MCID: ADN024
MIFTS: 52

Adenine Phosphoribosyltransferase Deficiency malady

Nephrological diseases, Metabolic diseases categories

Summaries for Adenine Phosphoribosyltransferase Deficiency

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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, hematuria/microhematuria and recurrent urinary infections. 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, t cells and testes, and related mouse phenotypes are integument and renal/urinary system.

Wikipedia:63 Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine... more...

Description from OMIM:46 614723

GeneReviews summary for aprt-def

Aliases & Classifications for Adenine Phosphoribosyltransferase Deficiency

About this section
Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
adenine phosphoribosyltransferase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

adenine phosphoribosyltransferase deficiency 19 42 20 21 46 48
aprt deficiency 19 21 48
2,8-dihydroxyadenine urolithiasis 21 48
2,8-dihydroxyadeninuria 19 21
deficiency of amp pyrophorylase 60
dha crystalline nephropathy 21


External Ids:

OMIM46 614723
ICD10 via Orphanet26 E79.8

Related Diseases for Adenine Phosphoribosyltransferase Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Adenine Phosphoribosyltransferase Deficiency:



Diseases related to adenine phosphoribosyltransferase deficiency

Clinical Features for Adenine Phosphoribosyltransferase Deficiency

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

614723

Clinical synopsis from OMIM:

614723

Symptoms:

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

Drugs & Therapeutics for Adenine Phosphoribosyltransferase Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Adenine Phosphoribosyltransferase Deficiency:

id Genetic test Affiliating Genes
1 Adenine Phosphoribosyltransferase Deficiency20 APRT

Anatomical Context for Adenine Phosphoribosyltransferase Deficiency

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Adenine Phosphoribosyltransferase Deficiency:

32
Kidney, T cells, Testes

Animal Models for Adenine Phosphoribosyltransferase Deficiency or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5HPRT1, XDH, APRT
2MP:00053678.2HPRT1, XDH, APRT

Publications for Adenine Phosphoribosyltransferase Deficiency

About this section
Sources:
50PubMed
See all sources

Articles related to Adenine Phosphoribosyltransferase Deficiency:

(show top 50)    (show all 70)
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
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. (21635362)
2011
5
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. (21749366)
2011
6
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. (20101413)
2010
7
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. (20150536)
2010
8
Adenine phosphoribosyltransferase deficiency in a Chinese man with early-onset gout. (19435978)
2009
9
Adenine phosphoribosyltransferase deficiency and its purine metabolism]. (18409532)
2008
10
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. (15077874)
2004
11
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. (14767036)
2004
12
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. (15278765)
2004
13
Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system. (11138609)
2000
14
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. (9689017)
1998
15
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
16
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. (8864750)
1996
17
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. (8643571)
1996
18
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. (8863589)
1996
19
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. (8825602)
1995
20
A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination]. (7815752)
1994
21
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. (8503153)
1993
22
Adenine Phosphoribosyltransferase Deficiency (22934314)
1993
23
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. (1353080)
1992
24
Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. (1307610)
1992
25
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. (1985452)
1991
26
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
27
Mutational basis of adenine phosphoribosyltransferase deficiency. (1781410)
1991
28
Disturbance in the metabolism of 5'-methylthioadenosine and adenine in patients with neoplastic diseases, and in those with a deficiency in adenine phosphoribosyltransferase. (1895956)
1991
29
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method. (1777979)
1991
30
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. (1986109)
1991
31
Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity. (2155755)
1990
32
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency. (1977137)
1990
33
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. (2227934)
1990
34
A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase]. (2408267)
1990
35
Re: Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman. (2804578)
1989
36
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
37
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. (3193517)
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
Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals. (3116337)
1987
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

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Adenine Phosphoribosyltransferase Deficiency:

62
id Symbol AA change Variation ID 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

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome, 12EMD Millipore
See all sources

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

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 2BitterDB
See all sources

Compounds related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
16-thiouric acid449.5HPRT1, XDH
2tiazofurin449.5HPRT1, XDH
3mercaptopurine49 1110.5XDH, HPRT1
4thiopurine449.4XDH, HPRT1
56 mercaptopurine449.4HPRT1, XDH
6Alpha-Phosphoribosylpyrophosphoric Acid119.4HPRT1, APRT
7ethyl methanesulfonate449.4HPRT1, APRT
8acetaldehyde44 28 2411.4XDH, HPRT1
92-amino-3-methylimidazo(4,5-f)quinoline449.4HPRT1, APRT
10bpde449.3HPRT1, APRT
11prpp449.3APRT, HPRT1
12mitomycin c449.3HPRT1, XDH
13phip449.3APRT, HPRT1
14inosine monophosphate449.3HPRT1, APRT
15azathioprine44 49 2 1112.3XDH, HPRT1
16benzo(a)pyrene449.2HPRT1, APRT
17dmso449.2XDH, HPRT1
18nucleoside449.1HPRT1, APRT
19Adenosine monophosphate11 2410.0HPRT1, APRT
20pyrophosphate44 2410.0HPRT1, APRT
21phosphoric acid44 249.9HPRT1, APRT
222,8-dihydroxyadenine448.9HPRT1, XDH, APRT
23purine nucleoside448.9APRT, XDH, HPRT1
24allopurinol44 49 1110.9HPRT1, XDH, APRT
25inosine44 249.9APRT, XDH, HPRT1
26hypoxanthine44 11 2410.9HPRT1, XDH, APRT
27xanthine44 249.9HPRT1, XDH, APRT
28uric acid44 249.9APRT, XDH, HPRT1
29purine44 249.9HPRT1, XDH, APRT
30adenine44 11 2410.9APRT, XDH, HPRT1
31guanine44 11 2410.9HPRT1, XDH, APRT
32ascorbic acid44 249.8HPRT1, XDH
33h2o2448.7HPRT1, XDH, APRT

GO Terms for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adenine Phosphoribosyltransferase Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet