphoribosyltransferase deficiency in cultured mouse mammary tumor FM3A cells resistant to 4-carbamoylimidazolium 5-olate. (7105014)
1982
46
Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy. (857624)
1977
47
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease. (1061547)
1975
48
Adenine phosphoribosyltransferase deficiency in a female with gout. (4791205)
1973
49
Adenine phosphoribosyltransferase deficiency in man. Report of a second family. (4749203)
1973
50
Adenine phosphoribosyltransferase deficiency: report of a second family. (4791204)
1973

Genetic Variations for Adenine Phosphoribosyltransferase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Adenine Phosphoribosyltransferase Deficiency:

63
id Symbol AA change Variation SNP ID
1APRTp.Asp65ValVAR_006747
2APRTp.Leu110ProVAR_006748
3APRTp.Met136ThrVAR_006749rs28999113
4APRTp.Val150PheVAR_022608
5APRTp.Cys153ArgVAR_022609
6APRTp.Leu33ProVAR_069049
7APRTp.Val84MetVAR_069050rs200392753
8APRTp.Gly133AspVAR_069051

Expression for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

Search GEO for disease gene expression data for Adenine Phosphoribosyltransferase Deficiency.

Pathways for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 12EMD Millipore
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Pathways related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1HPRT1, XDH
2
Hide members
8.5HPRT1, XDH, APRT
3
Hide members
8.5HPRT1, XDH, APRT
4
Hide members
8.5APRT, XDH, HPRT1

Compounds for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
16-thiouric acid459.5HPRT1, XDH
2tiazofurin459.5HPRT1, XDH
3mercaptopurine50 1110.5XDH, HPRT1
4thiopurine459.4XDH, HPRT1
56 mercaptopurine459.4HPRT1, XDH
6Alpha-Phosphoribosylpyrophosphoric Acid119.4HPRT1, APRT
7ethyl methanesulfonate459.4HPRT1, APRT
8acetaldehyde45 29 2411.4XDH, HPRT1
92-amino-3-methylimidazo(4,5-f)quinoline459.4HPRT1, APRT
10bpde459.3HPRT1, APRT
11prpp459.3APRT, HPRT1
12mitomycin c459.3HPRT1, XDH
13phip459.3APRT, HPRT1
14inosine monophosphate459.3HPRT1, APRT
15azathioprine45 50 2 1112.3XDH, HPRT1
16benzo(a)pyrene459.2HPRT1, APRT
17dmso459.2XDH, HPRT1
18nucleoside459.1HPRT1, APRT
19Adenosine monophosphate11 2410.0HPRT1, APRT
20pyrophosphate45 2410.0HPRT1, APRT
21phosphoric acid45 249.9HPRT1, APRT
222,8-dihydroxyadenine458.9HPRT1, XDH, APRT
23purine nucleoside458.9APRT, XDH, HPRT1
24allopurinol45 50 1110.9HPRT1, XDH, APRT
25inosine45 249.9APRT, XDH, HPRT1
26hypoxanthine45 11 2410.9HPRT1, XDH, APRT
27xanthine45 249.9HPRT1, XDH, APRT
28uric acid45 249.9APRT, XDH, HPRT1
29purine45 249.9HPRT1, XDH, APRT
30adenine45 11 2410.9APRT, XDH, HPRT1
31guanine45 11 2410.9HPRT1, XDH, APRT
32ascorbic acid45 249.8HPRT1, XDH
33h2o2458.7HPRT1, XDH, APRT

GO Terms for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

Sources:
16Gene Ontology
See all sources

Biological processes related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1adenine salvageGO:0061689.1HPRT1, APRT
2purine ribonucleoside salvageGO:0061669.1APRT, HPRT1
3purine-containing compound salvageGO:0431019.0HPRT1, APRT
4lactationGO:0075959.0APRT, XDH
5grooming behaviorGO:0076258.9HPRT1, APRT
6purine nucleobase metabolic processGO:0061448.7HPRT1, XDH, APRT
7nucleobase-containing small molecule metabolic processGO:0550868.7HPRT1, XDH, APRT
8small molecule metabolic processGO:0442818.5HPRT1, XDH, APRT

Products for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adenine Phosphoribosyltransferase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet