FJHN
MCID: ATS312
MIFTS: 26

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related (FJHN)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

MalaCards integrated aliases for Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

Name: Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 24 52
Umod-Associated Kidney Disease 24 52 29 6
Familial Juvenile Hyperuricemic Nephropathy 1 24 52
Medullary Cystic Kidney Disease Type 2 25 71
Uromodulin-Associated Kidney Disease 52 25
Medullary Cystic Kidney Disease 2 24 52
Uromodulin Kidney Disease 24 52
Adtkd-Umod 24 52
Mckd2 52 25
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations 52
Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease 52
Autosomal Dominant Medullary Cystic Kidney Disease Type 2 52
Familial Juvenile Hyperuricemic Nephropathy Type 1 52
Familial Juvenile Hyperuricemic Nephropathy 25
Familial Gout-Kidney Disease 25
Adtkd Due to Umod Mutations 52
Umod-Related Kidney Disease 25
Familial Gouty Nephropathy 25
Uromodulin Storage Disease 25
Familial Juvenile Gout 71
Umod-Related Adtkd 52
Fjhn 25
Umak 25

Characteristics:

GeneReviews:

24
Penetrance Penetrance appears to be complete, although some individuals (especially females) may not develop esrd until the sixth or seventh decade....

Classifications:



External Ids:

UMLS 71 C0268113 C1859040

Summaries for Autosomal Dominant Tubulointerstitial 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. 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, Umod-Related, also known as umod-associated kidney disease, is related to hyperuricemic nephropathy, familial juvenile, 2 and hyperuricemic nephropathy, familial juvenile, 4. An important gene associated with Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related is UMOD (Uromodulin). Affiliated tissues include kidney and testes.

NIH Rare Diseases : 52 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.

GeneReviews: NBK1356

Related Diseases for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Diseases in the Autosomal Dominant Tubulointerstitial Kidney Disease family:

Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 hyperuricemic nephropathy, familial juvenile, 2 12.3
2 hyperuricemic nephropathy, familial juvenile, 4 12.2
3 renal cysts and diabetes syndrome 12.0
4 autosomal dominant tubulointerstitial kidney disease, ren-related 11.8
5 ren-related kidney disease 11.6
6 chronic kidney disease 10.6
7 interstitial nephritis 10.5
8 end stage renal disease 10.5
9 hyperuricemic nephropathy, familial juvenile, 1 10.4
10 medullary cystic kidney disease 2 10.4
11 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.4
12 nephronophthisis 10.4
13 gout 10.4
14 hyperuricemia 10.4
15 cystic kidney disease 10.4
16 kidney disease 10.4
17 autosomal dominant tubulointerstitial kidney disease 10.4
18 nephrolithiasis, calcium oxalate 10.2
19 medullary cystic kidney disease 1 10.2
20 hyperuricemic nephropathy, familial juvenile, 3 10.2
21 renal hypertension 10.2
22 autosomal dominant tubulointerstitial kidney disease, muc1-related 10.2
23 hnf1b-related autosomal dominant tubulointerstitial kidney disease 10.2
24 juvenile nephronophthisis 10.1
25 vesicoureteral reflux 1 10.1
26 renal hypoplasia 10.1
27 renal fibrosis 10.1

Graphical network of the top 20 diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:



Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Symptoms & Phenotypes for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Drugs & Therapeutics for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Genetic Tests for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Genetic tests related to Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

# Genetic test Affiliating Genes
1 Umod-Associated Kidney Disease 29

Anatomical Context for Autosomal Dominant Tubulointerstitial Kidney Disease,...

