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

MCID: HYP758 MIFTS: 40	Hyperuricemic Nephropathy, Familial Juvenile, 1 Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases
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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 ⁵³ ³⁷ ⁶ ¹⁵

Hyperuricemic Nephropathy, Familial Juvenile 1 ⁵⁷ ¹³

Hyperuricemic Nephropathy, Familial Juvenile ⁵⁷ ⁵⁵

Familial Juvenile Gouty Nephropathy ⁵³ ⁵⁹

Familial Nephropathy with Gout ⁵³ ⁵⁹

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 Nephropathy Associated with Hyperuricemia ⁵³

Familial Juvenile Hyperuricemic Nephropathy Type 1 ⁵⁹

Familial Juvenile Hyperuricemic Nephropathy; Fjhn ⁵⁷

Familial Juvenile Hyperuricemic Nephropathy 1 ⁷⁵

Gouty Nephropathy, Familial Juvenile ⁵⁷

Gouty Nephropathy Familial Juvenile ⁷⁵

Nephropathy, Familial, with Gout ⁵⁷

Nephropathy Familial with Gout ⁷⁵

Gouty Nephropathy, Familial ⁵³

Juvenile Gouty Nephropathy ⁵³

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:
onset of hyperuricemia or gout in young adulthood
progressive disorder

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic 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 hyperuricemia. 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, and related phenotypes are renal insufficiency and tubular atrophy

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 29)

#	Related Disease	Score	Top Affiliating Genes
1	hyperuricemic nephropathy, familial juvenile, 3	34.2	HNF1B HNFJ3
2	hyperuricemia	29.5	HPRT1 SLC22A12 UMOD
3	hyperuricemic nephropathy, familial juvenile, 2	12.4
4	hyperuricemic nephropathy, familial juvenile, 4	12.4
5	autosomal dominant tubulointerstitial kidney disease, umod-related	11.4
6	familial juvenile hyperuricaemic nephropathy	11.4
7	renal cysts and diabetes syndrome	11.4
8	autosomal dominant tubulointerstitial kidney disease due to ren mutations	11.2
9	ren-related kidney disease	11.2
10	autosomal dominant tubulointerstitial kidney disease	10.2	MUC1 UMOD
11	hypouricemia, renal, 1	10.1	HPRT1 SLC22A12
12	xanthinuria	10.0	HPRT1 SLC22A12
13	malignant ovarian surface epithelial-stromal neoplasm	9.9	HNF1B MUC1
14	ovary epithelial cancer	9.8	HNF1B MUC1
15	renal dysplasia	9.8	HNF1B NPHP4
16	gout	9.7	HPRT1 SLC22A12 UMOD
17	nephronophthisis 2	9.7	NPHP1 NPHP4
18	nephronophthisis 4	9.7	NPHP1 NPHP4
19	juvenile nephronophthisis	9.7	NPHP1 NPHP4
20	retinal aplasia	9.6	NPHP1 NPHP4
21	nephronophthisis 1	9.6	NPHP1 NPHP4
22	cogan syndrome	9.6	NPHP1 NPHP4
23	senior-loken syndrome 1	9.4	NPHP1 NPHP4
24	nephronophthisis	9.2	NPHP1 NPHP4 UMOD
25	renal fibrosis	9.2	NPHP1 NPHP4
26	meckel syndrome, type 1	9.0	NPHP1 NPHP4
27	kidney disease	8.7	HNF1B MUC1 NPHP1 UMOD
28	polycystic liver disease 1 with or without kidney cysts	8.1	HNF1B MUC1 NPHP1 NPHP4 UMOD
29	cystic kidney disease	8.1	HNF1B MUC1 NPHP1 NPHP4 UMOD

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
renal failure
renal biopsy shows chronic interstitial nephritis
tubular atrophy
thickening of the basement membrane
more

Hematology:
hyperuricemia

Skeletal Limbs:
gout

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	tubular atrophy ³²	HP:0000092
3	nephropathy ³²	HP:0000112
4	gout ³²	HP:0001997

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	9.1	HNF1B HPRT1 NPHP1 NPHP4 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

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Publications for Hyperuricemic Nephropathy, Familial Juvenile, 1

Articles related to Hyperuricemic Nephropathy, Familial Juvenile, 1:

(show all 26)

#	Title	Authors	Year
1	Gout as a manifestation of familial juvenile hyperuricemic nephropathy. ( 25417683 )	Spain H....Mikuls T.R.	2014
2	Familial juvenile hyperuricemic nephropathy 1 (FJHN1). ( 25856955 )	Bhargava R....Agrawal A.	2014
3	Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. ( 23988501 )	Liu M....Zhao M.	2013
4	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
5	Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy. ( 24577984 )	Alaygut D....KavukAsu S.	2013
6	Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. ( 22776760 )	Wei X....Chen W.	2012
7	A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene. ( 23197950 )	Nakayama M....Taniguchi A.	2012
8	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
9	[Familial juvenile hyperuricemic nephropathy]. ( 22193138 )	Hummel A.	2012
10	A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. ( 21060763 )	Lee D.H....Lee Y.K.	2010
11	Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. ( 19203555 )	Lhotta K....Strazdins V.	2009
12	[Familial juvenile hyperuricemic nephropathy (FJHN)]. ( 18409515 )	Kudo E....Itakura M.	2008
13	Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. ( 17151335 )	Jennings P....Pfaller W.	2007
14	Disappearance of tophi in familial juvenile hyperuricemic nephropathy after kidney transplantation. ( 17868056 )	Merieau E....BA1chler M.	2007
15	A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. ( 15673476 )	Calado J....Rueff J.	2005
16	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-LucA-a V.	2005
17	Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. ( 15086896 )	Kudo E....Itakura M.	2004
18	Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. ( 12519891 )	Stacey J.M....Thakker R.V.	2003
19	Stopping progression in familial juvenile hyperuricemic nephropathy with benzbromarone? ( 14531831 )	Lhotta K.	2003
20	UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. ( 12629136 )	Turner J.J.O....Thakker R.V.	2003
21	A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. ( 14569098 )	Dahan K....Pirson Y.	2003
22	Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. ( 12675839 )	Bingham C....Hattersley A.T.	2003
23	Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? ( 11675411 )	Dahan K....Pirson Y.	2001
24	Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. ( 10780922 )	StibA^rkovA! B....Kmoch S.	2000
25	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
26	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	1581.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	12471200 20301530 15589826 (more) 12629136 16883323 12205338 22117067 12634862 20172860 14569098 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 ⁵⁷
3	HNF1B	HNF1 Homeobox B	Protein Coding	24.36	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	12675839
4	HPRT1	Hypoxanthine Phosphoribosyltransferase 1	Protein Coding	21.66	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	1912725 18409507
5	SLC22A12	Solute Carrier Family 22 Member 12	Protein Coding	16.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	16.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	NPHP1	Nephrocystin 1	Protein Coding	15.81	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	NPHP4	Nephrocystin 4	Protein Coding	15.66	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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
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

Sources

Expression for Hyperuricemic Nephropathy, Familial Juvenile, 1

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

Sources

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	cilium	GO:0005929	9.33	NPHP1 NPHP4 UMOD
2	Golgi lumen	GO:0005796	9.26	MUC1 UMOD
3	apical plasma membrane	GO:0016324	9.13	MUC1 SLC22A12 UMOD
4	photoreceptor connecting cilium	GO:0032391	8.62	NPHP1 NPHP4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary basal body-plasma membrane docking	GO:0097711	9.32	NPHP1 NPHP4
2	retina development in camera-type eye	GO:0060041	9.26	NPHP1 NPHP4
3	excretion	GO:0007588	9.16	NPHP1 UMOD
4	visual behavior	GO:0007632	8.96	NPHP1 NPHP4
5	positive regulation of bicellular tight junction assembly	GO:1903348	8.62	NPHP1 NPHP4

Sources

Sources for Hyperuricemic Nephropathy, Familial Juvenile, 1

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