MCID: FML076
MIFTS: 33

Familial Juvenile Hyperuricaemic Nephropathy malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases, Ear diseases categories

Summaries for Familial Juvenile Hyperuricaemic Nephropathy

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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 based summary: Familial Juvenile Hyperuricaemic Nephropathy, also known as familial juvenile hyperuricemic nephropathy type 1, is related to hyperuricemic nephropathy, familial juvenile 2 and hyperuricemic nephropathy, familial juvenile 1. An important gene associated with Familial Juvenile Hyperuricaemic Nephropathy is UMOD (uromodulin). Affiliated tissues include kidney and liver, and related mouse phenotype renal/urinary system.

Genetics Home Reference:23 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.

Aliases & Classifications for Familial Juvenile Hyperuricaemic Nephropathy

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Familial Juvenile Hyperuricaemic Nephropathy, Aliases & Descriptions:

Name: Familial Juvenile Hyperuricaemic Nephropathy 43
Familial Juvenile Hyperuricemic Nephropathy Type 1 43 22 49
Uromodulin-Associated Kidney Disease 43 23 62
Familial Juvenile Gouty Nephropathy 43 49 62
Umod-Related Kidney Disease 43 23 62
Umod-Associated Familial Juvenile Hyperuricemic Nephropathy 43 49
Familial Juvenile Hyperuricemic Nephropathy 43 23
Medullary Cystic Kidney Disease Type 2 23 62
Familial Nephropathy with Gout 43 49
Familial Gout-Kidney Disease 23 62
Familial Gouty Nephropathy 23 62
Uromodulin Storage Disease 23 62
Umod-Associated Fjhn 43 49
Fjhn Type 1 43 49
 
Mckd2 23 62
Fjhn 43 23
Progressive Hereditary Glomerulonephritis Without Deafness 62
Familial Nephropathy Associated with Hyperuricemia 43
Hyperuricemic Nephropathy, Familial Juvenile 62
Gouty Nephropathy, Familial Juvenile 43
Medullary Cystic Kidney Disease 2 62
Nephropathy, Familial, with Gout 43
Gouty Nephropathy, Familial 43
Juvenile Gouty Nephropathy 43
Familial Juvenile Gout 62
Juvenile Gout 43
Umak 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
familial juvenile hyperuricemic nephropathy type 1:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

Orphanet49 209886

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 for Familial Juvenile Hyperuricaemic Nephropathy

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Drugs & Therapeutics for Familial Juvenile Hyperuricaemic Nephropathy

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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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Genetic tests related to Familial Juvenile Hyperuricaemic Nephropathy:

id Genetic test Affiliating Genes
1 Familial Juvenile Hyperuricemic Nephropathy Type 122 UMOD

Anatomical Context for Familial Juvenile Hyperuricaemic Nephropathy

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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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MGI Mouse Phenotypes related to Familial Juvenile Hyperuricaemic Nephropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.3UMOD, OIT3

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:

7 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1UMODUMOD, 27-BP DEL, NT1966deletionPathogenic
2UMODNM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)single nucleotide variantPathogenicrs28934582GRCh37Chr 16, 20360180: 20360180
3UMODNM_003361.3(UMOD): c.649T> C (p.Cys217Arg)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
4UMODNM_003361.3(UMOD): c.307G> T (p.Gly103Cys)single nucleotide variantPathogenicrs28934584GRCh37Chr 16, 20360316: 20360316
5UMODNM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs121917768GRCh37Chr 16, 20360393: 20360393
6UMODNM_003361.3(UMOD): c.376T> C (p.Cys126Arg)single nucleotide variantPathogenicrs121917769GRCh37Chr 16, 20360247: 20360247
7UMODNM_003361.3(UMOD): c.383A> G (p.Asn128Ser)single nucleotide variantPathogenicrs121917770GRCh37Chr 16, 20360240: 20360240
8UMODNM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)single nucleotide variantPathogenicrs121917771GRCh37Chr 16, 20359859: 20359859
9UMODNM_003361.3(UMOD): c.898T> G (p.Cys300Gly)single nucleotide variantPathogenicrs121917772GRCh37Chr 16, 20359620: 20359620
10UMODNM_003361.3(UMOD): c.817G> T (p.Val273Phe)single nucleotide variantPathogenicrs121917774GRCh37Chr 16, 20359806: 20359806
11UMODNM_003361.3(UMOD): c.649T> G (p.Cys217Gly)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
12UMODNM_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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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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Cellular components related to Familial Juvenile Hyperuricaemic Nephropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163249.0UMOD, GP2
2anchored component of membraneGO:00312258.7UMOD, GP2

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.3UMOD, 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
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet