APRTD
MCID: ADN024
MIFTS: 52

Adenine Phosphoribosyltransferase Deficiency (APRTD)

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

Aliases & Classifications for Adenine Phosphoribosyltransferase Deficiency

MalaCards integrated aliases for Adenine Phosphoribosyltransferase Deficiency:

Name: Adenine Phosphoribosyltransferase Deficiency 56 12 74 24 52 25 58 73 36 29 13 6 43 15 71
Aprt Deficiency 56 12 24 52 25 58 73
2,8-Dihydroxyadenine Urolithiasis 12 52 25 58 73 71
2,8-Dihydroxyadeninuria 24 25
Aprtd 56 73
Purine-Pyrimidine Metabolism, Inborn Errors 43
Urolithiasis, 2,8-Dihydroxyadenine 56
Dha Crystalline Nephropathy 25
Nephrolithiasis, Dha 56
Nephrolithiasis Dha 73
Urolithiasis, Dha 56
Urolithiasis Dha 73

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles
type ii patients are usually japanese and have significant aprt activity (10-25%)
approximately 85% of type ii patients are homozygous for a missense mutation m136t


HPO:

31
adenine phosphoribosyltransferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060350
OMIM 56 614723
KEGG 36 H00195
NCIt 49 C121564
SNOMED-CT 67 11852004
ICD10 via Orphanet 33 E79.8
UMLS via Orphanet 72 C0268120 C3665382
Orphanet 58 ORPHA976
UMLS 71 C0268120 C3665382

Summaries for Adenine Phosphoribosyltransferase Deficiency

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 976 Definition A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. Epidemiology Prevalence is estimated at 1/50,000 to 1/100,000 in Caucasian, 1/27,000 in Japanese and > 1/15,000 in Icelandic populations. Adenine phosphoribosyltransferase deficiency (APRT) deficiency appears to equally affect children and adults, male or female. In Caucasian populations, heterozygous prevalence is estimated between 0.4% and 1.2%. Clinical description Clinical manifestations include symptoms usually associated with urolithiasis. Stones are typically radiolucent. Onset can be between infancy and the 4th decade of life, or sometimes even later. A small portion of patients remain asymptomatic. The disease can present not only as urolithiasis but also as crystalline nephropathy secondary to the precipitation of 2,8-DHA into renal parenchyma (DHA nephropathy). DHA nephropathy occurs most often in patients with repeated misdiagnosed episodes of urolithiasis and progressive worsening of renal function, but it may also present as acute renal failure. Rarely, DHA nephropathy may occur in patients who experienced only a few stone episodes. DHA nephropathy can evolve to end stage renal disease requiring dialysis and transplantation and can recur after transplantation causing rapid loss of graft function if left untreated. Etiology APRT deficiency is an autosomal recessive (AR) disorder caused by mutations in the APRT gene (16q24) encoding the APRT enzyme catalyzing AMP synthesis from adenine and 5'-phosphoribosyl-1-pyrophosphate. Two types of APRT deficiencies have been described, according to APRT activity in vitro ; type I characterized by a total lack of APRT activity, found primarily in Caucasians, and type II, found only in Japan, characterized by a 10-25% APRT activity. This in vitro distinction has no known clinical significance. Diagnostic methods Lack of awareness of APRT deficiency often causes a significant delay between the onset of symptoms and a proper diagnosis. Diagnosis is primarily based on identifying 2,8-DHA by examination of crystals or stones. Crystalluria examination can be used for diagnosis. In DHA nephropathy patients, crystals may also be identified in renal biopsy , although this invasive test is theoretically unnecessary. Crystals and stones should be analyzed by morphologic examination combined with infrared spectrometry and/or x-ray crystallography. Diagnosis can be confirmed by enzyme activity analysis in erythrocyte lysates. Genetic testing may be used for diagnosis but may be useful for familial screening . Differential diagnosis Confusion frequently occurs between 2,8-DHA and uric acid stones, which are typically both radiolucent. Contrary to uric acid, 2,8-DHA stones do not respond to alkali therapy. Differential diagnosis also includes other radiolucent stones, such as cystine, xanthine and drugs. Genetic counseling Genetic counseling is possible but rarely indicated. However, given the AR transmission, siblings of the affected individual, even if they are asymptomatic, should be screened through DNA analysis or APRT activity. Management and treatment To prevent further 2,8-DHA formation, treatment consists of allopurinol daily (usually 10mg/kg per day in children and 300 mg per day in adults) together with a high fluid intake and low purine diet. In cases of acute or chronic renal failure, allopurinol doses should be reduced. Asymptomatic individuals should be treated by allopurinol to prevent renal complications. Febuxostat, another xanthine oxydase inhibitor, may be even more efficacious than allopurinol in reducing DHA excretion. It remains unknown how this translates into improved patient outcomes. Febuxostat should be recommended in allopurinol-intolerant patients and also in rare patients who do not respond well to allopurinol. Prognosis Early diagnosis is the key and prognosis depends on progression of this treatable disorder. Allopurinol therapy effectively prevents stone recurrence and can lead to an improvement or stabilization of renal function in most patients. Stone recurrence and renal complications are rare in patients who remain compliant with allopurinol therapy. Visit the Orphanet disease page for more resources.

MalaCards based summary : Adenine Phosphoribosyltransferase Deficiency, also known as aprt deficiency, is related to disorder of purine metabolism and hereditary xanthinuria. An important gene associated with Adenine Phosphoribosyltransferase Deficiency is APRT (Adenine Phosphoribosyltransferase), and among its related pathways/superpathways are Purine metabolism and Glycine, serine and threonine metabolism. The drugs Febuxostat and Rilonacept have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and t cells, and related phenotypes are nephrolithiasis and hematuria

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.

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. Affected individuals can develop features of this condition anytime from infancy to late adulthood. When the condition appears in infancy, the first sign is usually the presence of tiny grains of reddish-brown material in the baby's diaper caused by the passing of stones. Later, recurrent kidney and urinary tract stones can lead to problems with kidney function beginning as early as mid- to late childhood. Approximately half of individuals with APRT deficiency first experience signs and symptoms of the condition in adulthood. The first features in affected adults are usually kidney stones and related urinary problems. Other signs and symptoms of APRT deficiency caused by kidney and urinary tract stones include fever, urinary tract infection, blood in the urine (hematuria), abdominal cramps, nausea, and vomiting. Without treatment, kidney function can decline, which may lead to end-stage renal disease (ESRD). ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. The features of this condition and their severity vary greatly among affected individuals, even among members of the same family. It is estimated that 15 to 20 percent of people with APRT deficiency do not have any signs or symptoms of the condition.

OMIM : 56 APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic (summary by Sahota et al., 2001). Two types of APRT deficiency have been described based on the level of residual enzyme activity in in vitro studies of erythrocytes. Type I deficiency is characterized by complete enzyme deficiency in intact cells and in cell lysates, whereas type II deficiency is characterized by complete enzyme deficiency in intact cells, but only a partial deficiency in cell lysates. Type II alleles show reduced affinity for phosphoribosyl pyrophosphate (PRPP) compared to wildtype. In both types, APRT activity is not functional in vivo. Type II deficiency is most common among Japanese. Heterozygotes of either type do not appear to have any clinical or biochemical abnormalities (summary by Sahota et al., 2001). (614723)

KEGG : 36 Adenine phosphoribosyltransferase deficiency is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine.

UniProtKB/Swiss-Prot : 73 Adenine phosphoribosyltransferase deficiency: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.

Wikipedia : 74 Adenine phosphoribosyltransferase deficiency is an autosomal recessive metabolic disorder associated... more...

GeneReviews: NBK100238

Related Diseases for Adenine Phosphoribosyltransferase Deficiency

Diseases related to Adenine Phosphoribosyltransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 disorder of purine metabolism 30.4 HPRT1 APRT
2 hereditary xanthinuria 30.4 XDH APRT
3 gout 30.3 XDH HPRT1 APRT
4 lesch-nyhan syndrome 30.3 XDH HPRT1 APRT
5 nephrolithiasis, uric acid 29.7 XDH HPRT1 GRHPR AGXT
6 primary hyperoxaluria 29.1 HOGA1 GRHPR CLCN5 AGXT
7 xanthinuria 28.7 XDH SLC7A9 HOGA1 GRHPR APRT
8 nephrolithiasis, calcium oxalate 28.1 XDH SLC7A9 HPRT1 HOGA1 GRHPR CLCN5
9 dihydroxyadeninuria 11.9
10 kidney disease 10.6
11 autosomal recessive disease 10.4
12 chronic kidney disease 10.4
13 end stage renal failure 10.3
14 anuria 10.2
15 interstitial nephritis 10.2
16 48,xyyy 10.2
17 kelley-seegmiller syndrome 10.2 HPRT1 APRT
18 morquio syndrome 10.2 GALNS APRT
19 mucopolysaccharidosis iv 10.2 GALNS APRT
20 molybdenum cofactor deficiency, complementation group a 10.1 XDH APRT
21 abdominal obesity-metabolic syndrome 1 10.1
22 obstructive nephropathy 10.1
23 urethral calculus 10.1 HOGA1 GRHPR
24 purine nucleoside phosphorylase deficiency 10.1 HPRT1 APRT
25 deficiency anemia 10.1
26 pancytopenia 10.1
27 acute cystitis 10.1
28 ureterolithiasis 10.1
29 acute kidney failure 10.1
30 urinary tract obstruction 10.1
31 inherited metabolic disorder 10.1
32 sideroblastic anemia 10.1
33 maternal uniparental disomy 10.1
34 maternal uniparental disomy of chromosome 16 10.1
35 refractory anemia 10.1
36 taqi polymorphism 10.0
37 mutagen sensitivity 10.0
38 allergic hypersensitivity disease 10.0
39 corneal dystrophy 10.0
40 teratocarcinoma 10.0
41 47,xyy 10.0
42 posttransplant acute limbic encephalitis 10.0
43 argyria 10.0
44 purine-pyrimidine metabolic disorder 10.0 XDH HPRT1 APRT
45 mucopolysaccharidosis-plus syndrome 10.0 GALNS APRT
46 carbohydrate metabolic disorder 9.7 HOGA1 GRHPR AGXT
47 mineral metabolism disease 9.5 CLCN5 AGXT
48 aminoaciduria 9.5 SLC7A9 CLCN5
49 nephrocalcinosis 9.1 XDH HOGA1 GRHPR CLCN5 AGXT
50 cystinuria 8.5 XDH SLC7A9 HOGA1 GRHPR CLCN5 AGXT

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



Diseases related to Adenine Phosphoribosyltransferase Deficiency

Symptoms & Phenotypes for Adenine Phosphoribosyltransferase Deficiency

Human phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
2 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
3 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
4 dysuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0100518
5 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
6 renal insufficiency 58 31 Frequent (79-30%) HP:0000083

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
renal failure

Laboratory Abnormalities:
aprt deficiency measured in erythrocyte lysate
2,8-dihydroxyadenine (dha) urinary stones
round, yellow-brown dha urine crystals

Genitourinary Ureters:
urolithiasis

Clinical features from OMIM:

614723

MGI Mouse Phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 AGXT APRT CLCN5 GALNS GRHPR HOGA1
2 renal/urinary system MP:0005367 9.32 AGXT APRT CLCN5 GALNS GRHPR HOGA1

Drugs & Therapeutics for Adenine Phosphoribosyltransferase Deficiency

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Febuxostat Approved Phase 4 144060-53-7 134018
2
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
3
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
4
Uric acid Investigational Phase 3 69-93-2 1175
5 Anti-Inflammatory Agents Phase 3
6 Anti-Inflammatory Agents, Non-Steroidal Phase 3
7 Analgesics, Non-Narcotic Phase 3
8 Cyclooxygenase Inhibitors Phase 3
9 Tocolytic Agents Phase 3
10 Analgesics Phase 3
11
Allopurinol Approved Phase 2 315-30-0 2094
12 Free Radical Scavengers Phase 2
13 Antioxidants Phase 2
14 Antirheumatic Agents Phase 2
15 Protective Agents Phase 2
16 Antimetabolites Phase 2
17 Noni

