KEGG   DISEASE: Primary hyperparathyroidismHelp
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 disease; Urinary system disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Parathyroid diseases
   H00246  Primary hyperparathyroidism
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
BRITE hierarchy
Network
N00290  Mutation-inactivated MEN1 to transcription
N00292  Mutation-inactivated CASR to CasR-PTH signaling pathway
N00294  Mutation-activated GCM2 to transcription
Gene
CDC73 [HSA:79577] [KO:K15175]
MEN1 [HSA:4221] [KO:K14970]
CASR [HSA:846] [KO:K04612]
GCM2 [HSA:9247] [KO:K21598]
Drug
Cinacalcet hydrochloride [DR:D03505]
Other DBs
ICD-11: 5A51.0
ICD-10: E21.0
MeSH: D049950
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

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