MCID: HYP623
MIFTS: 35

Hyperuricemic Nephropathy, Familial Juvenile 1 malady

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

Aliases & Classifications for Hyperuricemic Nephropathy, Familial Juvenile 1

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Aliases & Descriptions for Hyperuricemic Nephropathy, Familial Juvenile 1:

Name: Hyperuricemic Nephropathy, Familial Juvenile 1 50 12
Familial Juvenile Hyperuricemic Nephropathy 11 46 13
Familial Juvenile Gouty Nephropathy 46 52
Familial Nephropathy with Gout 46 52
Umod-Associated Familial Juvenile Hyperuricemic Nephropathy 52
Familial Nephropathy Associated with Hyperuricemia 46
Familial Juvenile Hyperuricemic Nephropathy Type 1 52
Hyperuricemic Nephropathy, Familial Juvenile, 1 50
Familial Juvenile Hyperuricemic Nephropathy 1 68
Hyperuricemic Nephropathy, Familial Juvenile 48
 
Gouty Nephropathy Familial Juvenile 68
Nephropathy Familial with Gout 68
Gouty Nephropathy, Familial 46
Juvenile Gouty Nephropathy 46
Familial Juvenile Gout 66
Umod-Associated Fjhn 52
Fjhn Type 1 52
Hnfj1 68
Fjhn1 68
Fjhn 68

Characteristics:

Orphanet epidemiological data:

52
familial juvenile gouty nephropathy:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

62
hyperuricemic nephropathy, familial juvenile 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset, progressive


Classifications:



External Ids:

OMIM50 162000
Disease Ontology11 DOID:0060062
Orphanet52 ORPHA209886
MedGen35 C0268113
MeSH37 D006073

Summaries for Hyperuricemic Nephropathy, Familial Juvenile 1

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OMIM:50 Familial juvenile hyperuricemic (gouty) nephropathy (HNFJ) is an autosomal dominant disorder characterized by elevated... (162000) more...

MalaCards based summary: Hyperuricemic Nephropathy, Familial Juvenile 1, also known as familial juvenile hyperuricemic nephropathy, is related to hyperuricemic nephropathy, familial juvenile 2 and autosomal dominant tubulointerstitial kidney disease, ren-related, and has symptoms including renal insufficiency, tubular atrophy and nephropathy. An important gene associated with Hyperuricemic Nephropathy, Familial Juvenile 1 is UMOD (Uromodulin), and among its related pathways is Uricosurics Pathway, Pharmacodynamics. Affiliated tissues include kidney, and related mouse phenotype renal/urinary system.

Disease Ontology:11 A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.

UniProtKB/Swiss-Prot:68 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

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Diseases in the Hyperuricemic Nephropathy, Familial Juvenile 1 family:

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

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1hyperuricemic nephropathy, familial juvenile 211.9
2autosomal dominant tubulointerstitial kidney disease, ren-related11.4
3autosomal dominant tubulointerstitial kidney disease, umod-related11.4
4renal cysts and diabetes syndrome11.3
5familial juvenile hyperuricaemic nephropathy11.3
6ren-related kidney disease11.3
7kidney disease10.4
8gout10.3
9cystic kidney disease10.2
10deafness, autosomal recessive 2210.2HNF1B, MCKD2, UMOD
11dental caries10.1HNF1B, MUC1
12retinitis pigmentosa 2210.1HNF1B, MCKD2, UMOD
13hyperuricemia10.1
14ovarian wilms' cancer10.1HNF1B, MUC1
15nephronophthisis 49.9NPHP1, NPHP4
16crest syndrome9.8NPHP1, NPHP4
17spastic paraplegia, optic atrophy, and neuropathy9.8HPRT1, SLC22A12, SLC2A9
18van maldergem syndrome9.8HPRT1, SLC22A12, SLC2A9
19subvalvular aortic stenosis9.8HPRT1, SLC22A12, SLC2A9
20acrodermatitis chronica atrophicans9.7NPHP1, NPHP4
21neutropenia9.6SLC22A12, SLC2A9
22senior-loken syndrome-19.6NPHP1, NPHP4
23sex differentiation disease9.5HPRT1, SLC22A12, SLC2A9, UMOD
24nontoxic goiter9.5HPRT1, SLC22A12, SLC2A9, UMOD
25telangiectasis9.4MUC1, NPHP1, NPHP4
26carbohydrate metabolic disorder9.0HNF1B, MUC1, NPHP1, NPHP4, UMOD
27glomerulocystic kidney disease with hyperuricemia and isosthenuria6.6CRYM, HNF1B, HPRT1, MCKD2, MUC1, NPHP1

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



Diseases related to hyperuricemic nephropathy, familial juvenile 1

Symptoms for Hyperuricemic Nephropathy, Familial Juvenile 1

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Symptoms by clinical synopsis from OMIM:

162000

Clinical features from OMIM:

162000

HPO human phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile 1:

id Description Frequency HPO Source Accession
1 renal insufficiency HP:0000083
2 tubular atrophy HP:0000092
3 nephropathy HP:0000112
4 gout HP:0001997

Drugs & Therapeutics for Hyperuricemic Nephropathy, Familial Juvenile 1

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Interventional clinical trials:

