APRTD
MCID: ADN024
MIFTS: 50

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 58 12 77 25 54 26 60 76 38 30 13 6 45 15 74
Aprt Deficiency 58 12 25 26 60 76
2,8-Dihydroxyadenine Urolithiasis 12 26 60 76 74
2,8-Dihydroxyadeninuria 25 26
Aprtd 58 76
Purine-Pyrimidine Metabolism, Inborn Errors 45
Urolithiasis, 2,8-Dihydroxyadenine 58
Adenine Phosphoribosyltransferase 13
Dha Crystalline Nephropathy 26
Nephrolithiasis, Dha 58
Nephrolithiasis Dha 76
Urolithiasis, Dha 58
Urolithiasis Dha 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
adenine phosphoribosyltransferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060350
OMIM 58 614723
KEGG 38 H00195
NCIt 51 C121564
SNOMED-CT 69 11852004
ICD10 via Orphanet 35 E79.8
UMLS via Orphanet 75 C0268120 C3665382
Orphanet 60 ORPHA976

Summaries for Adenine Phosphoribosyltransferase Deficiency

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 976Disease definitionAdenine phosphoribosyltransferase (APRT) deficiency is a 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 familialscreening.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 hereditary xanthinuria and gout. An important gene associated with Adenine Phosphoribosyltransferase Deficiency is APRT (Adenine Phosphoribosyltransferase), and among its related pathways/superpathways are Purine metabolism and Metabolism. The drugs Allopurinol and Febuxostat 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 : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 Adenine phosphoribosyltransferase deficiency: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.

Wikipedia : 77 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

Human phenotypes related to Adenine Phosphoribosyltransferase Deficiency:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000787
2 hematuria 60 33 frequent (33%) Frequent (79-30%) HP:0000790
3 recurrent urinary tract infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0000010
4 dysuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0100518
5 stage 5 chronic kidney disease 60 33 occasional (7.5%) Occasional (29-5%) HP:0003774
6 renal insufficiency 60 33 Frequent (79-30%) HP:0000083

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# 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:

47
# 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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Allopurinol Approved Phase 4 315-30-0 2094
2
Febuxostat Approved Phase 4 144060-53-7 134018
3 Antioxidants Phase 4
4 Antimetabolites Phase 4
5 Free Radical Scavengers Phase 4
6 Antirheumatic Agents Phase 4
7 Protective Agents Phase 4
8 Noni

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion Completed NCT02752633 Phase 4 Allopurinol;Febuxostat
2 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
3 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
4 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
5 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
6 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835

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 30 APRT

Anatomical Context for Adenine Phosphoribosyltransferase Deficiency

MalaCards organs/tissues related to Adenine Phosphoribosyltransferase Deficiency:

42
Kidney, Testes, T Cells

Publications for Adenine Phosphoribosyltransferase Deficiency

Articles related to Adenine Phosphoribosyltransferase Deficiency:

(show top 50) (show all 83)
# Title Authors Year
1
Long-term renal outcomes of APRT deficiency presenting in childhood. ( 30443743 )
2019
2
Corrigendum to "Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency" [J. Chromatogr. B 1036-1037 (2016) 170-177]. ( 29861153 )
2018
3
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial. ( 29241594 )
2018
4
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report
. ( 30106368 )
2018
5
APRT deficiency: the need for early diagnosis. ( 30355577 )
2018
6
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis. ( 28466077 )
2017
7
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report. ( 28717278 )
2017
8
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. ( 28566603 )
2017
9
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey. ( 27994857 )
2016
10
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria. ( 28509161 )
2016
11
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency. ( 26684317 )
2016
12
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. ( 26724837 )
2016
13
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency. ( 27770717 )
2016
14
Adenine phosphoribosyltransferase deficiency as a cause of renal failure. ( 25900388 )
2015
15
A rare case of primary non-function of renal allograft due to adenine phosphoribosyltransferase deficiency. ( 26253830 )
2015
16
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. ( 24459232 )
2014
17
Adenine phosphoribosyltransferase deficiency. ( 22700886 )
2012
18
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. ( 23430916 )
2012
19
Adenine phosphoribosyltransferase deficiency in children. ( 22212387 )
2012
20
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. ( 21749366 )
2011
21
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. ( 20101413 )
2010
22
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. ( 20150536 )
2010
23
Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation. ( 25984046 )
2010
24
Adenine phosphoribosyltransferase deficiency in a Chinese man with early-onset gout. ( 19435978 )
2009
25
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]. ( 18409532 )
2008
26
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. ( 15278765 )
2004
27
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. ( 15077874 )
2004
28
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. ( 14767036 )
2004
29
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. ( 11532677 )
2001
30
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. ( 11325702 )
2001
31
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. ( 9510404 )
1998
32
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. ( 9689017 )
1998
33
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
34
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. ( 8864750 )
1996
35
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. ( 8863589 )
1996
36
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. ( 8825602 )
1995
37
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
38
Search for the mechanisms of high incidence of APRT deficiency among Japanese. ( 7660920 )
1994
39
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
40
Adenine Phosphoribosyltransferase Deficiency ( 22934314 )
1993
41
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. ( 8447714 )
1993
42
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. ( 8503153 )
1993
43
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. ( 1307610 )
1992
44
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. ( 1353080 )
1992
45
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
46
Mutational basis of adenine phosphoribosyltransferase deficiency. ( 1781410 )
1991
47
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method. ( 1777979 )
1991
48
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. ( 1986109 )
1991
49
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. ( 1985452 )
1991
50
Long-term evolution of type 1 adenine phosphoribosyltransferase (APRT) deficiency. ( 1781413 )
1991

Variations for Adenine Phosphoribosyltransferase Deficiency

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

76
# 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 top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 APRT NM_000485.2(APRT): c.400+2dupT duplication Pathogenic rs745594160 GRCh38 Chromosome 16, 88810068: 88810068
2 APRT NM_000485.2(APRT): c.400+2dupT duplication Pathogenic rs745594160 GRCh37 Chromosome 16, 88876476: 88876476
3 APRT NM_000485.2(APRT): c.517_519delTTC (p.Phe174del) deletion Pathogenic rs121912681 GRCh37 Chromosome 16, 88876130: 88876132
4 APRT NM_000485.2(APRT): c.517_519delTTC (p.Phe174del) deletion Pathogenic rs121912681 GRCh38 Chromosome 16, 88809722: 88809724
5 APRT NM_000485.2(APRT): c.321+2_321+3insT insertion Pathogenic rs281860263 GRCh37 Chromosome 16, 88876829: 88876829
6 APRT NM_000485.2(APRT): c.321+2_321+3insT insertion Pathogenic rs281860263 GRCh38 Chromosome 16, 88810421: 88810421
7 APRT NM_000485.2(APRT): c.407T> C (p.Met136Thr) single nucleotide variant Pathogenic rs28999113 GRCh37 Chromosome 16, 88876242: 88876242
8 APRT NM_000485.2(APRT): c.407T> C (p.Met136Thr) single nucleotide variant Pathogenic rs28999113 GRCh38 Chromosome 16, 88809834: 88809834
9 APRT NM_000485.2(APRT): c.194A> T (p.Asp65Val) single nucleotide variant Pathogenic rs104894506 GRCh37 Chromosome 16, 88876958: 88876958
10 APRT NM_000485.2(APRT): c.194A> T (p.Asp65Val) single nucleotide variant Pathogenic rs104894506 GRCh38 Chromosome 16, 88810550: 88810550
11 APRT NM_000485.2(APRT): c.294G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs104894507 GRCh37 Chromosome 16, 88876858: 88876858
12 APRT NM_000485.2(APRT): c.294G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs104894507 GRCh38 Chromosome 16, 88810450: 88810450
13 APRT NM_000485.2(APRT): c.258_261dupCCGA (p.Lys88Profs) duplication Pathogenic rs281860265 GRCh37 Chromosome 16, 88876891: 88876894
14 APRT NM_000485.2(APRT): c.258_261dupCCGA (p.Lys88Profs) duplication Pathogenic rs281860265 GRCh38 Chromosome 16, 88810483: 88810486
15 APRT NM_000485.2(APRT): c.329T> C (p.Leu110Pro) single nucleotide variant Pathogenic rs104894508 GRCh37 Chromosome 16, 88876549: 88876549
16 APRT NM_000485.2(APRT): c.329T> C (p.Leu110Pro) single nucleotide variant Pathogenic rs104894508 GRCh38 Chromosome 16, 88810141: 88810141
17 APRT APRT, 254-BP DEL AND 8-BP INS indel Pathogenic
18 APRT NM_000485.2(APRT): c.542G> C (p.Ter181Ser) single nucleotide variant Pathogenic rs387906584 GRCh37 Chromosome 16, 88876107: 88876107
19 APRT NM_000485.2(APRT): c.542G> C (p.Ter181Ser) single nucleotide variant Pathogenic rs387906584 GRCh38 Chromosome 16, 88809699: 88809699
20 APRT NM_000485.2(APRT): c.297C> T (p.Ala99=) single nucleotide variant Benign rs281860262 GRCh37 Chromosome 16, 88876855: 88876855
21 APRT NM_000485.2(APRT): c.297C> T (p.Ala99=) single nucleotide variant Benign rs281860262 GRCh38 Chromosome 16, 88810447: 88810447
22 APRT NM_000485.2(APRT): c.448G> T (p.Val150Phe) single nucleotide variant Pathogenic rs281860266 GRCh37 Chromosome 16, 88876201: 88876201
23 APRT NM_000485.2(APRT): c.448G> T (p.Val150Phe) single nucleotide variant Pathogenic rs281860266 GRCh38 Chromosome 16, 88809793: 88809793
24 APRT; GALNS NM_000512.4(GALNS): c.*36G> A single nucleotide variant Benign rs11076715 GRCh37 Chromosome 16, 88880811: 88880811
25 APRT; GALNS NM_000512.4(GALNS): c.*36G> A single nucleotide variant Benign rs11076715 GRCh38 Chromosome 16, 88814403: 88814403
26 APRT; GALNS NM_000485.2(APRT): c.*182A> G single nucleotide variant Conflicting interpretations of pathogenicity rs8191498 GRCh37 Chromosome 16, 88875924: 88875924
27 APRT; GALNS NM_000485.2(APRT): c.*182A> G single nucleotide variant Conflicting interpretations of pathogenicity rs8191498 GRCh38 Chromosome 16, 88809516: 88809516
28 APRT; GALNS NM_000485.2(APRT): c.*178A> G single nucleotide variant Benign rs4695 GRCh37 Chromosome 16, 88875928: 88875928
29 APRT; GALNS NM_000485.2(APRT): c.*178A> G single nucleotide variant Benign rs4695 GRCh38 Chromosome 16, 88809520: 88809520
30 APRT; GALNS NM_000512.4(GALNS): c.*611A> G single nucleotide variant Benign rs1135364 GRCh38 Chromosome 16, 88813828: 88813828
31 APRT; GALNS NM_000512.4(GALNS): c.*611A> G single nucleotide variant Benign rs1135364 GRCh37 Chromosome 16, 88880236: 88880236
32 APRT NM_000485.2(APRT): c.*83G> A single nucleotide variant Uncertain significance rs748634790 GRCh38 Chromosome 16, 88809615: 88809615
33 APRT NM_000485.2(APRT): c.*83G> A single nucleotide variant Uncertain significance rs748634790 GRCh37 Chromosome 16, 88876023: 88876023
34 APRT NM_000485.2(APRT): c.316G> A (p.Gly106Arg) single nucleotide variant Uncertain significance rs780098835 GRCh38 Chromosome 16, 88810428: 88810428
35 APRT NM_000485.2(APRT): c.316G> A (p.Gly106Arg) single nucleotide variant Uncertain significance rs780098835 GRCh37 Chromosome 16, 88876836: 88876836
36 APRT NM_000485.2(APRT): c.162C> T (p.His54=) single nucleotide variant Uncertain significance rs145490332 GRCh38 Chromosome 16, 88811575: 88811575
37 APRT NM_000485.2(APRT): c.162C> T (p.His54=) single nucleotide variant Uncertain significance rs145490332 GRCh37 Chromosome 16, 88877983: 88877983
38 APRT; GALNS NM_000485.2(APRT): c.90G> T (p.Ser30=) single nucleotide variant Likely benign rs8191472 GRCh38 Chromosome 16, 88811647: 88811647
39 APRT; GALNS NM_000485.2(APRT): c.90G> T (p.Ser30=) single nucleotide variant Likely benign rs8191472 GRCh37 Chromosome 16, 88878055: 88878055
40 APRT; GALNS NM_000512.4(GALNS): c.*524G> C single nucleotide variant Likely benign rs3759946 GRCh38 Chromosome 16, 88813915: 88813915
41 APRT; GALNS NM_000512.4(GALNS): c.*524G> C single nucleotide variant Likely benign rs3759946 GRCh37 Chromosome 16, 88880323: 88880323
42 APRT; GALNS NM_000512.4(GALNS): c.*296A> G single nucleotide variant Likely benign rs79507351 GRCh38 Chromosome 16, 88814143: 88814143
43 APRT; GALNS NM_000512.4(GALNS): c.*296A> G single nucleotide variant Likely benign rs79507351 GRCh37 Chromosome 16, 88880551: 88880551
44 APRT; GALNS NM_000485.2(APRT): c.*47T> C single nucleotide variant Likely benign rs8191497 GRCh38 Chromosome 16, 88809651: 88809651
45 APRT; GALNS NM_000485.2(APRT): c.*47T> C single nucleotide variant Likely benign rs8191497 GRCh37 Chromosome 16, 88876059: 88876059
46 APRT NM_000485.2(APRT): c.216C> A (p.Gly72=) single nucleotide variant Uncertain significance rs377050219 GRCh38 Chromosome 16, 88810528: 88810528
47 APRT NM_000485.2(APRT): c.216C> A (p.Gly72=) single nucleotide variant Uncertain significance rs377050219 GRCh37 Chromosome 16, 88876936: 88876936
48 APRT; GALNS NM_000485.2(APRT): c.97C> T (p.Leu33=) single nucleotide variant Likely benign rs8191473 GRCh38 Chromosome 16, 88811640: 88811640
49 APRT; GALNS NM_000485.2(APRT): c.97C> T (p.Leu33=) single nucleotide variant Likely benign rs8191473 GRCh37 Chromosome 16, 88878048: 88878048
50 APRT; GALNS NM_000512.4(GALNS): c.*224C> G single nucleotide variant Likely benign rs111233947 GRCh37 Chromosome 16, 88880623: 88880623

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:

38
# Name Kegg Source Accession
1 Purine metabolism hsa00230

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 9.43 APRT UMPS XDH
2 grooming behavior GO:0007625 9.4 APRT HPRT1
3 purine-containing compound salvage GO:0043101 9.37 APRT HPRT1
4 purine ribonucleoside salvage GO:0006166 9.32 APRT HPRT1
5 adenine metabolic process GO:0046083 9.16 APRT HPRT1
6 adenine salvage GO:0006168 8.96 APRT HPRT1
7 nucleoside metabolic process GO:0009116 8.8 APRT HPRT1 UMPS

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

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....