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

MalaCards based summary: 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.

Descriptions from OMIM:46 614227,613092,162000

Aliases & Classifications for Familial Juvenile Hyperuricemic Nephropathy

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 46OMIM
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Familial Juvenile Hyperuricemic Nephropathy, Aliases & Descriptions:

Name: Familial Juvenile Hyperuricemic Nephropathy 8 10
 
Hyperuricemic Nephropathy, Familial Juvenile 44 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:0060062

Related Diseases for Familial Juvenile Hyperuricemic Nephropathy

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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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Clinical features from OMIM:

614227,613092,162000

Drugs & Therapeutics for Familial Juvenile Hyperuricemic Nephropathy

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Drug clinical trials:

Search ClinicalTrials for Familial Juvenile Hyperuricemic Nephropathy

Search NIH Clinical Center for Familial Juvenile Hyperuricemic Nephropathy

Genetic Tests for Familial Juvenile Hyperuricemic Nephropathy

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Anatomical Context for Familial Juvenile Hyperuricemic Nephropathy

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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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MGI Mouse Phenotypes related to Familial Juvenile Hyperuricemic Nephropathy:

36
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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Articles related to Familial Juvenile Hyperuricemic Nephropathy:

(show all 22)
idTitleAuthorsYear
1
Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy. (24577984)
2013
2
Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. (23988501)
2013
3
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
4
A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene. (23197950)
2012
5
Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. (22776760)
2012
6
A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. (21060763)
2010
7
Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. (19203555)
2009
8
Familial juvenile hyperuricemic nephropathy (FJHN)]. (18409515)
2008
9
Disappearance of tophi in familial juvenile hyperuricemic nephropathy after kidney transplantation. (17868056)
2007
10
Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. (17151335)
2007
11
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
12
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. (15673476)
2005
13
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. (15086896)
2004
14
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. (12675839)
2003
15
Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. (12519891)
2003
16
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (12629136)
2003
17
Stopping progression in familial juvenile hyperuricemic nephropathy with benzbromarone? (14531831)
2003
18
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. (14569098)
2003
19
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? (11675411)
2001
20
Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. (10780922)
2000
21
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
22
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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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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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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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Familial Juvenile Hyperuricemic Nephropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1potassium44 24 1111.5UMOD, REN
2uric acid44 2410.4HNF1B, UMOD
3nacl449.2UMOD, REN
4glucose448.8HNF1B, UMOD, REN

GO Terms for genes affiliated with Familial Juvenile Hyperuricemic Nephropathy

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet