FJHN
MCID: FML076
MIFTS: 19

Familial Juvenile Hyperuricaemic Nephropathy (FJHN) malady

Nephrological diseases, Ear diseases, Genetic diseases categories

Summaries for Familial Juvenile Hyperuricaemic Nephropathy

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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 cystic kidney and kidney disease. An important gene associated with Familial Juvenile Hyperuricaemic Nephropathy is UMOD (uromodulin). Affiliated tissues include kidney.

Aliases & Classifications for Familial Juvenile Hyperuricaemic Nephropathy

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42NIH Rare Diseases, 60UMLS
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Classifications:

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


Aliases & Descriptions:

familial juvenile hyperuricaemic nephropathy 42
progressive hereditary glomerulonephritis without deafness 60
gouty nephropathy, familial juvenile 42
nephropathy, familial, with gout 42
umod-related kidney disease 42
familial juvenile gout 60
juvenile gout 42
fjhn 42


Related Diseases for Familial Juvenile Hyperuricaemic Nephropathy

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cystic kidney10.4
2kidney disease10.4
3muckle-wells syndrome10.3
4amyloidosis, hereditary renal10.3
5lesch-nyhan syndrome10.3
6umod-associated kidney disease10.1
7ren-related kidney disease10.1
8gout10.0
9familial juvenile hyperuricemic nephropathy10.0
10maturity-onset diabetes of the young, type 510.0
11uromodulin-associated kidney disease10.0
12primary 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

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Drugs & Therapeutics for Familial Juvenile Hyperuricaemic Nephropathy

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Familial Juvenile Hyperuricaemic Nephropathy

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

32
Kidney

Animal Models for Familial Juvenile Hyperuricaemic Nephropathy or affiliated genes

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Publications for Familial Juvenile Hyperuricaemic Nephropathy

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Genetic Variations for Familial Juvenile Hyperuricaemic Nephropathy

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Expression for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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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

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Compounds for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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GO Terms for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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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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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Familial Juvenile Hyperuricaemic 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