|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Anti-CCP antibodies and rheumatoid factor levels were determined by ELISA in sera from 87 patients with HHC homozygous for the C282Y mutation of the HFE gene, 31 patients with rheumatoid arthritis and 162 healthy controls.
|
17456529 |
2007 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
C282Y heterozygotes have slightly increased iron stores and in absence of other genetic and/or environmental factors do usually not develop the HHC phenotype.
|
12324192 |
2002 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Statistically significant negative correlations were found, in males, between lymphocyte counts and the total body iron stores, either in C282Y homozygous HHC patients (p = 0.031 in a multiple regression model dependent on age) and in C282Y heterozygotes or C282Y/H63D compound heterozygotes with iron overload (p = 0.029 in a simple linear model).
|
11722599 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two of the 37 allelic variants of HFE described to date (C282Y and H63D) are significantly correlated with HHC.
|
11479183 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Of patients undergoing OLT with iron stores in the range typical for HHC, approximately 10% are homozygous for the C282Y mutation.
|
11510009 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two mutations have been implicated in HHC: C282Y and H63D.
|
11224684 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
One hundred twenty-three asymptomatic HHC patients were evaluated; all had quantitative phlebotomy to determine mob Fe and genotyping for C282Y and H63D mutations.
|
11090050 |
2000 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
In populations of northern European origin the C282Y substitution accounts for more than 90% of cases of HHC.
|
10942923 |
2000 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two missense mutations have been identified in patients with HHC, a G to A at nucleotide 845, resulting in a substitution of tyrosine for cysteine at amino acid 282 (referred to as the C282Y mutation) and a C to G at nucleotide 187, resulting in a substitution of aspartate for histidine at amino acid 63 (H63D).
|
10728794 |
2000 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
The majority of HHC patients are homozygous for a cysteine-to-tyrosine substitution (C282Y); however, a small number are homozygous for a histidine-to-aspartic-acid substitution (H63D) or are heterozygous for both of these mutations.
|
10073265 |
1999 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Several US and European studies have found that 60% to 93% of patients with suspected HHC are homozygous for C282Y.
|
10488796 |
1999 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
He was also found to be heterozygous for the cys282tyr mutation of the HFE gene, which is the chief cause of HLA-linked hereditary hemochromatosis (HHC).
|
9732941 |
1998 |