FJHN
MCID: URM003
MIFTS: 16

Uromodulin-Associated Kidney Disease (FJHN)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Uromodulin-Associated Kidney Disease

MalaCards integrated aliases for Uromodulin-Associated Kidney Disease:

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

Classifications:



Summaries for Uromodulin-Associated Kidney Disease

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 : Uromodulin-Associated Kidney Disease, also known as familial juvenile hyperuricemic nephropathy, is related to hyperuricemic nephropathy, familial juvenile, 1 and hyperuricemic nephropathy, familial juvenile, 2. An important gene associated with Uromodulin-Associated Kidney Disease is UMOD (Uromodulin). Affiliated tissues include kidney.

Related Diseases for Uromodulin-Associated Kidney Disease

Graphical network of the top 20 diseases related to Uromodulin-Associated Kidney Disease:



Diseases related to Uromodulin-Associated Kidney Disease

Symptoms & Phenotypes for Uromodulin-Associated Kidney Disease

Drugs & Therapeutics for Uromodulin-Associated Kidney Disease

Search Clinical Trials , NIH Clinical Center for Uromodulin-Associated Kidney Disease

Genetic Tests for Uromodulin-Associated Kidney Disease

Anatomical Context for Uromodulin-Associated Kidney Disease

MalaCards organs/tissues related to Uromodulin-Associated Kidney Disease:

41
Kidney

Publications for Uromodulin-Associated Kidney Disease

Articles related to Uromodulin-Associated Kidney Disease:

(show all 15)
# 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
First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD. ( 27489562 )
2016
3
Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families. ( 27764983 )
2016
4
A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy. ( 27795632 )
2016
5
Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease. ( 25671765 )
2015
6
Paradoxical response to furosemide in uromodulin-associated kidney disease. ( 25540096 )
2015
7
A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction. ( 25786455 )
2015
8
No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease. ( 24567330 )
2014
9
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
10
Association between genotype and phenotype in uromodulin-associated kidney disease. ( 23723338 )
2013
11
Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice. ( 23748428 )
2013
12
Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. ( 22740033 )
2012
13
Uromodulin-associated kidney disease. ( 21071970 )
2011
14
Mechanism of injury in uromodulin-associated kidney disease. ( 17182881 )
2007
15
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. ( 16164624 )
2005

Variations for Uromodulin-Associated Kidney Disease

ClinVar genetic disease variations for Uromodulin-Associated Kidney Disease:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 UMOD NM_003361.3(UMOD): c.522C> T (p.Cys174=) single nucleotide variant Benign rs7193058 GRCh37 Chromosome 16, 20360101: 20360101
2 UMOD NM_003361.3(UMOD): c.522C> T (p.Cys174=) single nucleotide variant Benign rs7193058 GRCh38 Chromosome 16, 20348779: 20348779
3 UMOD NM_003361.3(UMOD): c.792G> A (p.Val264=) single nucleotide variant Benign rs13335818 GRCh37 Chromosome 16, 20359831: 20359831
4 UMOD NM_003361.3(UMOD): c.792G> A (p.Val264=) single nucleotide variant Benign rs13335818 GRCh38 Chromosome 16, 20348509: 20348509
5 UMOD NM_003361.3(UMOD): c.885G> A (p.Gly295=) single nucleotide variant Benign rs28544423 GRCh37 Chromosome 16, 20359633: 20359633
6 UMOD NM_003361.3(UMOD): c.885G> A (p.Gly295=) single nucleotide variant Benign rs28544423 GRCh38 Chromosome 16, 20348311: 20348311
7 UMOD NM_003361.3(UMOD): c.840C> T (p.Pro280=) single nucleotide variant Benign rs78691203 GRCh37 Chromosome 16, 20359783: 20359783
8 UMOD NM_003361.3(UMOD): c.840C> T (p.Pro280=) single nucleotide variant Benign rs78691203 GRCh38 Chromosome 16, 20348461: 20348461
9 UMOD NM_003361.3(UMOD): c.538C> G (p.Leu180Val) single nucleotide variant Benign rs187555378 GRCh37 Chromosome 16, 20360085: 20360085
10 UMOD NM_003361.3(UMOD): c.538C> G (p.Leu180Val) single nucleotide variant Benign rs187555378 GRCh38 Chromosome 16, 20348763: 20348763
11 UMOD NM_003361.3(UMOD): c.1406C> T (p.Thr469Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143583842 GRCh37 Chromosome 16, 20352584: 20352584
12 UMOD NM_003361.3(UMOD): c.1406C> T (p.Thr469Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143583842 GRCh38 Chromosome 16, 20341262: 20341262
13 UMOD NM_003361.3(UMOD): c.264C> T (p.Gly88=) single nucleotide variant Benign rs77875418 GRCh38 Chromosome 16, 20349037: 20349037
14 UMOD NM_003361.3(UMOD): c.264C> T (p.Gly88=) single nucleotide variant Benign rs77875418 GRCh37 Chromosome 16, 20360359: 20360359
15 UMOD NM_003361.3(UMOD): c.1372G> T (p.Val458Leu) single nucleotide variant Benign rs55772253 GRCh37 Chromosome 16, 20352618: 20352618
16 UMOD NM_003361.3(UMOD): c.1372G> T (p.Val458Leu) single nucleotide variant Benign rs55772253 GRCh38 Chromosome 16, 20341296: 20341296
17 UMOD NM_003361.3(UMOD): c.*88G> A single nucleotide variant Likely benign rs547514548 GRCh37 Chromosome 16, 20344548: 20344548
18 UMOD NM_003361.3(UMOD): c.*88G> A single nucleotide variant Likely benign rs547514548 GRCh38 Chromosome 16, 20333226: 20333226
19 UMOD NM_003361.3(UMOD): c.1916T> C (p.Phe639Ser) single nucleotide variant Likely benign rs145165861 GRCh37 Chromosome 16, 20344643: 20344643
20 UMOD NM_003361.3(UMOD): c.1916T> C (p.Phe639Ser) single nucleotide variant Likely benign rs145165861 GRCh38 Chromosome 16, 20333321: 20333321
21 UMOD NM_003361.3(UMOD): c.1182+5G> T single nucleotide variant Uncertain significance rs755374625 GRCh38 Chromosome 16, 20346121: 20346121
22 UMOD NM_003361.3(UMOD): c.1182+5G> T single nucleotide variant Uncertain significance rs755374625 GRCh37 Chromosome 16, 20357443: 20357443
23 UMOD NM_003361.3(UMOD): c.1131G> C (p.Trp377Cys) single nucleotide variant Uncertain significance rs201738891 GRCh38 Chromosome 16, 20346177: 20346177
24 UMOD NM_003361.3(UMOD): c.1131G> C (p.Trp377Cys) single nucleotide variant Uncertain significance rs201738891 GRCh37 Chromosome 16, 20357499: 20357499
25 UMOD NM_003361.3(UMOD): c.1062C> T (p.Phe354=) single nucleotide variant Likely benign rs78613713 GRCh38 Chromosome 16, 20346246: 20346246
26 UMOD NM_003361.3(UMOD): c.1062C> T (p.Phe354=) single nucleotide variant Likely benign rs78613713 GRCh37 Chromosome 16, 20357568: 20357568
27 UMOD NM_003361.3(UMOD): c.184A> C (p.Thr62Pro) single nucleotide variant Likely benign rs143248111 GRCh38 Chromosome 16, 20349117: 20349117
28 UMOD NM_003361.3(UMOD): c.184A> C (p.Thr62Pro) single nucleotide variant Likely benign rs143248111 GRCh37 Chromosome 16, 20360439: 20360439
29 UMOD NM_003361.3(UMOD): c.*226_*229delCTTA deletion Uncertain significance rs886051782 GRCh37 Chromosome 16, 20344407: 20344410
30 UMOD NM_003361.3(UMOD): c.*226_*229delCTTA deletion Uncertain significance rs886051782 GRCh38 Chromosome 16, 20333085: 20333088
31 UMOD NM_003361.3(UMOD): c.*59G> A single nucleotide variant Uncertain significance rs886051783 GRCh37 Chromosome 16, 20344577: 20344577
32 UMOD NM_003361.3(UMOD): c.*59G> A single nucleotide variant Uncertain significance rs886051783 GRCh38 Chromosome 16, 20333255: 20333255
33 UMOD NM_003361.3(UMOD): c.1623G> T (p.Gly541=) single nucleotide variant Likely benign rs562726925 GRCh38 Chromosome 16, 20337408: 20337408
34 UMOD NM_003361.3(UMOD): c.1623G> T (p.Gly541=) single nucleotide variant Likely benign rs562726925 GRCh37 Chromosome 16, 20348730: 20348730
35 UMOD NM_003361.3(UMOD): c.1464C> T (p.Gly488=) single nucleotide variant Likely benign rs141912637 GRCh38 Chromosome 16, 20341204: 20341204
36 UMOD NM_003361.3(UMOD): c.1464C> T (p.Gly488=) single nucleotide variant Likely benign rs141912637 GRCh37 Chromosome 16, 20352526: 20352526
37 UMOD NM_003361.3(UMOD): c.425G> A (p.Arg142Gln) single nucleotide variant Benign rs199835347 GRCh38 Chromosome 16, 20348876: 20348876
38 UMOD NM_003361.3(UMOD): c.425G> A (p.Arg142Gln) single nucleotide variant Benign rs199835347 GRCh37 Chromosome 16, 20360198: 20360198
39 UMOD NM_003361.3(UMOD): c.*231A> G single nucleotide variant Uncertain significance rs886051781 GRCh37 Chromosome 16, 20344405: 20344405
40 UMOD NM_003361.3(UMOD): c.*231A> G single nucleotide variant Uncertain significance rs886051781 GRCh38 Chromosome 16, 20333083: 20333083
41 UMOD NM_003361.3(UMOD): c.*104C> T single nucleotide variant Benign rs111699931 GRCh37 Chromosome 16, 20344532: 20344532
42 UMOD NM_003361.3(UMOD): c.*104C> T single nucleotide variant Benign rs111699931 GRCh38 Chromosome 16, 20333210: 20333210
43 UMOD NM_003361.3(UMOD): c.1859dupT (p.Leu620Phefs) duplication Uncertain significance rs886051784 GRCh37 Chromosome 16, 20346806: 20346806
44 UMOD NM_003361.3(UMOD): c.1859dupT (p.Leu620Phefs) duplication Uncertain significance rs886051784 GRCh38 Chromosome 16, 20335484: 20335484
45 UMOD NM_003361.3(UMOD): c.1177T> C (p.Leu393=) single nucleotide variant Uncertain significance rs748849021 GRCh38 Chromosome 16, 20346131: 20346131
46 UMOD NM_003361.3(UMOD): c.1177T> C (p.Leu393=) single nucleotide variant Uncertain significance rs748849021 GRCh37 Chromosome 16, 20357453: 20357453
47 UMOD NM_003361.3(UMOD): c.974-15C> G single nucleotide variant Likely benign rs201798915 GRCh38 Chromosome 16, 20346349: 20346349
48 UMOD NM_003361.3(UMOD): c.974-15C> G single nucleotide variant Likely benign rs201798915 GRCh37 Chromosome 16, 20357671: 20357671
49 UMOD NM_003361.3(UMOD): c.865+7C> G single nucleotide variant Uncertain significance rs759063012 GRCh38 Chromosome 16, 20348429: 20348429
50 UMOD NM_003361.3(UMOD): c.865+7C> G single nucleotide variant Uncertain significance rs759063012 GRCh37 Chromosome 16, 20359751: 20359751

Expression for Uromodulin-Associated Kidney Disease

Search GEO for disease gene expression data for Uromodulin-Associated Kidney Disease.

Pathways for Uromodulin-Associated Kidney Disease

GO Terms for Uromodulin-Associated Kidney Disease

Sources for Uromodulin-Associated Kidney Disease

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