FJHN
MCID: ATS420
MIFTS: 24

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

Categories: Blood diseases, 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 53
Uromodulin-Associated Kidney Disease 53 25 6
Mckd2 53 25
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 53
Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease 53
Autosomal Dominant Medullary Cystic Kidney Disease Type 2 53
Familial Juvenile Hyperuricemic Nephropathy 1 53
Familial Juvenile Hyperuricemic Nephropathy 25
Medullary Cystic Kidney Disease Type 2 25
Medullary Cystic Kidney Disease 2 53
Umod-Associated Kidney Disease 53
Familial Gout-Kidney Disease 25
Adtkd Due to Umod Mutations 53
Umod-Related Kidney Disease 25
Familial Gouty Nephropathy 25
Uromodulin Storage Disease 25
Uromodulin Kidney Disease 53
Umod-Related Adtkd 53
Adtkd-Umod 53
Fjhn 25
Umak 25

Classifications:



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

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. Many individuals with uromodulin-associated kidney disease 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 this condition, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. The signs and symptoms of gout may appear as early as a person's teens in uromodulin-associated kidney disease. Uromodulin-associated kidney disease causes slowly progressive kidney disease, with the signs and symptoms usually beginning during the teenage years. The kidneys become less able to filter fluids and waste products from the body as this condition progresses, resulting in kidney failure. Individuals with uromodulin-associated kidney disease typically require either dialysis to remove wastes from the blood or a kidney transplant between the ages of 30 and 70. Occasionally, affected individuals are found to have small kidneys or kidney cysts (medullary cysts).

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

NIH Rare Diseases : 53 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 history and genetic 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.

Related Diseases for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod...

Diseases in the Autosomal Dominant Tubulointerstitial Kidney Disease family:

Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations

Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 hyperuricemic nephropathy, familial juvenile, 1 12.7
2 hyperuricemic nephropathy, familial juvenile, 2 12.3
3 hyperuricemic nephropathy, familial juvenile, 4 12.2
4 renal cysts and diabetes syndrome 12.0
5 nephronophthisis 11.9
6 autosomal dominant tubulointerstitial kidney disease, umod-related 11.9
7 autosomal dominant tubulointerstitial kidney disease due to ren mutations 11.7
8 autosomal dominant tubulointerstitial kidney disease, ren-related 11.6
9 ren-related kidney disease 11.6
10 gout 10.7
11 chronic kidney disease 10.7
12 cystic kidney disease 10.5
13 medullary cystic kidney disease 2 10.5
14 interstitial nephritis 10.5
15 end stage renal failure 10.5
16 hyperuricemia 10.4
17 kidney disease 10.4
18 autosomal dominant tubulointerstitial kidney disease 10.4
19 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.3
20 nephrolithiasis, calcium oxalate 10.2
21 medullary cystic kidney disease 1 10.2
22 hyperuricemic nephropathy, familial juvenile, 3 10.2
23 renal hypertension 10.2
24 autosomal dominant tubulointerstitial kidney disease, muc1-related 10.2
25 juvenile nephronophthisis 10.1
26 renal fibrosis 10.1
27 vesicoureteral reflux 1 10.1
28 renal hypoplasia 10.1

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:

41
Kidney, Testes, Bone

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

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

(show all 26)
# Title Authors PMID Year
1
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 38 6
25738250 2015
2
Uromodulin: from physiology to rare and complex kidney disorders. 6
28781372 2017
3
Tamm-Horsfall protein/uromodulin deficiency elicits tubular compensatory responses leading to hypertension and hyperuricemia. 38
29357410 2018
4
Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis. 38
28990932 2017
5
A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. 38
27729211 2017
6
First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD. 38
27489562 2016
7
Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease. 38
25671765 2015
8
Paradoxical response to furosemide in uromodulin-associated kidney disease. 38
25540096 2015
9
A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction. 38
25786455 2015
10
[Kidney diseases associated with uromodulin (Tamm-Horsfall protein)]. 38
26479057 2015
11
No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease. 38
24567330 2014
12
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. 38
25409434 2014
13
Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice. 38
23748428 2013
14
Association between genotype and phenotype in uromodulin-associated kidney disease. 38
23723338 2013
15
Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice. 38
24205203 2013
16
Changes in serum urate and urate excretion with age. 38
23089271 2012
17
Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. 38
22740033 2012
18
Detection of mutant uromodulin in transgenic mouse harboring a mutant human UMOD gene. 38
22132988 2011
19
Uromodulin-associated kidney disease. 38
21071970 2011
20
Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism. 38
19692485 2009
21
[Familial juvenile hyperuricemic nephropathy (FJHN)]. 38
18409515 2008
22
Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related 38
20301530 2007
23
Mechanism of injury in uromodulin-associated kidney disease. 38
17182881 2007
24
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. 38
16164624 2005
25
Clinico-pathologic findings in medullary cystic kidney disease type 2. 38
15844001 2005
26
Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. 38
12900848 2003

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 all 34)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 UMOD NM_003361.3(UMOD): c.490G> T (p.Glu164Ter) single nucleotide variant Pathogenic rs1057515585 16:20360133-20360133 16:20348811-20348811
2 UMOD NM_003361.3(UMOD): c.1406C> T (p.Thr469Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143583842 16:20352584-20352584 16:20341262-20341262
3 UMOD NM_003361.3(UMOD): c.1182+5G> T single nucleotide variant Uncertain significance rs755374625 16:20357443-20357443 16:20346121-20346121
4 UMOD NM_003361.3(UMOD): c.1131G> C (p.Trp377Cys) single nucleotide variant Uncertain significance rs201738891 16:20357499-20357499 16:20346177-20346177
5 UMOD NM_003361.3(UMOD): c.*226_*229del deletion Uncertain significance rs886051782 16:20344407-20344410 16:20333085-20333088
6 UMOD NM_003361.3(UMOD): c.*59G> A single nucleotide variant Uncertain significance rs886051783 16:20344577-20344577 16:20333255-20333255
7 UMOD NM_003361.3(UMOD): c.*231A> G single nucleotide variant Uncertain significance rs886051781 16:20344405-20344405 16:20333083-20333083
8 UMOD NM_003361.3(UMOD): c.1859dup (p.Leu620fs) duplication Uncertain significance rs886051784 16:20346806-20346806 16:20335484-20335484
9 UMOD NM_003361.3(UMOD): c.1177T> C (p.Leu393=) single nucleotide variant Uncertain significance rs748849021 16:20357453-20357453 16:20346131-20346131
10 UMOD NM_003361.3(UMOD): c.865+7C> G single nucleotide variant Uncertain significance rs759063012 16:20359751-20359751 16:20348429-20348429
11 UMOD NM_003361.3(UMOD): c.-14del deletion Likely benign rs764637746 16:20362073-20362073 16:20350751-20350751
12 UMOD NM_003361.3(UMOD): c.1742C> A (p.Thr581Asn) single nucleotide variant Likely benign rs143641292 16:20348048-20348048 16:20336726-20336726
13 UMOD NM_003361.3(UMOD): c.1500A> G (p.Ala500=) single nucleotide variant Likely benign rs200895986 16:20352490-20352490 16:20341168-20341168
14 UMOD NM_003361.3(UMOD): c.974-15C> G single nucleotide variant Likely benign rs201798915 16:20357671-20357671 16:20346349-20346349
15 UMOD NM_003361.3(UMOD): c.1375C> T (p.Arg459Trp) single nucleotide variant Likely benign rs139607138 16:20352615-20352615 16:20341293-20341293
16 UMOD NM_003361.3(UMOD): c.1623G> T (p.Gly541=) single nucleotide variant Likely benign rs562726925 16:20348730-20348730 16:20337408-20337408
17 UMOD NM_003361.3(UMOD): c.1464C> T (p.Gly488=) single nucleotide variant Likely benign rs141912637 16:20352526-20352526 16:20341204-20341204
18 UMOD NM_003361.3(UMOD): c.1062C> T (p.Phe354=) single nucleotide variant Likely benign rs78613713 16:20357568-20357568 16:20346246-20346246
19 UMOD NM_003361.3(UMOD): c.184A> C (p.Thr62Pro) single nucleotide variant Likely benign rs143248111 16:20360439-20360439 16:20349117-20349117
20 UMOD NM_003361.3(UMOD): c.*88G> A single nucleotide variant Likely benign rs547514548 16:20344548-20344548 16:20333226-20333226
21 UMOD NM_003361.3(UMOD): c.1916T> C (p.Phe639Ser) single nucleotide variant Likely benign rs145165861 16:20344643-20344643 16:20333321-20333321
22 UMOD NM_003361.3(UMOD): c.264C> T (p.Gly88=) single nucleotide variant Benign rs77875418 16:20360359-20360359 16:20349037-20349037
23 UMOD NM_003361.3(UMOD): c.1372G> T (p.Val458Leu) single nucleotide variant Benign rs55772253 16:20352618-20352618 16:20341296-20341296
24 UMOD NM_003361.3(UMOD): c.522C> T (p.Cys174=) single nucleotide variant Benign rs7193058 16:20360101-20360101 16:20348779-20348779
25 UMOD NM_003361.3(UMOD): c.792G> A (p.Val264=) single nucleotide variant Benign rs13335818 16:20359831-20359831 16:20348509-20348509
26 UMOD NM_003361.3(UMOD): c.885G> A (p.Gly295=) single nucleotide variant Benign rs28544423 16:20359633-20359633 16:20348311-20348311
27 UMOD NM_003361.3(UMOD): c.840C> T (p.Pro280=) single nucleotide variant Benign rs78691203 16:20359783-20359783 16:20348461-20348461
28 UMOD NM_003361.3(UMOD): c.538C> G (p.Leu180Val) single nucleotide variant Benign rs187555378 16:20360085-20360085 16:20348763-20348763
29 UMOD NM_003361.3(UMOD): c.425G> A (p.Arg142Gln) single nucleotide variant Benign rs199835347 16:20360198-20360198 16:20348876-20348876
30 UMOD NM_003361.3(UMOD): c.-47T> C single nucleotide variant Benign rs75645968 16:20362106-20362106 16:20350784-20350784
31 UMOD NM_003361.3(UMOD): c.-56G> A single nucleotide variant Benign rs79245268 16:20362115-20362115 16:20350793-20350793
32 UMOD NM_003361.3(UMOD): c.*104C> T single nucleotide variant Benign rs111699931 16:20344532-20344532 16:20333210-20333210
33 UMOD NM_003361.3(UMOD): c.1458C> T (p.Tyr486=) single nucleotide variant Benign rs141800038 16:20352532-20352532 16:20341210-20341210
34 UMOD NM_003361.3(UMOD): c.*130C> T single nucleotide variant Benign rs113468667 16:20344506-20344506 16:20333184-20333184

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

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