APRTD
MCID: ADN024
MIFTS: 51

Adenine Phosphoribosyltransferase Deficiency (APRTD) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Adenine Phosphoribosyltransferase Deficiency

Aliases & Descriptions for Adenine Phosphoribosyltransferase Deficiency:

Name: Adenine Phosphoribosyltransferase Deficiency 54 12 23 50 24 25 56 66 29 13 42 14 69
Aprt Deficiency 12 23 24 25 56 66
2,8-Dihydroxyadenine Urolithiasis 12 25 56 66 69
2,8-Dihydroxyadeninuria 23 24 25
Purine-Pyrimidine Metabolism, Inborn Errors 42
Adenine Phosphoribosyltransferase 13
Dha Crystalline Nephropathy 25
Nephrolithiasis Dha 66
Urolithiasis Dha 66
Aprtd 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
adenine phosphoribosyltransferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614723
Disease Ontology 12 DOID:0060350
NCIt 47 C121564
SNOMED-CT 64 11852004 124274002
Orphanet 56 ORPHA976
ICD10 via Orphanet 34 E79.8

Summaries for Adenine Phosphoribosyltransferase Deficiency

OMIM : 54 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 dihydroxyadeninuria and lattice corneal dystrophy type ii, and has symptoms including dysuria, renal insufficiency and hematuria. An important gene associated with Adenine Phosphoribosyltransferase Deficiency is APRT (Adenine Phosphoribosyltransferase), and among its related pathways/superpathways are Purine metabolism (KEGG) and Porphyrin and chlorophyll metabolism. The drugs Allopurinol and Febuxostat have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and testes, and related phenotype is renal/urinary system.

UniProtKB/Swiss-Prot : 66 Adenine phosphoribosyltransferase deficiency: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.

Genetics Home Reference : 25 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.

Disease Ontology : 12 An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern.

Wikipedia : 71 Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine... more...

GeneReviews: NBK100238

Related Diseases for Adenine Phosphoribosyltransferase Deficiency

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



Diseases related to Adenine Phosphoribosyltransferase Deficiency

Symptoms & Phenotypes for Adenine Phosphoribosyltransferase Deficiency

Symptoms by clinical synopsis from OMIM:

614723

Clinical features from OMIM:

614723

Human phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysuria 56 32 Occasional (29-5%) HP:0100518
2 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
3 hematuria 56 32 Frequent (79-30%) HP:0000790
4 nephrolithiasis 56 32 Very frequent (99-80%) HP:0000787
5 recurrent urinary tract infections 56 32 Occasional (29-5%) HP:0000010
6 stage 5 chronic kidney disease 56 32 Occasional (29-5%) HP:0003774

MGI Mouse Phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 APRT CLDN16 HPRT1 XDH

Drugs & Therapeutics for Adenine Phosphoribosyltransferase Deficiency

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

(show top 50) (show all 97)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Allopurinol Approved Phase 4,Phase 3,Phase 2,Phase 1 315-30-0 2094
2
Febuxostat Approved Phase 4,Phase 3,Phase 1,Phase 2 144060-53-7 134018
3
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
4
Naproxen Approved, Vet_approved Phase 4,Phase 3,Phase 2 22204-53-1 1302 156391
5
Indomethacin Approved, Investigational Phase 4,Phase 3,Phase 2 53-86-1 3715
6
Diclofenac Approved, Vet_approved Phase 4,Phase 2 15307-86-5 3033
7
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
8
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
9
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
10
Uric Acid Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1 69-93-2 1175
11 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
12 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
13 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
16 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Diacetylrhein Phase 4
18 Analgesics Phase 4,Phase 3,Phase 2
19 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
20 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
21 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2
22 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
23 Cyclooxygenase 2 Inhibitors Phase 4,Phase 3
24 Tocolytic Agents Phase 4,Phase 3,Phase 2
25 Antacids Phase 4,Phase 3,Phase 2
26 Anti-Ulcer Agents Phase 4,Phase 3,Phase 2
27 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
28
Proton pump inhibitors Phase 4,Phase 3,Phase 2
29
Lansoprazole Approved, Investigational Phase 3,Phase 2 103577-45-3 3883
30
Lesinurad Approved Phase 3 878672-00-5 53465279
31
Triamcinolone Approved, Vet_approved Phase 3,Phase 2 124-94-7 31307
32
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
33
Dopamine Approved Phase 3,Phase 1 51-61-6, 62-31-7 681
34
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
35
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
36 Antibodies Phase 3,Phase 2
37 Immunoglobulins Phase 3,Phase 2
38 Psychotropic Drugs Phase 3,Phase 2,Phase 1
39
Dexlansoprazole Phase 3,Phase 2 138530-94-6, 103577-45-3 9578005
40 Renal Agents Phase 3,Phase 1,Phase 2
41 Antibodies, Monoclonal Phase 3,Phase 2
42 glucocorticoids Phase 3,Phase 2
43 Hormone Antagonists Phase 3,Phase 2
44 Hormones Phase 3,Phase 2
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
46 Immunosuppressive Agents Phase 3,Phase 2
47 triamcinolone acetonide Phase 3,Phase 2
48 Triamcinolone diacetate Phase 3,Phase 2
49 Triamcinolone hexacetonide Phase 3,Phase 2
50
Benzbromarone Phase 3,Phase 1,Phase 2 3562-84-3 2333

Interventional clinical trials:

