KEGG   DISEASE: 下垂体性成長ホルモン分泌亢進症
エントリ  
H01864                                                             
名称    
下垂体性成長ホルモン分泌亢進症
  下位グループ
先端巨大症 [DS:H01483]
下垂体性巨人症 [DS:H01618]
概要    
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.
カテゴリ  
内分泌代謝疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   下垂体ホルモン系の疾患
    5A60  下垂体機能亢進症
     H01864  下垂体性成長ホルモン分泌亢進症
指定難病 [jp08407.html]
 H01864
病因遺伝子 
AIP [HSA:9049] [KO:K17767]
GPR101 [HSA:83550] [KO:K08423]
リンク   
ICD-11: 5A60.0
MeSH: D000172 D005877
OMIM: 102200 300943
文献    
  著者
Herder WW
  タイトル
Familial gigantism.
  雑誌
Clinics (Sao Paulo) 67 Suppl 1:29-32 (2012)
DOI:10.6061/clinics/2012(Sup01)06
文献    
  著者
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
  タイトル
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
  雑誌
N Engl J Med 371:2363-74 (2014)
DOI:10.1056/NEJMoa1408028
文献    
  著者
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
  タイトル
Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
  雑誌
Science 312:1228-30 (2006)
DOI:10.1126/science.1126100
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