MCID: ACR007
MIFTS: 66

Acromegaly malady

Categories: Rare diseases, Reproductive diseases, Endocrine diseases

Aliases & Classifications for Acromegaly

Aliases & Descriptions for Acromegaly:

Name: Acromegaly 12 50 56 13 52 42 14 69
Growth Hormone Excess 50 29
Growth Hormone-Secreting Pituitary Adenoma 69
Somatotroph Adenoma 50
Pituitary Giant 50

Characteristics:

Orphanet epidemiological data:

56
acromegaly
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Worldwide),1-9/100000 (Worldwide),1-9/100000 (Spain),1-9/100000 (Italy),1-9/100000 (United Kingdom),1-9/1000000 (Belgium),1-9/100000 (Belgium),1-5/10000 (Germany),1-9/100000 (Croatia),1-9/1000000 (Ireland),1-9/100000 (Ireland),1-9/1000000 (Finland),1-9/1000000 (Korea, Republic of),1-9/100000 (Korea, Republic of),1-9/1000000 (Iceland),1-5/10000 (Iceland); Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:2449
MeSH 42 D000172
NCIt 47 C84533
Orphanet 56 ORPHA963
MESH via Orphanet 43 D000172
UMLS via Orphanet 70 C0001206
ICD10 via Orphanet 34 E22.0
UMLS 69 C0001206

Summaries for Acromegaly

NIH Rare Diseases : 50 acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (gh). it is most often diagnosed in middle-aged adults, although symptoms can appear at any age. signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that; alter various facial features; arthritis; carpal tunnel syndrome; enlargement of body organs; and various other symptoms. the condition is usually caused by benign tumors on the pituitary called adenomas. rarely, it is caused by tumors of the pancreas, lungs, and other parts of the brain stimulating the pituitary gland to produce gh. it is sporadic in 95% of the cases, but almost 50% of the childhood-onset cases have an identifiable gene mutation, most commonly in the aip gene or gpr101 gene. treatment may include hormones, radiotherapy, and surgery. when left untreated, it can result in serious illness and premature death. when gh-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly.   acromegaly may also be part of other genetic syndromes such as multiple endocrine neoplasia syndrome type 1 and type 4, hereditary paraganglioma-pheochromocytoma syndrome, mccune-allright syndrome, neurofibromatosis or carney complex.  last updated: 2/10/2017

MalaCards based summary : Acromegaly, also known as growth hormone excess, is related to ossification of the posterior longitudinal ligament of spine and adrenal adenoma, and has symptoms including arthralgia, fatigue and joint swelling. An important gene associated with Acromegaly is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways/superpathways are Signaling by GPCR and TGF-Beta Pathway. The drugs Octreotide and lanreotide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and skin, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Disease Ontology : 12 A disease of metabolism that has material basis in excessive growth hormone production which results_in enlargement located in limb.

Wikipedia : 71 Acromegaly is a disorder that results from excess growth hormone (GH) after the growth plates have... more...

Related Diseases for Acromegaly

Diseases related to Acromegaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 286)
id Related Disease Score Top Affiliating Genes
1 ossification of the posterior longitudinal ligament of spine 31.0 GH1 GHR GHRH GHRHR IGF1
2 adrenal adenoma 29.2 GHRL IGF1 INS POMC
3 pulmonary neuroendocrine tumor 28.5 AIP GH1 GHR MEN1 POMC PRL
4 pituitary adenoma, growth hormone-secreting 11.9
5 x-linked intellectual disability-acromegaly-hyperactivity syndrome 11.8
6 pituitary adenoma, growth hormone-secreting 2 11.5
7 gigantism 11.2
8 pituitary tumors 11.1
9 mccune-albright syndrome, somatic, mosaic 10.8
10 pituitary adenoma, prolactin-secreting 10.8
11 adenoma 10.3
12 pemphigus vegetans 10.3 GH1 GHR SST
13 cerebral hemisphere lipoma 10.3 GH1 PRL SST
14 sohval soffer syndrome 10.3 IGF1 IGFBP3
15 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.3 GH1 IGF1 IGFBP3
16 seow najjar syndrome 10.3 IGF1 IGFBP3 INS
17 grin2a-related speech disorders and epilepsy 10.3 GH1 GNAS PRL
18 deafness, autosomal dominant 25 10.3 GHR IGF1
19 diarrhea 3, secretory sodium, congenital, syndromic 10.3 IGF1 IGFBP3 INS
20 hyperinsulinemic hypoglycemia, familial, 5 10.3 IGF1 IGFBP3 INS
21 primary effusion lymphoma 10.3 GH1 GNAS IGF1
22 burning mouth syndrome type 3 10.3 POMC SST
23 renal hypoplasia, bilateral 10.3 POMC SST
24 atp7a-related copper transport disorders 10.3 AIP GNAS
25 water-clear cell adenoma 10.2 POMC SST
26 epidural spinal canal meningioma 10.2 IGF1 INS PRL
27 vaginal adenoma 10.2 IGF1 POMC SST
28 insulin-like growth factor i 10.2
29 neuritis 10.2 SST SSTR2 SSTR5
30 pituitary adenoma 10.2
31 extragonadal nonseminomatous germ cell tumor 10.2 POMC PRL SST
32 nonparalytic poliomyelitis 10.2 POMC PRL SST
33 bone benign neoplasm 10.2 IGF1 POMC PRL
34 spondyloepimetaphyseal dysplasia, isidor type 10.2 AIP MEN1
35 spondylometaphyseal dysplasia, czarny-ratajczak type 10.2 AIP MEN1
36 gershoni-baruch syndrome 10.2 PRL TRH
37 paranasal sinus cancer, adult 10.2 INS MEN1 SST
38 esophagus squamous cell papilloma 10.2 POMC PRL SST
39 sphingolipidosis 10.2 INS POMC PRL
40 breast secretory carcinoma 10.1 POMC SST SSTR2
41 acute pyelonephritis 10.1 INS MEN1 SST
42 axial osteomalacia 10.1 GH1 GNAS IGF1 PRL SST
43 caudal regression syndrome 10.1 GH1 IGF1 POMC PRL
44 gemistocytic astrocytoma 10.1 GHRH MEN1 SST
45 necrobiosis lipoidica 10.1 IGF1 IGFBP3 PRL
46 pituitary apoplexy 10.1
47 brucella canis brucellosis 10.1 IGF1 IGF2 INS
48 dacryoadenitis 10.1 IGF1 INS POMC PRL
49 haverhill fever 10.1 IGF1 IGF2 PRL
50 bowen-conradi syndrome 10.1 AIP MEN1 PRL

Graphical network of the top 20 diseases related to Acromegaly:



Diseases related to Acromegaly

Symptoms & Phenotypes for Acromegaly

Human phenotypes related to Acromegaly:

56 32 (show top 50) (show all 58)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 fatigue 56 32 Very frequent (99-80%) HP:0012378
3 joint swelling 56 32 Very frequent (99-80%) HP:0001386
4 dysuria 56 32 Occasional (29-5%) HP:0100518
5 frontal bossing 56 32 Frequent (79-30%) HP:0002007
6 osteoarthritis 56 32 Very frequent (99-80%) HP:0002758
7 depression 56 32 Frequent (79-30%) HP:0000716
8 diabetes mellitus 56 32 Frequent (79-30%) HP:0000819
9 hypertension 56 32 Frequent (79-30%) HP:0000822
10 hyperhidrosis 56 32 Very frequent (99-80%) HP:0000975
11 kyphosis 56 32 Frequent (79-30%) HP:0002808
12 sleep apnea 56 32 Frequent (79-30%) HP:0010535
13 macroglossia 56 32 Very frequent (99-80%) HP:0000158
14 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
15 mandibular prognathia 56 32 Very frequent (99-80%) HP:0000303
16 macrotia 56 32 Very frequent (99-80%) HP:0000400
17 widely spaced teeth 56 32 Frequent (79-30%) HP:0000687
18 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
19 full cheeks 56 32 Very frequent (99-80%) HP:0000293
20 acanthosis nigricans 56 32 Occasional (29-5%) HP:0000956
21 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
22 generalized hirsutism 56 32 Frequent (79-30%) HP:0002230
23 acne 56 32 Occasional (29-5%) HP:0001061
24 anxiety 56 32 Frequent (79-30%) HP:0000739
25 abnormality of the fingernails 56 32 Frequent (79-30%) HP:0001231
26 anterior hypopituitarism 56 32 Very frequent (99-80%) HP:0000830
27 migraine 56 32 Frequent (79-30%) HP:0002076
28 paresthesia 56 32 Frequent (79-30%) HP:0003401
29 palpebral edema 56 32 Frequent (79-30%) HP:0100540
30 broad forehead 56 32 Very frequent (99-80%) HP:0000337
31 mitral regurgitation 56 32 Occasional (29-5%) HP:0001653
32 long face 56 32 Very frequent (99-80%) HP:0000276
33 pituitary prolactin cell adenoma 56 32 Frequent (79-30%) HP:0006767
34 spinal canal stenosis 56 32 Frequent (79-30%) HP:0003416
35 hoarse voice 56 32 Frequent (79-30%) HP:0001609
36 long penis 56 32 Very frequent (99-80%) HP:0000040
37 cerebral palsy 56 32 Frequent (79-30%) HP:0100021
38 synophrys 56 32 Frequent (79-30%) HP:0000664
39 generalized hyperpigmentation 56 32 Occasional (29-5%) HP:0007440
40 wide nose 56 32 Very frequent (99-80%) HP:0000445
41 large hands 56 32 Very frequent (99-80%) HP:0001176
42 tapered finger 56 32 Very frequent (99-80%) HP:0001182
43 tall stature 56 32 Very frequent (99-80%) HP:0000098
44 abnormality of the toenails 56 32 Frequent (79-30%) HP:0008388
45 impotence 56 32 Occasional (29-5%) HP:0000802
46 broad foot 56 32 Very frequent (99-80%) HP:0001769
47 deep plantar creases 56 32 Very frequent (99-80%) HP:0001869
48 cortical diaphyseal thickening of the upper limbs 56 32 Very frequent (99-80%) HP:0003859
49 macrodactyly 56 32 Very frequent (99-80%) HP:0004099
50 deep palmar crease 56 32 Very frequent (99-80%) HP:0006191

MGI Mouse Phenotypes related to Acromegaly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.28 IGFBP3 INS MEN1 POMC PRL SSTR5
2 homeostasis/metabolism MP:0005376 10.25 AIP GHR GHRH GHRHR GHRL GNAS
3 growth/size/body region MP:0005378 10.21 AIP GHR GHRH GHRHR GNAS IGF1
4 behavior/neurological MP:0005386 10.2 GHRHR GHRL GNAS IGF2 IGFBP3 INS
5 cardiovascular system MP:0005385 10.17 IGF1 IGF2 INS MEN1 POMC SSTR2
6 adipose tissue MP:0005375 10.08 GHR GHRHR GHRL GNAS IGF1 IGFBP3
7 immune system MP:0005387 10.03 GHR GHRH GHRHR GNAS IGF1 IGF2
8 integument MP:0010771 9.85 AIP GHR GHRHR GNAS IGF1 IGF2
9 liver/biliary system MP:0005370 9.7 IGFBP1 IGFBP3 INS MEN1 POMC PRL
10 nervous system MP:0003631 9.44 POMC PRL SST SSTR2 TRH GHR

Drugs & Therapeutics for Acromegaly

Drugs for Acromegaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Octreotide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 83150-76-9 383414 6400441
2
lanreotide Approved Phase 4,Phase 3,Phase 2,Phase 1 108736-35-2
3
Somatostatin Approved Phase 4,Phase 3,Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
4
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
5
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
6
Liraglutide Approved Phase 4 204656-20-2
7
Metformin Approved Phase 4 657-24-9 14219 4091
8
Zinc Approved Phase 4 7440-66-6 32051 23994
9 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
10 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
11 insulin Phase 4,Phase 3,Phase 2
12 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2
13 Mitogens Phase 4,Phase 3,Phase 2
14 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
15 Hormones Phase 4,Phase 3,Phase 2,Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
17 Complement Factor I Phase 4,Phase 3
18 Angiopeptin Phase 4,Phase 3,Phase 2,Phase 1
19 Antiparkinson Agents Phase 4,Phase 3
20 Autonomic Agents Phase 4,Phase 2,Phase 3
21 Dopamine Agents Phase 4,Phase 3,Phase 2
22 Dopamine agonists Phase 4,Phase 3
23 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
24 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
25 Protective Agents Phase 4,Phase 2
26 Liver Extracts Phase 4
27 Pharmaceutical Solutions Phase 4
28 Hypoglycemic Agents Phase 4,Phase 2
29
Lactitol Phase 4,Phase 3,Phase 1 585-86-4 3871
30 Dipeptidyl-Peptidase IV Inhibitors Phase 4
31 HIV Protease Inhibitors Phase 4
32 Incretins Phase 4
33
protease inhibitors Phase 4
34 Sitagliptin Phosphate Phase 4
35
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
36
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
37
Hydrocortisone Approved, Vet_approved Phase 2, Phase 3 50-23-7 5754 657311
38
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
39 Carboxymethylcellulose Sodium Phase 3
40 Edotreotide Phase 3
41 Radiopharmaceuticals Phase 3
42 Adrenergic Agents Phase 2, Phase 3
43 Adrenergic Agonists Phase 2, Phase 3
44 Adrenergic alpha-Agonists Phase 2, Phase 3
45 Adrenergic beta-Agonists Phase 2, Phase 3
46 Androgens Phase 2, Phase 3
47 Anesthetics Phase 2, Phase 3
48 Anesthetics, Local Phase 2, Phase 3
49 Anti-Asthmatic Agents Phase 2, Phase 3
50 Bronchodilator Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 147)
id Name Status NCT ID Phase
1 Effects of Sandostatin LAR® in Acromegaly Unknown status NCT01424241 Phase 4
2 Changes of Left Ventricular Mass and Cardiac Function in Patients With Active Acromegaly During Treatment With the Growth Hormone Receptor Antagonist Pegvisomant Unknown status NCT00552851 Phase 4
3 Growth Hormone Feedback to Insulin-like Growth Factor-I (IGF-1) and Oral Glucose Tolerance Test (OGTT) Unknown status NCT00915954 Phase 4
4 Preoperative Octreotide Treatment of Acromegaly Completed NCT00521300 Phase 4
5 Lanreotide Autogel in Patients With Acromegaly Previously Treated With Octreotide LAR Completed NCT00216398 Phase 4
6 Acute Application of Pegvisomant and Octreotide in Acromegaly Completed NCT00595140 Phase 4
7 Lanreotide Autogel-120 mg as First-Line Treatment of Acromegaly Completed NCT00627796 Phase 4
8 Treatment of Acromegaly With Somatostatin Analogs: GH vs. IGF-I as Primary Biochemical Target Completed NCT01618513 Phase 4
9 Dose Escalation of Octreotide-LAR as First-Line Therapy in Resistant Acromegaly Completed NCT00461149 Phase 4
10 Somatuline Autogel: Acromegaly Self/Partner Injection Study Completed NCT00149188 Phase 4
11 A Study To Compare The Efficacy And Safety Of Pegvisomant To That Of Sandostatin Lar Depot In Patients With Acromegaly Completed NCT00068042 Phase 4
12 A Study to Evaluate the Risk of Developing a Heart Condition Called Valvular Regurgitation in Patients With Acromegaly Treated With Either Lanreotide or Octreotide Completed NCT00234520 Phase 4
13 Octreotide Efficacy and Safety in First-line Acromegalic Patients Completed NCT00171886 Phase 4
14 Short and Long Term Efficacy of Combined Cabergoline and Octreotide Treatment in Acromegalic Patients Completed NCT01014793 Phase 4
15 Comparable Effects of Lanreotide Autogel and Octreotide LAR on GH, IGF-I Levels and Patient Satisfaction Completed NCT00145405 Phase 4
16 Efficacy of Octreotide Acetate and Cabergoline in Patients With Acromegaly Completed NCT00376064 Phase 4
17 A Pilot Study of Pre- and Post-operative Use of Somatuline Depot. Completed NCT01861717 Phase 4
18 Canadian Pegvisomant Compassionate Study In Acromegalic Patients Completed NCT00151437 Phase 4
19 Pegvisomant And Sandostatin LAR Combination Study Completed NCT00068029 Phase 4
20 Non Interventional Study For Patients Treated With Somavert® Completed NCT00858143 Phase 4
21 Study to Evaluate the Efficacy and Safety of Sandostatin LAR at High Dose or in Combination Either With GH-receptor Antagonist or Dopamine-agonist in Acromegalic Patients Completed NCT01278342 Phase 4
22 Change in Quality of Life After Addition of Weekly 40 mg Pegvisomant/Placebo in Controlled Acromegalic Patients Completed NCT00642720 Phase 4
23 Study to Assess the Efficacy of an Extended Injection Interval Schedule of Lanreotide Autogel in Acromegalic Subjects Completed NCT00701363 Phase 4
24 Predictive Factors of Response to Somatostatin Analogues in Acromegalic Patients With Persistent Disease Following Surgery Completed NCT00500227 Phase 4
25 Surgical Debulking of Pituitary Adenomas Completed NCT01371643 Phase 4
26 Assessment of Changes in Metabolic Activity in Liver & Skeletal Muscle in Patients Suffering From Acromegaly Recruiting NCT02115906 Phase 4
27 Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing's Disease or Acromegaly Recruiting NCT02060383 Phase 4
28 Hormonal Outcomes in Acromegalic Patients With Treated Surgery With or Without Long Acting Somatostatin Analogues Recruiting NCT02427295 Phase 4
29 Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in a Novartis-sponsored Study. Recruiting NCT01794793 Phase 4
30 Pasireotide LAR and Pegvisomant Study in Acromegaly Active, not recruiting NCT02668172 Phase 4
31 Study Assessing the Efficacy and Safety of Octreotide Acetate in Patients With Acromegaly, With Micro or Macroadenomas Terminated NCT00242541 Phase 4
32 Safety and Efficacy of Long-acting Repeatable Octreotide Acetate for Injectable Suspension vs. Surgery in Treatment-naïve Patients With Acromegaly Completed NCT00225979 Phase 3
33 Efficacy and Safety of Octreotide (MYCAPSSA™ [Formerly Octreolin™]) for Acromegaly Completed NCT01412424 Phase 3
34 Efficacy and Safety of Pasireotide Long Acting Release (LAR) Versus Octreotide LAR or Lanreotide Autogel (ATG) in Patients With Inadequately Controlled Acromegaly Completed NCT01137682 Phase 3
35 Assessment of the Ability of Subjects With Acromegaly or Their Partners to Administer Somatuline Autogel Completed NCT00447499 Phase 3
36 Efficacy and Safety of Lanreotide Autogel® 60, 90 or 120 mg With Lanreotide 40 mg Prolonged Release (PR) in Acromegaly Completed NCT02493517 Phase 3
37 Efficacy and Tolerability of Lanreotide (Autogel 120 mg) in Patients With Acromegaly Completed NCT00499993 Phase 3
38 Safety and Efficacy of Pasireotide Long Acting Release (LAR) vs. Octreotide LAR in Patients With Active Acromegaly Completed NCT00600886 Phase 3
39 Long Term Study With B2036-PEG Completed NCT00143416 Phase 3
40 Efficacy/Safety of Octreotide Acetate in Patients With Uncontrolled Acromegaly Completed NCT00372697 Phase 3
41 Effect of 120mg Somatuline Autogel at Different Dose Intervals (28, 42 or 56 Days) in Patients With Acromegaly Completed NCT00444873 Phase 3
42 Safety and Efficacy of Octreotide Long Acting Release (LAR) in Treatment Naïve Acromegalic Patients Completed NCT00128232 Phase 3
43 Efficacy and Safety Study of Varying Doses of Lanreotide Autogel in Patients With Acromegaly Completed NCT00234572 Phase 2, Phase 3
44 Open Label Extension Study Evaluating Safety and Biological Activity of C2L-OCT-01 PR in Acromegalic Patients Completed NCT00635765 Phase 3
45 Efficacy and Safety of C2L-OCT-01 PR in Acromegalic Patients Completed NCT00616551 Phase 3
46 Lanreotide as Primary Treatment for Acromegalic Patients With Pituitary Gland Macroadenoma Completed NCT00690898 Phase 3
47 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3
48 Lanreotide Autogel and Pegvisomant Combination Therapy in Acromegalic Patients Completed NCT00383708 Phase 3
49 Efficacy and Safety of Lanreotide Autogel (60, 90 or 120 mg) in Acromegalic Patients Completed NCT00210457 Phase 3
50 Comparison of Oral Octreotide Capsules to Injectable Somatostatin Analogs in Acromegaly Recruiting NCT02685709 Phase 3

Search NIH Clinical Center for Acromegaly

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: acromegaly

Genetic Tests for Acromegaly

Genetic tests related to Acromegaly:

id Genetic test Affiliating Genes
1 Growth Hormone Excess 29

Anatomical Context for Acromegaly

MalaCards organs/tissues related to Acromegaly:

39
Pituitary, Bone, Skin, Testes, Brain, Lung, Pancreas

The Foundational Model of Anatomy Ontology organs/tissues related to Acromegaly:

18
Limb

Publications for Acromegaly

Articles related to Acromegaly:

(show top 50) (show all 1497)
id Title Authors Year
1
Persistent reduction of circulating myeloid calcifying cells in acromegaly. Relevance to the bone-vascular axis. ( 28323966 )
2017
2
Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly. ( 28469926 )
2017
3
Suffocation due to Thoracic Deformity Caused by Acromegaly. ( 28420845 )
2017
4
Cardiovascular comorbidities in acromegaly: an update on their diagnosis and management. ( 28042644 )
2017
5
Assessment of Nasal Carriage of Staphylococcus Aureus and Axillar Flora in Patients With Acromegaly. ( 28060097 )
2017
6
Treatment of acromegaly patients at the Federal University of TriAcngulo Mineiro (UFTM): Experience Report. ( 28492721 )
2017
7
Bone Material Strength index as measured by impact microindentation is altered in patients with acromegaly. ( 28077497 )
2017
8
Safety and tolerability of pasireotide long-acting release in acromegaly-results from the acromegaly, open-label, multicenter, safety monitoring program for treating patients who have a need to receive medical therapy (ACCESS) study. ( 27896545 )
2017
9
HIGH-DOSE AND HIGH-FREQUENCY LANREOTIDE AUTOGEL IN ACROMEGALY: A RANDOMIZED, MULTICENTER STUDY. ( 28419317 )
2017
10
An intrasellar pituitary adenoma-gangliocytoma presenting as acromegaly. ( 28469929 )
2017
11
Outcome of Endoscopic Transsphenoidal Surgery for Acromegaly. ( 28465267 )
2017
12
Long-Term Endocrine Outcomes Following Endoscopic Endonasal Transsphenoidal Surgery for Acromegaly and Associated Prognostic Factors. ( 28368500 )
2017
13
GH-secreting pituitary macroadenoma (acromegaly) associated with progressive dental malocclusion and refractory CPAP treatment. ( 28490347 )
2017
14
Body mass index and insulin-like growth factor 1 as risk factors for discordant growth hormone and insulin-like growth factor 1A levels following pituitary surgery in acromegaly. ( 28341329 )
2017
15
The acylated/unacylated ghrelin ratio is similar in acromegaly patients during different treatment regimens. ( 28402548 )
2017
16
Marked alteration of glycemic profile surrounding lanreotide administration in acromegaly: a case report. ( 28390105 )
2017
17
Treatment adherence and persistence with long-acting somatostatin analog therapy for the treatment of acromegaly: a retrospective analysis. ( 28372573 )
2017
18
Assessment of lung function in a large cohort of patients with acromegaly. ( 28432267 )
2017
19
Matrix metalloproteinase 2 (MMP-2) levels are increased in active acromegaly patients. ( 28332074 )
2017
20
Comorbidities, treatment patterns and cost-of-illness of acromegaly in Sweden: a register-linkage population-based study. ( 27932528 )
2017
21
Calcium and bone turnover markers in acromegaly: a prospective controlled study. ( 28407138 )
2017
22
Evaluation of macular and peripapillary choroidal thickness, macular volume and retinal nerve fiber layer in acromegaly patients. ( 28508245 )
2017
23
Utility of baseline serum phosphorus levels for predicting remission in acromegaly patients. ( 28357781 )
2017
24
Cystatin-C and epicardial adipose tissue as noninvasive predictors of cardiovascular risk in acromegaly. ( 27910111 )
2017
25
Growth hormone deficiency in treated acromegaly and active Cushing's syndrome. ( 28477735 )
2017
26
Effectiveness of first-line pegvisomant monotherapy in acromegaly: an ACROSTUDY analysis. ( 27932529 )
2017
27
Silent somatotroph tumour revisited from a study of 80 patients with and without acromegaly and a review of the literature. ( 27913611 )
2017
28
Usefulness of an ad hoc questionnaire (Acro-CQ) for the systematic assessment of acromegaly comorbidities at diagnosis and their management at follow-up. ( 27153851 )
2016
29
General health status and intelligence scores of children of mothers with acromegaly do not differ from those of healthy mothers. ( 27033692 )
2016
30
Combination of Klinefelter Syndrome and Acromegaly: A Rare Case Report. ( 27124035 )
2016
31
Ectopic Acromegaly Arising from a Pituitary Adenoma within the Bony Intersphenoid Septum of a Patient with Empty Sella Syndrome. ( 27468406 )
2016
32
Role of ambulatory blood pressure monitoring in patients with acromegaly. ( 27153464 )
2016
33
Leptin Receptor Gene Polymorphism may Affect Subclinical Atherosclerosis in Patients with Acromegaly. ( 27563428 )
2016
34
Serial follow-up of presurgical treatment using pasireotide long-acting release with or without octreotide long-acting release for naA^ve active acromegaly. ( 27117887 )
2016
35
Childhood acromegaly due to X-linked acrogigantism: long term follow-up. ( 27631333 )
2016
36
Patients cured of acromegaly do not experience improvement of their skull deformities. ( 27590786 )
2016
37
Remission of acromegaly after treatment withdrawal in patients controlled by cabergoline alone or in combination with octreotide: results from a multicenter study. ( 28012070 )
2016
38
Low frequency of cardniac arrhythmias and lack of structural heart disease in medically-naA^ve acromegaly patients: a prospective study at baseline and after 1A year of somatostatin analogs treatment. ( 27591859 )
2016
39
Pegvisomant: a growth hormone receptor antagonist used in the treatment of acromegaly. ( 27631335 )
2016
40
Patient satisfaction and preferences of lanreotide Autogel treatment in acromegaly. ( 28042650 )
2016
41
Patients with Acromegaly Presenting with Colon Cancer: A Case Series. ( 28025627 )
2016
42
Acromegaly in sleep apnoea patients: a large observational study of 755 patients. ( 27660510 )
2016
43
Coexistence of acromegaly with dural arteriovenous fistula of the cavernous sinus. ( 27194169 )
2016
44
Genetics of gigantism and acromegaly. ( 27657986 )
2016
45
Pregnancy and acromegaly. ( 27568329 )
2016
46
Pasireotide (SIGNIFOR) in acromegaly. After treatment failure: better than pegvisomant. ( 27042726 )
2016
47
Auditory changes in acromegaly. ( 28035526 )
2016
48
Pituitary apoplexy causing spontaneous remission of acromegaly following long-acting octreotide therapy: a rare drug side effect or just a coincidence. ( 27123308 )
2016
49
Three-dimensional soft tissue analysis of the hand: a novel method to investigate effects of acromegaly. ( 27932856 )
2016
50
MANAGEMENT OF ENDOCRINE DISEASE: ACROMEGALY AND CANCER: AN OLD DEBATE REVISITED. ( 27089890 )
2016

Variations for Acromegaly

ClinVar genetic disease variations for Acromegaly:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh37 Chromosome 11, 67250669: 67250669
2 AIP NM_003977.3(AIP): c.469-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267606555 GRCh37 Chromosome 11, 67257508: 67257508
3 AIP NM_003977.3(AIP): c.910C> T (p.Arg304Ter) single nucleotide variant Pathogenic rs104894195 GRCh37 Chromosome 11, 67258381: 67258381
4 AIP NM_003977.3(AIP): c.66_71delAGGAGA (p.Gly23_Glu24del) deletion Pathogenic/Likely pathogenic rs267606567 GRCh37 Chromosome 11, 67250695: 67250700
5 AIP NM_003977.3(AIP): c.824dupA (p.His275Glnfs) duplication Pathogenic/Likely pathogenic rs267606580 GRCh37 Chromosome 11, 67258295: 67258295
6 AIP NM_003977.3(AIP): c.542delT (p.Ile182Serfs) deletion Pathogenic/Likely pathogenic rs267606559 GRCh37 Chromosome 11, 67257582: 67257582
7 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275
8 AIP NM_003977.3(AIP): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908357 GRCh37 Chromosome 11, 67250693: 67250693
9 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
10 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
11 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh37 Chromosome 20, 57484596: 57484596
12 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
13 AIP NM_003977.3(AIP): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs267606541 GRCh37 Chromosome 11, 67254618: 67254618
14 AIP NM_003977.3(AIP): c.721A> G (p.Lys241Glu) single nucleotide variant Pathogenic rs267606573 GRCh37 Chromosome 11, 67257862: 67257862
15 AIP NM_003977.3(AIP) duplication Pathogenic rs267606578 GRCh37 Chromosome 11, 67258276: 67258296
16 AIP NM_003977.3(AIP): c.811C> T (p.Arg271Trp) single nucleotide variant Pathogenic rs267606579 GRCh37 Chromosome 11, 67258282: 67258282

Expression for Acromegaly

Search GEO for disease gene expression data for Acromegaly.

Pathways for Acromegaly

Pathways related to Acromegaly according to GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 GHRH GHRHR GHRL GNAS IGF1 IGF2
2
Show member pathways
13.39 GH1 GHR GHRH GNAS IGF1 IGF2
3
Show member pathways
13 GH1 GHR GHRH GHRHR GHRL GNAS
4
Show member pathways
12.87 GH1 GHRH GNAS IGF1 IGF2 INS
5 12.36 GH1 GHR IGF1 INS PRL
6
Show member pathways
12.22 IGF1 IGF2 IGFBP1 IGFBP3
7
Show member pathways
12.1 GHRL GNAS SSTR2 SSTR5
8
Show member pathways
11.91 GH1 GHRL IGF1 INS POMC
9 11.87 GHRH GHRHR GNAS POMC
10 11.72 IGF1 IGFBP3 INS
11 11.41 GH1 GHRH GNAS IGF1 IGF2
12 11.38 IGF1 IGF2 INS
13 11.33 GNAS IGF1 INS
14 11.27 GH1 GHR IGF1 IGF2
15
Show member pathways
11.16 GH1 GHR PRL
16 10.25 IGF1 IGF2 IGFBP1 IGFBP3

GO Terms for Acromegaly

Cellular components related to Acromegaly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.8 GHRL IGFBP1 IGFBP3 INS MEN1
2 extracellular space GO:0005615 9.7 GH1 GHR GHRH GHRL IGF1 IGF2
3 secretory granule GO:0030141 9.56 GHRHR POMC PRL TRH
4 extracellular region GO:0005576 9.47 GH1 GHR GHRH GHRL GNAS IGF1
5 insulin-like growth factor ternary complex GO:0042567 9.43 IGF1 IGFBP3
6 insulin-like growth factor binding protein complex GO:0016942 9.37 IGF1 IGFBP3
7 endosome lumen GO:0031904 9.33 GH1 INS PRL
8 growth hormone receptor complex GO:0070195 9.32 GH1 GHR

Biological processes related to Acromegaly according to GeneCards Suite gene sharing:

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 response to nutrient GO:0007584 9.83 PRL SST SSTR2
2 insulin receptor signaling pathway GO:0008286 9.83 IGF2 IGFBP1 INS
3 positive regulation of MAPK cascade GO:0043410 9.83 IGF1 IGF2 IGFBP3 INS
4 glucose metabolic process GO:0006006 9.82 GHRL IGF2 INS
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.81 GH1 IGF1 INS
6 cell-cell signaling GO:0007267 9.8 GHRH GPR101 INS POMC SST SSTR2
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.79 GH1 GHR IGF1
8 positive regulation of cAMP biosynthetic process GO:0030819 9.78 GHRH GHRHR GNAS
9 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.77 GHRH GHRHR GNAS
10 hormone-mediated signaling pathway GO:0009755 9.75 GHR GHRL TRH
11 regulation of multicellular organism growth GO:0040014 9.73 GHR IGF1 PRL
12 positive regulation of mitotic nuclear division GO:0045840 9.72 IGF1 IGF2 INS
13 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.72 GH1 GHR IGF1 IGF2 INS
14 cellular protein metabolic process GO:0044267 9.7 IGF1 IGF2 IGFBP1 IGFBP3 INS MEN1
15 positive regulation of JAK-STAT cascade GO:0046427 9.69 GH1 GHR PRL
16 positive regulation of glycolytic process GO:0045821 9.67 IGF1 INS
17 insulin-like growth factor receptor signaling pathway GO:0048009 9.67 GHR IGF1
18 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.67 GH1 GHR IGF1
19 positive regulation of insulin receptor signaling pathway GO:0046628 9.66 IGF2 INS
20 positive regulation of hormone secretion GO:0046887 9.65 GHRH GHRHR
21 positive regulation of glycogen biosynthetic process GO:0045725 9.65 IGF1 IGF2 INS
22 adenohypophysis development GO:0021984 9.64 GHRH GHRHR
23 growth hormone receptor signaling pathway GO:0060396 9.63 GH1 GHR
24 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.63 GH1 GHR PRL
25 negative regulation of feeding behavior GO:2000252 9.62 INS TRH
26 somatostatin signaling pathway GO:0038170 9.61 SSTR2 SSTR5
27 positive regulation of growth hormone secretion GO:0060124 9.61 GHRH GHRHR GHRL
28 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 9.59 GHRHR GHRL
29 growth hormone secretion GO:0030252 9.58 GHRH GHRHR GHRL
30 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.54 GHRHR IGFBP1 IGFBP3
31 positive regulation of multicellular organism growth GO:0040018 9.35 GH1 GHR GHRH GHRHR GHRL
32 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.02 GH1 GHRH GHRHR IGF1 IGFBP3
33 signal transduction GO:0007165 10.27 AIP GHRHR GNAS GPR101 IGF1 IGFBP1
34 G-protein coupled receptor signaling pathway GO:0007186 10.14 GHRHR GHRL GNAS GPR101 INS SST
35 positive regulation of cell proliferation GO:0008284 10.06 GHRH GHRHR IGF1 IGF2 INS PRL
36 negative regulation of cell proliferation GO:0008285 10.03 IGFBP3 MEN1 SST SSTR2 SSTR5

Molecular functions related to Acromegaly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 9.54 GHRHR IGFBP1 IGFBP3
2 insulin receptor binding GO:0005158 9.5 IGF1 IGF2 INS
3 insulin-like growth factor I binding GO:0031994 9.46 IGFBP1 IGFBP3
4 insulin-like growth factor II binding GO:0031995 9.43 IGFBP1 IGFBP3
5 somatostatin receptor activity GO:0004994 9.4 SSTR2 SSTR5
6 hormone activity GO:0005179 9.28 GH1 GHRL IGF1 IGF2 INS POMC
7 prolactin receptor binding GO:0005148 9.26 GH1 PRL
8 insulin-like growth factor receptor binding GO:0005159 9.26 GNAS IGF1 IGF2 INS
9 growth hormone-releasing hormone activity GO:0016608 9.16 GHRH GHRL

Sources for Acromegaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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