Medullary Cystic Kidney Disease Type 2
|
0.790 |
Biomarker
|
disease |
BEFREE |
Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease.
|
14569098 |
2003 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the genetic basis of familial juvenile hyperuricemic nephropathy (FJHN), glomerulocystic kidney disease (GCKD) and autosomal dominant medullary cystic kidney disease 2 (MCKD2) has been recently attributed to mutations within the THP gene.
|
15989109 |
2005 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
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 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
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 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the uromodulin gene (<i>UMOD</i>) resulting in malfunctioning of UMOD are known to be the cause of ADTKD-UMOD, which is assumed to be an endoplasmatic reticulum (ER) storage disease.
|
30976393 |
2019 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the UMOD gene, encoding uromodulin, have been associated with medullary cystic kidney disease 2, familial juvenile hyperuricemic nephropathy, and glomerulocystic kidney disease.
|
18950917 |
2009 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
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 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
Biomarker
|
disease |
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 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
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 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Medullary Cystic Kidney Disease Type 2
|
0.790 |
Biomarker
|
disease |
CTD_human |
|
|
|
Medullary Cystic Kidney Disease Type 2
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
In the kindreds showing linkage to the MCKD2 locus on chromosome 16p12, mutational analysis of the UMOD gene was performed by exon polymerase chain reaction (PCR) and direct sequencing.
|
14531790 |
2003 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
|
14570709 |
2003 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Defective intracellular trafficking of uromodulin mutant isoforms.
|
17010121 |
2006 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Pathogenic uromodulin mutations result in premature intracellular polymerization.
|
25436415 |
2015 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Medullary Cystic Kidney Disease Type 2
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Autosomal dominant medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and autosomal dominant glomerulocystic kidney disease (GCKD) constitute a hereditary renal disease group that may lead to end-stage renal failure caused by mutations of the UMOD gene and its product, uromodulin or Tamm-Horsfall protein.
|
15983957 |
2005 |
Medullary Cystic Kidney Disease Type 2
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease.
|
14569098 |
2003 |