FJHN
MCID: FML076
MIFTS: 32

Familial Juvenile Hyperuricaemic Nephropathy (FJHN) malady

Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases categories
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Summaries for Familial Juvenile Hyperuricaemic Nephropathy

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 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 familial juvenile hyperuricemic nephropathy, is related to umod-associated kidney disease and glomerulocystic kidney disease with hyperuricemia and isosthenuria. An important gene associated with Familial Juvenile Hyperuricaemic Nephropathy is UMOD (uromodulin). Affiliated tissues include kidney and liver.

Genetics Home Reference:21 Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family.

Description from OMIM:47 603860

Aliases & Classifications for Familial Juvenile Hyperuricaemic Nephropathy

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43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 62UMLS
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Classifications:

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


Aliases & Descriptions:

familial juvenile hyperuricaemic nephropathy 43
familial juvenile hyperuricemic nephropathy 43 21
uromodulin-associated kidney disease 43 21
umod-related kidney disease 43 21
fjhn 43 21
progressive hereditary glomerulonephritis without deafness 62
familial nephropathy associated with hyperuricemia 43
medullary cystic kidney disease type 2 21
gouty nephropathy, familial juvenile 43
familial juvenile gouty nephropathy 43
medullary cystic kidney disease 2 47
nephropathy, familial, with gout 43
familial nephropathy with gout 43
familial gout-kidney disease 21
gouty nephropathy, familial 43
juvenile gouty nephropathy 43
familial gouty nephropathy 21
uromodulin storage disease 21
familial juvenile gout 62
juvenile gout 43
mckd2 21
umak 21


Related Diseases for Familial Juvenile Hyperuricaemic Nephropathy

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Familial Juvenile Hyperuricaemic Nephropathy:



Diseases related to familial juvenile hyperuricaemic nephropathy

Symptoms for Familial Juvenile Hyperuricaemic Nephropathy

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47OMIM
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Clinical features from OMIM:

603860

Drugs & Therapeutics for Familial Juvenile Hyperuricaemic Nephropathy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Familial Juvenile Hyperuricaemic Nephropathy

Search NIH Clinical Center for Familial Juvenile Hyperuricaemic Nephropathy

Genetic Tests for Familial Juvenile Hyperuricaemic Nephropathy

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Anatomical Context for Familial Juvenile Hyperuricaemic Nephropathy

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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

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Publications for Familial Juvenile Hyperuricaemic Nephropathy

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52PubMed
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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

Variations for Familial Juvenile Hyperuricaemic Nephropathy

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Familial Juvenile Hyperuricaemic Nephropathy:

64
id Symbol AA change Variation ID SNP ID
1UMODp.Gly103CysVAR_017666rs28934584
2UMODp.Thr225LysVAR_025957
3UMODp.Cys248TrpVAR_025958

Clinvar genetic disease variations for Familial Juvenile Hyperuricaemic Nephropathy:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1UMODNM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)single nucleotide variantPathogenicrs28934582GRCh37Chr 16, 20360180: 20360180
2UMODNM_003361.3(UMOD): c.649T> C (p.Cys217Arg)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
3UMODNM_003361.3(UMOD): c.307G> T (p.Gly103Cys)single nucleotide variantPathogenicrs28934584GRCh37Chr 16, 20360316: 20360316
4UMODNM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs121917768GRCh37Chr 16, 20360393: 20360393
5UMODNM_003361.3(UMOD): c.376T> C (p.Cys126Arg)single nucleotide variantPathogenicrs121917769GRCh37Chr 16, 20360247: 20360247
6UMODNM_003361.3(UMOD): c.383A> G (p.Asn128Ser)single nucleotide variantPathogenicrs121917770GRCh37Chr 16, 20360240: 20360240
7UMODNM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)single nucleotide variantPathogenicrs121917771GRCh37Chr 16, 20359859: 20359859
8UMODNM_003361.3(UMOD): c.898T> G (p.Cys300Gly)single nucleotide variantPathogenicrs121917772GRCh37Chr 16, 20359620: 20359620
9UMODNM_003361.3(UMOD): c.817G> T (p.Val273Phe)single nucleotide variantPathogenicrs121917774GRCh37Chr 16, 20359806: 20359806
10UMODNM_003361.3(UMOD): c.649T> G (p.Cys217Gly)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
11UMODNM_003361.3(UMOD): c.743G> C (p.Cys248Ser)single nucleotide variantPathogenicrs398122388GRCh37Chr 16, 20359880: 20359880

Expression for genes affiliated with Familial Juvenile Hyperuricaemic 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 Hyperuricaemic Nephropathy

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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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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:0163249.1UMOD, GP2
2anchored component of membraneGO:0312258.8UMOD, GP2

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.4UMOD, OIT3

Products for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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Sources for Familial Juvenile Hyperuricaemic 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