Nephronophthisis
|
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 |
Nephronophthisis
|
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 |
Nephronophthisis
|
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 |
Nephronophthisis
|
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 |
Nephronophthisis
|
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 |
Nephronophthisis
|
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 |
Nephronophthisis
|
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 |
Nephronophthisis
|
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 |
Nephronophthisis
|
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 |
Nephronophthisis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The family with ADMCKD2 fulfills the typical diagnostic criteria of ADMCKD, complicated by hyperuricemia and gouty arthritis.
|
10330352 |
1999 |
Nephronophthisis
|
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 |
Nephronophthisis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There is extensive gene locus heterogeneity with at least three different loci for nephronophthisis (NPHP1, NPHP2, and NPHP3) and two different loci for MCKD (MCKD1 and MCKD2).
|
11261687 |
2001 |
Nephronophthisis
|
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 |