Hyperparathyroidism 2

Also Known As:

Familial Cystic Parathyroid Adenomatosis; Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas; Hereditary Hyperparathyroidism-Jaw Tumor Syndrome; Hpt-Jt; Hyperparathyroidism, Familial Primary, with Multiple Ossifying Jaw Fibromas; Hyperparathyroidism-Jaw Tumor Syndrome; Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary

Networked: 74 relevant articles (3 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypercalcemia (Milk Alkali Syndrome)
2.	Nocturia
3.	Nephrolithiasis
4.	Muscle Weakness
5.	Weight Loss (Weight Reduction)

Experts

1.	Simonds, William F: 8 articles (01/2019 - 01/2004)
2.	Thakker, Rajesh V: 5 articles (11/2020 - 04/2004)
3.	Iacobone, Maurizio: 5 articles (09/2020 - 12/2015)
4.	Thakker, R V: 5 articles (01/2017 - 01/2005)
5.	Bradley, K J: 4 articles (01/2017 - 01/2005)
6.	Teh, B T: 4 articles (01/2017 - 09/2003)
7.	Takano, Yasuo: 4 articles (01/2013 - 02/2008)
8.	Zhang, Jian-Hua: 4 articles (06/2010 - 02/2005)
9.	Torresan, Francesca: 3 articles (01/2020 - 06/2017)
10.	Bowl, M R: 3 articles (01/2017 - 03/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hyperparathyroidism 2:

1.	CalciumIBA 09/01/2011 - "Serum Calcium was highest in the HPT-JT group (3.6 mM), recurrencies of HPT were highest in the MEN1 group (40.5%). " 07/29/2007 - "He showed no symptoms of the hyperparathyroidism-jaw tumor syndrome; serum calcium and PTH were normal. " 09/01/2023 - "Cases of PHPT in MEN2A syndrome presented with lower serum PTH (sPTH) and serum calcium (sCa) levels at diagnosis (sPTH = 108.0 (IQR 53.3) pg/mL, sCa = 10.6 ± 1.1 mg/dL) than MEN1 (sPTH = 196.9 (IQR 210.5) pg/mL, sCa = 11.7 ± 1.2 mg/dL) (p = 0.01, p = 0.03, respectively) or HPT-JT cases (sPTH = 383.5 (IQR 775.8) pg/mL, sCa = 12.9 ± 1.8 mg/dL) (p = 0.01; p < 0.001, respectively). " 11/23/2022 - "Patients with Bartter syndrome type I and II had the highest median PTH level (7.5 pmol/L) and 56% had hyperparathyroidism (PTH >7.0 pmol/L). Serum calcium was slightly lower in Bartter syndrome type I and II patients with hyperparathyroidism (2.42 versus 2.49 mmol/L; P = .038) compared to those with normal PTH levels and correlated inversely with PTH (rs -0.253; P = .009). " 01/01/1993 - "In conclusion, in the azotaemic rat (1) aluminium did not slow the development nor decrease the magnitude of hyperparathyroidism; (2) aluminium appeared to alter the relationship between serum PTH and calcium, and between serum calcium and phosphorus; (3) hyperparathyroidism changed the expression of aluminium-induced bone disease and may afford the bone some protection against the toxic effects of aluminium."
2.	Aromatase InhibitorsIBA 12/01/2012 - "Aromatase inhibitors may represent a novel treatment for benign uterine pathology in HPT-JT." 12/01/2012 - "Aromatase inhibitor treatment of menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome."
3.	Phosphorus (Red Phosphorus)IBA 01/01/1993 - "In conclusion, in the azotaemic rat (1) aluminium did not slow the development nor decrease the magnitude of hyperparathyroidism; (2) aluminium appeared to alter the relationship between serum PTH and calcium, and between serum calcium and phosphorus; (3) hyperparathyroidism changed the expression of aluminium-induced bone disease and may afford the bone some protection against the toxic effects of aluminium."
4.	AluminumIBA 01/01/1993 - "In conclusion, in the azotaemic rat (1) aluminium did not slow the development nor decrease the magnitude of hyperparathyroidism; (2) aluminium appeared to alter the relationship between serum PTH and calcium, and between serum calcium and phosphorus; (3) hyperparathyroidism changed the expression of aluminium-induced bone disease and may afford the bone some protection against the toxic effects of aluminium."
5.	Proteins (Proteins, Gene)FDA Link 06/07/2022 - "We conclude that USP37 is a DUB for CDC73 and that the two proteins interact through specific domains, suggesting that USP37 is responsible for the stability of CDC73 in HPT-JT syndrome." 06/01/2016 - "It has an autosomal dominant pattern of inheritance, and is associated with mutations that deactivate the cell division cycle protein 73 homolog (CDC73) gene, also known as hyperparathyroidism 2 (HRPT2), located on the long arm of chromosome 1, that encodes for the tumour suppressor protein parafibromin. " 08/01/2010 - "Analysis of aberrantly spliced HRPT2 transcripts and the resulting proteins in HPT-JT syndrome." 01/01/2010 - "In 2003, the Hyperparathyroidism 2 (HRPT2) gene was found mutated in the majority of sporadic parathyroid carcinomas investigated, and studies regarding the protein product parafibromin proposed loss of nuclear parafibromin as a highly sensitive marker for the detection of parathyroid carcinoma. " 10/22/2022 - "Jaw tumors are mainly diagnosed in jaw tumors syndrome (HPT-JT syndrome) and are caused by mutation in the CDC73 gene, encoding parafibromin, a tumor suppressing protein. "
6.	Calcium-Sensing ReceptorsIBA 01/01/2010 - "Patients 3 and 4 and their relatives did not have MEN1 mutations, but instead had familial hypocalciuric hypercalcaemia (FHH) due to a calcium-sensing receptor mutation (p.Arg680Cys), and the hyperparathyroidism-jaw tumour (HPT-JT) syndrome due to a hyperparathyroidism type 2 deletional-frameshift mutation (c.1239delA), respectively. " 01/01/2004 - "All families had negative clinical testing for MEN1, hypocalciuric hypercalcemia, and HPT-JT and negative mutational screening of MEN1 and CASR, the gene for the calcium-sensing receptor. " 07/01/2013 - "Characterized by early debut and higher frequency of multiple parathyroid masses, familial forms of primary hyperparathyroidism are caused by the already known mutations of: menin (MEN1 syndrome), RET proto-oncogene (MEN2 syndrome), HRPT2-parafibromin (hyperparathyroidism-jaw tumor syndrome), calcium sensing receptor gene (familial hypocalciuric hypercalcemia). " 06/01/2009 - "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). " 11/01/2020 - "MEN1 is caused by germline MEN1 mutations in > 75% of patients, and the remaining 25% of patients may have mutations in unidentified genes or represent phenocopies with mutations in genes such as cell cycle division 73 (CDC73), the calcium sensing receptor (CASR), and cyclin-dependent kinase inhibitor 1B (CDKN1B), which are associated with the hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia type 1, and MEN4, respectively. "
7.	Tumor Suppressor Proteins (Proteins, Tumor Suppressor)IBA 11/01/2013 - "HPT-JT is associated with an inactivating mutation of CDC73, a gene that codes for the tumor suppressor protein parafibromin. " 02/01/2007 - "Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function." 11/11/2008 - "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. " 02/01/2007 - "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. " 12/01/2010 - "Inactivation of the HRPT2/CDC73 gene, encoding the putative tumor-suppressor protein parafibromin and discovered in the context of the hyperparathyroidism-jaw tumor (HPT-JT) syndrome, is a common, somatic event in most parathyroid cancers. "
8.	DNA (Deoxyribonucleic Acid)IBA 08/01/2014 - "A total of 22 patients, from four FIHP/HPT-JT families of Chinese descent, were recruited and genomic DNA was extracted from their peripheral blood lymphocytes. " 04/17/2018 - "We searched for large deletions at the CDC73 locus in patients with: HPT-JT (nr 2), atypical adenoma (nr 7) or sporadic parathyroid carcinoma (nr 11) with a specific MLPA and qRT-PCR assays applied on DNA extracted from whole blood. " 03/01/2010 - "The tumor suppressor HRPT2/CDC73 is mutated in constitutive DNA from patients with the familial disorder hyperparathyroidism-jaw tumor syndrome and in approximately 70% of all parathyroid carcinomas. " 07/29/2007 - "Mutation analysis of the DNA revealed heterozygous nonsense mutation R234X in exon 7 of the HRPT2 gene, a tumor suppressor gene responsible for the HPT-JT syndrome. "
9.	Amino Acids FDA Link 01/01/2017 - "HPT-JT is caused by mutations of the cell division cycle 73 (CDC73) gene, located on chromosome 1q31.2 and encodes a 531 amino acid protein, parafibromin. " 03/01/2010 - "The gene responsible for HPT-JT, known as CDC73, was identified in 2002 and encodes a 531 amino acid protein known as parafibromin. " 03/01/2006 - "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. HRPT2 encodes a 531 amino acid protein, parafibromin, which interacts with human homologues of the yeast Paf1 complex. " 01/01/2005 - "The gene causing HPT-JT, which is referred to as HRPT2 and is located on chromosome 1q31.2, encodes a 531 amino acid protein called PARAFIBROMIN. "
10.	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 12/01/2016 - "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. " 11/17/2023 - "RNA-sequencing showed a significant association of HPT-JT-related parathyroid tumors with transmembrane receptor protein tyrosine kinase signaling pathway, mesodermal commitment pathway, and cell-cell adhesion. "

Therapies and Procedures

1.	Parathyroidectomy 01/01/2020 - "The present study was aimed at determining the long-term postoperative outcome of parathyroidectomy in HPT-JT. " 01/01/2020 - "Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations." 01/01/2014 - "A 25-year old Caucasian female with hyperparathyroidism-jaw tumor syndrome underwent parathyroidectomy. " 06/23/2017 - "We report on four patients who were referred to our surgical team at an academic tertiary care center for what was perceived to be recurrent hyperparathyroidism 2-5 years following total parathyroidectomy with auto-transplantation. " 11/01/2009 - "Issue 3: surgery in familial isolated HPT and HPT-jaw tumor (HPT-JT) syndrome may be treated with parathyroidectomy that is subtotal or less, although the risk of parathyroid cancer in HPT-JT requires attention (no grade of recommendation). "
2.	Autologous Transplantation 06/01/2017 - "Hereditary Primary Hyperparathyroidism may frequently occur associated to MEN 1, MEN 2A, MEN 4, Hyperparathyroidism-Jaw Tumor Syndrome; it may involve all the parathyroid glands, requiring subtotal parathyroidectomy or total parathyroidectomy plus autotransplantation. " 12/01/2015 - "Bilateral neck exploration with subtotal parathyroidectomy or total parathyroidectomy + autotransplantation should be performed, especially in MEN 1, in order to decrease the persistent and recurrent hyperparathyroidism rates; in some variants (MEN 2A, HPT-JT), limited parathyroidectomy can achieve long-term normocalcemia. "
3.	Therapeutics 04/01/2003 - "All patients resumed their lithium therapy, with 1 of 15 patients developing recurrent hyperparathyroidism 2 years following the first operation; this patient required reexploration, at which time an adenoma was resected. " 12/01/2012 - "A 26-year-old nulligravid woman with familial HPT-JT presented with life-long menorrhagia resistant to progesterone intrauterine device (IUD) therapy and a desire for fertility. "
4.	Transplantation 06/23/2017 - "We report on four patients who were referred to our surgical team at an academic tertiary care center for what was perceived to be recurrent hyperparathyroidism 2-5 years following total parathyroidectomy with auto-transplantation. "
5.	Intrauterine Devices (Intrauterine Device) 12/01/2012 - "A 26-year-old nulligravid woman with familial HPT-JT presented with life-long menorrhagia resistant to progesterone intrauterine device (IUD) therapy and a desire for fertility. "