Primary hyperparathyroidism;
Familial hyperparathyroidism

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.

Endocrine disease; Urinary system disease

nt06318  CaSR-PTH signaling

CDC73 [HSA:79577] [KO:K15175]
MEN1 [HSA:4221] [KO:K14970]
CASR [HSA:846] [KO:K04612]
GCM2 [HSA:9247] [KO:K21598]

Cinacalcet hydrochloride [DR:D03505]

PMID:19092296

Cetani F, Pardi E, Ambrogini E, Banti C, Viacava P, Borsari S, Bilezikian JP, Pinchera A, Marcocci C

Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment.

J Endocrinol Invest 31:900-4 (2008)
DOI:10.1007/BF03346439

PMID:18684024

DeLellis RA, Mazzaglia P, Mangray S

Primary hyperparathyroidism: a current perspective.

Arch Pathol Lab Med 132:1251-62 (2008)
DOI:10.1043/1543-2165(2008)132[1251:PHACP]2.0.CO;2

PMID:16001331

Wang PF, Tan MH, Zhang C, Morreau H, Teh BT

HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome.

Horm Metab Res 37:380-3 (2005)
DOI:10.1055/s-2005-870150

PMID:27745835

Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Am J Hum Genet 99:1034-1044 (2016)
DOI:10.1016/j.ajhg.2016.08.018