MCID: FML076
MIFTS: 21

Familial Juvenile Hyperuricaemic Nephropathy malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Familial Juvenile Hyperuricaemic Nephropathy

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Aliases & Descriptions for Familial Juvenile Hyperuricaemic Nephropathy:

Name: Familial Juvenile Hyperuricaemic Nephropathy 48
Familial Juvenile Hyperuricemic Nephropathy 48 25
Medullary Cystic Kidney Disease Type 2 25 68
Uromodulin-Associated Kidney Disease 48 25
Umod-Related Kidney Disease 48 25
Fjhn 48 25
Familial Nephropathy Associated with Hyperuricemia 48
Medullary Cystic Kidney Disease Type Ii 68
Gouty Nephropathy, Familial Juvenile 48
Familial Juvenile Gouty Nephropathy 48
Nephropathy, Familial, with Gout 48
 
Familial Nephropathy with Gout 48
Familial Gout-Kidney Disease 25
Gouty Nephropathy, Familial 48
Juvenile Gouty Nephropathy 48
Uromodulin Storage Disease 25
Familial Gouty Nephropathy 25
Familial Juvenile Gout 68
Juvenile Gout 48
Mckd2 25
Umak 25

Classifications:



Summaries for Familial Juvenile Hyperuricaemic Nephropathy

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NIH Rare Diseases:48 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 hyperuricemic nephropathy, familial juvenile 1. 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

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Graphical network of diseases related to Familial Juvenile Hyperuricaemic Nephropathy:



Diseases related to familial juvenile hyperuricaemic nephropathy

Symptoms & Phenotypes for Familial Juvenile Hyperuricaemic Nephropathy

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Drugs & Therapeutics for Familial Juvenile Hyperuricaemic Nephropathy

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Interventional clinical trials:

Search ClinicalTrials, 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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MalaCards organs/tissues related to Familial Juvenile Hyperuricaemic Nephropathy:

36
Kidney, Liver

Publications for Familial Juvenile Hyperuricaemic Nephropathy

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Articles related to Familial Juvenile Hyperuricaemic Nephropathy:

(show all 18)
idTitleAuthorsYear
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
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
6
Familial juvenile hyperuricaemic nephropathy. (14747627)
2004
7
Familial juvenile hyperuricaemic nephropathy. (15208434)
2004
8
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. (15575003)
2004
9
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
10
Familial juvenile hyperuricaemic nephropathy. (12589017)
2003
11
Familial juvenile hyperuricaemic nephropathy. (14566042)
2003
12
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. (12471200)
2002
13
Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations. (12105260)
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

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Clinvar genetic disease variations for Familial Juvenile Hyperuricaemic Nephropathy:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1UMODUMOD, 27-BP DEL, NT1966deletionPathogenicChr na, -1: -1
2UMODNM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)SNVPathogenicrs28934582GRCh37Chr 16, 20360180: 20360180
3UMODNM_003361.3(UMOD): c.649T> C (p.Cys217Arg)SNVPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
4UMODNM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)SNVPathogenicrs121917768GRCh37Chr 16, 20360393: 20360393
5UMODNM_003361.3(UMOD): c.376T> C (p.Cys126Arg)SNVPathogenicrs121917769GRCh37Chr 16, 20360247: 20360247
6UMODNM_003361.3(UMOD): c.383A> G (p.Asn128Ser)SNVPathogenicrs121917770GRCh37Chr 16, 20360240: 20360240
7UMODNM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)SNVPathogenicrs121917771GRCh37Chr 16, 20359859: 20359859
8UMODNM_003361.3(UMOD): c.898T> G (p.Cys300Gly)SNVPathogenicrs121917772GRCh37Chr 16, 20359620: 20359620
9UMODNM_003361.3(UMOD): c.817G> T (p.Val273Phe)SNVPathogenicrs121917774GRCh37Chr 16, 20359806: 20359806
10UMODNM_003361.3(UMOD): c.744C> G (p.Cys248Trp)SNVPathogenicrs886043751GRCh37Chr 16, 20359879: 20359879
11UMODNM_003361.3(UMOD): c.649T> G (p.Cys217Gly)SNVPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
12UMODNM_003361.3(UMOD): c.743G> C (p.Cys248Ser)SNVPathogenicrs398122388GRCh37Chr 16, 20359880: 20359880

Expression for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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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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GO Terms for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:00312259.0GP2, UMOD

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.3OIT3, UMOD

Sources for Familial Juvenile Hyperuricaemic Nephropathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet