MCID: FML076
MIFTS: 24

Familial Juvenile Hyperuricaemic Nephropathy

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Familial Juvenile Hyperuricaemic Nephropathy

MalaCards integrated aliases for Familial Juvenile Hyperuricaemic Nephropathy:

Name: Familial Juvenile Hyperuricaemic Nephropathy 53
Uromodulin-Associated Kidney Disease 53 25 6
Medullary Cystic Kidney Disease Type 2 25 73
Umod-Related Kidney Disease 53 25
Fjhn 53 25
Familial Juvenile Hyperuricemic Nephropathy 25
Kidney Disease, Cystic, Medullary, Type 2 40
Medullary Cystic Kidney Disease Type Ii 73
Gouty Nephropathy, Familial Juvenile 53
Nephropathy, Familial, with Gout 53
Familial Gout-Kidney Disease 25
Familial Gouty Nephropathy 25
Uromodulin Storage Disease 25
Familial Juvenile Gout 73
Juvenile Gout 53
Mckd2 25
Umak 25

Classifications:



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Summaries for Familial Juvenile Hyperuricaemic Nephropathy

NIH Rare Diseases : 53 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.

MalaCards based summary : Familial Juvenile Hyperuricaemic Nephropathy, also known as uromodulin-associated kidney disease, is related to lesch-nyhan syndrome 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

Diseases related to Familial Juvenile Hyperuricaemic Nephropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lesch-nyhan syndrome 11.6
2 hyperuricemic nephropathy, familial juvenile, 1 11.6
3 autosomal dominant tubulointerstitial kidney disease, umod-related 11.5
4 renal cysts and diabetes syndrome 11.2
5 hyperuricemic nephropathy, familial juvenile, 2 11.0
6 autosomal dominant tubulointerstitial kidney disease due to ren mutations 11.0
7 medullary cystic kidney disease 2 10.1
8 cystic kidney disease 10.1
9 kidney disease 10.1

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:

41
Kidney, Liver

Publications for Familial Juvenile Hyperuricaemic Nephropathy

Articles related to Familial Juvenile Hyperuricaemic Nephropathy:

(show all 24)
# Title Authors Year
1
A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin- associated kidney disease. ( 27729211 )
2016
2
Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease. ( 25671765 )
2015
3
Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy. ( 24886545 )
2014
4
Uromodulin Retention in Thick Ascending Limb of Henle's Loop Affects SCD1 in Neighboring Proximal Tubule: Renal Transcriptome Studies in Mouse Models of Uromodulin-Associated Kidney Disease. ( 25409434 )
2014
5
Association between genotype and phenotype in uromodulin-associated kidney disease. ( 23723338 )
2013
6
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure. ( 20472742 )
2010
7
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. ( 19465746 )
2009
8
Outcome of kidney transplantation in familial juvenile hyperuricaemic nephropathy. ( 17595184 )
2007
9
Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain. ( 17065066 )
2006
10
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. ( 16164624 )
2005
11
Familial juvenile hyperuricaemic nephropathy. ( 15208434 )
2004
12
Familial juvenile hyperuricaemic nephropathy. ( 14747627 )
2004
13
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. ( 15575003 )
2004
14
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
15
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
16
Familial juvenile hyperuricaemic nephropathy. ( 12589017 )
2003
17
Familial juvenile hyperuricaemic nephropathy. ( 14566042 )
2003
18
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. ( 12471200 )
2002
19
Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations. ( 12105260 )
2002
20
Efficacy of allopurinol in ameliorating the progressive renal disease in familial juvenile hyperuricaemic nephropathy (FJHN). A six-year update. ( 9598022 )
1998
21
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. ( 9686952 )
1998
22
Familial renal disease or familial juvenile hyperuricaemic nephropathy? ( 9266353 )
1997
23
Familial juvenile hyperuricaemic nephropathy in adolescents. ( 7661009 )
1994
24
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
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 UMOD NM_003361.3(UMOD): c.840C> T (p.Pro280=) single nucleotide variant Benign rs78691203 GRCh37 Chromosome 16, 20359783: 20359783
2 UMOD NM_003361.3(UMOD): c.840C> T (p.Pro280=) single nucleotide variant Benign rs78691203 GRCh38 Chromosome 16, 20348461: 20348461
3 UMOD NM_003361.3(UMOD): c.538C> G (p.Leu180Val) single nucleotide variant Benign rs187555378 GRCh37 Chromosome 16, 20360085: 20360085
4 UMOD NM_003361.3(UMOD): c.538C> G (p.Leu180Val) single nucleotide variant Benign rs187555378 GRCh38 Chromosome 16, 20348763: 20348763
5 UMOD NM_003361.3(UMOD): c.1406C> T (p.Thr469Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143583842 GRCh37 Chromosome 16, 20352584: 20352584
6 UMOD NM_003361.3(UMOD): c.1406C> T (p.Thr469Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143583842 GRCh38 Chromosome 16, 20341262: 20341262
7 UMOD NM_003361.3(UMOD): c.264C> T (p.Gly88=) single nucleotide variant Benign rs77875418 GRCh38 Chromosome 16, 20349037: 20349037
8 UMOD NM_003361.3(UMOD): c.264C> T (p.Gly88=) single nucleotide variant Benign rs77875418 GRCh37 Chromosome 16, 20360359: 20360359
9 UMOD NM_003361.3(UMOD): c.1372G> T (p.Val458Leu) single nucleotide variant Benign rs55772253 GRCh37 Chromosome 16, 20352618: 20352618
10 UMOD NM_003361.3(UMOD): c.1372G> T (p.Val458Leu) single nucleotide variant Benign rs55772253 GRCh38 Chromosome 16, 20341296: 20341296
11 UMOD NM_003361.3(UMOD): c.*88G> A single nucleotide variant Likely benign rs547514548 GRCh37 Chromosome 16, 20344548: 20344548
12 UMOD NM_003361.3(UMOD): c.*88G> A single nucleotide variant Likely benign rs547514548 GRCh38 Chromosome 16, 20333226: 20333226
13 UMOD NM_003361.3(UMOD): c.1916T> C (p.Phe639Ser) single nucleotide variant Likely benign rs145165861 GRCh37 Chromosome 16, 20344643: 20344643
14 UMOD NM_003361.3(UMOD): c.1916T> C (p.Phe639Ser) single nucleotide variant Likely benign rs145165861 GRCh38 Chromosome 16, 20333321: 20333321
15 UMOD NM_003361.3(UMOD): c.1182+5G> T single nucleotide variant Uncertain significance rs755374625 GRCh38 Chromosome 16, 20346121: 20346121
16 UMOD NM_003361.3(UMOD): c.1182+5G> T single nucleotide variant Uncertain significance rs755374625 GRCh37 Chromosome 16, 20357443: 20357443
17 UMOD NM_003361.3(UMOD): c.1131G> C (p.Trp377Cys) single nucleotide variant Uncertain significance rs201738891 GRCh38 Chromosome 16, 20346177: 20346177
18 UMOD NM_003361.3(UMOD): c.1131G> C (p.Trp377Cys) single nucleotide variant Uncertain significance rs201738891 GRCh37 Chromosome 16, 20357499: 20357499
19 UMOD NM_003361.3(UMOD): c.1062C> T (p.Phe354=) single nucleotide variant Likely benign rs78613713 GRCh38 Chromosome 16, 20346246: 20346246
20 UMOD NM_003361.3(UMOD): c.1062C> T (p.Phe354=) single nucleotide variant Likely benign rs78613713 GRCh37 Chromosome 16, 20357568: 20357568
21 UMOD NM_003361.3(UMOD): c.184A> C (p.Thr62Pro) single nucleotide variant Likely benign rs143248111 GRCh38 Chromosome 16, 20349117: 20349117
22 UMOD NM_003361.3(UMOD): c.184A> C (p.Thr62Pro) single nucleotide variant Likely benign rs143248111 GRCh37 Chromosome 16, 20360439: 20360439
23 UMOD NM_003361.3(UMOD): c.*226_*229delCTTA deletion Uncertain significance rs886051782 GRCh38 Chromosome 16, 20333085: 20333088
24 UMOD NM_003361.3(UMOD): c.*226_*229delCTTA deletion Uncertain significance rs886051782 GRCh37 Chromosome 16, 20344407: 20344410
25 UMOD NM_003361.3(UMOD): c.*59G> A single nucleotide variant Uncertain significance rs886051783 GRCh37 Chromosome 16, 20344577: 20344577
26 UMOD NM_003361.3(UMOD): c.*59G> A single nucleotide variant Uncertain significance rs886051783 GRCh38 Chromosome 16, 20333255: 20333255
27 UMOD NM_003361.3(UMOD): c.1623G> T (p.Gly541=) single nucleotide variant Likely benign rs562726925 GRCh38 Chromosome 16, 20337408: 20337408
28 UMOD NM_003361.3(UMOD): c.1623G> T (p.Gly541=) single nucleotide variant Likely benign rs562726925 GRCh37 Chromosome 16, 20348730: 20348730
29 UMOD NM_003361.3(UMOD): c.1464C> T (p.Gly488=) single nucleotide variant Likely benign rs141912637 GRCh38 Chromosome 16, 20341204: 20341204
30 UMOD NM_003361.3(UMOD): c.1464C> T (p.Gly488=) single nucleotide variant Likely benign rs141912637 GRCh37 Chromosome 16, 20352526: 20352526
31 UMOD NM_003361.3(UMOD): c.425G> A (p.Arg142Gln) single nucleotide variant Benign rs199835347 GRCh38 Chromosome 16, 20348876: 20348876
32 UMOD NM_003361.3(UMOD): c.425G> A (p.Arg142Gln) single nucleotide variant Benign rs199835347 GRCh37 Chromosome 16, 20360198: 20360198
33 UMOD NM_003361.3(UMOD): c.*231A> G single nucleotide variant Uncertain significance rs886051781 GRCh37 Chromosome 16, 20344405: 20344405
34 UMOD NM_003361.3(UMOD): c.*231A> G single nucleotide variant Uncertain significance rs886051781 GRCh38 Chromosome 16, 20333083: 20333083
35 UMOD NM_003361.3(UMOD): c.*104C> T single nucleotide variant Benign rs111699931 GRCh37 Chromosome 16, 20344532: 20344532
36 UMOD NM_003361.3(UMOD): c.*104C> T single nucleotide variant Benign rs111699931 GRCh38 Chromosome 16, 20333210: 20333210
37 UMOD NM_003361.3(UMOD): c.1859dupT (p.Leu620Phefs) duplication Uncertain significance rs886051784 GRCh37 Chromosome 16, 20346806: 20346806
38 UMOD NM_003361.3(UMOD): c.1859dupT (p.Leu620Phefs) duplication Uncertain significance rs886051784 GRCh38 Chromosome 16, 20335484: 20335484
39 UMOD NM_003361.3(UMOD): c.1177T> C (p.Leu393=) single nucleotide variant Uncertain significance rs748849021 GRCh38 Chromosome 16, 20346131: 20346131
40 UMOD NM_003361.3(UMOD): c.1177T> C (p.Leu393=) single nucleotide variant Uncertain significance rs748849021 GRCh37 Chromosome 16, 20357453: 20357453
41 UMOD NM_003361.3(UMOD): c.974-15C> G single nucleotide variant Likely benign rs201798915 GRCh38 Chromosome 16, 20346349: 20346349
42 UMOD NM_003361.3(UMOD): c.974-15C> G single nucleotide variant Likely benign rs201798915 GRCh37 Chromosome 16, 20357671: 20357671
43 UMOD NM_003361.3(UMOD): c.865+7C> G single nucleotide variant Uncertain significance rs759063012 GRCh38 Chromosome 16, 20348429: 20348429
44 UMOD NM_003361.3(UMOD): c.865+7C> G single nucleotide variant Uncertain significance rs759063012 GRCh37 Chromosome 16, 20359751: 20359751
45 UMOD NM_003361.3(UMOD): c.-14delG deletion Likely benign rs764637746 GRCh38 Chromosome 16, 20350751: 20350751
46 UMOD NM_003361.3(UMOD): c.-14delG deletion Likely benign rs764637746 GRCh37 Chromosome 16, 20362073: 20362073
47 UMOD NM_003361.3(UMOD): c.*130C> T single nucleotide variant Benign rs113468667 GRCh37 Chromosome 16, 20344506: 20344506
48 UMOD NM_003361.3(UMOD): c.*130C> T single nucleotide variant Benign rs113468667 GRCh38 Chromosome 16, 20333184: 20333184
49 UMOD NM_003361.3(UMOD): c.1742C> A (p.Thr581Asn) single nucleotide variant Likely benign rs143641292 GRCh37 Chromosome 16, 20348048: 20348048
50 UMOD NM_003361.3(UMOD): c.1742C> A (p.Thr581Asn) single nucleotide variant Likely benign rs143641292 GRCh38 Chromosome 16, 20336726: 20336726

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:

# 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:

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

Sources for Familial Juvenile Hyperuricaemic Nephropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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