Hyperuricemic Nephropathy, Familial Juvenile, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HNFJ1 MCID: HYP758 MIFTS: 39	Hyperuricemic Nephropathy, Familial Juvenile, 1 (HNFJ1) Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Hyperuricemic Nephropathy, Familial Juvenile, 1

MalaCards integrated aliases for Hyperuricemic Nephropathy, Familial Juvenile, 1:

Name: Hyperuricemic Nephropathy, Familial Juvenile, 1 ⁵⁷

Familial Juvenile Hyperuricemic Nephropathy ⁵⁷ ¹² ³⁷ ⁶ ¹⁵

Hyperuricemic Nephropathy, Familial Juvenile 1 ⁵⁷ ¹³

Hyperuricemic Nephropathy, Familial Juvenile ⁵⁷ ⁵⁵

Hnfj1 ⁵⁷ ⁷⁵

Fjhn ⁵⁷ ⁷⁵

Umod-Associated Familial Juvenile Hyperuricemic Nephropathy ⁵⁹

Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1 ⁴⁰

Hyperuricemic Nephropathy, Familial Juvenile; Hnfj ⁵⁷

Familial Juvenile Hyperuricemic Nephropathy Type 1 ⁵⁹

Familial Juvenile Hyperuricemic Nephropathy; Fjhn ⁵⁷

Familial Juvenile Hyperuricemic Nephropathy 1 ⁷⁵

Gouty Nephropathy, Familial Juvenile ⁵⁷

Familial Juvenile Gouty Nephropathy ⁵⁹

Gouty Nephropathy Familial Juvenile ⁷⁵

Nephropathy, Familial, with Gout ⁵⁷

Familial Nephropathy with Gout ⁵⁹

Nephropathy Familial with Gout ⁷⁵

Familial Juvenile Gout ⁷³

Umod-Associated Fjhn ⁵⁹

Fjhn Type 1 ⁵⁹

Fjhn1 ⁷⁵

Hnfj ⁵⁷

Characteristics:

Orphanet epidemiological data:

⁵⁹

familial juvenile hyperuricemic nephropathy type 1
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset of hyperuricemia or gout in young adulthood

HPO:

³²

hyperuricemic nephropathy, familial juvenile, 1:
Onset and clinical course juvenile onset progressive
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare renal diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 162000

Disease Ontology ¹² DOID:0060062

Orphanet ⁵⁹ ORPHA209886

MedGen ⁴² C0268113

MeSH ⁴⁴ D007674

KEGG ³⁷ H02011

SNOMED-CT via HPO ⁶⁹ 263681008 236423003 42399005 more

UMLS ⁷³ C0268113

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Summaries for Hyperuricemic Nephropathy, Familial Juvenile, 1

OMIM : ⁵⁷ Familial juvenile hyperuricemic (gouty) nephropathy (HNFJ) is an autosomal dominant disorder characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid, defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure (summary by Piret et al., 2011). A form of medullary cystic kidney disease (MCKD2; 603860) is also caused by mutation in the UMOD gene, as is a form of glomerulocystic kidney disease (609886) with hyperuricemia and isosthenuria. (162000)

MalaCards based summary : Hyperuricemic Nephropathy, Familial Juvenile, 1, also known as familial juvenile hyperuricemic nephropathy, is related to hyperuricemic nephropathy, familial juvenile, 3 and autosomal dominant tubulointerstitial kidney disease. An important gene associated with Hyperuricemic Nephropathy, Familial Juvenile, 1 is UMOD (Uromodulin), and among its related pathways/superpathways is Renin-angiotensin system. Affiliated tissues include kidney, liver and ovary, and related phenotypes are renal insufficiency and nephropathy

Disease Ontology : ¹² A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.

UniProtKB/Swiss-Prot : ⁷⁵ Familial juvenile hyperuricemic nephropathy 1: A renal disease characterized by juvenile onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis.

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Related Diseases for Hyperuricemic Nephropathy, Familial Juvenile, 1

Diseases in the Hyperuricemic Nephropathy, Familial Juvenile, 1 family:

Hyperuricemic Nephropathy, Familial Juvenile, 2	Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemic Nephropathy, Familial Juvenile, 4

Diseases related to Hyperuricemic Nephropathy, Familial Juvenile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)

#	Related Disease	Score	Top Affiliating Genes
1	hyperuricemic nephropathy, familial juvenile, 3	33.9	HNFJ3 HNF1B
2	autosomal dominant tubulointerstitial kidney disease	32.0	UMOD MUC1 HNF1B
3	gout	30.3	HPRT1 SLC22A12 UMOD
4	kidney disease	30.1	HNF1B MUC1 NPHP1 UMOD
5	hyperuricemia	29.9	SLC22A12 UMOD HPRT1
6	cystic kidney disease	29.8	UMOD NPHP1 MUC1 HNF1B
7	hyperuricemic nephropathy, familial juvenile, 2	12.6
8	hyperuricemic nephropathy, familial juvenile, 4	12.5
9	uromodulin-associated kidney disease	11.9
10	autosomal dominant tubulointerstitial kidney disease, umod-related	11.6
11	renal cysts and diabetes syndrome	11.6
12	nephronophthisis	11.4
13	autosomal dominant tubulointerstitial kidney disease, ren-related	11.4
14	ren-related kidney disease	11.4
15	chronic kidney failure	10.4
16	nephronophthisis 19	10.0	UMOD NPHP1
17	cakut	9.9	UMOD HNF1B
18	hypouricemia, renal, 1	9.9	HPRT1 SLC22A12
19	xanthinuria	9.9	SLC22A12 HPRT1
20	ovary epithelial cancer	9.8	MUC1 HNF1B
21	malignant ovarian surface epithelial-stromal neoplasm	9.8	MUC1 HNF1B
22	nephrolithiasis	9.8	UMOD SLC22A12 HPRT1
23	connective tissue disease	9.7	MUC1 HPRT1
24	polycystic liver disease 1 with or without kidney cysts	9.6	UMOD NPHP1 MUC1 HNF1B

Graphical network of the top 20 diseases related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

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Symptoms & Phenotypes for Hyperuricemic Nephropathy, Familial Juvenile, 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Genitourinary Kidneys:
nephropathy
tubular atrophy
renal failure
renal biopsy shows chronic interstitial nephritis
thickening of the basement membrane
more

Skeletal Limbs:
gout

Hematology:
hyperuricemia

Laboratory Abnormalities:
decreased urinary excretion of uromodulin

Clinical features from OMIM:

162000

Human phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

³²

#	Description	HPO Source Accession
1	renal insufficiency ³²	HP:0000083
2	nephropathy ³²	HP:0000112
3	gout ³²	HP:0001997
4	nephritis ³²	HP:0000123
5	tubular atrophy ³²	HP:0000092

MGI Mouse Phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system	MP:0005367	9.02	HNF1B HPRT1 NPHP1 SLC22A12 UMOD

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Drugs & Therapeutics for Hyperuricemic Nephropathy, Familial Juvenile, 1

Search Clinical Trials , NIH Clinical Center for Hyperuricemic Nephropathy, Familial Juvenile, 1

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Genetic Tests for Hyperuricemic Nephropathy, Familial Juvenile, 1

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Anatomical Context for Hyperuricemic Nephropathy, Familial Juvenile, 1

MalaCards organs/tissues related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

⁴¹

Kidney, Liver, Ovary

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Publications for Hyperuricemic Nephropathy, Familial Juvenile, 1

Articles related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

(show all 29)

#	Title	Authors	Year
1	First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD. ( 27489562 )	Malakoutian T...Behnam B	2016
2	Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families. ( 27764983 )	Kaminska-Pajak KA...Tkaczyk M	2016
3	A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy. ( 27795632 )	Saxena D...Phadke SR	2016
4	Gout as a manifestation of familial juvenile hyperuricemic nephropathy. ( 25417683 )	Spain H....Mikuls T.R.	2014
5	Familial juvenile hyperuricemic nephropathy 1 (FJHN1). ( 25856955 )		2014
6	Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. ( 23988501 )	Liu M....Zhao M.	2013
7	A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy. ( 28509303 )	Iguchi A....Narita I.	2013
8	Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy. ( 24577984 )	Alaygut D....KavukAsu S.	2013
9	Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. ( 22776760 )	Wei X....Chen W.	2012
10	A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene. ( 23197950 )	Nakayama M....Taniguchi A.	2012
11	Tophus gout and chronic kidney disease in a young female patient: report of familial juvenile hyperuricemic nephropathy in three generations of the same family. ( 21909621 )	Medeiros M.M....Daher E.F.	2012
12	[Familial juvenile hyperuricemic nephropathy]. ( 22193138 )		2012
13	A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. ( 21060763 )		2010
14	Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. ( 19203555 )	Lhotta K....Strazdins V.	2009
15	[Familial juvenile hyperuricemic nephropathy (FJHN)]. ( 18409515 )		2008
16	Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. ( 17151335 )	Jennings P....Pfaller W.	2007
17	Disappearance of tophi in familial juvenile hyperuricemic nephropathy after kidney transplantation. ( 17868056 )		2007
18	A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. ( 15673476 )	Calado J....Rueff J.	2005
19	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 )		2005
20	Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. ( 15086896 )	Kudo E....Itakura M.	2004
21	Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. ( 12519891 )	Stacey J.M....Thakker R.V.	2003
22	Stopping progression in familial juvenile hyperuricemic nephropathy with benzbromarone? ( 14531831 )	Lhotta K.	2003
23	UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. ( 12629136 )	Turner J.J.O....Thakker R.V.	2003
24	A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. ( 14569098 )		2003
25	Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. ( 12675839 )		2003
26	Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? ( 11675411 )		2001
27	Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. ( 10780922 )	StibA^rkovA! B....Kmoch S.	2000
28	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 )		2000
29	Familial Juvenile Hyperuricemic Nephropathy Type 2 ( 21473025 )	Pagon R.A....Stephens K.	1993

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Genes for Hyperuricemic Nephropathy, Familial Juvenile, 1

Genes related to Hyperuricemic Nephropathy, Familial Juvenile, 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	UMOD	Uromodulin	Protein Coding	1581.27	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	12471200 20301530 15589826 (more) 12629136 16883323 12205338 22117067 12634862 14569098 20172860 15983957 18409514 12900848 19203555 12629136 14569098 17245395 16582687 15673476 18846391 14520616 18409506 20172860 17151335 18600511 20497759 14531790 15989109 18349750 18950917
2	HNFJ3	Hyperuricemic Nephropathy, Familial Juvenile, 3	Genetic Locus	50	MalaCards inferred ⁴¹
3	HNF1B	HNF1 Homeobox B	Protein Coding	23.93	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	12675839
4	HPRT1	Hypoxanthine Phosphoribosyltransferase 1	Protein Coding	21.6	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	1912725 18409507
5	SLC22A12	Solute Carrier Family 22 Member 12	Protein Coding	16.06	DISEASES inferred ¹⁵
6	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	15.91	DISEASES inferred ¹⁵
7	NPHP1	Nephrocystin 1	Protein Coding	15.76	DISEASES inferred ¹⁵

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Variations for Hyperuricemic Nephropathy, Familial Juvenile, 1

UniProtKB/Swiss-Prot genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 1:

⁷⁵ (show all 33)

#	Symbol	AA change	Variation ID	SNP ID
1	UMOD	p.Cys148Tyr	VAR_017667	rs28934582
2	UMOD	p.Cys217Arg	VAR_017668	rs28934583
3	UMOD	p.Cys77Tyr	VAR_025950	rs121917768
4	UMOD	p.Cys126Arg	VAR_025952	rs121917769
5	UMOD	p.Asn128Ser	VAR_025953	rs121917770
6	UMOD	p.Cys148Trp	VAR_025954
7	UMOD	p.Cys150Ser	VAR_025955
8	UMOD	p.Cys223Tyr	VAR_025956
9	UMOD	p.Cys248Trp	VAR_025958	rs886043751
10	UMOD	p.Cys255Tyr	VAR_025959	rs121917771
11	UMOD	p.Cys300Gly	VAR_025960	rs121917772
12	UMOD	p.Cys317Tyr	VAR_025962
13	UMOD	p.Val109Glu	VAR_071398	rs780462125
14	UMOD	p.Trp230Arg	VAR_071399
15	UMOD	p.Pro236Gln	VAR_071400
16	UMOD	p.Ala461Glu	VAR_071401
17	UMOD	p.Cys52Trp	VAR_073052
18	UMOD	p.Asp59Ala	VAR_073053
19	UMOD	p.Cys112Arg	VAR_073054
20	UMOD	p.Cys135Ser	VAR_073055
21	UMOD	p.Cys170Tyr	VAR_073057
22	UMOD	p.Arg185Ser	VAR_073058
23	UMOD	p.Cys195Phe	VAR_073059
24	UMOD	p.Trp202Ser	VAR_073060
25	UMOD	p.Arg204Gly	VAR_073061
26	UMOD	p.Cys217Gly	VAR_073062	rs28934583
27	UMOD	p.Arg222Pro	VAR_073063
28	UMOD	p.Thr225Met	VAR_073064
29	UMOD	p.Pro236Leu	VAR_073065	rs144745897
30	UMOD	p.Pro236Arg	VAR_073066
31	UMOD	p.Cys282Arg	VAR_073067
32	UMOD	p.Gln316Pro	VAR_073068
33	UMOD	p.Cys347Gly	VAR_073069

ClinVar genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 1:

⁶ (show top 50) (show all 74)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	UMOD	NM_003361.3(UMOD): c.529_555del27 (p.His177_Arg185del)	deletion	Pathogenic		GRCh37	Chromosome 16, 20360068: 20360094
2	UMOD	NM_003361.3(UMOD): c.529_555del27 (p.His177_Arg185del)	deletion	Pathogenic		GRCh38	Chromosome 16, 20348746: 20348772
3	UMOD	NM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)	single nucleotide variant	Pathogenic	rs28934582	GRCh37	Chromosome 16, 20360180: 20360180
4	UMOD	NM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)	single nucleotide variant	Pathogenic	rs28934582	GRCh38	Chromosome 16, 20348858: 20348858
5	UMOD	NM_003361.3(UMOD): c.649T> C (p.Cys217Arg)	single nucleotide variant	Pathogenic	rs28934583	GRCh37	Chromosome 16, 20359974: 20359974
6	UMOD	NM_003361.3(UMOD): c.649T> C (p.Cys217Arg)	single nucleotide variant	Pathogenic	rs28934583	GRCh38	Chromosome 16, 20348652: 20348652
7	UMOD	NM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)	single nucleotide variant	Pathogenic	rs121917768	GRCh37	Chromosome 16, 20360393: 20360393
8	UMOD	NM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)	single nucleotide variant	Pathogenic	rs121917768	GRCh38	Chromosome 16, 20349071: 20349071
9	UMOD	NM_003361.3(UMOD): c.376T> C (p.Cys126Arg)	single nucleotide variant	Pathogenic	rs121917769	GRCh37	Chromosome 16, 20360247: 20360247
10	UMOD	NM_003361.3(UMOD): c.376T> C (p.Cys126Arg)	single nucleotide variant	Pathogenic	rs121917769	GRCh38	Chromosome 16, 20348925: 20348925
11	UMOD	NM_003361.3(UMOD): c.383A> G (p.Asn128Ser)	single nucleotide variant	Pathogenic	rs121917770	GRCh37	Chromosome 16, 20360240: 20360240
12	UMOD	NM_003361.3(UMOD): c.383A> G (p.Asn128Ser)	single nucleotide variant	Pathogenic	rs121917770	GRCh38	Chromosome 16, 20348918: 20348918
13	UMOD	NM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)	single nucleotide variant	Pathogenic	rs121917771	GRCh37	Chromosome 16, 20359859: 20359859
14	UMOD	NM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)	single nucleotide variant	Pathogenic	rs121917771	GRCh38	Chromosome 16, 20348537: 20348537
15	UMOD	NM_003361.3(UMOD): c.898T> G (p.Cys300Gly)	single nucleotide variant	Pathogenic	rs121917772	GRCh37	Chromosome 16, 20359620: 20359620
16	UMOD	NM_003361.3(UMOD): c.898T> G (p.Cys300Gly)	single nucleotide variant	Pathogenic	rs121917772	GRCh38	Chromosome 16, 20348298: 20348298
17	UMOD	NM_003361.3(UMOD): c.817G> T (p.Val273Phe)	single nucleotide variant	Pathogenic	rs121917774	GRCh37	Chromosome 16, 20359806: 20359806
18	UMOD	NM_003361.3(UMOD): c.817G> T (p.Val273Phe)	single nucleotide variant	Pathogenic	rs121917774	GRCh38	Chromosome 16, 20348484: 20348484
19	UMOD	NM_003361.3(UMOD): c.649T> G (p.Cys217Gly)	single nucleotide variant	Pathogenic	rs28934583	GRCh37	Chromosome 16, 20359974: 20359974
20	UMOD	NM_003361.3(UMOD): c.649T> G (p.Cys217Gly)	single nucleotide variant	Pathogenic	rs28934583	GRCh38	Chromosome 16, 20348652: 20348652
21	UMOD	NM_003361.3(UMOD): c.743G> C (p.Cys248Ser)	single nucleotide variant	Pathogenic	rs398122388	GRCh37	Chromosome 16, 20359880: 20359880
22	UMOD	NM_003361.3(UMOD): c.743G> C (p.Cys248Ser)	single nucleotide variant	Pathogenic	rs398122388	GRCh38	Chromosome 16, 20348558: 20348558
23	UMOD	NM_003361.3(UMOD): c.840C> T (p.Pro280=)	single nucleotide variant	Benign	rs78691203	GRCh37	Chromosome 16, 20359783: 20359783
24	UMOD	NM_003361.3(UMOD): c.840C> T (p.Pro280=)	single nucleotide variant	Benign	rs78691203	GRCh38	Chromosome 16, 20348461: 20348461
25	UMOD	NM_003361.3(UMOD): c.1680C> G (p.Asp560Glu)	single nucleotide variant	Uncertain significance	rs200473249	GRCh38	Chromosome 16, 20337351: 20337351
26	UMOD	NM_003361.3(UMOD): c.1680C> G (p.Asp560Glu)	single nucleotide variant	Uncertain significance	rs200473249	GRCh37	Chromosome 16, 20348673: 20348673
27	REN	NM_000537.3(REN): c.204A> C (p.Thr68=)	single nucleotide variant	Benign	rs5705	GRCh37	Chromosome 1, 204131186: 204131186
28	REN	NM_000537.3(REN): c.204A> C (p.Thr68=)	single nucleotide variant	Benign	rs5705	GRCh38	Chromosome 1, 204162058: 204162058
29	UMOD	NM_003361.3(UMOD): c.744C> G (p.Cys248Trp)	single nucleotide variant	Pathogenic	rs886043751	GRCh37	Chromosome 16, 20359879: 20359879
30	UMOD	NM_003361.3(UMOD): c.744C> G (p.Cys248Trp)	single nucleotide variant	Pathogenic	rs886043751	GRCh38	Chromosome 16, 20348557: 20348557
31	UMOD	NM_003361.3(UMOD): c.1372G> T (p.Val458Leu)	single nucleotide variant	Benign	rs55772253	GRCh37	Chromosome 16, 20352618: 20352618
32	UMOD	NM_003361.3(UMOD): c.1372G> T (p.Val458Leu)	single nucleotide variant	Benign	rs55772253	GRCh38	Chromosome 16, 20341296: 20341296
33	REN	NM_000537.3(REN): c.1076A> T (p.Lys359Ile)	single nucleotide variant	Uncertain significance	rs774166976	GRCh37	Chromosome 1, 204124289: 204124289
34	REN	NM_000537.3(REN): c.1076A> T (p.Lys359Ile)	single nucleotide variant	Uncertain significance	rs774166976	GRCh38	Chromosome 1, 204155161: 204155161
35	REN	NM_000537.3(REN): c.961-12C> A	single nucleotide variant	Uncertain significance	rs886045834	GRCh37	Chromosome 1, 204125058: 204125058
36	REN	NM_000537.3(REN): c.961-12C> A	single nucleotide variant	Uncertain significance	rs886045834	GRCh38	Chromosome 1, 204155930: 204155930
37	REN	NM_000537.3(REN): c.630C> T (p.Phe210=)	single nucleotide variant	Likely benign	rs141706094	GRCh37	Chromosome 1, 204128586: 204128586
38	REN	NM_000537.3(REN): c.630C> T (p.Phe210=)	single nucleotide variant	Likely benign	rs141706094	GRCh38	Chromosome 1, 204159458: 204159458
39	REN	NM_000537.3(REN): c.492+12C> T	single nucleotide variant	Uncertain significance	rs548625937	GRCh37	Chromosome 1, 204129676: 204129676
40	REN	NM_000537.3(REN): c.492+12C> T	single nucleotide variant	Uncertain significance	rs548625937	GRCh38	Chromosome 1, 204160548: 204160548
41	REN	NM_000537.3(REN): c.267G> T (p.Glu89Asp)	single nucleotide variant	Uncertain significance	rs886045835	GRCh37	Chromosome 1, 204130526: 204130526
42	REN	NM_000537.3(REN): c.267G> T (p.Glu89Asp)	single nucleotide variant	Uncertain significance	rs886045835	GRCh38	Chromosome 1, 204161398: 204161398
43	REN	NM_000537.3(REN): c.9A> T (p.Gly3=)	single nucleotide variant	Likely benign	rs5704	GRCh38	Chromosome 1, 204166285: 204166285
44	REN	NM_000537.3(REN): c.9A> T (p.Gly3=)	single nucleotide variant	Likely benign	rs5704	GRCh37	Chromosome 1, 204135413: 204135413
45	REN	NM_000537.3(REN): c.744C> A (p.Asp248Glu)	single nucleotide variant	Uncertain significance	rs747881047	GRCh37	Chromosome 1, 204125879: 204125879
46	REN	NM_000537.3(REN): c.744C> A (p.Asp248Glu)	single nucleotide variant	Uncertain significance	rs747881047	GRCh38	Chromosome 1, 204156751: 204156751
47	REN	NM_000537.3(REN): c.649G> A (p.Gly217Arg)	single nucleotide variant	Benign	rs11571117	GRCh37	Chromosome 1, 204128567: 204128567
48	REN	NM_000537.3(REN): c.649G> A (p.Gly217Arg)	single nucleotide variant	Benign	rs11571117	GRCh38	Chromosome 1, 204159439: 204159439
49	REN	NM_000537.3(REN): c.492+3A> G	single nucleotide variant	Likely benign	rs5706	GRCh37	Chromosome 1, 204129685: 204129685
50	REN	NM_000537.3(REN): c.492+3A> G	single nucleotide variant	Likely benign	rs5706	GRCh38	Chromosome 1, 204160557: 204160557

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Expression for Hyperuricemic Nephropathy, Familial Juvenile, 1

Search GEO for disease gene expression data for Hyperuricemic Nephropathy, Familial Juvenile, 1.

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Pathways for Hyperuricemic Nephropathy, Familial Juvenile, 1

Pathways related to Hyperuricemic Nephropathy, Familial Juvenile, 1 according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Renin-angiotensin system	hsa04614

Sources

GO Terms for Hyperuricemic Nephropathy, Familial Juvenile, 1

Cellular components related to Hyperuricemic Nephropathy, Familial Juvenile, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Golgi lumen	GO:0005796	8.96	MUC1 UMOD
2	apical plasma membrane	GO:0016324	8.8	MUC1 SLC22A12 UMOD

Biological processes related to Hyperuricemic Nephropathy, Familial Juvenile, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	excretion	GO:0007588	8.62	NPHP1 UMOD

Sources

Sources for Hyperuricemic Nephropathy, Familial Juvenile, 1

¹ BioSystems

² BitterDB

³ CDC

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²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

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²⁵ Genetics Home Reference

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²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

⁴⁹ NCI

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Hyperuricemic Nephropathy, Familial Juvenile, 1 (HNFJ1)

Aliases & Classifications for Hyperuricemic Nephropathy, Familial Juvenile, 1

MalaCards integrated aliases for Hyperuricemic Nephropathy, Familial Juvenile, 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hyperuricemic Nephropathy, Familial Juvenile, 1

Related Diseases for Hyperuricemic Nephropathy, Familial Juvenile, 1

Diseases in the Hyperuricemic Nephropathy, Familial Juvenile, 1 family:

Diseases related to Hyperuricemic Nephropathy, Familial Juvenile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

Symptoms & Phenotypes for Hyperuricemic Nephropathy, Familial Juvenile, 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

MGI Mouse Phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

Drugs & Therapeutics for Hyperuricemic Nephropathy, Familial Juvenile, 1

Genetic Tests for Hyperuricemic Nephropathy, Familial Juvenile, 1

Anatomical Context for Hyperuricemic Nephropathy, Familial Juvenile, 1

MalaCards organs/tissues related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

Publications for Hyperuricemic Nephropathy, Familial Juvenile, 1

Articles related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

Genes for Hyperuricemic Nephropathy, Familial Juvenile, 1

Genes related to Hyperuricemic Nephropathy, Familial Juvenile, 1 (2 elite genes):

Variations for Hyperuricemic Nephropathy, Familial Juvenile, 1

UniProtKB/Swiss-Prot genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 1:

ClinVar genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 1:

Expression for Hyperuricemic Nephropathy, Familial Juvenile, 1

Pathways for Hyperuricemic Nephropathy, Familial Juvenile, 1

Pathways related to Hyperuricemic Nephropathy, Familial Juvenile, 1 according to KEGG:

GO Terms for Hyperuricemic Nephropathy, Familial Juvenile, 1

Cellular components related to Hyperuricemic Nephropathy, Familial Juvenile, 1 according to GeneCards Suite gene sharing:

Biological processes related to Hyperuricemic Nephropathy, Familial Juvenile, 1 according to GeneCards Suite gene sharing:

Sources for Hyperuricemic Nephropathy, Familial Juvenile, 1