(show top 50) (show all 101)
id Name Status NCT ID Phase
1 Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion Completed NCT02752633 Phase 4
2 Postmarketing Study to Determine Performance of the SIGMA HP® PARTIAL KNEE SYSTEM Completed NCT01529099 Phase 4
3 Immune Molecular and Inflammatory Cytokines Dysfunction Analysis in Gout Patients With Different Urate Levels Completed NCT02060552 Phase 4
4 Colchicine Or Naproxen Treatment for ACute gouT Completed NCT01994226 Phase 4
5 Does Allopurinol Prolong a Treated, Acute Gout Flare? Completed NCT01988402 Phase 4
6 Initiation of Allopurinol at First Medical Contact for Acute Attacks of Gout Completed NCT01310673 Phase 4
7 Efficacy and Safety of Lumiracoxib 400 mg Once Daily in Acute Flares of Gout Completed NCT00170781 Phase 4
8 A Study Evaluating the Effect of Etoricoxib and Indomethacin in the Treatment of Acute Gout (0663-081)(COMPLETED) Completed NCT00142558 Phase 4
9 Gout: Allopurinol vs. Febuxostat Recruiting NCT02579096 Phase 4
10 Intensive Urate Lowering Therapy of Febuxostat Compared to Allopurinol on Cardiovascular Risk in Patients With Gout Active, not recruiting NCT02500641 Phase 4
11 Review of Safety Using Rilonacept in Preventing Gout Exacerbations (RE-SURGE) Completed NCT00856206 Phase 3
12 Study Utilizing Rilonacept in Gout Exacerbations Completed NCT00855920 Phase 3
13 PREventative Study Against URate-lowering Drug-induced Gout Exacerbations 1 Completed NCT00829829 Phase 3
14 PREventative Study Against URate-Lowering Drug-Induced Gout Exacerbations (PRE-SURGE 2) Completed NCT00958438 Phase 3
15 Efficacy and Safety of Extended Release and Immediate Release Febuxostat in Participants With Gout Completed NCT02139046 Phase 3
16 Safety and Efficacy of Oral Febuxostat in Subjects With Gout Completed NCT02082769 Phase 3
17 Lesinurad and Febuxostat Combination Extension Study in Gout Completed NCT01808144 Phase 3
18 A Study to Evaluate Safety and Efficacy of Oral Febuxostat in Patients With Gout Completed NCT01736514 Phase 3
19 Open-Label Lesinurad Monotherapy Extension Study in Gout Completed NCT01650246 Phase 3
20 Combination Treatment Study in Subjects With Tophaceous Gout With Lesinurad and Febuxostat Completed NCT01510769 Phase 3
21 Lesinurad Monotherapy in Gout Subjects Intolerant to Xanthine Oxidase Inhibitors Completed NCT01508702 Phase 3
22 β-RELIEVED - REsponse in Acute fLare and In prEVEntion of episoDes of Re-flare in Gout - Extension 3 (E3) Completed NCT01470989 Phase 3
23 Long-Term Safety and Tolerability of Canakinumab Prefilled Syringes in Frequently Flaring Acute Gouty Arthritis Patients Completed NCT01431638 Phase 3
24 Safety and Efficacy of Canakinumab Prefilled Syringes in Frequently Flaring Acute Gouty Arthritis Patients Completed NCT01356602 Phase 3
25 Open-Label Extension Study for Patients Who Completed a Phase 3 Double-blind Study of PEG-uricase for Symptomatic Gout Completed NCT01356498 Phase 3
26 Canakinumab in the Treatment of Acute Gout Flares and Prevention of New Flares in Patients Unable to Use Non-steroidal Anti-inflammatory Drugs (NSAIDs) and/or Colchicines Including a 12 Week Extension and a 1 Year Open-label Extension Study. Completed NCT01080131 Phase 3
27 Canakinumab in the Treatment of Acute Gout Flares and Prevention of New Flares in Patients Unable to Use Non-steroidal Anti-inflammatory Drugs (NSAIDs) and/or Colchicine Including a 12 Weeks Extension and an Open-label 48 Weeks Extension Study Completed NCT01029652 Phase 3
28 Phase III Trial of Febuxostat in Korea Gout Patients Completed NCT00821392 Phase 3
29 Re-exposure Study of Pegloticase Intravenous (i.v.) in Symptomatic Gout Patients Completed NCT00675103 Phase 3
30 Celebrex In Acute Gouty Arthritis Study Completed NCT00549549 Phase 3
31 MPC-004 for the Treatment of an Acute Gout Flare Completed NCT00506883 Phase 3
32 Efficacy and Safety of Oral Febuxostat in Participants With Gout Completed NCT00430248 Phase 3
33 Safety and Efficacy Study of PEG-uricase in the Treatment of Hyperuricemic Patients With Symptomatic Gout Completed NCT00325195 Phase 3
34 Phase 3, Febuxostat, Allopurinol and Placebo-Controlled Study in Gout Subjects. Completed NCT00174915 Phase 3
35 Febuxostat Versus Allopurinol Control Trial in Subjects With Gout Completed NCT00102440 Phase 3
36 Benzbromarone-Controlled, Double-Blind, Comparative Study of FYU-981 in Hyperuricemia With or Without Gout Recruiting NCT03100318 Phase 3
37 Study of FYU-981 in Hyperuricemia With or Without Gout Recruiting NCT03006445 Phase 3
38 Anakinra vs. Steroids for the Treatment of Gout Attacks in Patients With Renal Disease (ASGARD): A Feasibility Study Recruiting NCT02578394 Phase 2, Phase 3
39 Efficacy and Safety of HuZhen Capsule for Treatment of Patients With Acute Gout Active, not recruiting NCT02674776 Phase 3
40 Study of the Safety and Efficacy of Long-Term Rilonacept Treatment for the Prevention of Gout Flares Terminated NCT01459796 Phase 3
41 Safety & Efficacy of Canakinumab (ACZ885) in Patients With Frequent Flares for Whom Nonsterodial Anti-Inflammatory Drug (NSAIDs) and/ or Colchicine Are Contraindicated, Not Tolerated or Ineffective Terminated NCT01362608 Phase 3
42 Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Terminated NCT01751802 Phase 3
43 Trial of Kuvan in Lesch-Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3
44 Canakinumab in the Treatment of Gouty Arthritis Flare(s) and Prevention of New Flares in Patients With Chronic Kidney Disease Withdrawn NCT01593527 Phase 3
45 Study of Levotofisopam 50 mg Three Times a Day (TID) Administered for 7 Days on Hyperuricemia and Gout Unknown status NCT01519687 Phase 2
46 Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Completed NCT00004314 Phase 2
47 Study of URC102 to Assess the Safety and Efficacy in Gout Patients Completed NCT02557126 Phase 2
48 Phase 2a RDEA3170 and Allopurinol Combination Study in Gout Subjects Completed NCT02498652 Phase 2
49 Bucillamine for the Treatment of Acute Gout Flare in Subjects With Moderate to Severe Gout Completed NCT02330796 Phase 2
50 A PD/Safety Study of RDEA3170 in Combination With Febuxostat for Treating Gout or Asymptomatic Hyperuricemia Patients Completed NCT02317861 Phase 1, Phase 2

Search NIH Clinical Center for Adenine Phosphoribosyltransferase Deficiency

Cochrane evidence based reviews: purine-pyrimidine metabolism, inborn errors

Genetic Tests for Adenine Phosphoribosyltransferase Deficiency

Genetic tests related to Adenine Phosphoribosyltransferase Deficiency:

id Genetic test Affiliating Genes
1 Adenine Phosphoribosyltransferase Deficiency 29 24 APRT

Anatomical Context for Adenine Phosphoribosyltransferase Deficiency

MalaCards organs/tissues related to Adenine Phosphoribosyltransferase Deficiency:

39
Kidney, T Cells, Testes

Publications for Adenine Phosphoribosyltransferase Deficiency

Articles related to Adenine Phosphoribosyltransferase Deficiency:

(show top 50) (show all 64)
id Title Authors Year
1
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis. ( 28466077 )
2017
2
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. ( 26724837 )
2016
3
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria. ( 28509161 )
2016
4
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency. ( 26684317 )
2016
5
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency. ( 27770717 )
2016
6
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey. ( 27994857 )
2016
7
A rare case of primary non-function of renal allograft due to adenine phosphoribosyltransferase deficiency. ( 26253830 )
2015
8
Adenine phosphoribosyltransferase deficiency as a cause of renal failure. ( 25900388 )
2015
9
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. ( 24459232 )
2014
10
Adenine phosphoribosyltransferase deficiency. ( 22700886 )
2012
11
Adenine phosphoribosyltransferase deficiency in children. ( 22212387 )
2012
12
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. ( 23430916 )
2012
13
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. ( 21749366 )
2011
14
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. ( 20150536 )
2010
15
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. ( 20101413 )
2010
16
Adenine phosphoribosyltransferase deficiency in a Chinese man with early-onset gout. ( 19435978 )
2009
17
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]. ( 18409532 )
2008
18
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. ( 14767036 )
2004
19
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. ( 15278765 )
2004
20
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. ( 15077874 )
2004
21
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. ( 11532677 )
2001
22
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. ( 11325702 )
2001
23
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. ( 9689017 )
1998
24
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. ( 9510404 )
1998
25
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
26
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. ( 8643571 )
1996
27
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. ( 8863589 )
1996
28
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. ( 8864750 )
1996
29
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. ( 8825602 )
1995
30
Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency. ( 7912608 )
1994
31
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. ( 8447714 )
1993
32
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. ( 8503153 )
1993
33
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
34
Adenine Phosphoribosyltransferase Deficiency ( 22934314 )
1993
35
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. ( 1307610 )
1992
36
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. ( 1353080 )
1992
37
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. ( 1986109 )
1991
38
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
39
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method. ( 1777979 )
1991
40
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. ( 1985452 )
1991
41
Mutational basis of adenine phosphoribosyltransferase deficiency. ( 1781410 )
1991
42
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency. ( 1977137 )
1990
43
[Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]. ( 2255060 )
1990
44
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. ( 2227934 )
1990
45
Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. ( 2769881 )
1989
46
Re: Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman. ( 2804578 )
1989
47
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. ( 3193517 )
1988
48
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. ( 3343350 )
1988
49
New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency. ( 3181231 )
1988
50
Adenine phosphoribosyltransferase deficiency: a simple diagnostic test. ( 3409638 )
1988

Variations for Adenine Phosphoribosyltransferase Deficiency

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

66
id Symbol AA change Variation ID SNP ID
1 APRT p.Asp65Val VAR_006747 rs104894506
2 APRT p.Leu110Pro VAR_006748 rs104894508
3 APRT p.Met136Thr VAR_006749 rs28999113
4 APRT p.Val150Phe VAR_022608 rs281860266
5 APRT p.Cys153Arg VAR_022609
6 APRT p.Leu33Pro VAR_069049
7 APRT p.Val84Met VAR_069050 rs200392753
8 APRT p.Gly133Asp VAR_069051

ClinVar genetic disease variations for Adenine Phosphoribosyltransferase Deficiency:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 APRT NM_000485.2(APRT): c.517_519delTTC (p.Phe174del) deletion Pathogenic rs121912681 GRCh37 Chromosome 16, 88876130: 88876132
2 APRT NM_000485.2(APRT): c.321+2dupT duplication Pathogenic rs281860263 GRCh37 Chromosome 16, 88876829: 88876829
3 APRT NM_000485.2(APRT): c.407T> C (p.Met136Thr) single nucleotide variant Pathogenic rs28999113 GRCh37 Chromosome 16, 88876242: 88876242
4 APRT NM_000485.2(APRT): c.194A> T (p.Asp65Val) single nucleotide variant Pathogenic rs104894506 GRCh37 Chromosome 16, 88876958: 88876958
5 APRT NM_000485.2(APRT): c.294G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs104894507 GRCh37 Chromosome 16, 88876858: 88876858
6 APRT NM_000485.2(APRT): c.258_261dupCCGA (p.Lys88Profs) duplication Pathogenic rs281860265 GRCh37 Chromosome 16, 88876891: 88876894
7 APRT NM_000485.2(APRT): c.329T> C (p.Leu110Pro) single nucleotide variant Pathogenic rs104894508 GRCh37 Chromosome 16, 88876549: 88876549
8 APRT APRT, 254-BP DEL AND 8-BP INS indel Pathogenic
9 APRT NM_000485.2(APRT): c.542G> C (p.Ter181Ser) single nucleotide variant Pathogenic rs387906584 GRCh37 Chromosome 16, 88876107: 88876107
10 APRT NM_000485.2(APRT): c.448G> T (p.Val150Phe) single nucleotide variant Pathogenic rs281860266 GRCh37 Chromosome 16, 88876201: 88876201
11 APRT NM_000485.2(APRT): c.400+2dupT duplication Pathogenic rs745594160 GRCh38 Chromosome 16, 88810068: 88810068

Expression for Adenine Phosphoribosyltransferase Deficiency

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

Pathways for Adenine Phosphoribosyltransferase Deficiency

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.93 APRT DPYS HPRT1 UMPS XDH
2
Show member pathways
11.89 DPYS HPRT1 UMPS XDH
3
Show member pathways
11.5 DPYS UMPS
4
Show member pathways
11.43 APRT HPRT1
5
Show member pathways
11.36 APRT DPYS HPRT1 UMPS XDH
6 10.69 HPRT1 XDH

GO Terms for Adenine Phosphoribosyltransferase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 protein homotetramerization GO:0051289 9.43 DPYS HPRT1
2 lactation GO:0007595 9.43 APRT UMPS XDH
3 grooming behavior GO:0007625 9.4 APRT HPRT1
4 purine-containing compound salvage GO:0043101 9.37 APRT HPRT1
5 purine ribonucleoside salvage GO:0006166 9.32 APRT HPRT1
6 adenine metabolic process GO:0046083 9.16 APRT HPRT1
7 adenine salvage GO:0006168 8.96 APRT HPRT1
8 nucleoside metabolic process GO:0009116 8.8 APRT HPRT1 UMPS

Molecular functions related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.8 APRT HPRT1 UMPS

Sources for Adenine Phosphoribosyltransferase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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