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 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
     H02030  Neonatal hyperparathyroidism
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06318  CaSR-PTH signaling
   H02030  Neonatal hyperparathyroidism
Network
nt06318 CaSR-PTH signaling
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
PMID:29861107
  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
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