FJHN
MCID: FML076
MIFTS: 22

Familial Juvenile Hyperuricaemic Nephropathy (FJHN) malady

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Familial Juvenile Hyperuricaemic Nephropathy

Aliases & Descriptions for Familial Juvenile Hyperuricaemic Nephropathy:

Name: Familial Juvenile Hyperuricaemic Nephropathy 50
Familial Juvenile Hyperuricemic Nephropathy 50 25
Medullary Cystic Kidney Disease Type 2 25 69
Uromodulin-Associated Kidney Disease 50 25
Umod-Related Kidney Disease 50 25
Fjhn 50 25
Familial Nephropathy Associated with Hyperuricemia 50
Medullary Cystic Kidney Disease Type Ii 69
Gouty Nephropathy, Familial Juvenile 50
Familial Juvenile Gouty Nephropathy 50
Nephropathy, Familial, with Gout 50
Familial Nephropathy with Gout 50
Familial Gout-Kidney Disease 25
Gouty Nephropathy, Familial 50
Juvenile Gouty Nephropathy 50
Uromodulin Storage Disease 25
Familial Gouty Nephropathy 25
Familial Juvenile Gout 69
Juvenile Gout 50
Mckd2 25
Umak 25

Classifications:



Summaries for Familial Juvenile Hyperuricaemic Nephropathy

NIH Rare Diseases : 50 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 based summary : Familial Juvenile Hyperuricaemic Nephropathy, also known as familial juvenile hyperuricemic nephropathy, is related to familial juvenile hyperuricemic nephropathy 4 and lesch-nyhan syndrome. An important gene associated with Familial Juvenile Hyperuricaemic Nephropathy is UMOD (Uromodulin). Affiliated tissues include kidney and liver.

Genetics Home Reference : 25 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.

Related Diseases for Familial Juvenile Hyperuricaemic Nephropathy

Graphical network of the top 20 diseases related to Familial Juvenile Hyperuricaemic Nephropathy:



Diseases related to Familial Juvenile Hyperuricaemic Nephropathy

Symptoms & Phenotypes for Familial Juvenile Hyperuricaemic Nephropathy

Drugs & Therapeutics for Familial Juvenile Hyperuricaemic Nephropathy

Search Clinical Trials , NIH Clinical Center for Familial Juvenile Hyperuricaemic Nephropathy

Genetic Tests for Familial Juvenile Hyperuricaemic Nephropathy

Anatomical Context for Familial Juvenile Hyperuricaemic Nephropathy

MalaCards organs/tissues related to Familial Juvenile Hyperuricaemic Nephropathy:

39
Kidney, Liver

Publications for Familial Juvenile Hyperuricaemic Nephropathy

Articles related to Familial Juvenile Hyperuricaemic Nephropathy:

(show all 18)
id Title Authors Year
1
Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy. ( 24886545 )
2014
2
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. ( 19465746 )
2009
3
Outcome of kidney transplantation in familial juvenile hyperuricaemic nephropathy. ( 17595184 )
2007
4
Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain. ( 17065066 )
2006
5
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. ( 15575003 )
2004
6
Familial juvenile hyperuricaemic nephropathy. ( 15208434 )
2004
7
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
8
Familial juvenile hyperuricaemic nephropathy. ( 14747627 )
2004
9
Familial juvenile hyperuricaemic nephropathy. ( 12589017 )
2003
10
Familial juvenile hyperuricaemic nephropathy. ( 14566042 )
2003
11
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
12
Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations. ( 12105260 )
2002
13
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. ( 12471200 )
2002
14
Efficacy of allopurinol in ameliorating the progressive renal disease in familial juvenile hyperuricaemic nephropathy (FJHN). A six-year update. ( 9598022 )
1998
15
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. ( 9686952 )
1998
16
Familial renal disease or familial juvenile hyperuricaemic nephropathy? ( 9266353 )
1997
17
Familial juvenile hyperuricaemic nephropathy in adolescents. ( 7661009 )
1994
18
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

ClinVar genetic disease variations for Familial Juvenile Hyperuricaemic Nephropathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UMOD NM_003361.3(UMOD): c.307G> T (p.Gly103Cys) single nucleotide variant Pathogenic rs28934584 GRCh37 Chromosome 16, 20360316: 20360316
2 UMOD NM_003361.3(UMOD): c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) indel Pathogenic rs878855325 GRCh38 Chromosome 16, 20349012: 20349023
3 UMOD NM_003361.3(UMOD): c.744C> G (p.Cys248Trp) single nucleotide variant Pathogenic rs886043751 GRCh37 Chromosome 16, 20359879: 20359879

Expression for Familial Juvenile Hyperuricaemic Nephropathy

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

Pathways for Familial Juvenile Hyperuricaemic Nephropathy

GO Terms for Familial Juvenile Hyperuricaemic Nephropathy

Cellular components related to Familial Juvenile Hyperuricaemic Nephropathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 anchored component of membrane GO:0031225 8.62 GP2 UMOD

Molecular functions related to Familial Juvenile Hyperuricaemic Nephropathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.62 OIT3 UMOD

Sources for Familial Juvenile Hyperuricaemic Nephropathy

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70 UMLS via Orphanet
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