Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE Despite the unique location and recent association of THP gene mutations with hereditary uromodulin-associated kidney disease and THP single nucleotide polymorphisms with chronic kidney disease and hypertension, the physiological function(s) of THP and its pathological involvement remain incompletely understood. 29357410 2018
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE Uromodulin-associated kidney disease (UAKD) is caused by mutations in the uromodulin (UMOD) gene that result in a misfolded form of UMOD protein, which is normally secreted by nephrons. 28990932 2017
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 Biomarker disease BEFREE A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. 27729211 2017
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 Biomarker disease BEFREE Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. 25738250 2015
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE We identified an FJHN patient who carried a novel UMOD mutation G335A (C112Y). 25239792 2015
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415 2015
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 Biomarker disease MGD Validation of uromodulin as a candidate gene for human essential hypertension. 24324041 2014
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 Biomarker disease BEFREE The three overlapping clinical uromodulin-associated kidney diseases (UAKD) are medullary cystic disease type 2, familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease. 23880785 2014
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 Biomarker disease BEFREE Umod mutant mice exhibit increased plasma urea and Cystatin levels, impaired urinary concentration ability, reduced fractional excretion of uric acid and nephropathological alterations including uromodulin retention in TALH cells, interstitial fibrosis and inflammatory cell infiltrations, tubular atrophy and occasional glomerulo- und tubulocystic changes, a phenotype highly similar to UAKD in humans. 23748428 2013
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE Our results suggested that the novel uromodulin mutations found in the Chinese families lead to misfolded protein, which was retained in the endoplasmic reticulum, finally contributed to the phenotype of FJHN. 23988501 2013
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease UNIPROT Our results suggested that the novel uromodulin mutations found in the Chinese families lead to misfolded protein, which was retained in the endoplasmic reticulum, finally contributed to the phenotype of FJHN. 23988501 2013
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE The UMOD genotype is related to the clinical phenotype of UAKD. 23723338 2013
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease UNIPROT Mostly, FJHN is caused by a mutation altering the cystine residue of UMOD/Tamm-Horsfall protein. 23197950 2012
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease UNIPROT A novel mutation (p.T605G) within the uromodulin GPI anchor signal segment was identified in the affected individuals of this FJHN family. 22776760 2012
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE Familial juvenile hyperuricemic nephropathy (FJHN) is one of three similar clinical disorders associated with uromodulin gene mutations. 22157498 2012
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE A novel mutation (p.T605G) within the uromodulin GPI anchor signal segment was identified in the affected individuals of this FJHN family. 22776760 2012
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE Our observations support the hypothesis that ER accumulation of mutant uromodulin may cause ER stress, providing a potential mechanism for the progression of UMOD-related kidney disease. 21978600 2012
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE FJHN is genetically heterogeneous and due to mutations of three genes: uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1beta (HNF-1β) on chromosomes 16p12, 1q32.1, and 17q12, respectively. 20976470 2011
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific. 21868615 2011
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. 21060763 2010
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease UNIPROT A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. 21060763 2010
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE Mutations in the UMOD gene cause uromodulin storage disease. 20948228 2010
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 Biomarker disease BEFREE The uromodulin excretion pattern observed in the investigated family suggests that urinary uromodulin decreases in FJHN from low normal values at childhood to extremely low levels in early adulthood. 19203555 2009
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 GeneticVariation disease BEFREE Uromodulin (UMOD) mutations were described in patients with medullary cystic kidney disease (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD). 18846391 2009
Hyperuricemic Nephropathy, Familial Juvenile 1
1.000 Biomarker disease BEFREE Elucidation of the mechanisms of hyperuricemia in patients with familial juvenile hyperuricemic nephropathy will shed light on the function of uromodulin, functional impairment of which eventually results in diminished uric acid excretion. 18349750 2008