Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
FJHN and MCKD2 are allelic, result from uromodulin (UMOD) mutations and the term uromodulin-associated kidney disease (UAKD) has been proposed for them.
|
16164624 |
2005 |
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
|
12629136 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
|
12629136 |
2003 |
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 |
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 |
A mutation in UMOD gene was found in these 3 families as the cause of the FJHN.
|
17065110 |
2006 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
|
15673476 |
2005 |
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 |
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 |
UNIPROT |
Defective intracellular trafficking of uromodulin mutant isoforms.
|
17010121 |
2006 |
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 |
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 |
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 |