MCID: FML022
MIFTS: 34

Familial Juvenile Hyperuricemic Nephropathy malady

Nephrological diseases, Genetic diseases categories

Summaries for Familial Juvenile Hyperuricemic Nephropathy

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8Disease Ontology, 46OMIM, 32MalaCards
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Disease Ontology:8 A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.

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

Description from OMIM:46 162000,613092

Aliases & Classifications for Familial Juvenile Hyperuricemic Nephropathy

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8Disease Ontology, 10DISEASES, 44Novoseek, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

familial juvenile hyperuricemic nephropathy 8 10
hyperuricemic nephropathy, familial juvenile 44


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Disease Ontology8 DOID:0060062

Related Diseases for Familial Juvenile Hyperuricemic Nephropathy

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17GeneCards, 18GeneDecks
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Diseases in the Familial Juvenile Hyperuricemic Nephropathy Type 2 family:

familial juvenile hyperuricemic nephropathy Hyperuricemic Nephropathy, Familial Juvenile, 3

Diseases related to Familial Juvenile Hyperuricemic Nephropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1cystic kidney30.7UMOD, HNF1B
2gout30.7SLC22A12, UMOD, HNF1B
3familial juvenile hyperuricemic nephropathy type 210.8
4umod-associated kidney disease10.7
5kidney disease10.6
6ren-related kidney disease10.6
7autosomal dominant disease10.5
8hyperuricemic nephropathy, familial juvenile, 310.5
9gouty nephropathy, familial10.3
10maturity-onset diabetes of the young, type 510.3
11uromodulin-associated kidney disease10.3
12vesicoureteral reflux10.0UMOD
13nephronophthisis 410.0NPHP4
14renal dysplasia10.0HNF1B
15brachydactyly10.0REN
16bartter disease10.0UMOD, REN
17apraxia10.0NPHP1
18polycystic kidney disease10.0UMOD, HNF1B
19situs inversus10.0NPHP1
20end stage renal failure10.0NPHP4
21developmental disabilities10.0OFD1, HNF1B
22orofaciodigital syndrome10.0KIF3A, OFD1
23hyperuricemia10.0SLC22A12, UMOD, HNF1B
24acute kidney failure10.0SLC22A12, REN, UMOD
25diabetic nephropathy10.0HNF1B, UMOD, REN
26joubert syndrome10.0NPHP1, OFD1
27rhyns syndrome10.0NPHP1, NPHP4
28nephrolithiasis10.0SLC22A12, UMOD
29nephronophthisis 110.0NPHP4, NPHP1
30nephronophthisis10.0NPHP1, NPHP4, OFD1
31primary hyperoxaluria10.0REN, UMOD, NPHP1, HNF1B
32chronic kidney failure10.0REN, UMOD, NPHP1, HNF1B

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



Diseases related to familial juvenile hyperuricemic nephropathy

Clinical Features for Familial Juvenile Hyperuricemic Nephropathy

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46OMIM
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Clinical features from OMIM:

162000,613092

Drugs & Therapeutics for Familial Juvenile Hyperuricemic Nephropathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Familial Juvenile Hyperuricemic Nephropathy

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Genetic Tests for Familial Juvenile Hyperuricemic Nephropathy

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Anatomical Context for Familial Juvenile Hyperuricemic Nephropathy

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32MalaCards
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MalaCards organs/tissues related to Familial Juvenile Hyperuricemic Nephropathy:

32
Kidney

Animal Models for Familial Juvenile Hyperuricemic Nephropathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Juvenile Hyperuricemic Nephropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9SLC22A12, KIF3A, REN, CRYM, UMOD, HNF1B
2MP:00053787.4HNF1B, UMOD, CRYM, OFD1, REN, KIF3A
3MP:00053857.1NPHP4, CRYM, OFD1, REN, KIF3A, SLC22A12
4MP:00053676.6SLC22A12, HNF1B, NPHP1, NPHP4, UMOD, OFD1

Publications for Familial Juvenile Hyperuricemic Nephropathy

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50PubMed
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Articles related to Familial Juvenile Hyperuricemic Nephropathy:

(show all 21)
idTitleAuthorsYear
1
Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. (23988501)
2013
2
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
3
A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene. (23197950)
2012
4
Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. (22776760)
2012
5
A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. (21060763)
2010
6
Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. (19203555)
2009
7
Familial juvenile hyperuricemic nephropathy (FJHN)]. (18409515)
2008
8
Disappearance of tophi in familial juvenile hyperuricemic nephropathy after kidney transplantation. (17868056)
2007
9
Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. (17151335)
2007
10
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
11
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. (15673476)
2005
12
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. (15086896)
2004
13
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. (12675839)
2003
14
Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. (12519891)
2003
15
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (12629136)
2003
16
Stopping progression in familial juvenile hyperuricemic nephropathy with benzbromarone? (14531831)
2003
17
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. (14569098)
2003
18
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? (11675411)
2001
19
Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. (10780922)
2000
20
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
21
Familial Juvenile Hyperuricemic Nephropathy Type 2 (21473025)
1993

Genetic Variations for Familial Juvenile Hyperuricemic Nephropathy

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Expression for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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

Pathways for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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12EMD Millipore
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Pathways related to Familial Juvenile Hyperuricemic Nephropathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8UMOD, HNF1B

Compounds for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Familial Juvenile Hyperuricemic Nephropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1losartan44 49 28 1112.4SLC22A12, REN
2creatinine449.4SLC22A12, REN, UMOD
3uric acid44 2410.3SLC22A12, UMOD, HNF1B
4potassium44 11 2411.2UMOD, CRYM, REN

GO Terms for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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16Gene Ontology
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Cellular components related to Familial Juvenile Hyperuricemic Nephropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1primary ciliumGO:0723729.5KIF3A, UMOD
2photoreceptor connecting ciliumGO:0323919.3KIF3A, NPHP1
3microtubule basal bodyGO:0059328.9OFD1, NPHP4
4centrosomeGO:0058138.7KIF3A, OFD1, NPHP4

Biological processes related to Familial Juvenile Hyperuricemic Nephropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1excretionGO:0075889.5NPHP1, UMOD
2kidney developmentGO:0018229.3KIF3A, REN, HNF1B
3anterior/posterior pattern specificationGO:0099529.3KIF3A, HNF1B
4visual behaviorGO:0076329.1NPHP4, NPHP1
5cell-cell adhesionGO:0163379.0NPHP4, NPHP1
6retina development in camera-type eyeGO:0600418.9NPHP4, NPHP1

Products for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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Sources for Familial Juvenile Hyperuricemic Nephropathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet