H00246 | |
H number | H00246 |
Name | Primary hyperparathyroidism; Familial hyperparathyroidism |
Description | Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene. |
Category | Endocrine and metabolic disease |
Network | nt06318 CaSR-PTH signaling |
Gene | CDC73 [HSA:79577] [KO:K15175] MEN1 [HSA:4221] [KO:K14970] CASR [HSA:846] [KO:K04612] GCM2 [HSA:9247] [KO:K21598] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Cinacalcet hydrochloride [DR:D03505] |
Comment | - |
Other DBs | ICD-11: 5A51.0 ICD-10: E21.0 MeSH: D049950 OMIM: 145000 145001 239200 617343 |
Reference | PMID:19092296 AUTHORS Cetani F, Pardi E, Ambrogini E, Banti C, Viacava P, Borsari S, Bilezikian JP, Pinchera A, Marcocci C TITLE Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment. JOURNAL J Endocrinol Invest 31:900-4 (2008) DOI:10.1007/BF03346439 PMID:18684024 AUTHORS DeLellis RA, Mazzaglia P, Mangray S TITLE Primary hyperparathyroidism: a current perspective. JOURNAL Arch Pathol Lab Med 132:1251-62 (2008) DOI:10.1043/1543-2165(2008)132[1251:PHACP]2.0.CO;2 PMID:16001331 AUTHORS Wang PF, Tan MH, Zhang C, Morreau H, Teh BT TITLE HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. JOURNAL Horm Metab Res 37:380-3 (2005) DOI:10.1055/s-2005-870150 PMID:27745835 AUTHORS Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK TITLE GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. JOURNAL Am J Hum Genet 99:1034-1044 (2016) DOI:10.1016/j.ajhg.2016.08.018 |