HPT, hypoparathyroidism, 3258

N. diseases: 71; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Differences in absolute levels of PTH and tumour weight suggest that renal HPT may be a confounding factor. 29497805 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE MEN1 is caused by abnormalities of the MEN1 gene which encodes a tumour suppressor; MEN2 and MEN3 are due to mutations of the rearranged during transfection (RET) proto-oncogene, which encodes a tyrosine kinase receptor; MEN4 is due to mutations of a cyclin-dependent kinase inhibitor (CDNK1B); and HPT-JT is due to mutations of cell division cycle 73 (CDC73), which encodes parafibromin. 27306766 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The risk of parathyroid carcinoma is elevated in patients with HPT-JT, necessitating rapid treatment and complete tumor resection to reduce the morbidity and mortality associated with intractable hypercalcemia due to local recurrence or metastatic disease. 22302605 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Heterozygous germline CDC73 mutations are detected in the majority of patients with HPT-JT, and the demonstration of loss of heterozygosity (LOH) at the CDC73 locus in tumors from affected individuals is consistent with a tumor suppressor role. 20052758 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE It is characterized by familial HPT, ossifying jaw tumors, and other associated neoplasms. 19529956 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE HPT-JT and FIHP patients had similar laboratory, clinical, and demographic features and shared primary HPT and other neoplasms, the most common of which was uterine polyposis. 18755853 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE "Two-hits" (double mutations or one mutation and loss of heterozygosity at 1q24-32) affecting HRPT2 were found in two sporadic carcinomas, two HPT-JT-related and two FIHP related tumours. 12960210 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors. 12434154 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Clonal analysis has shown that in renal hyperparathyroidism (2-HPT), parathyroid glands initially grow diffusely and polyclonally after which the foci of nodular hyperplasia are transformed to monoclonal neoplasia. 10048455 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Whether it is a separate entity or a variant of multiple endocrine neoplasia type 1 (MEN1 at 11q13) or hyperparathyroidism-jaw tumor (HPT-JT or HRPT2 at 1q21-32) syndrome is not known. 9626148 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Thus, we studied 29 patients with FBH from 11 families, 29 age- and sex-matched controls, and 42 patients with primary hyperparathyroidism (1 degree HPT), measuring PTH with a highly sensitive two-site immunochemiluminometric assay and the hypercalcemic tumor factor PTH-related peptide (PTHrP) with an extraction/concentration RIA. 1997510 1991
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.090 Biomarker phenotype BEFREE Hypoparathyroidism can cause hypocalcemia and hyperphosphatemia, whereas deficient vitamin D actions can cause osteomalacia in adults and rickets in children. 28939209 2019
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.090 Biomarker phenotype BEFREE Hypoparathyroidism is a rare endocrine disorder where deficiency (or lack of effect) of parathyroid hormone results in disordered mineral metabolism leading to hypocalcemia and hyperphosphatemia. 30261328 2019
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.090 Biomarker phenotype BEFREE Hypoparathyroidism is a rare endocrine disorder characterized by low or insufficient parathyroid hormone (PTH) concentrations leading to hypocalcemia, hyperphosphatemia, and markedly reduced bone turnover. 31107289 2019
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.090 Biomarker phenotype BEFREE Children are at a High Risk of Hypocalcaemia and Hypoparathyroidism after Total Thyroidectomy. 31383578 2019
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.090 Biomarker disease BEFREE HPT-JT is characterized by PHPT, ossifying fibromas of maxillary bones, kidney disease, and uterine neoplasias. 30641519 2019
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.090 Biomarker disease BEFREE Rates of persistence/recurrence did not significantly differ due to type of surgery (bilateral/unilateral) or type of HPT (spHPT/LIHPT/MEN). 31412376 2019
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.090 Biomarker phenotype BEFREE Hypoparathyroidism is a rare disease characterized by hypocalcemia, hyperphosphatemia and a low or inappropriately normal serum parathyroid hormone level (PTH). 30540559 2018
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.090 Biomarker phenotype BEFREE Hypoparathyroidism is characterised by hypocalcaemia, and standard management is with an active vitamin D analogue and adequate oral calcium intake (dietary and/or supplements). 28993435 2017
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.090 Biomarker disease BEFREE HPT-JT is a rare condition characterized by PHPT and benign tumors of the mandible and maxilla. 23757631 2014
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.090 Biomarker phenotype BEFREE Hypoparathyroidism and/or hypocalcemia are not clear etiological factors for enamel disturbances and there were no major correlations between medical conditions and enamel disturbances. 22070626 2012
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.090 AlteredExpression phenotype BEFREE Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. 20119591 2010
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.090 Biomarker disease BEFREE The pathogenesis of primary hyperparathyroidism (I degrees -HPT) and secondary hyperparathyroidism (II degrees -HPT) remains to be elucidated. 19194773 2009
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.090 Biomarker disease BEFREE beta-Catenin was accumulated in all analyzed parathyroid tumors (n = 47) from patients with pHPT and from patients with HPT secondary to uremia. 17047023 2007
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.090 GeneticVariation disease BEFREE Furthermore, a limited study of 28 primary hyperparathyroidism (pHPT) patients displayed a tendency of NciI influence on HPT development. 11902820 2001