HPT, hypoparathyroidism, 3258

N. diseases: 71; N. variants: 0
Disease: Parathyroid Gland Adenocarcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		0.030 GeneticVariation disease 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: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		0.030 GeneticVariation disease BEFREE HRPT2/CDC73 gene mutations are responsible for HPT-JT and sporadic parathyroid carcinoma. 21985978 2011
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		0.030 GeneticVariation disease BEFREE Inactivating HRPT2 mutations are common in HPT- JT and parathyroid carcinomas, and have been described in a few cases of parathyroid adenomas with cystic features. 16728578 2006