FJHN
MCID: ATS420
MIFTS: 21

Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations (FJHN)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

MalaCards integrated aliases for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations:

Name: Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations 54
Uromodulin-Associated Kidney Disease 54 26 6
Mckd2 54 26
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 54
Autosomal Dominant Medullary Cystic Kidney Disease Type 2 54
Familial Juvenile Hyperuricemic Nephropathy 1 54
Familial Juvenile Hyperuricemic Nephropathy 26
Kidney Disease, Cystic, Medullary, Type 2 41
Medullary Cystic Kidney Disease Type Ii 17
Medullary Cystic Kidney Disease Type 2 26
Medullary Cystic Kidney Disease 2 54
Umod-Associated Kidney Disease 54
Familial Gout-Kidney Disease 26
Adtkd Due to Umod Mutations 54
Umod-Related Kidney Disease 26
Familial Gouty Nephropathy 26
Uromodulin Storage Disease 26
Uromodulin Kidney Disease 54
Umod-Related Adtkd 54
Adtkd-Umod 54
Fjhn 26
Umak 26

Classifications:



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Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

NIH Rare Diseases : 54 Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD�??UMOD) is an inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. Gout is a form of arthritis (inflammation) that occurs often in the big toe, ankle, knee, or other joints. ADTKD-UMOD is caused by a mistake (mutation) in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. ADTKD-UMOD is inherited in a dominant pattern in families. It is diagnosed based on the symptoms, laboratory testing, family historyandgenetic testing. Many of the symptoms of ADTKD-UMOD can be treated with medication. For patients whose kidney function worsens to end-stage kidney disease, kidney transplant and dialysis can be used. The long-term outlook for people with ADTKD-UMOD is good, though patients may require dialysis or kidney transplantation between the ages of 30 and 70.

MalaCards based summary : Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations, also known as uromodulin-associated kidney disease, is related to medullary cystic kidney disease 2 and hyperuricemic nephropathy, familial juvenile, 1. An important gene associated with Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations is UMOD (Uromodulin). Affiliated tissues include kidney and testes.

Genetics Home Reference : 26 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 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

Graphical network of the top 20 diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations:



Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations

Symptoms & Phenotypes for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

Drugs & Therapeutics for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations

Genetic Tests for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

Anatomical Context for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

MalaCards organs/tissues related to Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations:

42
Kidney, Testes

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

Articles related to Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations:

(show all 12)
# 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
Paradoxical response to furosemide in uromodulin-associated kidney disease. ( 25540096 )
2015
4
A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction. ( 25786455 )
2015
5
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
6
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
7
Association between genotype and phenotype in uromodulin-associated kidney disease. ( 23723338 )
2013
8
Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice. ( 23748428 )
2013
9
Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. ( 22740033 )
2012
10
Uromodulin-associated kidney disease. ( 21071970 )
2011
11
Mechanism of injury in uromodulin-associated kidney disease. ( 17182881 )
2007
12
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. ( 16164624 )
2005

Variations for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

ClinVar genetic disease variations for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations:

6 (show top 50) (show all 68)
# 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.522C> T (p.Cys174=) single nucleotide variant Benign rs7193058 GRCh37 Chromosome 16, 20360101: 20360101
8 UMOD NM_003361.3(UMOD): c.522C> T (p.Cys174=) single nucleotide variant Benign rs7193058 GRCh38 Chromosome 16, 20348779: 20348779
9 UMOD NM_003361.3(UMOD): c.792G> A (p.Val264=) single nucleotide variant Benign rs13335818 GRCh37 Chromosome 16, 20359831: 20359831
10 UMOD NM_003361.3(UMOD): c.792G> A (p.Val264=) single nucleotide variant Benign rs13335818 GRCh38 Chromosome 16, 20348509: 20348509
11 UMOD NM_003361.3(UMOD): c.885G> A (p.Gly295=) single nucleotide variant Benign rs28544423 GRCh37 Chromosome 16, 20359633: 20359633
12 UMOD NM_003361.3(UMOD): c.885G> A (p.Gly295=) single nucleotide variant Benign rs28544423 GRCh38 Chromosome 16, 20348311: 20348311
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

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