UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease CLINVAR
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 Biomarker disease CTD_human
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 CausalMutation disease CLINVAR
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease BEFREE In a large Belgian family with FJHN, a tight linkage between the disorder and the marker D16S3060, located within the MCKD2 locus on chromosome 16p12 (maximal two-point logarithmic odds score of 3.74 at a recombination fraction of theta = 0), was observed in this study. 11675411 2001
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease UNIPROT Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 12471200 2002
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease UNIPROT UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. 12629136 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease BEFREE UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. 12629136 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 Biomarker disease BEFREE The ultimate proof of the allelism between MCKD2 and FJHN will be provided by the identification of the responsible gene(s). 12832729 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease BEFREE The clinical characteristics were similar to those of other patients suffering from uromodulin mutations and to those of patients suffering from medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy. 12900848 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease UNIPROT The clinical characteristics were similar to those of other patients suffering from uromodulin mutations and to those of patients suffering from medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy. 12900848 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 Biomarker disease BEFREE In contrast, recently, another group described mutations in the UMOD gene as responsible for MCKD2 and familial juvenile hyperuricemic nephropathy (FJHN). 14531790 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 Biomarker disease BEFREE Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. 14569098 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. 14569098 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease UNIPROT Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. 14569098 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease UNIPROT The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure. 14570709 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease BEFREE The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure. 14570709 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease BEFREE A mutation in the uromodulin gene (16p11-13) has recently been linked to medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy. 15073494 2004
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease BEFREE Recent reports on the discovery of mutations of the uromodulin (UMOD) gene in families with FJHN encouraged us to screen UMOD mutations in Japanese families with FJHN, including family 1. 15086896 2004
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease UNIPROT Six unrelated Japanese families with FJHN were examined for mutations of the UMOD gene by direct sequencing. 15086896 2004
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 Biomarker disease BEFREE Mutations of the UMOD gene, disrupting the tertiary structure of uromodulin, cause MCKD2 and FJHN. 15253706 2004
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 Biomarker disease MGD Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice. 15522986 2005
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease UNIPROT Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003 2004
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease BEFREE A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. 15673476 2005
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		1.000 GeneticVariation disease BEFREE Medullary cystic kidney disease type 2 (also known as uromodulin-associated kidney disease) likely represents a form of endoplasmic reticulum storage disease, with deposition of the abnormal uromodulin protein in the endoplasmic reticulum, leading to tubular cell atrophy and death. 15844001 2005