MCID: FML022
MIFTS: 34

Familial Juvenile Hyperuricemic Nephropathy malady

Genetic diseases (common), Nephrological diseases categories
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Summaries for Familial Juvenile Hyperuricemic Nephropathy

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8Disease Ontology, 47OMIM, 33MalaCards
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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 potassium and uric acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are reproductive system and renal/urinary system.

Description from OMIM:47 162000,613092

Aliases & Classifications for Familial Juvenile Hyperuricemic Nephropathy

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8Disease Ontology, 10DISEASES, 45Novoseek, 47OMIM
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Classifications:

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


Aliases & Descriptions:

familial juvenile hyperuricemic nephropathy 8 10
hyperuricemic nephropathy, familial juvenile 45


External Ids:

Disease Ontology8 DOID:0060062

Related Diseases for Familial Juvenile Hyperuricemic Nephropathy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Familial Juvenile Hyperuricemic Nephropathy:



Diseases related to familial juvenile hyperuricemic nephropathy

Symptoms for Familial Juvenile Hyperuricemic Nephropathy

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47OMIM
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Clinical features from OMIM:

162000,613092

Drugs & Therapeutics for Familial Juvenile Hyperuricemic Nephropathy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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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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33MalaCards
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MalaCards organs/tissues related to Familial Juvenile Hyperuricemic Nephropathy:

33
Kidney

Animal Models for Familial Juvenile Hyperuricemic Nephropathy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Juvenile Hyperuricemic Nephropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.6NPHP4, NPHP1, REN
2MP:00053677.2NPHP4, NPHP1, HNF1B, UMOD, REN

Publications for Familial Juvenile Hyperuricemic Nephropathy

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52PubMed
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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

Variations for Familial Juvenile Hyperuricemic Nephropathy

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Expression for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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Pathways for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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50PathCards, 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
19.4HNF1B, UMOD

Compounds for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Familial Juvenile Hyperuricemic Nephropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1potassium45 24 1111.5UMOD, REN
2uric acid45 2410.4HNF1B, UMOD
3nacl459.2UMOD, REN
4glucose458.8HNF1B, UMOD, 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
1cell-cell junctionGO:0059119.1NPHP4, NPHP1
2tight junctionGO:0059238.8NPHP4, NPHP1

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

idNameGO IDScoreTop Affiliating Genes
1excretionGO:0075889.3NPHP1, UMOD
2visual behaviorGO:0076329.2NPHP4, NPHP1
3kidney developmentGO:0018229.2REN, HNF1B
4retina development in camera-type eyeGO:0600419.1NPHP4, NPHP1
5actin cytoskeleton organizationGO:0300369.1NPHP4, NPHP1
6cell-cell adhesionGO:0163378.8NPHP4, NPHP1

Molecular functions related to Familial Juvenile Hyperuricemic Nephropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1NPHP4, NPHP1

Products for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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Sources for Familial Juvenile Hyperuricemic Nephropathy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet