KEGG   DISEASE: AcromegalyHelp
Entry
H01483                      Disease                                

Name
Acromegaly
  Supergrp
Excessive secretion of growth hormone [DS:H01864]
Description
Acromegaly (ACM) is a disorder characterized by increased circulating GH and IGF-I (a GH-induced liver protein) levels that is associated with significant morbidity and excess mortality. Patients with persistently elevated GH and IGF-I levels have an increased risk of multiple comorbidities, including left ventricular dysfunction, obstructive sleep apnea, arthritis, impaired glucose tolerance, and colonic polyps. Most cases of ACM occur as a result of a sporadic GH-secreting pituitary adenoma (PA). However, ACM can occur in a familial setting, either associated with other endocrine abnormalities or as an isolated disorder. Somatic activating mutations in the GNAS gene, which encodes for the Gs-alpha subunit of G-proteins, are found in up to 40% of sporadic GH-secreting PA. Familial ACM can occur in the context of rare inherited syndromes such as familial isolated pituitary adenoma (FIPA), which is caused in 15-20% of cases by aryl hydrocarbon receptor interacting protein (AIP) gene germline mutations. Moreover, a recurrent mutation was found in GPR101 in some patients with non-familial ACM.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Hypothalamus and pituitary gland diseases
   H01483  Acromegaly
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
     H01483  Acromegaly
BRITE hierarchy
Gene
AIP [HSA:9049] [KO:K17767]
GNAS [HSA:2778] [KO:K04632]
GPR101 [HSA:83550] [KO:K08423]
Drug
Bromocriptine mesylate [DR:D00780]
Pegvisomant [DR:D05394]
Octreotide acetate [DR:D06495]
Lanreotide acetate [DR:D04666]
Pasireotide pamoate [DR:D10566]
Other DBs
ICD-11: 5A60.0
ICD-10: E22.0
MeSH: D000172
OMIM: 300943 102200
Reference
PMID:26136383 (description, gene, drug)
  Authors
Capatina C, Wass JA
  Title
60 YEARS OF NEUROENDOCRINOLOGY: Acromegaly.
  Journal
J Endocrinol 226:T141-60 (2015)
DOI:10.1530/JOE-15-0109
Reference
PMID:26815903 (descroiption, gene)
  Authors
Ferrau F, Romeo PD, Puglisi S, Ragonese M, Torre ML, Scaroni C, Occhi G, De Menis E, Arnaldi G, Trimarchi F, Cannavo S
  Title
Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
  Journal
Endocrine 54:762-767 (2016)
DOI:10.1007/s12020-016-0862-4
Reference
  Authors
Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S
  Title
The implication of somatotroph adenoma phenotype to somatostatin analog responsiveness in acromegaly.
  Journal
J Clin Endocrinol Metab 90:6290-5 (2005)
DOI:10.1210/jc.2005-0998
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
PMID:20720589 (marker)
  Authors
Biermasz N
  Title
Pituitary gland: New consensus in acromegaly: criteria for cure and control.
  Journal
Nat Rev Endocrinol 6:480-1 (2010)
DOI:10.1038/nrendo.2010.129
Reference
PMID:12670296 (marker)
  Authors
Brabant G
  Title
Insulin-like growth factor-I: marker for diagnosis of acromegaly and monitoring the efficacy of treatment.
  Journal
Eur J Endocrinol 148 Suppl 2:S15-20 (2003)
DOI:10.1530/eje.0.148S015
Reference
PMID:17077948 (drug)
  Authors
Scacchi M, Cavagnini F
  Title
Acromegaly.
  Journal
Pituitary 9:297-303 (2006)
DOI:10.1007/s11102-006-0409-4
Reference
(drug)
  Authors
Papadakis MA and McPhee SJ |(ed)
  Title
Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
  Journal
McGraw Hill Education

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