MCID: ADN024
MIFTS: 51

Adenine Phosphoribosyltransferase Deficiency malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories
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Summaries for Adenine Phosphoribosyltransferase Deficiency

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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 based summary: Adenine Phosphoribosyltransferase Deficiency, also known as aprt deficiency, is related to nephrolithiasis and gout, 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 nucleotide salvage. The compounds 6-thiouric acid and tiazofurin have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and t cells, and related mouse phenotypes are integument and renal/urinary system.

Wikipedia:65 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

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Adenine Phosphoribosyltransferase Deficiency, Aliases & Descriptions:

Name: Adenine Phosphoribosyltransferase Deficiency 19 42 20 21 46 48
Aprt Deficiency 19 21 48
2,8-Dihydroxyadenine Urolithiasis 21 48
Dha Crystalline Nephropathy 21 62
 
2,8-Dihydroxyadeninuria 19 21
Adenine Phosphoribosyl Transferase Deficiency 62
Deficiency of Amp Pyrophorylase 62


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 614723
ICD10 via Orphanet26 E79.8

Related Diseases for Adenine Phosphoribosyltransferase Deficiency

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



Diseases related to adenine phosphoribosyltransferase deficiency

Symptoms for Adenine Phosphoribosyltransferase Deficiency

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Symptoms by clinical synopsis from OMIM:

614723

Clinical features from OMIM:

614723

Symptoms:

48 (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

HPO human phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

(show all 8)
id Description Frequency HPO Source Accession
1 nephrolithiasis hallmark (90%) HP:0000787
2 nephropathy typical (50%) HP:0000112
3 hematuria typical (50%) HP:0000790
4 recurrent urinary tract infections occasional (7.5%) HP:0000010
5 renal insufficiency occasional (7.5%) HP:0000083
6 autosomal recessive inheritance HP:0000007
7 renal insufficiency HP:0000083
8 nephrolithiasis HP:0000787

Drugs & Therapeutics for Adenine Phosphoribosyltransferase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Adenine Phosphoribosyltransferase Deficiency

Search NIH Clinical Center for Adenine Phosphoribosyltransferase Deficiency

Genetic Tests for Adenine Phosphoribosyltransferase Deficiency

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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

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MalaCards organs/tissues related to Adenine Phosphoribosyltransferase Deficiency:

32
Kidney, Testes, T cells

Animal Models for Adenine Phosphoribosyltransferase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

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

Publications for Adenine Phosphoribosyltransferase Deficiency

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Articles related to Adenine Phosphoribosyltransferase Deficiency:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. (24459232)
2014
2
Adenine phosphoribosyltransferase deficiency. (22700886)
2012
3
Adenine phosphoribosyltransferase deficiency in children. (22212387)
2012
4
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. (23430916)
2012
5
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. (21749366)
2011
6
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. (20150536)
2010
7
Adenine phosphoribosyltransferase deficiency in a Chinese man with early-onset gout. (19435978)
2009
8
Adenine phosphoribosyltransferase deficiency and its purine metabolism]. (18409532)
2008
9
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. (15077874)
2004
10
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. (14767036)
2004
11
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. (15278765)
2004
12
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. (11532677)
2001
13
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. (11325702)
2001
14
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. (9510404)
1998
15
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. (9689017)
1998
16
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
17
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. (8864750)
1996
18
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. (8643571)
1996
19
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. (8863589)
1996
20
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. (8503153)
1993
21
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
22
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. (8447714)
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
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method. (1777979)
1991
29
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. (1986109)
1991
30
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency. (1977137)
1990
31
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. (2227934)
1990
32
Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]. (2255060)
1990
33
Re: Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman. (2804578)
1989
34
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. (3193517)
1988
35
Adenine phosphoribosyltransferase deficiency: a simple diagnostic test. (3409638)
1988
36
Adenine phosphoribosyltransferase deficiency in Iceland. (3207073)
1988
37
Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman. (3219508)
1988
38
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. (3343350)
1988
39
New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency. (3181231)
1988
40
Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals. (3116337)
1987
41
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
42
Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT. (2440671)
1987
43
Adenine phosphoribosyltransferase deficiency in cultured mouse mammary tumor FM3A cells resistant to 4-carbamoylimidazolium 5-olate. (7105014)
1982
44
Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis. (731641)
1978
45
Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy. (857624)
1977
46
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease. (1061547)
1975
47
Adenine phosphoribosyltransferase deficiency in a female with gout. (4791205)
1973
48
Adenine phosphoribosyltransferase deficiency in man. Report of a second family. (4749203)
1973
49
Adenine phosphoribosyltransferase deficiency: report of a second family. (4791204)
1973
50
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. (5676523)
1968

Variations for Adenine Phosphoribosyltransferase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Adenine Phosphoribosyltransferase Deficiency:

64
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

Clinvar genetic disease variations for Adenine Phosphoribosyltransferase Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1APRTNM_000485.2(APRT): c.321+2dupTduplicationPathogenicrs281860263GRCh37Chr 16, 88876828: 88876829
2APRTNM_000485.2(APRT): c.407T> C (p.Met136Thr)single nucleotide variantPathogenicrs28999113GRCh37Chr 16, 88876242: 88876242
3APRTNM_000485.2(APRT): c.194A> T (p.Asp65Val)single nucleotide variantPathogenicrs104894506GRCh37Chr 16, 88876958: 88876958
4APRTNM_000485.2(APRT): c.294G> A (p.Trp98Ter)single nucleotide variantPathogenicrs104894507GRCh37Chr 16, 88876858: 88876858
5APRTNM_000485.2(APRT): c.258_261dupCCGA (p.Lys88Profs)duplicationPathogenicrs281860265GRCh37Chr 16, 88876891: 88876894
6APRTNM_000485.2(APRT): c.448G> T (p.Val150Phe)single nucleotide variantPathogenicrs281860266GRCh37Chr 16, 88876201: 88876201

Expression for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

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Expression patterns in normal tissues for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

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Pathways for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1HPRT1, XDH
2
Show member pathways
guanosine nucleotides de novo biosynthesis37
guanosine ribonucleotides de novo biosynthesis37
adenosine ribonucleotides de novo biosynthesis37
purine nucleotides de novo biosynthesis37
9.0APRT, HPRT1
3
Show member pathways
8.5HPRT1, APRT, XDH
4
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism60
purine deoxyribonucleosides salvage37
8.5HPRT1, APRT, XDH
5
Show member pathways
purine deoxyribonucleosides degradation37
purine nucleotides degradation37
adenine and adenosine salvage II37
adenine and adenosine salvage III37
oxidized GTP and dGTP detoxification37
urate biosynthesis/inosine 5-phosphate degradation37
adenine and adenosine salvage I37
purine ribonucleosides degradation to ribose-1-phosphate37
inosine-5-phosphate biosynthesis37
guanosine nucleotides degradation37
guanine and guanosine salvage37
adenosine nucleotides degradation37
5-aminoimidazole ribonucleotide biosynthesis37
8.5HPRT1, APRT, XDH

Compounds for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 2BitterDB
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Compounds related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
16-thiouric acid449.5XDH, HPRT1
2tiazofurin449.5HPRT1, XDH
3mercaptopurine50 1110.5XDH, HPRT1
4didanosine44 50 1111.5HPRT1, XDH
5thiopurine449.4XDH, HPRT1
66 mercaptopurine449.4HPRT1, XDH
7ethyl methanesulfonate449.4APRT, HPRT1
8Phosphoribosyl pyrophosphate249.4APRT, HPRT1
92-amino-3-methylimidazo(4,5-f)quinoline449.4APRT, HPRT1
10acetaldehyde28 44 2411.4XDH, HPRT1
11bpde449.4HPRT1, APRT
12mitomycin c449.3HPRT1, XDH
13prpp449.3APRT, HPRT1
14phip449.3APRT, HPRT1
15azathioprine44 2 50 1112.3XDH, HPRT1
16inosine monophosphate449.3HPRT1, APRT
17benzo(a)pyrene449.3HPRT1, APRT
18dmso449.2HPRT1, XDH
19nucleoside449.2HPRT1, APRT
20Guanosine monophosphate249.1APRT, HPRT1
21Adenosine monophosphate24 1110.0HPRT1, APRT
22pyrophosphate44 2410.0HPRT1, APRT
23phosphoric acid44 249.9APRT, HPRT1
242,8-dihydroxyadenine448.9HPRT1, APRT, XDH
25allopurinol44 50 1110.9XDH, APRT, HPRT1
26purine nucleoside448.9HPRT1, APRT, XDH
27inosine44 249.9XDH, APRT, HPRT1
28hypoxanthine44 24 1110.9HPRT1, APRT, XDH
29xanthine44 249.9HPRT1, APRT, XDH
30uric acid44 249.9XDH, APRT, HPRT1
31purine44 249.9HPRT1, APRT, XDH
32adenine44 24 1110.9HPRT1, APRT, XDH
33guanine44 24 1110.9HPRT1, APRT, XDH
34ascorbic acid44 249.8HPRT1, XDH
35h2o2448.8HPRT1, APRT, XDH

GO Terms for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

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Cellular components related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5HPRT1, APRT, XDH

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:0075959.0XDH, APRT
5grooming behaviorGO:0076258.9HPRT1, APRT
6purine nucleobase metabolic processGO:0061448.7HPRT1, APRT, XDH
7nucleobase-containing small molecule metabolic processGO:0550868.7HPRT1, APRT, XDH
8small molecule metabolic processGO:0442818.5HPRT1, APRT, XDH

Products for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Adenine Phosphoribosyltransferase Deficiency

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet