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 57 12 75 24 53 25 59 74 37 29 13 6 44 15 72
Aprt Deficiency 57 12 24 53 25 59 74
2,8-Dihydroxyadenine Urolithiasis 12 53 25 59 74 72
2,8-Dihydroxyadeninuria 24 25
Aprtd 57 74
Purine-Pyrimidine Metabolism, Inborn Errors 44
Urolithiasis, 2,8-Dihydroxyadenine 57
Dha Crystalline Nephropathy 25
Nephrolithiasis, Dha 57
Nephrolithiasis Dha 74
Urolithiasis, Dha 57
Urolithiasis Dha 74


Orphanet epidemiological data:

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;


autosomal recessive

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 ()


adenine phosphoribosyltransferase deficiency:
Inheritance autosomal recessive inheritance


External Ids:

Disease Ontology 12 DOID:0060350
OMIM 57 614723
KEGG 37 H00195
NCIt 50 C121564
SNOMED-CT 68 11852004
ICD10 via Orphanet 34 E79.8
UMLS via Orphanet 73 C0268120 C3665382
Orphanet 59 ORPHA976
UMLS 72 C0268120 C3665382

Summaries for Adenine Phosphoribosyltransferase Deficiency

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 976DefinitionA rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.EpidemiologyPrevalence is estimated at 1/50,000 to 1/100,000 in Caucasian, 1/27,000 in Japanese and > 1/15,000 in Icelandic populations. APRT deficiency appears to equally affect children and adults, male or female. In Caucasian populations, heterozygous prevalence is estimated between 1/250 and 1/91.Clinical descriptionClinical 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.EtiologyAPRT deficiency is an 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 methodsLack 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 is not required for diagnosis but may be useful for familial screening.Differential diagnosisConfusion 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 counselingGenetic 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 treatmentTo 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.PrognosisEarly diagnosis is the key and prognosis depends on progression of this treatable disorder. Allopurinol therapy effectively prevents stone recurrence. When renal function is decreased, allopurinol therapy leads to an improvement or stabilization in most patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : Adenine Phosphoribosyltransferase Deficiency, also known as aprt deficiency, is related to nephrolithiasis, calcium oxalate and nephrolithiasis, uric acid. An important gene associated with Adenine Phosphoribosyltransferase Deficiency is APRT (Adenine Phosphoribosyltransferase), and among its related pathways/superpathways are Purine metabolism and purine nucleotides de novo biosynthesis. The drugs Febuxostat and Rilonacept have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, 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 : 57 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 : 37
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 : 74 Adenine phosphoribosyltransferase deficiency: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.

Wikipedia : 75 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 42)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, calcium oxalate 30.4 XDH APRT
2 nephrolithiasis, uric acid 29.8 XDH HPRT1
3 hereditary xanthinuria 29.6 XDH APRT
4 inherited metabolic disorder 29.4 HPRT1 GALNS
5 gout 29.3 XDH HPRT1 APRT
6 lesch-nyhan syndrome 29.2 XDH HPRT1 APRT
7 xanthinuria 29.0 XDH HPRT1 APRT
8 dihydroxyadeninuria 11.9
9 kidney disease 10.6
10 autosomal recessive disease 10.4
11 chronic kidney disease 10.4
12 end stage renal failure 10.4
13 anuria 10.2
14 interstitial nephritis 10.2
15 48,xyyy 10.2
16 abdominal obesity-metabolic syndrome 1 10.1
17 obstructive nephropathy 10.1
18 deficiency anemia 10.1
19 pancytopenia 10.1
20 acute cystitis 10.1
21 ureterolithiasis 10.1
22 acute kidney failure 10.1
23 urinary tract obstruction 10.1
24 sideroblastic anemia 10.1
25 disorder of purine metabolism 10.1
26 maternal uniparental disomy 10.1
27 maternal uniparental disomy of chromosome 16 10.1
28 refractory anemia 10.1
29 taqi polymorphism 10.0
30 mutagen sensitivity 10.0
31 allergic hypersensitivity disease 10.0
32 corneal dystrophy 10.0
33 primary hyperoxaluria 10.0
34 teratocarcinoma 10.0
35 posttransplant acute limbic encephalitis 10.0
36 argyria 10.0
37 kelley-seegmiller syndrome 10.0 HPRT1 APRT
38 mucopolysaccharidosis-plus syndrome 9.7 GALNS APRT
39 xanthinuria, type i 9.6 XDH APRT
40 morquio syndrome 9.5 GALNS CDT1 APRT
41 purine-pyrimidine metabolic disorder 9.3 XDH HPRT1 APRT
42 hyperuricemia 9.2 XDH HPRT1

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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
2 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
3 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
4 dysuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0100518
5 stage 5 chronic kidney disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0003774
6 renal insufficiency 59 32 Frequent (79-30%) HP:0000083

Symptoms via clinical synopsis from OMIM:

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:

Clinical features from OMIM:


GenomeRNAi Phenotypes related to Adenine Phosphoribosyltransferase Deficiency according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.8 APRT CDT1 GALNS

MGI Mouse Phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

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

Drugs & Therapeutics for Adenine Phosphoribosyltransferase Deficiency

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Febuxostat Approved Phase 4 144060-53-7 134018
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
Uric acid Investigational Phase 3 69-93-2 1175
5 Anti-Inflammatory Agents Phase 3
6 Analgesics Phase 3
7 Analgesics, Non-Narcotic Phase 3
8 Cyclooxygenase Inhibitors Phase 3
9 Tocolytic Agents Phase 3
10 Peripheral Nervous System Agents Phase 3
11 Anti-Inflammatory Agents, Non-Steroidal Phase 3
Allopurinol Approved Phase 2 315-30-0 2094
13 Free Radical Scavengers Phase 2
14 Antioxidants Phase 2
15 Protective Agents Phase 2
16 Antimetabolites Phase 2
17 Antirheumatic Agents Phase 2
Mycophenolic acid Approved Phase 1 24280-93-1 446541
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
20 Anti-Bacterial Agents Phase 1
21 Immunologic Factors Phase 1
22 Cyclosporins Phase 1
23 Immunosuppressive Agents Phase 1
24 Antibiotics, Antitubercular Phase 1
25 Anti-Infective Agents Phase 1
26 Dermatologic Agents Phase 1
27 Antitubercular Agents Phase 1
28 Antifungal Agents Phase 1
29 Calcineurin Inhibitors Phase 1
30 Noni

Interventional clinical trials:

(show all 13)
# 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 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria Completed NCT02110147 Phase 3 uridine triacetate
4 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
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 Induction of Mixed Hematopoietic Chimerism in Patients With Severe Combined Immunodeficiency Disorders Using Allogeneic Bone Marrow and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil Completed NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
9 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
10 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
11 Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network Recruiting NCT02026388
12 Characterization of Monogenic Kidney Stone Diseases Recruiting NCT03305835
13 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:

Kidney, Testes, Bone, Bone Marrow, T Cells, B Cells

Publications for Adenine Phosphoribosyltransferase Deficiency

Articles related to Adenine Phosphoribosyltransferase Deficiency:

(show top 50) (show all 216)
# Title Authors PMID Year
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. 38 4 8 71
9298830 1997
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. 38 4 8 71
1353080 1992
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. 38 4 8 71
3680503 1987
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus. 38 8 71
1673292 1991
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. 38 8 71
1985452 1991
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage. 38 8 71
2502918 1989
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. 38 8 71
3343350 1988
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. 38 4 8
10479485 1999
A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein. 8 71
9521589 1998
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. 8 71
7915931 1994
Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase. 4 8
7766 1976
Adenine Phosphoribosyltransferase Deficiency 38 71
22934314 2012
The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era. 38 71
8882882 1996
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. 38 8
8825602 1995
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. 38 8
1998341 1991
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. 38 8
1986109 1991
Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family. 38 71
2135300 1990
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation. 38 71
2227951 1990
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. 38 8
2227934 1990
Adenine phosphoribosyltransferase deficiency: a simple diagnostic test. 38 8
3409638 1988
Adenine phosphoribosyltransferase deficiency in Iceland. 38 8
3207073 1988
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. 38 8
3610146 1987
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. 38 8
3817810 1987
Complete deficiency of adenine phosphoribosyltransferase: a report of three cases and immunologic and phagocytic investigations. 38 8
6701033 1984
Complete deficiency of adenine phosphoribosyltransferase. Report of a family. 38 8
865583 1977
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease. 38 8
1061547 1975
Adenine phosphoribosyltransferase deficiency in man. Report of a second family. 38 8
4749203 1973
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. 38 8
5676523 1968
Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure. 38 4
25307253 2014
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism. 38 4
24940675 2014
Hereditary causes of kidney stones and chronic kidney disease. 38 4
23334384 2013
Adenine phosphoribosyltransferase deficiency in children. 38 4
22212387 2012
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. 38 4
20064951 2010
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. 38 4
20150536 2010
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. 38 4
17126311 2007
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. 38 4
15196008 2004
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. 38 4
14767036 2004
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. 38 4
11532677 2001
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. 38 4
11325702 2001
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. 71
7685481 1993
2,8-Dihydroxyadenine crystalluria vs urolithiasis. 8
1352601 1992
2,8-Dihydroxyadenine urolithiasis. 8
1349687 1992
2,8-Dihydroxyadenine urolithiasis. 8
1349689 1992
2,8-Dihydroxyadenine urolithiasis. 8
1349690 1992
Characterization of an adenine phosphoribosyltransferase deficiency. 38 4
3370830 1988
Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. 71
3554238 1987
2,8-Dihydroxyadenine urolithiasis: report of an adult case in the United States. 8
3806829 1987
Corneal dystrophy and total adenine phosphoribosyltransferase (APRT) deficiency. 38 4
3487363 1986
Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase. 38 4
3871499 1985
Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies. 8
3876264 1985

Variations for Adenine Phosphoribosyltransferase Deficiency

ClinVar genetic disease variations for Adenine Phosphoribosyltransferase Deficiency:

6 (show all 34)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 APRT NM_000485.3(APRT): c.518_520TCT[1] (p.Phe174del) short repeat Pathogenic rs121912681 16:88876130-88876132 16:88809722-88809724
2 APRT NM_000485.3(APRT): c.321+2dup duplication Pathogenic rs281860263 16:88876829-88876829 16:88810421-88810421
3 APRT NM_000485.3(APRT): c.407T> C (p.Met136Thr) single nucleotide variant Pathogenic rs28999113 16:88876242-88876242 16:88809834-88809834
4 APRT NM_000485.3(APRT): c.194A> T (p.Asp65Val) single nucleotide variant Pathogenic rs104894506 16:88876958-88876958 16:88810550-88810550
5 APRT NM_000485.3(APRT): c.294G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs104894507 16:88876858-88876858 16:88810450-88810450
6 APRT NM_000485.3(APRT): c.258_261dup (p.Lys88fs) duplication Pathogenic rs281860265 16:88876891-88876894 16:88810483-88810486
7 APRT NM_000485.3(APRT): c.329T> C (p.Leu110Pro) single nucleotide variant Pathogenic rs104894508 16:88876549-88876549 16:88810141-88810141
8 APRT APRT, 254-BP DEL AND 8-BP INS indel Pathogenic
9 APRT NM_000485.3(APRT): c.542G> C (p.Ter181Ser) single nucleotide variant Pathogenic rs387906584 16:88876107-88876107 16:88809699-88809699
10 APRT NM_000485.3(APRT): c.448G> T (p.Val150Phe) single nucleotide variant Pathogenic rs281860266 16:88876201-88876201 16:88809793-88809793
11 APRT NM_000485.3(APRT): c.400+2dup duplication Pathogenic rs745594160 16:88876476-88876476 16:88810068-88810068
12 APRT ; GALNS NM_000485.3(APRT): c.*182A> G single nucleotide variant Conflicting interpretations of pathogenicity rs8191498 16:88875924-88875924 16:88809516-88809516
13 APRT NM_000485.3(APRT): c.*83G> A single nucleotide variant Uncertain significance rs748634790 16:88876023-88876023 16:88809615-88809615
14 APRT NM_000485.3(APRT): c.316G> A (p.Gly106Arg) single nucleotide variant Uncertain significance rs780098835 16:88876836-88876836 16:88810428-88810428
15 APRT NM_000485.3(APRT): c.162C> T (p.His54=) single nucleotide variant Uncertain significance rs145490332 16:88877983-88877983 16:88811575-88811575
16 APRT NM_000485.3(APRT): c.*178A> C single nucleotide variant Uncertain significance rs4695 16:88875928-88875928 16:88809520-88809520
17 APRT NM_000485.3(APRT): c.*122C> T single nucleotide variant Uncertain significance rs769271336 16:88875984-88875984 16:88809576-88809576
18 APRT NM_000485.3(APRT): c.*152C> T single nucleotide variant Uncertain significance rs137965502 16:88875954-88875954 16:88809546-88809546
19 APRT NM_000485.3(APRT): c.216C> A (p.Gly72=) single nucleotide variant Uncertain significance rs377050219 16:88876936-88876936 16:88810528-88810528
20 APRT ; GALNS NM_000485.3(APRT): c.*47T> C single nucleotide variant Likely benign rs8191497 16:88876059-88876059 16:88809651-88809651
21 APRT ; GALNS NM_000485.2(APRT): c.-50C> A single nucleotide variant Likely benign rs8191469 16:88878357-88878357 16:88811949-88811949
22 APRT ; GALNS NM_000485.3(APRT): c.*3A> G single nucleotide variant Likely benign rs2070256 16:88876103-88876103 16:88809695-88809695
23 APRT ; GALNS NM_000512.5(GALNS): c.*224C> G single nucleotide variant Likely benign rs111233947 16:88880623-88880623 16:88814215-88814215
24 APRT ; GALNS NM_000485.3(APRT): c.97C> T (p.Leu33=) single nucleotide variant Likely benign rs8191473 16:88878048-88878048 16:88811640-88811640
25 APRT ; GALNS NM_000485.3(APRT): c.90G> T (p.Ser30=) single nucleotide variant Likely benign rs8191472 16:88878055-88878055 16:88811647-88811647
26 APRT ; GALNS NM_000512.5(GALNS): c.*524G> C single nucleotide variant Likely benign rs3759946 16:88880323-88880323 16:88813915-88813915
27 APRT ; GALNS NM_000512.5(GALNS): c.*296A> G single nucleotide variant Likely benign rs79507351 16:88880551-88880551 16:88814143-88814143
28 APRT ; GALNS NM_000485.3(APRT): c.*178A> G single nucleotide variant Benign rs4695 16:88875928-88875928 16:88809520-88809520
29 APRT ; GALNS NM_000512.5(GALNS): c.*611A> G single nucleotide variant Benign rs1135364 16:88880236-88880236 16:88813828-88813828
30 APRT ; GALNS NM_000512.5(GALNS): c.*36G> A single nucleotide variant Benign rs11076715 16:88880811-88880811 16:88814403-88814403
31 APRT NM_000485.3(APRT): c.297C> T (p.Ala99=) single nucleotide variant Benign rs281860262 16:88876855-88876855 16:88810447-88810447
32 APRT ; GALNS NM_000512.5(GALNS): c.*367T> C single nucleotide variant Benign rs1141390 16:88880480-88880480 16:88814072-88814072
33 APRT ; GALNS NM_000512.5(GALNS): c.*652A> G single nucleotide variant Benign rs1135366 16:88880195-88880195 16:88813787-88813787
34 APRT ; GALNS NM_000512.5(GALNS): c.*701C> G single nucleotide variant Benign rs77936719 16:88880146-88880146 16:88813738-88813738

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

# 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:

# 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
Show member pathways
11.07 HPRT1 APRT
2 10.05 XDH HPRT1

GO Terms for Adenine Phosphoribosyltransferase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 9.4 XDH APRT
2 nucleoside metabolic process GO:0009116 9.37 HPRT1 APRT
3 grooming behavior GO:0007625 9.32 HPRT1 APRT
4 purine-containing compound salvage GO:0043101 9.26 HPRT1 APRT
5 purine ribonucleoside salvage GO:0006166 9.16 HPRT1 APRT
6 adenine salvage GO:0006168 8.96 HPRT1 APRT
7 adenine metabolic process GO:0046083 8.62 HPRT1 APRT

Sources for Adenine Phosphoribosyltransferase Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
Loading form....