MalaCards organs/tissues related to Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

40
Kidney, Testes

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Articles related to Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

(show all 49)
# Title Authors PMID Year
1
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 52 24
25738250 2015
2
Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related 61 6
20301530 2007
3
Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. 24 61
22034507 2011
4
Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. 24 61
15327389 2004
5
Uromodulin: from physiology to rare and complex kidney disorders. 52
28781372 2017
6
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. 24
23396133 2013
7
Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity. 24
23840514 2013
8
Nephronophthisis. 24
20652329 2011
9
Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. 24
21081491 2011
10
Hereditary interstitial kidney disease. 24
20807609 2010
11
Childhood course of renal insufficiency in a family with a uromodulin gene mutation. 24
20151160 2010
12
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 24
19664745 2009
13
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. 24
19465746 2009
14
Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. 24
16395272 2006
15
Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation. 24
17065110 2006
16
Analysis of excretion fraction of uric acid. 24
17065111 2006
17
A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. 24
15983957 2005
18
Clinico-pathologic findings in medullary cystic kidney disease type 2. 24
15844001 2005
19
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 24
15086896 2004
20
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 24
14570709 2003
21
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. 24
14569098 2003
22
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. 24
14531790 2003
23
Familial juvenile hyperuricaemic nephropathy. 24
14566042 2003
24
Tamm-Horsfall glycoprotein: biology and clinical relevance. 24
14520616 2003
25
Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. 24
12787393 2003
26
Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 24
12651868 2003
27
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. 24
12629136 2003
28
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 24
12471200 2002
29
Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. 24
12205338 2002
30
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? 24
11675411 2001
31
Autosomal-dominant chronic interstitial nephritis with early hyperuricemia. 24
11068651 2000
32
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. 24
9686952 1998
33
Protein binding versus protein folding: the role of hydrophilic bridges in protein associations. 24
8995525 1997
34
Abnormal serum uric acid levels in children. 24
8648529 1996
35
Gout, uric acid and purine metabolism in paediatric nephrology. 24
8439471 1993
36
Hereditary nephropathy associated with hyperuricemia and gout. 24
8427538 1993
37
The nephronophthisis complex: clinical and genetic aspects. 24
1450635 1992
38
Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. 24
1873940 1991
39
Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? 24
2702088 1989
40
Familial urate nephropathy. 24
7296976 1981
41
Familial gout and renal failure in young women. 24
7428192 1980
42
Plasma uric acid levels in children. 24
5356987 1969
43
THE DISTRIBUTION OF SERUM URIC ACID VALUES IN A POPULATION UNSELECTED AS TO GOUT OR HYPERURICEMIA: TECUMSEH, MICHIGAN 1959-1960. 24
14320691 1965
44
From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis. 61
26872483 2016
45
Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find. 61
26810206 2016
46
Single-nucleotide polymorphism of the UMOD promoter is associated with the outcome of chronic kidney disease patients. 61
26171171 2015
47
No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease. 61
24567330 2014
48
A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy. 61
23826568 2013
49
Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis. 61
23466996 2013

Variations for Autosomal Dominant Tubulointerstitial Kidney Disease,...

ClinVar genetic disease variations for Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UMOD NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys)SNV Conflicting interpretations of pathogenicity 884577 16:20355434-20355434 16:20344112-20344112
2 UMOD NM_003361.4(UMOD):c.*262C>GSNV Uncertain significance 884507 16:20344374-20344374 16:20333052-20333052
3 UMOD NM_003361.4(UMOD):c.*39C>TSNV Uncertain significance 885443 16:20344597-20344597 16:20333275-20333275
4 UMOD NM_003361.4(UMOD):c.1520A>G (p.Tyr507Cys)SNV Uncertain significance 886470 16:20352470-20352470 16:20341148-20341148
5 UMOD NM_003361.4(UMOD):c.895G>A (p.Glu299Lys)SNV Uncertain significance 885511 16:20359623-20359623 16:20348301-20348301
6 UMOD NM_003361.4(UMOD):c.808G>A (p.Gly270Ser)SNV Uncertain significance 886536 16:20359815-20359815 16:20348493-20348493
7 UMOD NM_003361.4(UMOD):c.480C>T (p.Asp160=)SNV Uncertain significance 887783 16:20360143-20360143 16:20348821-20348821
8 UMOD NM_003361.4(UMOD):c.472G>A (p.Gly158Arg)SNV Uncertain significance 887784 16:20360151-20360151 16:20348829-20348829
9 UMOD NM_003361.4(UMOD):c.139G>A (p.Val47Ile)SNV Uncertain significance 884636 16:20360484-20360484 16:20349162-20349162
10 UMOD NM_003361.4(UMOD):c.77C>T (p.Thr26Ile)SNV Uncertain significance 884637 16:20361983-20361983 16:20350661-20350661
11 UMOD NM_003361.4(UMOD):c.-57C>TSNV Uncertain significance 884638 16:20362116-20362116 16:20350794-20350794
12 UMOD NM_003361.3(UMOD):c.1182+5G>TSNV Uncertain significance 318290 rs755374625 16:20357443-20357443 16:20346121-20346121
13 UMOD NM_003361.3(UMOD):c.1131G>C (p.Trp377Cys)SNV Uncertain significance 318292 rs201738891 16:20357499-20357499 16:20346177-20346177
14 UMOD NM_003361.3(UMOD):c.*59G>ASNV Uncertain significance 318281 rs886051783 16:20344577-20344577 16:20333255-20333255
15 UMOD NM_003361.3(UMOD):c.865+7C>GSNV Uncertain significance 318295 rs759063012 16:20359751-20359751 16:20348429-20348429
16 UMOD NM_003361.3(UMOD):c.*231A>GSNV Uncertain significance 318276 rs886051781 16:20344405-20344405 16:20333083-20333083
17 UMOD NM_003361.3(UMOD):c.*88G>ASNV Uncertain significance 318280 rs547514548 16:20344548-20344548 16:20333226-20333226
18 UMOD NM_003361.3(UMOD):c.1916T>C (p.Phe639Ser)SNV Likely benign 318282 rs145165861 16:20344643-20344643 16:20333321-20333321
19 UMOD NM_003361.4(UMOD):c.1383G>A (p.Ala461=)SNV Likely benign 887718 16:20352607-20352607 16:20341285-20341285
20 UMOD NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp)SNV Likely benign 884578 16:20357507-20357507 16:20346185-20346185
21 UMOD NM_003361.3(UMOD):c.1124G>A (p.Arg375Gln)SNV Benign 775371 16:20357506-20357506 16:20346184-20346184
22 UMOD NM_003361.3(UMOD):c.1376G>A (p.Arg459Gln)SNV Benign 762486 16:20352614-20352614 16:20341292-20341292
23 UMOD NM_003361.4(UMOD):c.1288G>A (p.Asp430Asn)SNV Benign 884576 16:20355389-20355389 16:20344067-20344067
24 UMOD NC_000016.10:g.20352745C>TSNV Benign 885577 16:20364067-20364067 16:20352745-20352745
25 UMOD NM_003361.4(UMOD):c.973+7C>TSNV Benign 885510 16:20359538-20359538 16:20348216-20348216
26 UMOD NM_003361.3(UMOD):c.538C>G (p.Leu180Val)SNV Benign 196363 rs187555378 16:20360085-20360085 16:20348763-20348763
27 UMOD NM_003361.3(UMOD):c.184A>C (p.Thr62Pro)SNV Benign 318297 rs143248111 16:20360439-20360439 16:20349117-20349117
28 UMOD NM_003361.4(UMOD):c.392G>A (p.Gly131Asp)SNV Benign 887785 16:20360231-20360231 16:20348909-20348909
29 UMOD NM_003361.3(UMOD):c.*130C>TSNV Benign 318278 rs113468667 16:20344506-20344506 16:20333184-20333184
30 UMOD NM_003361.3(UMOD):c.1742C>A (p.Thr581Asn)SNV Benign 318284 rs143641292 16:20348048-20348048 16:20336726-20336726
31 UMOD NM_003361.3(UMOD):c.1623G>T (p.Gly541=)SNV Benign 318285 rs562726925 16:20348730-20348730 16:20337408-20337408
32 UMOD NM_003361.3(UMOD):c.1464C>T (p.Gly488=)SNV Benign 318287 rs141912637 16:20352526-20352526 16:20341204-20341204
33 UMOD NM_003361.3(UMOD):c.1177T>C (p.Leu393=)SNV Benign 318291 rs748849021 16:20357453-20357453 16:20346131-20346131
34 UMOD NM_003361.3(UMOD):c.974-15C>GSNV Benign 318294 rs201798915 16:20357671-20357671 16:20346349-20346349

Expression for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Search GEO for disease gene expression data for Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related.

Pathways for Autosomal Dominant Tubulointerstitial Kidney Disease,...

GO Terms for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Sources for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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