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Novel Assay for the Determination of Urinary 2,8-Dihydroxyadenine and Other Key Urinary Purine Metabolites: Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion in APRT Deficient Patients Completed NCT02752633 Phase 4 Allopurinol;Febuxostat
2 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Trial of the Safety of Rilonacept for the Prophylaxis of Gout Flares in Patients on Urate- Lowering Therapy Completed NCT00856206 Phase 3
3 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of Rilonacept for the Prophylaxis of Gout Flares During the Initiation of Allopurinol Therapy Completed NCT00829829 Phase 3 Rilonacept 80 mg;Rilonacept 160 mg
4 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria Completed NCT02110147 Phase 3 uridine triacetate
5 A Multi-Center, Randomized, Double-Blind, Active-Controlled Study of the Safety and Efficacy of Rilonacept Administered Subcutaneously for the Treatment of an Acute Gout Flare Completed NCT00855920 Phase 3 Rilonacept;Indomethacin
6 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of Rilonacept for the Prophylaxis of Gout Flares During the Initiation of Allopurinol Therapy Completed NCT00958438 Phase 3 Placebo;Rilonacept;Rilonacept
7 Evaluation of a Treatment With Allopurinol on Autistic Disorders and Epilepsy in Adenylosuccinate Lyase Deficiency (ADSL) Not yet recruiting NCT03776656 Phase 2 Allopurinol
8 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
9 Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network Recruiting NCT02026388
10 Characterization of Monogenic Kidney Stone Diseases Recruiting NCT03305835
11 Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases Recruiting NCT00588562

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:

# Genetic test Affiliating Genes
1 Adenine Phosphoribosyltransferase Deficiency 29 APRT

Anatomical Context for Adenine Phosphoribosyltransferase Deficiency

MalaCards organs/tissues related to Adenine Phosphoribosyltransferase Deficiency:

40
Kidney, Testes, T Cells, B Cells

Publications for Adenine Phosphoribosyltransferase Deficiency

Articles related to Adenine Phosphoribosyltransferase Deficiency:

(show top 50) (show all 219)
# Title Authors PMID Year
1
Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair. 61 24 56 6
9298830 1997
2
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. 61 24 56 6
3680503 1987
3
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. 61 56 6
1353080 1992
4
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus. 61 56 6
1673292 1991
5
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. 61 56 6
1985452 1991
6
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage. 61 56 6
2502918 1989
7
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. 61 56 6
3343350 1988
8
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. 61 24 56
10479485 1999
9
A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein. 56 6
9521589 1998
10
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. 56 6
7915931 1994
11
Adenine Phosphoribosyltransferase Deficiency 61 6
22934314 2012
12
The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era. 61 6
8882882 1996
13
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. 61 56
8825602 1995
14
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. 61 56
1998341 1991
15
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. 61 56
1986109 1991
16
Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family. 61 6
2135300 1990
17
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation. 61 6
2227951 1990
18
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. 61 56
2227934 1990
19
Adenine phosphoribosyltransferase deficiency: a simple diagnostic test. 61 56
3409638 1988
20
Adenine phosphoribosyltransferase deficiency in Iceland. 61 56
3207073 1988
21
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. 61 56
3610146 1987
22
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. 61 56
3817810 1987
23
Complete deficiency of adenine phosphoribosyltransferase: a report of three cases and immunologic and phagocytic investigations. 61 56
6701033 1984
24
Complete deficiency of adenine phosphoribosyltransferase. Report of a family. 61 56
865583 1977
25
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease. 61 56
1061547 1975
26
Adenine phosphoribosyltransferase deficiency in man. Report of a second family. 61 56
4749203 1973
27
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. 61 56
5676523 1968
28
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects. 61 24
31378568 2019
29
Long-term renal outcomes of APRT deficiency presenting in childhood. 61 24
30443743 2019
30
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial. 61 24
29241594 2018
31
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey. 61 24
27994857 2016
32
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency. 61 24
27770717 2016
33
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria. 61 24
28509161 2016
34
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. 61 24
26724837 2016
35
Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure. 61 24
25307253 2014
36
Inborn errors of purine metabolism: clinical update and therapies. 61 24
24972650 2014
37
Hereditary causes of kidney stones and chronic kidney disease. 61 24
23334384 2013
38
Adenine phosphoribosyltransferase deficiency. 61 24
22700886 2012
39
Adenine phosphoribosyltransferase deficiency in children. 61 24
22212387 2012
40
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. 61 24
20064951 2010
41
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. 61 24
20150536 2010
42
Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure. 61 24
17126311 2007
43
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. 61 24
15196008 2004
44
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. 61 24
11532677 2001
45
Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87. 6
7685481 1993
46
2,8-Dihydroxyadenine crystalluria vs urolithiasis. 56
1352601 1992
47
2,8-Dihydroxyadenine urolithiasis. 56
1349687 1992
48
2,8-Dihydroxyadenine urolithiasis. 56
1349689 1992
49
2,8-Dihydroxyadenine urolithiasis. 56
1349690 1992
50
Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. 6
3554238 1987

Variations for Adenine Phosphoribosyltransferase Deficiency

ClinVar genetic disease variations for Adenine Phosphoribosyltransferase Deficiency:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APRT NM_000485.3(APRT):c.400+2dupduplication Pathogenic 203396 rs745594160 16:88876475-88876476 16:88810067-88810068
2 APRT NM_000485.3(APRT):c.518_520TCT[1] (p.Phe174del)short repeat Pathogenic 18294 rs121912681 16:88876126-88876128 16:88809718-88809720
3 APRT NM_000485.3(APRT):c.321+2dupduplication Pathogenic 18295 rs281860263 16:88876828-88876829 16:88810420-88810421
4 APRT NM_000485.3(APRT):c.407T>C (p.Met136Thr)SNV Pathogenic 18296 rs28999113 16:88876242-88876242 16:88809834-88809834
5 APRT NM_000485.3(APRT):c.194A>T (p.Asp65Val)SNV Pathogenic 18297 rs104894506 16:88876958-88876958 16:88810550-88810550
6 APRT NM_000485.3(APRT):c.294G>A (p.Trp98Ter)SNV Pathogenic 18298 rs104894507 16:88876858-88876858 16:88810450-88810450
7 APRT NM_000485.3(APRT):c.258_261dup (p.Lys88fs)duplication Pathogenic 18299 rs281860265 16:88876890-88876891 16:88810482-88810483
8 APRT NM_000485.3(APRT):c.329T>C (p.Leu110Pro)SNV Pathogenic 18300 rs104894508 16:88876549-88876549 16:88810141-88810141
9 APRT APRT, 254-BP DEL AND 8-BP INSindel Pathogenic 18301
10 APRT NM_000485.3(APRT):c.542G>C (p.Ter181Ser)SNV Pathogenic 18302 rs387906584 16:88876107-88876107 16:88809699-88809699
11 APRT NM_000485.3(APRT):c.448G>T (p.Val150Phe)SNV Pathogenic 41012 rs281860266 16:88876201-88876201 16:88809793-88809793
12 APRT , GALNS NM_000485.3(APRT):c.*182A>GSNV Conflicting interpretations of pathogenicity 321155 rs8191498 16:88875924-88875924 16:88809516-88809516
13 APRT NM_000485.3(APRT):c.162C>T (p.His54=)SNV Conflicting interpretations of pathogenicity 321165 rs145490332 16:88877983-88877983 16:88811575-88811575
14 APRT NM_000485.3(APRT):c.*83G>ASNV Uncertain significance 321160 rs748634790 16:88876023-88876023 16:88809615-88809615
15 APRT NM_000485.3(APRT):c.316G>A (p.Gly106Arg)SNV Uncertain significance 321163 rs780098835 16:88876836-88876836 16:88810428-88810428
16 APRT NM_000485.3(APRT):c.*178A>CSNV Uncertain significance 321157 rs4695 16:88875928-88875928 16:88809520-88809520
17 APRT NM_000485.3(APRT):c.*152C>TSNV Uncertain significance 321158 rs137965502 16:88875954-88875954 16:88809546-88809546
18 APRT NM_000485.3(APRT):c.*122C>TSNV Uncertain significance 321159 rs769271336 16:88875984-88875984 16:88809576-88809576
19 APRT NM_000485.3(APRT):c.216C>A (p.Gly72=)SNV Uncertain significance 321164 rs377050219 16:88876936-88876936 16:88810528-88810528
20 APRT , GALNS NM_000485.3(APRT):c.97C>T (p.Leu33=)SNV Likely benign 321166 rs8191473 16:88878048-88878048 16:88811640-88811640
21 APRT , GALNS NM_000512.5(GALNS):c.*224C>GSNV Likely benign 321181 rs111233947 16:88880623-88880623 16:88814215-88814215
22 APRT , GALNS NM_000485.2(APRT):c.-50C>ASNV Likely benign 369134 rs8191469 16:88878357-88878357 16:88811949-88811949
23 APRT , GALNS NM_000485.3(APRT):c.*3A>GSNV Likely benign 321162 rs2070256 16:88876103-88876103 16:88809695-88809695
24 APRT , GALNS NM_000512.5(GALNS):c.*524G>CSNV Likely benign 321174 rs3759946 16:88880323-88880323 16:88813915-88813915
25 APRT , GALNS NM_000512.5(GALNS):c.*296A>GSNV Likely benign 321177 rs79507351 16:88880551-88880551 16:88814143-88814143
26 APRT , GALNS NM_000485.3(APRT):c.*47T>CSNV Likely benign 321161 rs8191497 16:88876059-88876059 16:88809651-88809651
27 APRT , GALNS NM_000485.3(APRT):c.90G>T (p.Ser30=)SNV Benign/Likely benign 321167 rs8191472 16:88878055-88878055 16:88811647-88811647
28 APRT , GALNS NM_000485.3(APRT):c.*178A>GSNV Benign 321156 rs4695 16:88875928-88875928 16:88809520-88809520
29 APRT , GALNS NM_000512.5(GALNS):c.*611A>GSNV Benign 321170 rs1135364 16:88880236-88880236 16:88813828-88813828
30 APRT , GALNS NM_000512.5(GALNS):c.*36G>ASNV Benign 256330 rs11076715 16:88880811-88880811 16:88814403-88814403
31 APRT , GALNS NM_000512.5(GALNS):c.*701C>GSNV Benign 321168 rs77936719 16:88880146-88880146 16:88813738-88813738
32 APRT , GALNS NM_000512.5(GALNS):c.*652A>GSNV Benign 321169 rs1135366 16:88880195-88880195 16:88813787-88813787
33 APRT , GALNS NM_000512.5(GALNS):c.*367T>CSNV Benign 321176 rs1141390 16:88880480-88880480 16:88814072-88814072

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

73
# 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

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 KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.97 GRHPR AGXT
2
Show member pathways
10.7 GRHPR AGXT
3 10.39 XDH HPRT1
4 10.28 HOGA1 GRHPR AGXT

GO Terms for Adenine Phosphoribosyltransferase Deficiency

Cellular components related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisomal matrix GO:0005782 8.62 GRHPR AGXT

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 9.51 XDH APRT
2 excretion GO:0007588 9.49 GRHPR CLCN5
3 nucleoside metabolic process GO:0009116 9.48 HPRT1 APRT
4 grooming behavior GO:0007625 9.46 HPRT1 APRT
5 purine-containing compound salvage GO:0043101 9.43 HPRT1 APRT
6 cellular nitrogen compound metabolic process GO:0034641 9.4 GRHPR AGXT
7 pyruvate biosynthetic process GO:0042866 9.37 HOGA1 AGXT
8 purine ribonucleoside salvage GO:0006166 9.32 HPRT1 APRT
9 glyoxylate catabolic process GO:0009436 9.26 HOGA1 AGXT
10 adenine metabolic process GO:0046083 9.16 HPRT1 APRT
11 adenine salvage GO:0006168 8.96 HPRT1 APRT
12 glyoxylate metabolic process GO:0046487 8.8 HOGA1 GRHPR AGXT

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.02 XDH HPRT1 HOGA1 GRHPR AGXT
2 antiporter activity GO:0015297 8.96 SLC4A8 CLCN5

Sources for Adenine Phosphoribosyltransferase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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