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

Neonatal hyperparathyroidism

Transient neonatal hyperparathyroidism (HRPTTN)

Calcium sensing receptor (CASR) related disease [DS:H00245]

Neonatal hyperparathyroidism (NHPT) is a disorder of calcium homeostasis that is associated with missense mutations of the calcium-sensing receptor. NHPT is characterized by marked elevation in serum calcium and parathyroid hormone (PTH) levels, skeletal demineralization, and parathyroid cellular hyperplasia that can be lethal without parathyroidectomy.

Endocrine disease

(NHPT) CASR [HSA:846] [KO:K04612]
(HRPTTN) TRPV6 [HSA:55503] [KO:K04975]

PMID:9109436

Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN

Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

J Clin Invest 99:1917-25 (1997)
DOI:10.1172/JCI119359

PMID:8675635

Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al.

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

J Clin Invest 96:2683-92 (1995)
DOI:10.1172/JCI118335

PMID:29861107

Suzuki Y, Chitayat D, Sawada H, Deardorff MA, McLaughlin HM, Begtrup A, Millar K, Harrington J, Chong K, Roifman M, Grand K, Tominaga M, Takada F, Shuster S, Obara M, Mutoh H, Kushima R, Nishimura G

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

Am J Hum Genet 102:1104-1114 (2018)
DOI:10.1016/j.ajhg.2018.04.006