Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Familial isolated hyperparathyroidism (FIHP) is a rare heritable disorder characterized by hypercalcemia, inappropriately high PTH levels, and isolated parathyroid tumors with no evidence of hyperfunction of any other endocrine tissues.
|
7903311 |
1993 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we found that the hyperparathyroidism traits in a subset of FIHP families are linked to the 1q21-32 markers in the HRPT2 region.
|
9626148 |
1998 |
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Familial isolated hyperparathyroidism (FIHP) is a hereditary disorder characterised by uni- or multiglandular parathyroid disease.
|
12213668 |
2002 |
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Familial isolated hyperparathyroidism (FIHP) is an autosomal dominant disorder characterized by uniglandular or multiglandular parathyroid tumours that occur in the absence of other endocrine tumours.
|
12699448 |
2003 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.
|
15531515 |
2004 |
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
We report results of MEN1, CASR, and HRPT2 genotyping of 22 unrelated subjects with FIHP phenotypes.
|
14985373 |
2004 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We investigated 32 families with FIHP to determine the frequency of occult mutation in HRPT2, the gene causing HPT-JT.
|
14715834 |
2004 |
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our results also confirm the need for testing HRPT2 gene in FIHP families.
|
15531515 |
2004 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Transient overexpression of wild-type parafibromin, but not its Leu64Pro missense mutant implicated in parathyroid cancer and familial isolated hyperparathyroidism, inhibited cell proliferation, and blocked expression of cyclin D1, a key cell cycle regulator previously implicated in parathyroid neoplasia.
|
15580289 |
2005 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report on the utilisation of a non-consensus (non-canonical) donor splice site within exon 1 of the HRPT2 gene in familial isolated primary hyperparathyroidism (FIHP).
|
16061557 |
2005 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation.
|
16995822 |
2006 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.
|
16720667 |
2006 |
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Familial isolated hyperparathyroidism (FIHP) is an autosomal dominantly inherited form of primary hyperparathyroidism.
|
16525030 |
2006 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The finding that two families diagnosed with FIHP carried HRPT2 mutations suggests that they have occult HPT-JT.
|
16817812 |
2006 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The HPT-JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31.2.
|
16487440 |
2006 |
Familial Isolated Hyperparathyroidism
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
This study aimed to evaluate the extent of parathyroid involvement and parafibromin expression in FIHPT.
|
18063086 |
2007 |
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Parafibromin is a tumor suppressor protein encoded by HRPT2, a gene recently implicated in the hereditary hyperparathyroidism-jaw tumor syndrome, parathyroid cancer, and a subset of kindreds with familial isolated hyperparathyroidism.
|
17314275 |
2007 |
Familial Isolated Hyperparathyroidism
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Our objective was to study the gene mutation, expression of HRPT2 and the clinical outcome after 32 years of follow-up in one Brazilian kindred with familial isolated hyperparathyroidism (FIHP).
|
19169472 |
2008 |
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Parafibromin is a tumor suppressor protein encoded by HRPT2, a gene recently implicated in the hereditary hyperparathyroidism-jaw tumor syndrome, parathyroid cancer, and a subset of kindreds with familial isolated hyperparathyroidism.
|
18987311 |
2008 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A subset of patients carry germline mutations in genes such as MEN1 (multiple endocrine neoplasia type 1), HRPT2 (hyperparathyroidism 2), and CASR (calcium-sensing receptor) predisposing to syndromic forms of PHPT or familial isolated hyperparathyroidism (FIHP).
|
19474519 |
2009 |
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Germ-line mutations usually result in MEN1 or occasionally in an allelic variant referred to as Familial Isolated Hyperparathyroidism (FIHP).
|
20833329 |
2010 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Inactivating germline mutations of the tumor suppressor gene CDC73 account for 14 and 50% of all FIHP and HPT-JT patients, respectively, and have also been found in almost 20% of apparently sporadic parathyroid carcinoma patients.
|
21837707 |
2011 |
Familial Isolated Hyperparathyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
MEN1 and HRPT2/CDC73 genes mutations have also been found in a subset of FIHP families.
|
21985978 |
2011 |
Familial Isolated Hyperparathyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
This finding emphasizes that qPCR should be implemented in HRPT2 molecular analysis, which may improve genetic assessment and clinical management of patients with FIHP and HPT-JT.
|
21790700 |
2012 |