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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
UNIPROT |
Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease.
|
14569098 |
2003 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Six unrelated Japanese families with FJHN were examined for mutations of the UMOD gene by direct sequencing.
|
15086896 |
2004 |
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 |
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 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We performed linkage analysis and sequencing of the entire codifying region of the UMOD gene in 4 Spanish families with MCKD/FJHN/GCKD.
|
15983957 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
MGD |
Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice.
|
15522986 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We performed linkage analysis and sequencing of the entire codifying region of the UMOD gene in 4 Spanish families with MCKD/FJHN/GCKD.
|
15983957 |
2005 |