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 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
Network
nt06318  CaSR-PTH signaling
  Element
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
LinkDB

» Japanese version

KEGG   DISEASE: Neonatal hyperparathyroidism
Entry
H02030                      Disease                                

Name
Neonatal hyperparathyroidism
  Subgroup
Transient neonatal hyperparathyroidism (HRPTTN)
  Supergrp
Calcium sensing receptor (CASR) related disease [DS:H00245]
Description
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.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Parathyroid diseases
   H02030  Neonatal 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
     H02030  Neonatal hyperparathyroidism
Network
  Element
N00292  Mutation-inactivated CASR to CasR-PTH signaling pathway
Gene
(NHPT) CASR [HSA:846] [KO:K04612]
(HRPTTN) TRPV6 [HSA:55503] [KO:K04975]
Other DBs
ICD-11: 5A51.Y
ICD-10: E21.0
MeSH: C563375
OMIM: 239200 618188
Reference
PMID:9109436
  Authors
Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN
  Title
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
  Journal
J Clin Invest 99:1917-25 (1997)
DOI:10.1172/JCI119359
Reference
PMID:8675635
  Authors
Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al.
  Title
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
  Journal
J Clin Invest 96:2683-92 (1995)
DOI:10.1172/JCI118335
Reference
  Authors
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
  Title
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
  Journal
Am J Hum Genet 102:1104-1114 (2018)
DOI:10.1016/j.ajhg.2018.04.006
LinkDB

» Japanese version

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