MCID: ADN024
MIFTS: 43

Adenine Phosphoribosyltransferase Deficiency malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories

Aliases & Classifications for Adenine Phosphoribosyltransferase Deficiency

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Aliases & Descriptions for Adenine Phosphoribosyltransferase Deficiency:

Name: Adenine Phosphoribosyltransferase Deficiency 49 11 21 45 23 51 65 67
Aprt Deficiency 21 22 23 51 67
2,8-Dihydroxyadenine Urolithiasis 23 51 65 67
2,8-Dihydroxyadeninuria 21 22 23
Adenine Phosphoribosyltransferase 11 22
 
Dha Crystalline Nephropathy 23
Nephrolithiasis Dha 67
Urolithiasis Dha 67
Aprtd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
adenine phosphoribosyltransferase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000,1-9/100000 (Japan),1-9/100000 (Iceland); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM49 614723
Orphanet51 976
ICD10 via Orphanet28 E79.8
MeSH36 D011686

Summaries for Adenine Phosphoribosyltransferase Deficiency

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OMIM:49 APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine... (614723) more...

MalaCards based summary: Adenine Phosphoribosyltransferase Deficiency, also known as aprt deficiency, is related to gout and lesch-nyhan syndrome, and has symptoms including nephrolithiasis, nephropathy and hematuria. An important gene associated with Adenine Phosphoribosyltransferase Deficiency is APRT (Adenine Phosphoribosyltransferase), and among its related pathways are Porphyrin and chlorophyll metabolism and purine nucleotides de novo biosynthesis. Affiliated tissues include kidney, t cells and testes, and related mouse phenotypes are integument and renal/urinary system.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Adenine phosphoribosyltransferase deficiency: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.

GeneReviews summary for aprt-def

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:

 51 (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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Drugs for Adenine Phosphoribosyltransferase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1NoniNutraceutical8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
2Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
3Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395

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 Deficiency22 APRT

Anatomical Context for Adenine Phosphoribosyltransferase Deficiency

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MalaCards organs/tissues related to Adenine Phosphoribosyltransferase Deficiency:

33
Kidney, T cells, Testes

Animal Models for Adenine Phosphoribosyltransferase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5APRT, HPRT1, XDH
2MP:00053678.2APRT, HPRT1, XDH

Publications for Adenine Phosphoribosyltransferase Deficiency

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Articles related to Adenine Phosphoribosyltransferase Deficiency:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Adenine phosphoribosyltransferase deficiency as a cause of renal failure. (25900388)
2015
2
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. (24459232)
2014
3
Adenine phosphoribosyltransferase deficiency. (22700886)
2012
4
Adenine phosphoribosyltransferase deficiency in children. (22212387)
2012
5
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. (23430916)
2012
6
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. (21749366)
2011
7
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. (20101413)
2010
8
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. (20150536)
2010
9
Adenine phosphoribosyltransferase deficiency in a Chinese man with early-onset gout. (19435978)
2009
10
Adenine phosphoribosyltransferase deficiency and its purine metabolism]. (18409532)
2008
11
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. (15077874)
2004
12
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. (14767036)
2004
13
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. (15278765)
2004
14
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. (11532677)
2001
15
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. (11325702)
2001
16
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. (9510404)
1998
17
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. (9689017)
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
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. (8643571)
1996
21
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. (8863589)
1996
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
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. (8447714)
1993
25
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. (1353080)
1992
26
Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. (1307610)
1992
27
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. (1985452)
1991
28
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
29
Mutational basis of adenine phosphoribosyltransferase deficiency. (1781410)
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:

67
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:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1APRTNM_000485.2(APRT): c.517_519delTTC (p.Phe174del)deletionPathogenicrs121912681GRCh37Chr 16, 88876130: 88876132
2APRTNM_000485.2(APRT): c.321+2dupTduplicationPathogenicrs281860263GRCh37Chr 16, 88876829: 88876829
3APRTNM_000485.2(APRT): c.407T> C (p.Met136Thr)single nucleotide variantPathogenicrs28999113GRCh37Chr 16, 88876242: 88876242
4APRTNM_000485.2(APRT): c.194A> T (p.Asp65Val)single nucleotide variantPathogenicrs104894506GRCh37Chr 16, 88876958: 88876958
5APRTNM_000485.2(APRT): c.294G> A (p.Trp98Ter)single nucleotide variantPathogenicrs104894507GRCh37Chr 16, 88876858: 88876858
6APRTNM_000485.2(APRT): c.258_261dupCCGA (p.Lys88Profs)duplicationPathogenicrs281860265GRCh37Chr 16, 88876891: 88876894
7APRTNM_000485.2(APRT): c.329T> C (p.Leu110Pro)single nucleotide variantPathogenicrs104894508GRCh37Chr 16, 88876549: 88876549
8APRTAPRT, 254-BP DEL AND 8-BP INSindelPathogenic
9APRTNM_000485.2(APRT): c.542G> C (p.Ter181Ser)single nucleotide variantPathogenicrs387906584GRCh37Chr 16, 88876107: 88876107
10APRTNM_000485.2(APRT): c.400+2dupTduplicationPathogenicrs745594160GRCh38Chr 16, 88810068: 88810068
11APRTNM_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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Search GEO for disease gene expression data for Adenine Phosphoribosyltransferase Deficiency.

Pathways for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

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Pathways related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1HPRT1, XDH
2
Show member pathways
9.0APRT, HPRT1
3
Pyrimidine metabolism (KEGG)
Show member pathways
8.5APRT, HPRT1
4
Show member pathways
8.5APRT, HPRT1, XDH

GO Terms for genes affiliated with Adenine Phosphoribosyltransferase Deficiency

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Biological processes related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1purine ribonucleoside salvageGO:00061669.7APRT, HPRT1
2adenine salvageGO:00061689.7APRT, HPRT1
3lactationGO:00075959.6APRT, XDH
4nucleoside metabolic processGO:00091169.6APRT, HPRT1
5purine-containing compound salvageGO:00431019.4APRT, HPRT1
6grooming behaviorGO:00076259.3APRT, HPRT1
7purine nucleobase metabolic processGO:00061448.9APRT, HPRT1, XDH
8small molecule metabolic processGO:00442818.5APRT, HPRT1, XDH
9nucleobase-containing small molecule metabolic processGO:00550868.4APRT, HPRT1, XDH

Sources for Adenine Phosphoribosyltransferase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet