MCID: ACR007
MIFTS: 71

Acromegaly

Categories: Endocrine diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Acromegaly

MalaCards integrated aliases for Acromegaly:

Name: Acromegaly 12 74 52 58 36 54 43 15 17 71
Somatotroph Adenoma 52 29 6
Growth Hormone Excess 52 29
Growth Hormone-Secreting Pituitary Adenoma 71
Pituitary Giant 52

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


Summaries for Acromegaly

NIH Rare Diseases : 52 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 .

MalaCards based summary : Acromegaly, also known as somatotroph adenoma, is related to pituitary adenoma 1, multiple types and gigantism. 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 lanreotide and Metformin have been mentioned in the context of this disorder. Affiliated tissues include limb, pituitary and bone, and related phenotypes are osteoarthritis and hyperhidrosis

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

KEGG : 36 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.

Wikipedia : 74 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 727)
# Related Disease Score Top Affiliating Genes
1 pituitary adenoma 1, multiple types 34.0 SST PRL MEN1 IGFBP3 IGF1 GH1
2 gigantism 33.1 PRL GPR101 GHRH GH1 AIP
3 familial isolated pituitary adenoma 33.0 MEN1 AIP
4 pituitary tumors 32.5 SSTR5 SST PRL POMC MEN1 IGF1
5 mccune-albright syndrome 32.5 SST PRL MEN1 IGFBP3 IGF1 GNAS
6 carney complex variant 32.2 SST PRL POMC MEN1 IGF1 GPR101
7 sleep apnea 31.6 INS IGF1 GHRL
8 galactorrhea 31.6 PRL IGF1
9 pituitary adenoma, prolactin-secreting 31.5 TRH SSTR5 SSTR2 SSTR1 SST PRL
10 hypogonadism 31.5 PRL INS IGF1 GH1
11 diabetes insipidus 31.4 PRL POMC INS GH1
12 goiter 31.3 TRH SST PRL INS IGF1 GNAS
13 hyperglycemia 31.3 SST INS IGF1 GHRL GH1
14 insulin-like growth factor i 31.3 SST PRL INS IGFBP3 IGFBP1 IGF2
15 hypopituitarism 31.2 TRH PRL POMC INS IGFBP3 IGF1
16 apnea, obstructive sleep 31.2 INS IGF1 GHRL
17 adenoma 31.1 SSTR5 SSTR2 SST PRL POMC MEN1
18 fibrous dysplasia 31.1 SST PRL IGF1 GNAS GHRH GH1
19 dwarfism 31.1 GHRH GHR GH1
20 gangliocytoma 31.1 PRL POMC GHRH
21 glucose intolerance 31.0 POMC INS IGFBP3 IGFBP1 IGF1 GHRL
22 graves disease 1 31.0 TRH POMC INS
23 acanthosis nigricans 31.0 PRL INS IGF1 GH1
24 amenorrhea 31.0 TRH PRL POMC INS IGF1 GHRL
25 chromophobe adenoma 31.0 TRH PRL POMC GH1
26 hyperprolactinemia 31.0 TRH SST PRL POMC INS IGF1
27 hypothyroidism, congenital, nongoitrous, 4 30.8 PRL POMC GH1
28 hypoadrenalism 30.8 POMC GH1
29 fibrous dysplasia/mccune-albright syndrome 30.8 PRL GNAS GH1
30 central precocious puberty 30.8 IGF1 GH1
31 impotence 30.8 PRL POMC INS
32 pituitary apoplexy 30.8 SST PRL POMC MEN1 INS IGF1
33 irritable bowel syndrome 30.7 SST POMC GHRL
34 carcinoid tumors, intestinal 30.7 SSTR2 SST MEN1
35 diffuse idiopathic skeletal hyperostosis 30.7 INS IGFBP3 IGF1
36 thyroiditis 30.7 TRH PRL INS
37 non-functioning pituitary adenoma 30.7 SST GHR GH1
38 secondary adrenal insufficiency 30.6 INS IGFBP3 IGF1
39 parathyroid adenoma 30.6 MEN1 IGF1 GNAS
40 sleep disorder 30.6 PRL POMC INS IGF1 GHRL
41 pituitary adenoma 30.6 TRH SSTR5 SSTR2 SST PRL POMC
42 lymphocytic hypophysitis 30.6 POMC GH1
43 empty sella syndrome 30.6 TRH PRL POMC INS IGFBP3 IGF1
44 hyperthyroidism 30.6 TRH SST PRL POMC INS IGF1
45 neurofibromatosis, type ii 30.5 PRL POMC INS IGF1
46 hyperinsulinism 30.5 SST INS IGFBP3 IGFBP1 IGF2 IGF1
47 zollinger-ellison syndrome 30.5 SST MEN1 GHRH
48 isolated growth hormone deficiency 30.5 POMC IGF1 GPR101 GHRH GHR GH1
49 microvascular complications of diabetes 1 30.5 SST INS IGFBP3 IGF1
50 colorectal adenoma 30.5 INS IGFBP3 IGF2 IGF1

Graphical network of the top 20 diseases related to Acromegaly:



Diseases related to Acromegaly

Symptoms & Phenotypes for Acromegaly

Human phenotypes related to Acromegaly:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
2 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
3 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
4 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
5 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
6 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
7 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
8 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
9 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
10 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
11 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
12 anterior hypopituitarism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000830
13 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
14 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
15 growth hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0000845
16 pituitary growth hormone cell adenoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0011760
17 long penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000040
18 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
19 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
20 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
21 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
22 macrodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004099
23 broad foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001769
24 deep plantar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0001869
25 cortical diaphyseal thickening of the upper limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003859
26 deep palmar crease 58 31 hallmark (90%) Very frequent (99-80%) HP:0006191
27 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
28 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
29 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
30 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
31 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
32 sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0010535
33 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
34 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
35 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
36 hypogonadotrophic hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000044
37 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
38 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
39 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
40 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
41 spinal canal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0003416
42 hoarse voice 58 31 frequent (33%) Frequent (79-30%) HP:0001609
43 cerebral palsy 58 31 frequent (33%) Frequent (79-30%) HP:0100021
44 abnormal toenail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008388
45 broad jaw 58 31 frequent (33%) Frequent (79-30%) HP:0012802
46 dysmenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0100607
47 abnormal fingernail morphology 31 frequent (33%) HP:0001231
48 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
49 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
50 acne 58 31 occasional (7.5%) Occasional (29-5%) HP:0001061

GenomeRNAi Phenotypes related to Acromegaly according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 GHR GHRL GNAS IGF1 IGF2 IGFBP3

MGI Mouse Phenotypes related to Acromegaly:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 AIP GHR GHRH GHRL GNAS GPR101
2 behavior/neurological MP:0005386 10.31 GHR GHRH GHRL GNAS IGF2 IGFBP3
3 endocrine/exocrine gland MP:0005379 10.3 AIP GHR GHRH GHRL GNAS IGF1
4 growth/size/body region MP:0005378 10.25 AIP GHR GHRH GNAS IGF1 IGF2
5 cardiovascular system MP:0005385 10.22 AIP GHR GNAS GPR101 IGF1 IGF2
6 adipose tissue MP:0005375 10.11 GHR GHRH GHRL GNAS IGF1 IGFBP3
7 immune system MP:0005387 10.11 GHR GHRH GNAS IGF1 IGF2 IGFBP1
8 liver/biliary system MP:0005370 10 AIP GHR GHRH GNAS IGF2 IGFBP1
9 integument MP:0010771 9.97 AIP GHR GNAS IGF1 IGF2 IGFBP3
10 nervous system MP:0003631 9.97 GHR GHRH GNAS IGF1 IGF2 INS
11 renal/urinary system MP:0005367 9.5 GHR GNAS IGF1 IGF2 INS POMC
12 skeleton MP:0005390 9.28 GHR GHRH GNAS IGF1 IGF2 IGFBP3

Drugs & Therapeutics for Acromegaly

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

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2
Metformin Approved Phase 4 657-24-9 4091 14219
3
Liraglutide Approved Phase 4 204656-20-2 44147092
4
Cabergoline Approved Phase 4 81409-90-7 54746
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Octreotide Approved, Investigational Phase 4 83150-76-9 6400441 383414
7
Lactitol Investigational Phase 4 585-88-6, 585-86-4 493591
8 Angiopeptin Phase 4
9 Protective Agents Phase 4
10 Incretins Phase 4
11 HIV Protease Inhibitors Phase 4
12
protease inhibitors Phase 4
13 Dipeptidyl-Peptidase IV Inhibitors Phase 4
14 Sitagliptin Phosphate Phase 4
15 Dopamine Agents Phase 4
16 Dopamine agonists Phase 4
17 Neurotransmitter Agents Phase 4
18 Antiparkinson Agents Phase 4
19 Gastrointestinal Agents Phase 4
20 Antineoplastic Agents, Hormonal Phase 4
21 Liver Extracts Phase 4
22
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
23
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
24
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
25
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
26
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 6221 5280795
27 Ergocalciferols Phase 3
28 Calciferol Phase 3
29 Vitamin D2 Phase 3
30 Complement Factor I Phase 3
31 Carboxymethylcellulose Sodium Phase 3
32 Edotreotide Phase 3
33 Hormone Antagonists Phase 3
34 Hormones Phase 3
35
Prochlorperazine Approved, Vet_approved Phase 1, Phase 2 58-38-8, 1984-02-6 4917
36
Dimenhydrinate Approved Phase 2 523-87-5 441281
37
Histamine Approved, Investigational Phase 2 51-45-6 774
38
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
39
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
40
Enclomiphene Investigational Phase 2 15690-57-0
41 Ethinyl estradiol, levonorgestrel drug combination Phase 2
42 Autonomic Agents Phase 1, Phase 2
43 Dopamine Antagonists Phase 1, Phase 2
44 Central Nervous System Depressants Phase 1, Phase 2
45 Tranquilizing Agents Phase 1, Phase 2
46 Antipsychotic Agents Phase 1, Phase 2
47 Psychotropic Drugs Phase 1, Phase 2
48 Anticoagulants Phase 2
49 Fertility Agents Phase 2
50 Selective Estrogen Receptor Modulators Phase 2

Interventional clinical trials:

(show top 50) (show all 202)
# Name Status NCT ID Phase Drugs
1 Changes of Left Ventricular Mass and Cardiac Function in Patients With Active Acromegaly During Treatment With the Growth Hormone Receptor Antagonist Pegvisomant: an Open-labelled, Prospective Study Unknown status NCT00552851 Phase 4 pegvisomant
2 Efficacy and Safety of Pasireotide Long Acting Release (LAR) in Combination With Weekly Pegvisomant in Previously Controlled Acromegaly Patients on Combination Treatment of Long-Acting Somatostatin Analogues and Weekly Pegvisomant Unknown status NCT02668172 Phase 4 Pasireotide LAR 60 mg;Pegvisomant
3 Metabolic, Cardiovascular and Body Composition Effects of Sandostatin LAR® Therapy of Acromegaly, Effect of Reduction of Serum Insulin-like Growth Factor 1 (IGF-1) Levels Into a New Normative Range Unknown status NCT01424241 Phase 4 Sandostatin LAR
4 Long-term (up to 3 Years) Clinical and Hormonal Outcomes in Acromegalic Patients With Treated Surgery With or Without Long Acting Somatostatin Analogues: Open-labeled, Prospective, Parallel Group Study Unknown status NCT02427295 Phase 4 Sandostatin (Octreotide Acetate)
5 A Study To Compare The Efficacy And Safety Of Pegvisomant To That Of Sandostatin Lar Depot In Patients With Acromegaly Completed NCT00068042 Phase 4 Pegvisomant;Sandostatin LAR
6 A Phase IV, Open-label, Single Group Study to Evaluate the Dosing, Efficacy and Safety of Lanreotide Autogel® in Patients With Acromegaly Previously Treated With Octreotide LAR Completed NCT00216398 Phase 4 Lanreotide (Autogel formulation)
7 Octreotide Efficacy and Safety in First-line Acromegalic Patients Completed NCT00171886 Phase 4 Octreotide
8 A Phase IV, Multicentre, Open Label, Controlled Study to Assess the Ability of Patients With Acromegaly, or Their Partners, to Administer Somatuline Autogel. Completed NCT00149188 Phase 4 Lanreotide (Autogel formulation)
9 Study to Determine Whether Ultrasound Guidance Improves Delivery and Efficacy of Intramuscular Injection of Long-Acting Octreotide in the Treatment of Acromegaly Completed NCT00552071 Phase 4 Octreotide LAR 30 MG Injection
10 A Multi-Center, Open-Label Study For The Compassionate Use Of Pegvisomant In Acromegalic Patients Refractory To Conventional Therapy and For Patients Who Received The Product During The Clinical Development Program. Completed NCT00151437 Phase 4 Pegvisomant treatment
11 A Randomized, Parallel Group, Three-Arm Study To Evaluate Treatment With A Combination Of Pegvisomant Plus Sandostatin Lar, Pegvisomant (Alone), And Sandostatin Lar (Alone) In Patients With Acromegaly Completed NCT00068029 Phase 4 Pegvisomant/ Sandostatin LAR;Sandostatin LAR;Pegvisomant
12 The Effect of Acute Application of Pegvisomant Alone and in Combination With Octreotide on Endogenous GH Levels During a 6 Hour Test in Patients With Acromegaly on Constant Pegvisomant Treatment Completed NCT00595140 Phase 4 pegvisomant;combination with somatostatin analogue octreotide;combination with dopamine agonist cabergoline
13 A Multicenter, Single Arm, Proof of Concept Study to Investigate the Efficacy of an 8 Month Combination Therapy of Octreotide and Cabergoline in Acromegalic Patients Only Partially Responsive to Somatostatin Analog Monotherapy Completed NCT00376064 Phase 4 Octreotide acetate and cabergoline/Octrotide and Somavert
14 Treatment of Acromegaly With Somatostatin Analogs: GH vs. IGF-I as Primary Biochemical Target Completed NCT01618513 Phase 4 Sandostatin® LAR
15 A Prospective, International, Multi-centric, Open-label Study to Assess the Efficacy of an Extended Injection Interval Schedule of Lanreotide Autogel 120 mg in Acromegalic Subjects Who Are Biochemically Controlled on the Long Term Treatment With Octreotide LAR 10 or 20 mg Completed NCT00701363 Phase 4 Lanreotide Autogel 120 mg
16 Preoperative Octreotide Treatment of Patients With Growth Hormone Producing Pituitary Adenomas Completed NCT00521300 Phase 4 Octreotide
17 Does Surgical Debulking Of Pituitary Adenomas Improve Responsiveness To Octreotide LAR In The Treatment Of Acromegaly: An Investigator-Initiated Study Completed NCT01371643 Phase 4 Octreotide LAR
