KEGG DISEASE: Primary hyperparathyroidism

KEGG

DISEASE: Primary hyperparathyroidism

Entry

H00246                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the parathyroids or parathyroid hormone system
    5A51  Hyperparathyroidism
     H00246  Primary hyperparathyroidism
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06318  CaSR-PTH signaling
   H00246  Primary hyperparathyroidism

Pathway

Parathyroid hormone synthesis, secretion and action

Network

nt06318 CaSR-PTH signaling

Gene

(HRPT1/2) CDC73 [HSA:79577] [KO:K15175]
(NSHPT) CASR [HSA:846] [KO:K04612]
(HRPT4) GCM2 [HSA:9247] [KO:K21598]
MEN1 [HSA:4221] [KO:K14970]

Drug

Cinacalcet hydrochloride [DR:D03505]

Other DBs

ICD-11:

MeSH:

OMIM:

145000 145001 239200 617343

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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