KEGG   DISEASE: Hypoparathyroidism
Entry
H01862                      Disease                                

Name
Hypoparathyroidism
Description
Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia resulting from insufficient or defective parathyroid hormone (PTH) action. PTH is a key calcium regulating hormone essential for calcium homeostasis, vitamin D-dependant calcium absorption, renal calcium reabsorption and renal phosphate clearance. Hypocalcemic patients can present with a wide range of symptoms, including fatigue, cramping, tetany, seizures and congestive heart failure. Mild chronic hypocalcemia can be asymptomatic. The most common cause of hypoparathyroidism is iatrogenic in the setting of anterior neck surgery. Hypoparathyroidism may be due to congenital or acquired disorders. Causes include autoimmune diseases, genetic abnormalities, destruction or infiltrative disorders of the parathyroids. Hypoparathyroidism may be further classified as isolated or syndromic. Genetic syndromes with hypoparathyroidism include DiGeorge syndrome (H01524), HDR syndrome (H01271), Kenny-Caffey syndrome (H00619), Kearns-Sayre syndrome (H01355), and so on. Isolated hypoparathyroidism has been reported as apparently sporadic, or as a familial trait with either autosomal dominant, autosomal recessive, or X chromosome-linked inheritance. Mutations in the preproPTH gene have been described in both autosomal dominant and autosomal recessive forms of familial isolated hypoparathyroidism. And a mutation of the parathyroid-specific transcription factor GCMB (GCM2) gene has also been reported in autosomal recessive hypoparathyroidism. Oral calcium and vitamin D analogs are critical in the treatment of hypocalcemia.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Parathyroid diseases
   H01862  Hypoparathyroidism
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the parathyroids or parathyroid hormone system
    5A50  Hypoparathyroidism
     H01862  Hypoparathyroidism
Network
nt06318  CaSR-PTH signaling
  Element
N00295  Mutation-inactivated GCM2 to transcription
N00296  Mutation-inactivated PTH to degradation
Gene
PTH [HSA:5741] [KO:K05261]
GCM2 [HSA:9247] [KO:K21598]
Drug
Calcitriol [DR:D00129]
Parathyroid hormone (human) [DR:D05364]
Comment
See also H01524 DiGeorge syndrome, H01271 HDR syndrome, H00619 Kenny-Caffey syndrome, and H01355 Kearns-Sayre syndrome.
Other DBs
ICD-11: 5A50
ICD-10: E20
MeSH: D007011
OMIM: 146200
Reference
  Authors
Thomee C, Schubert SW, Parma J, Le PQ, Hashemolhosseini S, Wegner M, Abramowicz MJ
  Title
GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
  Journal
J Clin Endocrinol Metab 90:2487-92 (2005)
DOI:10.1210/jc.2004-2450
Reference
PMID:2212001
  Authors
Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM
  Title
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
  Journal
J Clin Invest 86:1084-7 (1990)
DOI:10.1172/JCI114811
Reference
  Authors
Ding C, Buckingham B, Levine MA
  Title
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
  Journal
J Clin Invest 108:1215-20 (2001)
DOI:10.1172/JCI13180
Reference
PMID:22863393 (drug)
  Authors
Al-Azem H, Khan AA
  Title
Hypoparathyroidism.
  Journal
Best Pract Res Clin Endocrinol Metab 26:517-22 (2012)
DOI:10.1016/j.beem.2012.01.004
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