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 47
Familial Juvenile Hyperuricemic Nephropathy 47 25
Medullary Cystic Kidney Disease Type 2 25 67
Uromodulin-Associated Kidney Disease 47 25
Umod-Related Kidney Disease 47 25
Fjhn 47 25
Familial Nephropathy Associated with Hyperuricemia 47
Medullary Cystic Kidney Disease Type Ii 67
Gouty Nephropathy, Familial Juvenile 47
Familial Juvenile Gouty Nephropathy 47
Nephropathy, Familial, with Gout 47
 
Familial Nephropathy with Gout 47
Familial Gout-Kidney Disease 25
Gouty Nephropathy, Familial 47
Juvenile Gouty Nephropathy 47
Uromodulin Storage Disease 25
Familial Gouty Nephropathy 25
Familial Juvenile Gout 67
Juvenile Gout 47
Mckd2 25
Umak 25

Classifications:



Summaries for Familial Juvenile Hyperuricaemic Nephropathy

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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.

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.

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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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:

35
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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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet