UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis. 28990932 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE These studies quantitatively show that the autosomal-dominant gene mutations responsible for UMOD-associated kidney disease cause a profound reduction of THP excretion. 15327389 2004
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations. 28785050 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group LHGDN Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. 16164624 2005
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE Mutations in nephrin (NPHS1), podocin (NPHS2), laminin β2 (LAMB2), and α-actinin-4 (ACTN4) have been shown to induce ER stress in HEK293 cells and podocytes in hereditary nephrotic syndromes; various founder mutations in collagen IV α chains (COL4A) have been demonstrated to activate podocyte ER stress in collagen IV nephropathies; and mutations in uromodulin (UMOD) have been reported to trigger tubular ER stress in autosomal dominant tubulointerstitial kidney disease. 30099615 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE Uromodulin-associated kidney disease (UAKD) is a dominant heritable renal disease in humans which is caused by mutations in the uromodulin (UMOD) gene and characterized by heterogeneous clinical appearance. 23748428 2013
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause. 29513881 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE Mutations in uromodulin are responsible for autosomal-dominant kidney diseases characterized by defective urine concentrating ability, hyperuricemia, gout, tubulointerstitial fibrosis, renal cysts, and chronic kidney disease. 22237754 2012
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group LHGDN These studies quantitatively show that the autosomal-dominant gene mutations responsible for UMOD-associated kidney disease cause a profound reduction of THP excretion. 15327389 2004
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE In addition, approximately two-thirds of the known mutations lead to a cysteine amino acid change in uromodulin, and all such variants have been shown to cause UMOD-associated kidney disease. 23826568 2013
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE These results suggest that the UMOD variant may influence the adaptation of the kidney to age-related risk factors of kidney disease such as hypertension and diabetes. 20686651 2010
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE UMOD encodes the most common protein in human urine, Tamm-Horsfall protein, and rare mutations in UMOD cause mendelian forms of kidney disease. 19430482 2009
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 GeneticVariation group BEFREE A total of 646 individuals, 208 with T2DM without evidence of kidney disease (DM), 221 with DN and 217 healthy controls (HC) were genotyped for UMOD variant rs4293393T>C by restriction fragment length polymorphism. 29578190 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE We postulate that mutation of UMOD disrupts the tertiary structure of UMOD and is responsible for the clinical changes of interstitial renal disease, polyuria, and hyperuricaemia found in MCKD2 and FJHN. 12471200 2002
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE Uromodulin: from physiology to rare and complex kidney disorders. 28781372 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group MGD
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE Development of next generation sequencing panel for UMOD and association with kidney disease. 28609449 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE We conclude that UMOD is unlikely to play a role in IgA nephropathy pathogenesis nor progression to end stage renal failure, and suggest that UMOD effects are restricted to some causes of renal disease, e.g. diabetes or hypertension. 25163389 2014
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE In patients suffering from chronic tubulointerstitial nephropathy, hyperuricemia, and a low fractional excretion of uric acid mutation, analysis of the UMOD gene should be performed to diagnose UMOD-associated kidney disease. 26810206 2016
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE Genetic studies of urate transportation and of uromodulin-related nephropathy emphasize the pivotal importance of the proximal tubule in uric acid homeostasis. 22157498 2012
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE In contrast to weak and in part contradictory study data on uromodulin in urine samples, the analysis of serum samples recently proved uromodulin's value as superior biomarker for ongoing kidney disease. 28089453 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE Diagnosis and Long-term Management of Uromodulin Kidney Disease. 31157132 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE UMOD-associated kidney disease has been proposed as a logical diagnostic label to replace FJHN, but given all these other mutations, an over-arching diagnostic term of 'autosomal dominant tubulointerstitial kidney disease' (ADTKD) has been recently adopted. 26872483 2016
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.700 Biomarker group BEFREE Considering MCKD2 to be a distinct molecular entity, the analysis suggests that as many as three kidney disease genes may be located in close proximity on 16p11.2. 12634862 2003