Adenine Phosphoribosyltransferase Deficiency malady

Genetics Home Reference: 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.¹⁷

MalaCards: Adenine Phosphoribosyltransferase Deficiency, also known as 2,8-dihydroxyadeninuria, is related to urolithiasis and nephrolithiasis. An important gene associated with Adenine Phosphoribosyltransferase Deficiency is APRT (adenine phosphoribosyltransferase), and among its related pathways are Drug metabolism - other enzymes and Purine metabolism. The compounds 6-thiouric acid and mercaptopurine have been mentioned in the context of this disorder. Affiliated tissues include kidney and t cells, and related mouse phenotypes are reproductive system and renal/urinary system.

Wikipedia: Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine...⁴⁴ more...

GeneReviews summary for aprt-def

adenine phosphoribosyltransferase deficiency 15 30 16 17 2,8-dihydroxyadeninuria 15 16 17 aprt deficiency 15 16 17 urolithiasis, 2,8-dihydroxyadenine 33

2,8-dihydroxyadenine urolithiasis 17 deficiency of amp pyrophorylase 43 dha crystalline nephropathy 17

Diseases related to adenine phosphoribosyltransferase deficiency by text searches and GeneDecks gene sharing:

(show all 26)

id	Related Disease	Score	Top Affiliating Genes
1	urolithiasis	30.0	HPRT1, APRT, XDH
2	nephrolithiasis	30.0	XDH, APRT, HPRT1
3	gout	28.5	XDH, APRT, HPRT1
4	anemia	28.4	HPRT1, APRT, XDH
5	xanthinuria	28.1	XDH, APRT
6	lesch-nyhan syndrome	26.9	XDH, APRT, HPRT1
7	acute urate nephropathy	12.5	XDH, HPRT1
8	bilirubin metabolic disorder	12.4	XDH, APRT
9	hypouricemia	12.4	XDH, HPRT1
10	purine-pyrimidine metabolic disorder	12.4	HPRT1, APRT
11	nucleoside phosphorylase deficiency	12.3	HPRT1, APRT
12	purine nucleoside phosphorylase deficiency	12.3	APRT, HPRT1
13	bloom syndrome	12.3	HPRT1, APRT
14	xeroderma pigmentosum	12.2	APRT, HPRT1
15	ataxia telangiectasia	12.2	HPRT1, XDH
16	skin cancer	11.9	APRT, HPRT1
17	hyperuricemia	11.9	HPRT1, APRT, XDH
18	lung carcinoma	11.8	XDH, APRT, HPRT1
19	nephropathy	11.7	HPRT1, APRT, XDH
20	pneumonia	11.7	HPRT1, APRT, XDH
21	rheumatoid arthritis	11.5	XDH, APRT, HPRT1
22	tuberculosis	11.5	XDH, APRT, HPRT1
23	arthritis	11.2	HPRT1, APRT, XDH
24	dihydroxyadeninuria	7.7
25	sideroblastic anemia	7.2
26	ureterolithiasis	7.2

Approved drugs:

Drug clinical trials:

Genetic tests related to adenine phosphoribosyltransferase deficiency:

id	Genetic test	Affiliating Genes
1	Adenine Phosphoribosyltransferase Deficiency clinical/research	APRT

MalaCards organs/tissues related to adenine phosphoribosyltransferase deficiency:

²²

MGI Mouse Phenotypes related to adenine phosphoribosyltransferase deficiency:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	reproductive system phenotype	MP:0005389	9.7	HPRT1
2	renal/urinary system phenotype	MP:0005367	8.4	XDH, APRT, HPRT1
3	integument phenotype	MP:0010771	8.2	XDH, APRT, HPRT1

Articles related to adenine phosphoribosyltransferase deficiency:

(show all 26)

id	Title	Authors	Year	Affiliating Genes
1	Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. (20101413)	Iwaki T.... Itoh S.	2010	APRT
2	Adenine phosphoribosyltransferase deficiency in a Chinese man with early-onset gout. (19435978)	Chen C.J.... Schumacher H.R.	2009	APRT
3	Adenine phosphoribosyltransferase deficiency and its purine metabolism (18409532)	Taniguchi A.	2008	APRT
4	Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. (15077874)	Eller P.... Lhotta K.	2004	APRT
5	Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. (14767036)	Cassidy M.J.... Simmonds H.A.	2004	APRT
6	Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. (15278765)	Kuno S.... Kamatani N.	2004	APRT
7	Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. (11532677)	Edvardsson V.... Laxdal T.	2001	APRT
8	Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. (11325702)	Benedetto B.... Lipkowitz G.S.	2001	APRT
9	Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. (9510404)	Inagaki K.... Murakami K.	1998	APRT
10	Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. (9689017)	Stockelman M.G.... Stambrook P.J.	1998	APRT, XDH
11	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)	Suzuki K.... Tsugawa R.	1997	APRT
12	Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. (8864750)	Redhead N.J.... Melton D.W.	1996	HPRT1, APRT
13	2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. (8863589)	de Jong D.J.... Huysmans F.T.	1996	APRT
14	Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. (8643571)	Engle S.J.... Tischfield J.A.	1996	APRT
15	Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. (8825602)	Terai C.... Kashiwazaki S.	1995	APRT
16	Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. (8503153)	Kaneko Y.... Yoshida O.	1993	APRT
17	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)	Takeuchi H.... Yoshida O.	1993	APRT
18	Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. (8447714)	Fye K.H.... Tischfield J.A.	1993	APRT
19	Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. (1353080)	Kamatani N.... Kashiwazaki S.	1992	APRT
20	Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients (1307610)	Higashimoto H.... Hikiji K.	1992	APRT
21	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)	Hakoda M.... Kamatani N.	1991	APRT
22	Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method. (1777979)	Kawaguchi R.... Kamatani N.	1991	APRT
23	A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. (1985452)	Mimori A.... Pallela T.D.	1991	APRT
24	Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. (2227934)	Kamatani N.... Hakoda M.	1990	APRT
25	Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency (2255060)	Mita M.... Uchida T.	1990	APRT
26	Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. (3343350)	Hidaka Y.... Kelley W.N.	1988	APRT

Genes related to adenine phosphoribosyltransferase deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	APRT	adenine phosphoribosyltransferase	11.0	Publications
2	HPRT1	hypoxanthine phosphoribosyltransferase 1	11.0	Publications
3	XDH	xanthine dehydrogenase	11.0	Publications

Pathways related to adenine phosphoribosyltransferase deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Drug metabolism - other enzymes20	9.1	XDH, HPRT1
2	Purine metabolism38	9.1	APRT, HPRT1
3	ATP/ITP metabolism10	8.9	HPRT1, APRT
4	ATP/ITP metabolism41	8.7	APRT, HPRT1
5	Purine metabolism20	8.6	HPRT1, XDH, APRT
6	Metabolic pathways20	8.5	HPRT1, APRT, XDH

Compounds related to adenine phosphoribosyltransferase deficiency according to GeneDecks:

(show all 32)

id	Compound	Score	Top Affiliating Genes
1	6-thiouric acid32	9.5	XDH, HPRT1
2	mercaptopurine34 9 9	11.5	XDH, HPRT1
3	tiazofurin32	9.5	HPRT1, XDH
4	thiopurine32	9.4	HPRT1, XDH
5	6 mercaptopurine32	9.4	HPRT1, XDH
6	Alpha-Phosphoribosylpyrophosphoric Acid9 9	10.4	HPRT1, APRT
7	ethyl methanesulfonate32	9.4	APRT, HPRT1
8	2-amino-3-methylimidazo(4,5-f)quinoline32	9.3	APRT, HPRT1
9	bpde32	9.3	HPRT1, APRT
10	acetaldehyde32 18	10.3	XDH, HPRT1
11	prpp32	9.3	APRT, HPRT1
12	phip32	9.3	HPRT1, APRT
13	azathioprine32 34 9 9	12.3	XDH, HPRT1
14	inosine monophosphate32	9.3	HPRT1, APRT
15	mitomycin c32	9.2	XDH, HPRT1
16	benzo(a)pyrene32	9.2	APRT, HPRT1
17	dmso32	9.1	HPRT1, XDH
18	ascorbic acid32 18	10.1	HPRT1, XDH
19	nucleoside32	9.1	HPRT1, APRT
20	Adenosine monophosphate9 18 9	10.9	APRT, HPRT1
21	2,8-dihydroxyadenine32	8.9	XDH, HPRT1, APRT
22	allopurinol32 9 9	10.9	HPRT1, APRT, XDH
23	purine nucleoside32	8.9	APRT, XDH, HPRT1
24	inosine32 18	9.9	HPRT1, APRT, XDH
25	hypoxanthine32 9 18 9	11.9	HPRT1, APRT, XDH
26	xanthine32 18	9.9	APRT, HPRT1, XDH
27	uric acid32 18	9.9	XDH, APRT, HPRT1
28	purine32 18	9.9	HPRT1, XDH, APRT
29	adenine32 9 18 9	11.9	HPRT1, APRT, XDH
30	guanine32 9 18 9	11.8	HPRT1, XDH, APRT
31	phosphoric acid32 18	9.7	APRT, HPRT1
32	h2o232	8.7	HPRT1, XDH, APRT

Biological processes related to adenine phosphoribosyltransferase deficiency according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	purine ribonucleoside salvage	GO:006166	9.1	APRT, HPRT1
2	grooming behavior	GO:007625	9.0	HPRT1, APRT
3	lactation	GO:007595	9.0	APRT, XDH
4	purine-containing compound salvage	GO:043101	8.9	APRT, HPRT1
5	purine nucleobase metabolic process	GO:006144	8.7	XDH, APRT, HPRT1
6	nucleobase-containing small molecule metabolic process	GO:055086	8.6	APRT, XDH, HPRT1
7	small molecule metabolic process	GO:044281	8.5	APRT, HPRT1, XDH