H01483 | |
H number | H01483 |
Name | Acromegaly |
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 and metabolic disease |
Network | nt06324(H01483) GHRH-GH-IGF signaling |
Gene | AIP [HSA:9049] [KO:K17767] GNAS [HSA:2778] [KO:K04632] GPR101 [HSA:83550] [KO:K08423] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Bromocriptine mesylate [DR:D00780] Pegvisomant [DR:D05394] Octreotide acetate [DR:D06495] Lanreotide acetate [DR:D04666] Pasireotide pamoate [DR:D10566] |
Comment | - |
Other DBs | ICD-11: 5A60.0 ICD-10: E22.0 MeSH: D000172 OMIM: 300943 102200 |
Reference | PMID:26136383 AUTHORS Capatina C, Wass JA TITLE 60 YEARS OF NEUROENDOCRINOLOGY: Acromegaly. JOURNAL J Endocrinol 226:T141-60 (2015) DOI:10.1530/JOE-15-0109 PMID:26815903 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 PMID:16118335 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 PMID:25470569 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 |