MCID: HYP758
MIFTS: 40

Hyperuricemic Nephropathy, Familial Juvenile, 1

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases

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:



External Ids:

OMIM 57 162000
Disease Ontology 12 DOID:0060062
Orphanet 59 ORPHA209886
MedGen 42 C0268113
MeSH 44 D007674
KEGG 37 H02011
UMLS 73 C0268113

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.

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:



Diseases related to Hyperuricemic Nephropathy, Familial Juvenile, 1

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 Frequency 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

Drugs & Therapeutics for Hyperuricemic Nephropathy, Familial Juvenile, 1

Search Clinical Trials , NIH Clinical Center 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:

41
Kidney

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 )
2014
2
Familial juvenile hyperuricemic nephropathy 1 (FJHN1). ( 25856955 )
2014
3
Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. ( 23988501 )
2013
4
A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy. ( 28509303 )
2013
5
Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy. ( 24577984 )
2013
6
Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. ( 22776760 )
2012
7
A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene. ( 23197950 )
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 )
2012
9
[Familial juvenile hyperuricemic nephropathy]. ( 22193138 )
2012
10
A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. ( 21060763 )
2010
11
Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. ( 19203555 )
2009
12
[Familial juvenile hyperuricemic nephropathy (FJHN)]. ( 18409515 )
2008
13
Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. ( 17151335 )
2007
14
Disappearance of tophi in familial juvenile hyperuricemic nephropathy after kidney transplantation. ( 17868056 )
2007
15
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. ( 15673476 )
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 )
2005
17
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. ( 15086896 )
2004
18
Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. ( 12519891 )
2003
19
Stopping progression in familial juvenile hyperuricemic nephropathy with benzbromarone? ( 14531831 )
2003
20
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. ( 12629136 )
2003
21
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. ( 14569098 )
2003
22
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. ( 12675839 )
2003
23
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? ( 11675411 )
2001
24
Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. ( 10780922 )
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 )
2000
26
Familial Juvenile Hyperuricemic Nephropathy Type 2 ( 21473025 )
1993

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

Expression for Hyperuricemic Nephropathy, Familial Juvenile, 1

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

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

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 for Hyperuricemic Nephropathy, Familial Juvenile, 1

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