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

Genetic Tests for Hyperuricemic Nephropathy, Familial Juvenile 1

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Genetic tests related to Hyperuricemic Nephropathy, Familial Juvenile 1:

id Genetic test Affiliating Genes
1 Familial Juvenile Hyperuricemic Nephropathy Type 123 UMOD

Anatomical Context for Hyperuricemic Nephropathy, Familial Juvenile 1

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

34
Kidney

Animal Models for Hyperuricemic Nephropathy, Familial Juvenile 1 or affiliated genes

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.4HNF1B, HPRT1, NPHP1, NPHP4, SLC22A12, SLC2A9

Publications for Hyperuricemic Nephropathy, Familial Juvenile 1

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Variations for Hyperuricemic Nephropathy, Familial Juvenile 1

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

68 (show all 33)
id Symbol AA change Variation ID SNP ID
1UMODp.Cys148TyrVAR_017667rs28934582
2UMODp.Cys217ArgVAR_017668rs28934583
3UMODp.Cys77TyrVAR_025950rs121917768
4UMODp.Cys126ArgVAR_025952rs121917769
5UMODp.Asn128SerVAR_025953rs121917770
6UMODp.Cys148TrpVAR_025954
7UMODp.Cys150SerVAR_025955
8UMODp.Cys223TyrVAR_025956
9UMODp.Cys248TrpVAR_025958
10UMODp.Cys255TyrVAR_025959rs121917771
11UMODp.Cys300GlyVAR_025960rs121917772
12UMODp.Cys317TyrVAR_025962
13UMODp.Val109GluVAR_071398rs780462125
14UMODp.Trp230ArgVAR_071399
15UMODp.Pro236GlnVAR_071400
16UMODp.Ala461GluVAR_071401
17UMODp.Cys52TrpVAR_073052
18UMODp.Asp59AlaVAR_073053
19UMODp.Cys112ArgVAR_073054
20UMODp.Cys135SerVAR_073055
21UMODp.Cys170TyrVAR_073057
22UMODp.Arg185SerVAR_073058
23UMODp.Cys195PheVAR_073059
24UMODp.Trp202SerVAR_073060
25UMODp.Arg204GlyVAR_073061
26UMODp.Cys217GlyVAR_073062rs28934583
27UMODp.Arg222ProVAR_073063
28UMODp.Thr225MetVAR_073064
29UMODp.Pro236LeuVAR_073065
30UMODp.Pro236ArgVAR_073066
31UMODp.Cys282ArgVAR_073067
32UMODp.Gln316ProVAR_073068
33UMODp.Cys347GlyVAR_073069

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

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1UMODUMOD, 27-BP DEL, NT1966deletionPathogenic
2UMODNM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)single nucleotide variantPathogenicrs28934582GRCh37Chr 16, 20360180: 20360180
3UMODNM_003361.3(UMOD): c.649T> C (p.Cys217Arg)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
4UMODNM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs121917768GRCh37Chr 16, 20360393: 20360393
5UMODNM_003361.3(UMOD): c.376T> C (p.Cys126Arg)single nucleotide variantPathogenicrs121917769GRCh37Chr 16, 20360247: 20360247
6UMODNM_003361.3(UMOD): c.383A> G (p.Asn128Ser)single nucleotide variantPathogenicrs121917770GRCh37Chr 16, 20360240: 20360240
7UMODNM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)single nucleotide variantPathogenicrs121917771GRCh37Chr 16, 20359859: 20359859
8UMODNM_003361.3(UMOD): c.898T> G (p.Cys300Gly)single nucleotide variantPathogenicrs121917772GRCh37Chr 16, 20359620: 20359620
9UMODNM_003361.3(UMOD): c.817G> T (p.Val273Phe)single nucleotide variantPathogenicrs121917774GRCh37Chr 16, 20359806: 20359806
10UMODNM_003361.3(UMOD): c.649T> G (p.Cys217Gly)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
11UMODNM_003361.3(UMOD): c.743G> C (p.Cys248Ser)single nucleotide variantPathogenicrs398122388GRCh37Chr 16, 20359880: 20359880

Expression for genes affiliated with Hyperuricemic Nephropathy, Familial Juvenile 1

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

Pathways for genes affiliated with Hyperuricemic Nephropathy, Familial Juvenile 1

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

idSuper pathwaysScoreTop Affiliating Genes
19.5SLC22A12, SLC2A9

GO Terms for genes affiliated with Hyperuricemic Nephropathy, Familial Juvenile 1

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:00323919.7NPHP1, NPHP4
2apical plasma membraneGO:00163248.8MUC1, SLC22A12, SLC2A9, UMOD

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

idNameGO IDScoreTop Affiliating Genes
1organic acid transmembrane transportGO:190382510.0SLC22A12, SLC2A9
2positive regulation of bicellular tight junction assemblyGO:19033489.8NPHP1, NPHP4
3visual behaviorGO:00076329.8NPHP1, NPHP4
4excretionGO:00075889.8NPHP1, UMOD
5urate metabolic processGO:00464159.8SLC22A12, SLC2A9
6retina development in camera-type eyeGO:00600419.3NPHP1, NPHP4

Molecular functions related to Hyperuricemic Nephropathy, Familial Juvenile 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1urate transmembrane transporter activityGO:00151439.5SLC22A12, SLC2A9

Sources for Hyperuricemic Nephropathy, Familial Juvenile 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet