KEGG   DISEASE: Pituitary adenomas
Entry
H01102                      Disease                                
Name
Pituitary adenomas
  Subgroup
Multiple endocrine neoplasia type 1 (MEN1)
MEN1-like syndrome (MEN4)
Carney complex (CNC) [DS:H01820]
Familial isolated pituitary adenomas (FIPA)
  Supergrp
Cushing syndrome [DS:H01431]
Description
Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial disturbances due to mass effect. The tumor can be clinically nonfunctioning or hormone secreting. Among the latter, prolactin (PRL) and growth hormone (GH)-secreting adenomas are the most common. The majority of pituitary adenomas arise sporadically, although a subset occurs as component tumors of well-characterized familial cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and MEN1-like syndrome (MEN4).
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Hypothalamus and pituitary gland diseases
   H01102  Pituitary adenomas
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    2F37  Benign neoplasm of endocrine glands
     H01102  Pituitary adenomas
Related
pathway
hsa04012  ErbB signaling pathway
hsa04110  Cell cycle
hsa04210  Apoptosis
hsa04910  Insulin signaling pathway
Network
nt06234  cAMP signaling
nt06310  CRH-ACTH-cortisol signaling
Gene
(MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
(CNC) PRKAR1A [HSA:5573] [KO:K04739]
(PITA1) AIP [HSA:9049] [KO:K17767]
(PITA2) GPR101 [HSA:83550] [KO:K08423]
(PITA3) GNAS [HSA:2778] [KO:K04632]
(PITA4) USP8 [HSA:9101] [KO:K11839]
(PITA5) CDH23 [HSA:64072] [KO:K06813]
RASD1 [HSA:51655] [KO:K07843]
Drug
Omeprazole [DR:D00455]
Other DBs
ICD-11: 2F37.0
ICD-10: D44.8
MeSH: D010911
OMIM: 600634 610755 160980 102200 300943 617686 219090 617540
Reference
  Authors
Tichomirowa MA, Daly AF, Beckers A
  Title
Familial pituitary adenomas.
  Journal
J Intern Med 266:5-18 (2009)
DOI:10.1111/j.1365-2796.2009.02109.x
Reference
  Authors
Xiong Q, Ge W
  Title
Gene mutations in Cushing's disease.
  Journal
Biomed Rep 5:277-282 (2016)
DOI:10.3892/br.2016.729
Reference
  Authors
Caimari F, Korbonits M
  Title
Novel Genetic Causes of Pituitary Adenomas.
  Journal
Clin Cancer Res 22:5030-5042 (2016)
DOI:10.1158/1078-0432.CCR-16-0452
Reference
PMID:9103196 (MEN1)
  Authors
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ
  Title
Positional cloning of the gene for multiple endocrine neoplasia-type 1.
  Journal
Science 276:404-7 (1997)
DOI:10.1126/science.276.5311.404
Reference
PMID:17030811 (CDKN1B)
  Authors
Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ
  Title
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
  Journal
Proc Natl Acad Sci U S A 103:15558-63 (2006)
DOI:10.1073/pnas.0603877103
Reference
PMID:10973256 (PRKAR1A)
  Authors
Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA
  Title
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
  Journal
Nat Genet 26:89-92 (2000)
DOI:10.1038/79238
Reference
PMID:16728643 (AIP)
  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
Reference
PMID:25470569 (GPR101)
  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
PMID:7737262 (GNAS)
  Authors
Williamson EA, Ince PG, Harrison D, Kendall-Taylor P, Harris PE
  Title
G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas.
  Journal
Eur J Clin Invest 25:128-31 (1995)
DOI:10.1111/j.1365-2362.1995.tb01537.x
Reference
PMID:25485838 (USP8)
  Authors
Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M
  Title
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
  Journal
Nat Genet 47:31-8 (2015)
DOI:10.1038/ng.3166
Reference
PMID:28413019 (CDH23)
  Authors
Zhang Q, Peng C, Song J, Zhang Y, Chen J, Song Z, Shou X, Ma Z, Peng H, Jian X, He W, Ye Z, Li Z, Wang Y, Ye H, Zhang Z, Shen M, Tang F, Chen H, Shi Z, Chen C, Chen Z, Shen Y, Wang Y, Lu S, Zhang J, Li Y, Li S, Mao Y, Zhou L, Yan H, Shi Y, Huang C, Zhao Y
  Title
Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
  Journal
Am J Hum Genet 100:817-823 (2017)
DOI:10.1016/j.ajhg.2017.03.011
Reference
PMID:28487882 (RASD1)
  Authors
Uzilov AV, Cheesman KC, Fink MY, Newman LC, Pandya C, Lalazar Y, Hefti M, Fowkes M, Deikus G, Lau CY, Moe AS, Kinoshita Y, Kasai Y, Zweig M, Gupta A, Starcevic D, Mahajan M, Schadt EE, Post KD, Donovan MJ, Sebra R, Chen R, Geer EB
  Title
Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
  Journal
Cold Spring Harb Mol Case Stud 3:a001602 (2017)
DOI:10.1101/mcs.a001602
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