UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Disease: Medullary cystic disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 Biomarker 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: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific. 21868615 2011
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 Biomarker disease BEFREE Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, NPHP2 and NPHP3 for familial juvenile nephronophthisis (NPH) and MCKD1 and MCKD2 for the adult form of medullary cystic kidney disease. 12234310 2002
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE Uromodulin gene (UMOD) mutations have been linked to rare forms of mendelian dominant medullary cystic kidney disease and familial hyperuricemia. 26040415 2015
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 Biomarker disease BEFREE Recent studies in four kindreds showed linkage of a gene for FJHN to the same genomic interval on chromosome 16p11.2, where the gene for the phenotypically similar medullary cystic disease type 2 (MCKD2) has been localised. 12634862 2003
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE Uromodulin (UMOD), known to be involved in adult medullary cystic kidney disease, and nephronophthisis 1 (NPHP1) were investigated in the genomic DNA of the probands using DNA sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis and molecular karyotyping. 26037636 2016
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 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
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 Biomarker disease BEFREE The family with ADMCKD2 fulfills the typical diagnostic criteria of ADMCKD, complicated by hyperuricemia and gouty arthritis. 10330352 1999
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 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
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE Autosomal-dominant juvenile hyperuricemia, gouty arthritis, medullary cysts, and progressive renal insufficiency are features associated with familial juvenile hyperuricemic nephropathy (FJHN), medullary cystic kidney disease type 1 (MCKD1) and type 2 (MCKD2). 16164624 2005
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE One family carrying no mutation in the UMOD gene showed no linkage to the medullary cystic kidney disease type 1 (MCKD1) locus, the genes of hepatocyte nuclear factor-1beta (HNF-1beta), or urate transporters URAT1 and hUAT. 15086896 2004
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 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