KEGG   DISEASE: Excessive secretion of growth hormone
Entry
H01864                      Disease                                
Name
Excessive secretion of growth hormone
  Subgroup
Acromegaly [DS:H01483]
Pituitary gigantism [DS:H01618]
Description
Excessive secretion of growth hormone (GH) causes acromegaly [DS:H01483] and pituitary gigantism [DS:H01618]. They have the same pathogenetic mechanism, but differ regarding the age of onset. Gigantism occurs much earlier in life when the skeleton still has the potential to grow, a developmental phase now known as prepubertal. Although most cases occur as a result of a sporadic GH-secreting pituitary adenoma, they can occur in a familial setting.
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 pituitary hormone system
    5A60  Hyperfunction of pituitary gland
     H01864  Excessive secretion of growth hormone
Gene
AIP [HSA:9049] [KO:K17767]
GPR101 [HSA:83550] [KO:K08423]
Other DBs
ICD-11: 5A60.0
MeSH: D000172 D005877
OMIM: 102200 300943
Reference
  Authors
Herder WW
  Title
Familial gigantism.
  Journal
Clinics (Sao Paulo) 67 Suppl 1:29-32 (2012)
DOI:10.6061/clinics/2012(Sup01)06
Reference
  Authors
Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
  Title
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
  Journal
N Engl J Med 371:2363-74 (2014)
DOI:10.1056/NEJMoa1408028
Reference
  Authors
Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA
  Title
Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
  Journal
Science 312:1228-30 (2006)
DOI:10.1126/science.1126100
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