FJHN
MCID: FML076
MIFTS: 22

Familial Juvenile Hyperuricaemic Nephropathy (FJHN) malady

Nephrological, Ear, Genetic categories

Summaries for Familial Juvenile Hyperuricaemic Nephropathy

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Familial juvenile hyperuricaemic nephropathy (fjhn) is an inherited condition that affects the kidneys. the signs and symptoms vary, even among members of the same family. many individuals with this condition develop high blood levels of a waste product called uric acid. normally, the kidneys remove uric acid from the blood and transfer it to urine. in fjhn, the kidneys are unable to remove uric acid from the blood effectively. beginning in the early teens, fjhn causes gout and slowly progressive kidney disease, resulting in kidney failure. people with fjhn typically require either dialysis to remove wastes from the blood or a kidney transplant. fjhn is caused by mutations in the umod gene and is inherited in an autosomal dominant fashion. last updated: 11/3/2011

MalaCards: Familial Juvenile Hyperuricaemic Nephropathy, also known as progressive hereditary glomerulonephritis without deafness, is related to muckle-wells syndrome and amyloidosis, hereditary renal. An important gene associated with Familial Juvenile Hyperuricaemic Nephropathy is UMOD (uromodulin). Affiliated tissues include kidney and liver.

Aliases & Classifications for Familial Juvenile Hyperuricaemic Nephropathy

Sources:
43NIH Rare Diseases, 61UMLS
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Classifications:

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


Aliases & Descriptions:

familial juvenile hyperuricaemic nephropathy 43
progressive hereditary glomerulonephritis without deafness 61
gouty nephropathy, familial juvenile 43
nephropathy, familial, with gout 43
umod-related kidney disease 43
familial juvenile gout 61
juvenile gout 43
fjhn 43


Related Diseases for Familial Juvenile Hyperuricaemic Nephropathy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Familial Juvenile Hyperuricaemic Nephropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muckle-wells syndrome10.3
2amyloidosis, hereditary renal10.3
3lesch-nyhan syndrome10.3
4umod-associated kidney disease10.2
5ren-related kidney disease10.2
6gout10.1
7familial juvenile hyperuricemic nephropathy10.0
8maturity-onset diabetes of the young, type 510.0
9uromodulin-associated kidney disease10.0
10primary hyperoxaluria10.0UMOD

Graphical network of diseases related to Familial Juvenile Hyperuricaemic Nephropathy:



Diseases related to familial juvenile hyperuricaemic nephropathy

Clinical Features for Familial Juvenile Hyperuricaemic Nephropathy

Drugs & Therapeutics for Familial Juvenile Hyperuricaemic Nephropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Familial Juvenile Hyperuricaemic Nephropathy

Anatomical Context for Familial Juvenile Hyperuricaemic Nephropathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Juvenile Hyperuricaemic Nephropathy:

33
Kidney, Liver

Animal Models for Familial Juvenile Hyperuricaemic Nephropathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Familial Juvenile Hyperuricaemic Nephropathy

Sources:
51PubMed
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Articles related to Familial Juvenile Hyperuricaemic Nephropathy:

(show all 17)
idTitleAuthorsYear
1
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. (19465746)
2009
2
Outcome of kidney transplantation in familial juvenile hyperuricaemic nephropathy. (17595184)
2007
3
Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain. (17065066)
2006
4
Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy. (15589826)
2004
5
Familial juvenile hyperuricaemic nephropathy. (14747627)
2004
6
Familial juvenile hyperuricaemic nephropathy. (15208434)
2004
7
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. (15575003)
2004
8
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. (12634862)
2003
9
Familial juvenile hyperuricaemic nephropathy. (12589017)
2003
10
Familial juvenile hyperuricaemic nephropathy. (14566042)
2003
11
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. (12471200)
2002
12
Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations. (12105260)
2002
13
Efficacy of allopurinol in ameliorating the progressive renal disease in familial juvenile hyperuricaemic nephropathy (FJHN). A six-year update. (9598022)
1998
14
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. (9686952)
1998
15
Familial renal disease or familial juvenile hyperuricaemic nephropathy? (9266353)
1997
16
Familial juvenile hyperuricaemic nephropathy in adolescents. (7661009)
1994
17
Renal urate hypoexcretion in Polynesian women is not as severe as in United Kingdom (UK) women with familial juvenile hyperuricaemic nephropathy (FJHN). (7660926)
1994

Genetic Variations for Familial Juvenile Hyperuricaemic Nephropathy

Expression for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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

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

Pathways for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

Compounds for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

GO Terms for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.0GP2, UMOD
2anchored to membraneGO:0312258.7GP2, UMOD

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.3OIT3, UMOD

Products for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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Sources for Familial Juvenile Hyperuricaemic Nephropathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet