Familial Juvenile Hyperuricemic Nephropathy malady

Genetics Home Reference: Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family.¹⁷

MalaCards: Familial Juvenile Hyperuricemic Nephropathy, also known as hyperuricemic nephropathy, familial juvenile, is related to nephropathy and glomerulocystic kidney disease. An important gene associated with Familial Juvenile Hyperuricemic Nephropathy is UMOD (uromodulin), and among its related pathways is Selected targets of HNF1. The compounds potassium and uric acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are homeostasis/metabolism and growth/size.

Disease Ontology: A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.⁶

Aliases & Descriptions:

familial juvenile hyperuricemic nephropathy 6 8 hyperuricemic nephropathy, familial juvenile 32

nephropathy, hyperuricemic 43 familial juvenile gout 43

Disease types for familial juvenile hyperuricemic nephropathy family:

familial juvenile hyperuricemic nephropathy type 2

Diseases related to familial juvenile hyperuricemic nephropathy by text searches and GeneDecks gene sharing:

(show all 41)

id	Related Disease	Score	Top Affiliating Genes
1	nephropathy	33.7	UMOD, REN, HNF1B, NPHP1
2	glomerulocystic kidney disease	31.3	UMOD, HNF1B
3	cystic kidney	31.2	UMOD, HNF1B
4	gout	30.2	UMOD, HNF1B, SLC22A12
5	bartter disease	13.1	REN, UMOD
6	orofaciodigital syndrome	13.0	KIF3A, OFD1
7	pericarditis	12.8	SLC22A12, REN
8	horseshoe kidney	12.8	HNF1B, REN
9	renal tubular acidosis	12.8	UMOD, REN
10	hypomagnesemia	12.8	REN, HNF1B
11	polycystic kidney disease	12.8	UMOD, HNF1B
12	end stage renal failure	12.6	UMOD, NPHP4
13	vesicoureteral reflux	12.5	REN, UMOD, HNF1B
14	fibrous dysplasia	12.5	NPHP1, UMOD
15	nephronophthisis 4	12.5	NPHP4, NPHP1
16	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	12.5	NPHP1, OFD1
17	oculomotor apraxia	12.5	NPHP1, OFD1
18	nephronophthisis 1	12.5	NPHP4, NPHP1
19	senior-loken syndrome	12.4	NPHP1, NPHP4
20	developmental disabilities	12.3	HNF1B, OFD1
21	nephronopthisis	12.2	NPHP1, NPHP4, UMOD
22	nephronophthisis	12.2	NPHP4, NPHP1, UMOD
23	was-related disorders	12.2	REN, NPHP1, KIF3A
24	situs inversus	12.1	NPHP4, NPHP1, KIF3A
25	hyperuricemia	12.1	REN, HNF1B, SLC22A12, UMOD
26	asphyxiating thoracic dystrophy	12.1	OFD1, NPHP1, NPHP4
27	joubert syndrome	12.1	NPHP1, NPHP4, OFD1
28	nephritis	12.1	REN, NPHP1, UMOD
29	apraxia	12.0	NPHP1, OFD1, NPHP4
30	rhyns syndrome	11.8	NPHP1, NPHP4
31	chronic kidney failure	11.7	NPHP1, UMOD, REN, HNF1B
32	retinitis	11.0	OFD1, NPHP1, NPHP4, KIF3A, CRYM
33	hyperuricemic nephropathy	11.0
34	primary hyperoxaluria	10.8	REN, HNF1B, UMOD, OFD1, NPHP1, NPHP4
35	familial juvenile hyperuricemic nephropathy type 2	9.4
36	familial juvenile hyperuricaemic nephropathy	8.9
37	umod-associated kidney disease	8.9
38	kidney disease	8.0
39	ren-related kidney disease	8.0
40	maturity-onset diabetes of the young, type 5	8.0
41	lesch-nyhan syndrome	7.0

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to familial juvenile hyperuricemic nephropathy:

²²

MGI Mouse Phenotypes related to familial juvenile hyperuricemic nephropathy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism phenotype	MP:0005376	7.8	REN, KIF3A, UMOD, HNF1B, CRYM, SLC22A12
2	growth/size phenotype	MP:0005378	7.3	SLC22A12, CRYM, OFD1, HNF1B, UMOD, KIF3A
3	cardiovascular system phenotype	MP:0005385	7.2	SLC22A12, NPHP4, CRYM, OFD1, KIF3A, REN
4	renal/urinary system phenotype	MP:0005367	7.2	REN, SLC22A12, NPHP4, NPHP1, OFD1, UMOD

Articles related to familial juvenile hyperuricemic nephropathy:

id	Title	Authors	Year	Affiliating Genes
1	Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. (19203555)	Lhotta K.... Strazdins V.	2009	UMOD
2	Familial juvenile hyperuricemic nephropathy (FJHN) (18409515)	Kudo E.... Itakura M.	2008	UMOD
3	Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. (17151335)	Jennings P.... Pfaller W.	2007	UMOD
4	A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. (15983957)	Lens X.M.... Barrio-Lucia V.	2005	UMOD
5	A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. (15673476)	Calado J.... Rueff J.	2005	UMOD
6	Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. (15086896)	Kudo E.... Itakura M.	2004	UMOD, HNF1B
7	A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. (14569098)	Dahan K.... Pirson Y.	2003	UMOD
8	Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. (12675839)	Bingham C.... Hattersley A.T.	2003	HNF1B
9	UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (12629136)	Turner J.J.O.... Thakker R.V.	2003	UMOD
10	Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family. (10765940)	Kamatani N.... Itakura M.	2000	UMOD

Genes related to familial juvenile hyperuricemic nephropathy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	UMOD	uromodulin	11.1	Summaries, Publications
2	REN	renin	11.0
3	SLC22A12	solute carrier family 22 (organic anion/urate transporter), member 12	11.0
4	OFD1	oral-facial-digital syndrome 1	11.0
5	KIF3A	kinesin family member 3A	11.0
6	CRYM	crystallin, mu	11.0
7	HNF1B	HNF1 homeobox B	11.0	Publications
8	NPHP4	nephronophthisis 4	11.0
9	NPHP1	nephronophthisis 1 (juvenile)	11.0

Pathways related to familial juvenile hyperuricemic nephropathy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Selected targets of HNF110	9.5	UMOD, HNF1B

Compounds related to familial juvenile hyperuricemic nephropathy according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	potassium32 9 18 9	12.3	REN, UMOD, CRYM
2	uric acid32 18	9.9	UMOD, HNF1B, SLC22A12

Cellular components related to familial juvenile hyperuricemic nephropathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	primary cilium	GO:072372	9.6	KIF3A, UMOD
2	microtubule basal body	GO:005932	8.9	OFD1, NPHP4
3	centrosome	GO:005813	8.8	KIF3A, OFD1, NPHP4

Biological processes related to familial juvenile hyperuricemic nephropathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	excretion	GO:007588	9.3	UMOD, NPHP1
2	retina development in camera-type eye	GO:060041	9.1	NPHP1, NPHP4
3	visual behavior	GO:007632	9.0	NPHP1, NPHP4