FJHN
MCID: ATS312
MIFTS: 22

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
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 28)
# 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 10.7
7 interstitial nephritis 10.5
8 end stage renal failure 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 obsolete: familial juvenile hyperuricemic nephropathy type 1 10.4
19 nephrolithiasis, calcium oxalate 10.2
20 medullary cystic kidney disease 1 10.2
21 hyperuricemic nephropathy, familial juvenile, 3 10.2
22 renal hypertension 10.2
23 autosomal dominant tubulointerstitial kidney disease, muc1-related 10.2
24 hnf1b-related autosomal dominant tubulointerstitial kidney disease 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, 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. 24 52
25738250 2015
2
Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. 61 24
22034507 2011
3
Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. 61 24
15327389 2004
4
Uromodulin: from physiology to rare and complex kidney disorders. 52
28781372 2017
5
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. 24
23396133 2013
6
Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity. 24
23840514 2013
7
Nephronophthisis. 24
20652329 2011
8
Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. 24
21081491 2011
9
Hereditary interstitial kidney disease. 24
20807609 2010
10
Childhood course of renal insufficiency in a family with a uromodulin gene mutation. 24
20151160 2010
11
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 24
19664745 2009
12
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. 24
19465746 2009
13
Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. 24
16395272 2006
14
Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation. 24
17065110 2006
15
Analysis of excretion fraction of uric acid. 24
17065111 2006
16
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
17
Clinico-pathologic findings in medullary cystic kidney disease type 2. 24
15844001 2005
18
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 24
15086896 2004
19
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 24
14570709 2003
20
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. 24
14569098 2003
21
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. 24
14531790 2003
22
Familial juvenile hyperuricaemic nephropathy. 24
14566042 2003
23
Tamm-Horsfall glycoprotein: biology and clinical relevance. 24
14520616 2003
24
Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. 24
12787393 2003
25
Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 24
12651868 2003
26
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. 24
12629136 2003
27
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 24
12471200 2002
28
Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. 24
12205338 2002
29
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? 24
11675411 2001
30
Autosomal-dominant chronic interstitial nephritis with early hyperuricemia. 24
11068651 2000
31
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. 24
9686952 1998
32
Protein binding versus protein folding: the role of hydrophilic bridges in protein associations. 24
8995525 1997
33
Abnormal serum uric acid levels in children. 24
8648529 1996
34
Gout, uric acid and purine metabolism in paediatric nephrology. 24
8439471 1993
35
Hereditary nephropathy associated with hyperuricemia and gout. 24
8427538 1993
36
The nephronophthisis complex: clinical and genetic aspects. 24
1450635 1992
37
Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. 24
1873940 1991
38
Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? 24
2702088 1989
39
Familial urate nephropathy. 24
7296976 1981
40
Familial gout and renal failure in young women. 24
7428192 1980
41
Plasma uric acid levels in children. 24
5356987 1969
42
THE DISTRIBUTION OF SERUM URIC ACID VALUES IN A POPULATION UNSELECTED AS TO GOUT OR HYPERURICEMIA: TECUMSEH, MICHIGAN 1959-1960. 24
14320691 1965
43
From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis. 61
26872483 2016
44
Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find. 61
26810206 2016
45
Single-nucleotide polymorphism of the UMOD promoter is associated with the outcome of chronic kidney disease patients. 61
26171171 2015
46
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
47
Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis. 61
23466996 2013
48
A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy. 61
23826568 2013
49
Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related 61
20301530 2007

Variations for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Expression for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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

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

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