Hypouricemia malady

Wikipedia: Hypouricemia is a level of uric acid in blood serum that is below normal. In humans, the normal range of...⁴⁴ more...

MalaCards: Hypouricemia is related to renal hypouricemia and nucleoside phosphorylase deficiency. An important gene associated with Hypouricemia is SLC22A12 (solute carrier family 22 (organic anion/urate transporter), member 12), and among its related pathways are Purine catabolism and Drug metabolism - other enzymes. The compounds ascorbic acid and 9-deazaguanine have been mentioned in the context of this disorder. Related mouse phenotypes are mortality/aging and renal/urinary system.

hypouricemia 7 32 43

Diseases related to hypouricemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 103)

id	Related Disease	Score	Top Affiliating Genes
1	renal hypouricemia	34.3	SLC22A12, HPRT1
2	nucleoside phosphorylase deficiency	29.2	PNP, HPRT1
3	purine nucleoside phosphorylase deficiency	29.2	HPRT1, PNP
4	nephrotic syndrome	26.6	INS, SLC22A12, ALB
5	hyperuricemia	24.4	SLC2A9, ALB, INS, HPRT1, SLC22A12, XDH
6	gout	13.1	SLC2A9, HPRT1
7	familial juvenile hyperuricemic nephropathy	12.9	HPRT1, INS
8	molybdenum cofactor deficiency	12.9	XDH, PNP
9	acute urate nephropathy	12.8	HPRT1, XDH
10	adenine phosphoribosyltransferase deficiency	12.8	XDH, HPRT1
11	pericarditis	12.7	SLC22A12, ALB
12	calciphylaxis	12.6	ALB, INS
13	hypertensive nephropathy	12.6	ALB, INS
14	metabolic syndrome x	12.6	INS, ALB
15	chronic kidney failure	12.6	INS, ALB
16	x-linked magnesium deficiency with epstein-barr virus infection and neoplasia	12.6	ALB, INS
17	gallbladder disease	12.6	ALB, INS
18	familial hyperlipidemia	12.6	ALB, INS
19	diabetes, type 2	12.6	ALB, INS
20	hypomagnesemia	12.6	INS, ALB
21	renovascular hypertension	12.6	ALB, INS
22	high blood pressure	12.6	INS, ALB
23	cystinosis	12.6	ALB, INS
24	rickets	12.5	INS, ALB
25	placental choriocarcinoma	12.5	INS, ALB
26	thyrotoxicosis	12.5	ALB, INS
27	cluster headache	12.5	ALB, INS
28	diabetic ketoacidosis	12.5	ALB, INS
29	autonomic neuropathy	12.5	ALB, INS
30	autonomic dysfunction	12.5	ALB, INS
31	peripheral vascular disease	12.4	INS, ALB
32	iron deficiency anemia	12.4	XDH, ALB
33	rheumatic fever	12.4	ALB, INS
34	adult respiratory distress syndrome	12.4	ALB, XDH
35	lesch-nyhan syndrome	12.4	PNP, HPRT1, XDH
36	nephrocalcinosis	12.4	XDH, ALB
37	bilirubin metabolic disorder	12.4	XDH, INS, PNP
38	hypokalemia	12.4	ALB, INS
39	sleep disorder	12.3	INS, ALB
40	spasticity	12.3	PNP, INS, HPRT1
41	head injury	12.3	INS, ALB
42	primary hyperoxaluria	12.3	INS, ALB, SLC22A12
43	cholecystitis	12.2	ALB, XDH
44	klebsiella	12.2	INS, ALB
45	schistosomiasis	12.2	ALB, INS, PNP
46	varicocele	12.1	XDH, ALB
47	aplastic anemia	12.1	HPRT1, INS, ALB
48	connective tissue disease	12.1	INS, HPRT1, ALB
49	myasthenia gravis	12.1	INS, HPRT1, ALB
50	congenital myasthenic syndrome	12.1	ALB, HPRT1, INS

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to hypouricemia:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	6.7	INS, SLC22A12, SLC2A9, PNP, XDH, ALB
2	renal/urinary system phenotype	MP:0005367	6.6	SLC22A12, SLC2A9, PNP, HPRT1, ALB, INS
3	homeostasis/metabolism phenotype	MP:0005376	6.4	XDH, SLC22A12, INS, ALB, HPRT1, PNP

Articles related to hypouricemia:

(show all 23)

id	Title	Authors	Year	Affiliating Genes
1	Two cases of nephrotic syndrome (NS)-induced acute ki dney injury (AKI) associated with renal hypouricemia. (21722610)	Takeda Y.... Fukagawa M.	2011	SLC22A12
2	Novel homozygous insertion in SLC2A9 gene caused rena l hypouricemia. (21256783)	Stiburkova B.... Sebesta I.	2011	SLC2A9
3	Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. (21810765)	Dinour D.... Holtzman E.J.	2011	SLC2A9
4	URAT1 mutations cause renal hypouricemia type 1 in Ir aqi Jews. (21148271)	Dinour D.... Holtzman E.J.	2011	SLC22A12
5	Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli-Arab family. (19189137)	Bahat H.... Goldman M.	2009	SLC22A12
6	Oxidative imbalance in idiopathic renal hypouricemia. (18936980)	Kaneko K.... Nozu K.	2009	SLC22A12
7	Acute renal failure after exercise in a Japanese sumo wrestler with renal hypouricemia. (19092327)	Mima A.... Fukatsu A.	2008	SLC22A12
8	A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome. (18760270)	Lam C.W.... Chan J.C.	2008	SLC22A12
9	Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. (18492088)	Ichida K.... Hosoya T.	2008	SLC22A12
10	Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. (19026395)	Matsuo H.... Shinomiya N.	2008	SLC2A9
11	Hereditary renal hypouricemia. (16678460)	Sperling O.	2006	SLC22A12
12	Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature. (16703794)	Komatsuda A.... Yamaguchi A.	2006	SLC22A12
13	Genetic analysis of idiopathic renal hypouricemia: a case report and estimation of allelic frequency of the mutation (16872008)	Mitani N.... Okamoto Y.	2006	SLC22A12
14	A case of renal hypouricemia caused by urate transporter 1 gene mutations. (16724660)	Inazu T.	2006	SLC22A12
15	Mutational analysis of idiopathic renal hypouricemia in Korea. (15912381)	Cheong H.I.... Choi Y.	2005	SLC22A12
16	Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese. (15772829)	Takahashi T.... Takada G.	2005	SLC22A12
17	Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. (15634722)	Wakida N.... Kitamura K.	2005	SLC22A12
18	A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. (15327384)	Iwai N.... Endou H.	2004	SLC22A12
19	Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. (14694169)	Ichida K.... Hosoya T.	2004	SLC22A12
20	Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. (14655203)	Tanaka M.... Tomita K.	2003	SLC22A12
21	Hypouricemia and hyperuricemia in type 2 diabetes: two different phenotypes. (11298778)	Bo S.... Pagano G.	2001	ALB, INS
22	Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen. (8665699)	Timms P.M.... Bold A.M.	1996	PNP
23	Hypouricemia and cellular immunodeficiency associated with purine-nucleoside phosphorylase deficiency (1929018)	GarcA-a AmorA-n Z.... LA^pez Sastre J.	1991	PNP

Genes related to hypouricemia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SLC22A12	solute carrier family 22 (organic anion/urate transporter), member 12	11.1	Summaries, Publications
2	SLC2A9	solute carrier family 2 (facilitated glucose transporter), member 9	11.0	Publications
3	PNP	purine nucleoside phosphorylase	11.0	Publications
4	HPRT1	hypoxanthine phosphoribosyltransferase 1	11.0
5	XDH	xanthine dehydrogenase	11.0
6	INS	insulin	11.0	Publications
7	ALB	albumin	11.0	Publications

Pathways related to hypouricemia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Purine catabolism38	9.4	XDH, PNP
2	Drug metabolism - other enzymes20	9.3	XDH, HPRT1
3	Selected targets of HNF110	8.8	INS, ALB
4	Purine metabolism20	8.8	XDH, HPRT1, PNP

Compounds related to hypouricemia according to GeneDecks:

(show top 50)    (show all 51)

id	Compound	Score	Top Affiliating Genes
1	ascorbic acid32 18	11.2	HPRT1
2	9-deazaguanine32 9 9	11.9	HPRT1, PNP
3	8-azaguanine32 9 9	11.9	PNP, HPRT1
4	benzbromarone32	9.9	XDH, SLC22A12
5	pyrazinamide34 32 9 9	12.9	SLC22A12, XDH
6	didanosine32 9 9	11.9	PNP, HPRT1
7	febuxostat32 42	10.8	PNP, XDH
8	6 thioguanine32	9.8	PNP, HPRT1
9	deoxyguanosine32 18	10.8	PNP, HPRT1
10	6-thiouric acid32	9.8	HPRT1, XDH
11	2,8-dihydroxyadenine32	9.8	HPRT1, XDH
12	prpp32	9.8	HPRT1, PNP
13	Bismuth Subsalicylate9 9	10.7	XDH, ALB
14	molybdenum32 18	10.7	XDH, PNP
15	mercaptopurine34 9 9	11.7	HPRT1, XDH
16	tiazofurin32	9.7	XDH, HPRT1
17	dgtp32 18	10.7	HPRT1, PNP
18	inosine monophosphate32	9.7	PNP, HPRT1
19	deoxycytidine32 18	10.6	HPRT1, PNP
20	6 mercaptopurine32	9.6	HPRT1, XDH
21	dtpa32	9.6	XDH, ALB
22	allopurinol32 9 9	11.6	HPRT1, XDH
23	nn30432	9.6	ALB, INS
24	mycophenolate mofetil32 9 9	11.5	HPRT1, ALB
25	repaglinide32 42 9 9	12.5	ALB, INS
26	fructosamine32 18	10.5	INS, ALB
27	ramipril32 9 9	11.5	INS, ALB
28	gliclazide32 34 9 9	12.5	ALB, INS
29	nateglinide32 42 9 9	12.5	ALB, INS
30	telmisartan32 9 9	11.4	INS, ALB
31	probenecid32 9 9	11.4	SLC22A12, XDH, ALB
32	losartan32 34 9 9	12.4	ALB, SLC22A12, XDH
33	acetaldehyde32 18	10.3	HPRT1, XDH
34	folate32	9.3	HPRT1, PNP, ALB
35	thiopurine32	9.3	HPRT1, XDH, PNP
36	purine nucleoside32	9.3	XDH, HPRT1, PNP
37	inosine32 18	10.3	HPRT1, PNP, XDH
38	hypoxanthine32 9 18 9	12.3	HPRT1, XDH, PNP
39	xanthine32 18	10.3	PNP, HPRT1, XDH
40	azathioprine32 34 9 9	12.3	HPRT1, PNP, XDH
41	purine32 18	10.3	PNP, HPRT1, XDH
42	adenine32 9 18 9	12.3	XDH, HPRT1, PNP
43	guanine32 9 18 9	12.2	HPRT1, PNP, XDH
44	niacin32 9 9	11.1	HPRT1, INS
45	8-isoprostane32	9.1	XDH, INS
46	lactate32	8.4	XDH, PNP, ALB, INS
47	cysteine32	8.3	PNP, ALB, HPRT1, XDH
48	creatinine32	8.2	SLC22A12, INS, HPRT1, ALB, PNP
49	glucose32	8.0	INS, PNP, SLC2A9, ALB
50	uric acid32 18	8.6	PNP, HPRT1, ALB, INS, XDH, SLC22A12

Biological processes related to hypouricemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	urate metabolic process	GO:046415	9.7	SLC22A12, SLC2A9
2	purine nucleotide catabolic process	GO:006195	9.3	XDH, PNP
3	purine-containing compound salvage	GO:043101	9.2	PNP, HPRT1
4	purine nucleobase metabolic process	GO:006144	9.0	XDH, HPRT1, PNP
5	nucleobase-containing small molecule metabolic process	GO:055086	8.9	HPRT1, XDH, PNP
6	small molecule metabolic process	GO:044281	7.5	PNP, HPRT1, ALB, XDH, INS