MCID: ATS312
MIFTS: 16

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Categories: Genetic diseases, Nephrological 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
Umod-Associated Kidney Disease 24 29
Familial Juvenile Hyperuricemic Nephropathy 1 24
Medullary Cystic Kidney Disease Type 2 72
Medullary Cystic Kidney Disease 2 24
Uromodulin Kidney Disease 24
Familial Juvenile Gout 72
Adtkd-Umod 24

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 72 C0268113 C1859040

Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease,...

MalaCards based summary : Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related, also known as umod-associated kidney disease, is related to autosomal dominant tubulointerstitial kidney disease due to umod mutations and hyperuricemic nephropathy, familial juvenile, 1. An important gene associated with Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related is UMOD (Uromodulin). Affiliated tissues include kidney.

GeneReviews: NBK1356

Related Diseases for 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 13)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease due to umod mutations 12.1
2 hyperuricemic nephropathy, familial juvenile, 1 10.4
3 medullary cystic kidney disease 2 10.4
4 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.4
5 nephronophthisis 10.4
6 gout 10.4
7 hyperuricemia 10.4
8 cystic kidney disease 10.4
9 kidney disease 10.4
10 end stage renal failure 10.4
11 autosomal dominant tubulointerstitial kidney disease 10.4
12 interstitial nephritis 10.2
13 renal hypertension 10.2

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:

41
Kidney

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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

(show all 48)
# Title Authors PMID Year
1
Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. 38 4
22034507 2011
2
Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. 38 4
15327389 2004
3
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 4
25738250 2015
4
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. 4
23396133 2013
5
Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity. 4
23840514 2013
6
Nephronophthisis. 4
20652329 2011
7
Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. 4
21081491 2011
8
Hereditary interstitial kidney disease. 4
20807609 2010
9
Childhood course of renal insufficiency in a family with a uromodulin gene mutation. 4
20151160 2010
10
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 4
19664745 2009
11
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. 4
19465746 2009
12
Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. 4
16395272 2006
13
Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation. 4
17065110 2006
14
Analysis of excretion fraction of uric acid. 4
17065111 2006
15
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. 4
15983957 2005
16
Clinico-pathologic findings in medullary cystic kidney disease type 2. 4
15844001 2005
17
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 4
15086896 2004
18
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 4
14570709 2003
19
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. 4
14569098 2003
20
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. 4
14531790 2003
21
Familial juvenile hyperuricaemic nephropathy. 4
14566042 2003
22
Tamm-Horsfall glycoprotein: biology and clinical relevance. 4
14520616 2003
23
Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. 4
12787393 2003
24
Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 4
12651868 2003
25
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. 4
12629136 2003
26
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 4
12471200 2002
27
Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. 4
12205338 2002
28
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? 4
11675411 2001
29
Autosomal-dominant chronic interstitial nephritis with early hyperuricemia. 4
11068651 2000
30
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. 4
9686952 1998
31
Protein binding versus protein folding: the role of hydrophilic bridges in protein associations. 4
8995525 1997
32
Abnormal serum uric acid levels in children. 4
8648529 1996
33
Gout, uric acid and purine metabolism in paediatric nephrology. 4
8439471 1993
34
Hereditary nephropathy associated with hyperuricemia and gout. 4
8427538 1993
35
The nephronophthisis complex: clinical and genetic aspects. 4
1450635 1992
36
Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. 4
1873940 1991
37
Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? 4
2702088 1989
38
Familial urate nephropathy. 4
7296976 1981
39
Familial gout and renal failure in young women. 4
7428192 1980
40
Plasma uric acid levels in children. 4
5356987 1969
41
THE DISTRIBUTION OF SERUM URIC ACID VALUES IN A POPULATION UNSELECTED AS TO GOUT OR HYPERURICEMIA: TECUMSEH, MICHIGAN 1959-1960. 4
14320691 1965
42
From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis. 38
26872483 2016
43
Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find. 38
26810206 2016
44
Single-nucleotide polymorphism of the UMOD promoter is associated with the outcome of chronic kidney disease patients. 38
26171171 2015
45
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
46
Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis. 38
23466996 2013
47
A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy. 38
23826568 2013
48
Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related 38
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.

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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