18 An Open-label, Two-step, Multicenter European 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 Not Adequately Controlled by Conventional Regimen Completed NCT01278342 Phase 4 Sandostatin LAR;pegvisomant;cabergoline
19 Comparable Effects of Lanreotide Autogel and Octreotide LAR on GH, IGF-I Levels and Patient Satisfaction - A Twelve Month Randomized Cross-Over Study in Patients With Acromegaly Completed NCT00145405 Phase 4 Lanreotide Autogel and Octreotide LAR
20 A Multi-center, Randomized, Open-label, Phase IV Study to Investigate the Management of Pasireotide-induced Hyperglycemia With Incretin Based Therapy or Insulin in Adult Patients With Cushing's Disease or Acromegaly Completed NCT02060383 Phase 4 Pasireotide s.c.;Sitagliptin;Liraglutide;Insulin;Pasireotide LAR;Metformin
21 A Multicenter, Open, Prospective, Observational Study to Investigate the Effect of Lanreotide Autogel 120 mg on Control of GH and IGF-I Excess and Tumor Shrinkage in Newly Diagnosed Patients With Acromegaly Completed NCT00627796 Phase 4 Lanreotide-Autogel 120 mg
22 Beneficial Effect of Dose Escalation of Octreotide-LAR as First-Line Therapy in Patients With Resistant Acromegaly Completed NCT00461149 Phase 4 Octreotide-LAR
23 The Effects of Weekly Administration of 40 mg Pegvisomant or Placebo on Quality of Life and Insulin Sensitivity in Acromegalic Patients With Normal IGF-I Concentrations During Long-Term Treatment With Long-Acting Somatostatin Analogs Completed NCT00642720 Phase 4 Pegvisomant
24 An Open Label, Multi-center Pasireotide Roll-over Protocol for Patients Who Have Completed a Previous Novartis-sponsored Pasireotide Study and Are Judged by the Investigator to Benefit From Continued Pasireotide Treatment Recruiting NCT01794793 Phase 4 Pasireotide;Cabergoline;Pasireotide
25 A Pilot Study of Pre- and Post-operative Somatuline Depot Therapy in Acromegalic Patients Treated by Endonasal Endoscopic Surgery: Impact on Early Remission Rates and Perioperative Morbidity Terminated NCT01861717 Phase 4 lanreotide
26 Open Label Study Assessing the Efficacy and Safety of Octreotide Acetate in Patients With Acromegaly, With Micro or Macroadenomas Terminated NCT00242541 Phase 4 Octreotide acetate
27 Growth Hormone Therapy and Bone Quality in Pediatric Osteoporosis Unknown status NCT00757393 Phase 3 Vitamin D + Calcium + Exercise program + Humatrope
28 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
29 Long-Term Study of B2036-PEG in Acromegaly - Long Term Study With B2036-PEG - Completed NCT00143416 Phase 3 Pegvisomant
30 Safety and Efficacy of Long-acting Repeatable Octreotide Acetate for Injectable Suspension vs. Surgery in Treatment-naïve Patients With Acromegaly Completed NCT00225979 Phase 3 Octreotide LAR
31 Safety and Efficacy of Octreotide LAR in Treatment Naïve Acromegalic Patients Completed NCT00128232 Phase 3 Octreotide LAR
32 Phase III, Multicentre, Open Clinical Study on the Efficacy and Tolerability of a New Slow-release Formulation of Lanreotide (Autogel 120 mg) in Patients With Active Acromegaly Completed NCT00499993 Phase 3 lanreotide (Autogel formulation), duration of treatment 46-48 weeks
33 A Phase III, Prospective, Randomised, Open Label Study to Compare the Efficacy and Safety of Lanreotide Autogel® 60, 90 or 120 mg With Lanreotide 40 mg PR in Subjects With Active Acromegaly Completed NCT02493517 Phase 3 Lanreotide Autogel®;Lanreotide Acetate
34 A Multi Center Open Label Study to Assess the Ability of Subjects With Acromegaly or Their Partners to Administer Somatuline Autogel Completed NCT00447499 Phase 3 Somatuline Autogel (lanreotide acetate)
35 Phase III, Multicentre, Open Study to Assess the Efficacy and Safety of Lanreotide Autogel (60, 90 or 120 mg) in Acromegalic Patients Previously Treated or Not by Somatostatin Analogues. Completed NCT00210457 Phase 3 Lanreotide (Autogel formulation)
36 A Phase III, Multicenter, Randomized, Parallel-group Study to Assess the Efficacy and Safety of Double-blind Pasireotide LAR 40 mg and Pasireotide LAR 60 mg Versus Open-label Octreotide LAR or Lanreotide ATG in Patients With Inadequately Controlled Acromegaly Completed NCT01137682 Phase 3 Pasireotide;octreotide LAR 30mg;lanreotide ATG 120mg
37 A Phase III, Multicentre, Open Label, Comparative, Dose-interval Titration Study Evaluating the Efficacy and Safety of Six Repeated Deep Subcutaneous Administrations of Lanreotide Autogel 120mg, in Acromegalic Patients Previously Treated With Octreotide LAR Completed NCT00444873 Phase 3 lanreotide (Autogel formulation), duration of treatment 24-56 weeks, depending on dose interval
38 A Randomised, Open-label, Multicenter Study Comparing the Efficacy and Safety of Medical Treatment With Octreotide Acetate 30 mg Administered Every 21 Days for 6 Months With That of Octreotide Acetate 60 mg Administered Every 28 Days for 6 Months in Acromegalic Patients With Uncontrolled Disease Completed NCT00372697 Phase 3 Octreotide acetate 30 mg suspension
39 Phase IIIb, Multicentre, Open-label, Single-arm, Study to Assess the Efficacy and Safety of Lanreotide Autogel 120 mg Administered Every 28 Days as Primary Medical Treatment in Acromegalic Patients With Macroadenoma Completed NCT00690898 Phase 3 Lanreotide autogel 120 mg
40 Open Label, Randomized Study Comparing the Biological Efficacy & Safety of a New Prolonged Release Formulation of Octreotide Acetate, C2L-OCT-01 PR, 30 mg Administered Every 42 Days for 84 Days With Sandostatin LAR 30 mg Administered Every 28 Days for 84 Days to Acromegalic Patients Completed NCT00616551 Phase 3 C2L-OCT-01 PR, 30 mg;Octreotide acetate prolonged release, 30 mg
41 Open Label Extension Study Evaluating the Safety and Biological Activity of a New Prolonged Release Formulation of Octreotide Acetate, C2L-OCT-01 PR, Administered Intra Muscularly Every 6, 5 or 4 Weeks in Acromegalic Patients Completed NCT00635765 Phase 3 C2L-OCT-01 PR 30 mg
42 Efficacy and Safety of Oral Octreolin™ in Patients With Acromegaly Who Are Currently Receiving Parenteral Somatostatin Analogs Completed NCT01412424 Phase 3 Octreotide capsules
43 A Multicenter, Randomized, Blinded Study to Assess Safety and Efficacy of Pasireotide LAR vs. Octreotide LAR in Patients With Active Acromegaly Completed NCT00600886 Phase 3 Pasireotide;Octreotide
44 Phase II, Multicentre, Randomized, Double-blind Study in Acromegalic Patients Evaluating the Efficacy and Safety of a Single Deep Subcutaneous Administration of Lanreotide Autogel (60, 90 or 120mg) Versus Placebo Followed by a Single Blind Fixed Dose Phase Evaluating the Pharmacokinetic, Pharmacodynamic, Efficacy and Safety Profile of Multiple Deep Subcutaneous Administrations of Lanreotide Autogel (60, 90 & 120mg) Ending in Open Label Dose Titration Phase. Completed NCT00234572 Phase 2, Phase 3 Lanreotide (Autogel formulation)
45 Phase III, Multicentre, Open Study to Assess the Efficacy and Safety Profiles of the Co-administration of Lanreotide Autogel 120 mg (Administered Via Deep Subcutaneous Injections Every 28 Days) and Pegvisomant 40 to 120 mg Per Week (Administered Via Subcutaneous Route Once or Twice a Week) in Acromegalic Patients Failing to Respond to Lanreotide Autogel 120 mg Alone Completed NCT00383708 Phase 3 lanreotide (Autogel formulation);Pegvisomant
46 A Phase IIIb Multicenter, Open-label, Single Arm Study to Evaluate the Efficacy and Safety of Pasireotide in Patients With Acromegaly Inadequately Controlled With First Generation Somatostatin Analogues Completed NCT02354508 Phase 3 Pasireotide LAR
47 An Open-Label Phase 3 Study of the Safety and Efficacy of Pegvisomant in Children With Growth Hormone Excess Recruiting NCT03882034 Phase 3 Pegvisomant
48 A Phase 3, Randomized, Double-blind, Placebo-controlled, Multi-center Trial to Assess Efficacy and Safety of Octreotide Subcutaneous Depot (CAM2029) in Patients With Acromegaly Recruiting NCT04076462 Phase 3 CAM2029 (octreotide subcutaneous depot);Matching placebo
49 A Phase 3, Open-label, Single-arm, Multi-center Trial to Assess the Long-term Safety of Octreotide Subcutaneous Depot (CAM2029) in Patients With Acromegaly Recruiting NCT04125836 Phase 3 CAM2029 (octreotide subcutaneous depot)
50 Strict IGF-1 Control in Acromegaly (I-Con Study) Recruiting NCT02952885 Phase 3 Pegvisomant

Search NIH Clinical Center for Acromegaly

Inferred drug relations via UMLS 71 / NDF-RT 50 :


2-Bromoergocryptine Mesylate
Bromocriptine
lanreotide
Octreotide
Octreotide Acetate
pegvisomant

Cochrane evidence based reviews: acromegaly

Genetic Tests for Acromegaly

Genetic tests related to Acromegaly:

# Genetic test Affiliating Genes
1 Somatotroph Adenoma 29 AIP
2 Growth Hormone Excess 29

Anatomical Context for Acromegaly

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

19
Limb

MalaCards organs/tissues related to Acromegaly:

40
Pituitary, Bone, Testes, Thyroid, Heart, Colon, Skin

Publications for Acromegaly

Articles related to Acromegaly:

(show top 50) (show all 7932)
# Title Authors PMID Year
1
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. 61 54 6
17360484 2007
2
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. 61 6
27245663 2016
3
Gigantism, acromegaly, and GPR101 mutations. 61 6
25806920 2015
4
Gigantism, acromegaly, and GPR101 mutations. 61 6
25806919 2015
5
Gigantism, acromegaly, and GPR101 mutations. 61 6
25806921 2015
6
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. 61 6
25470569 2014
7
AIP mutation in pituitary adenomas in the 18th century and today. 6 61
21208107 2011
8
The genetic background of acromegaly. 52 61
28161730 2017
9
AIP-Related Familial Isolated Pituitary Adenomas 6
22720333 2012
10
Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. 6
17299063 2007
11
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. 6
17244780 2007
12
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. 6
16728643 2006
13
New information concerning the Irish giant. 6
5320367 1965
14
IGF-I stimulates reactive oxygen species (ROS) production and inhibits insulin-dependent glucose uptake via ROS in 3T3-L1 adipocytes. 61 54
20185348 2010
15
Acromegaly is associated with an increased prevalence of colonic diverticula: a case-control study. 54 61
20215398 2010
16
Skin reaction and fever after treatment with pegvisomant in a patient with acromegaly. 54 61
20206782 2010
17
The current status of IGF-I assays--a 2009 update. 61 54
19818658 2010
18
Dose optimization of somatostatin analogues for acromegaly patients. 61 54
20348838 2010
19
Tumor volume of growth hormone-secreting pituitary adenomas during treatment with pegvisomant: a prospective multicenter study. 61 54
19965922 2010
20
Reduction of elevated IGF-1 levels in coincident amyotrophic lateral sclerosis and acromegaly. 61 54
19634028 2010
21
Evolution of an aggressive prolactinoma into a growth hormone secreting pituitary tumor coincident with GNAS gene mutation. 54 61
19890024 2010
22
Associations between body composition, circulating interleukin-1 receptor antagonist, osteocalcin, and insulin metabolism in active acromegaly. 61 54
19880791 2010
23
The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly. 61 54
19850678 2010
24
Discordant nadir GH after oral glucose and IGF-I levels on treated acromegaly: refining the biochemical markers of mild disease activity. 61 54
19798623 2010
25
A Canadian multi-centre, open-label long-term study of Pegvisomant treatment in refractory acromegaly. 61 54
20003832 2009
26
From somatostatin to octreotide LAR: evolution of a somatostatin analogue. 54 61
19842996 2009
27
The exon-3 deleted growth hormone receptor polymorphism predisposes to long-term complications of acromegaly. 54 61
19864451 2009
28
Influence of disease control with pegvisomant on sleep apnoea and tongue volume in patients with active acromegaly. 61 54
19773369 2009
29
Comparison of pegvisomant and long-acting octreotide in patients with acromegaly naïve to radiation and medical therapy. 61 54
20009494 2009
30
Medical therapy of acromegaly: efficacy and safety of somatostatin analogues. 61 54
19852525 2009
31
A link between bone mineral density and serum adiponectin and visfatin levels in acromegaly. 54 61
19723758 2009
32
Effects of initial therapy for five years with somatostatin analogs for acromegaly on growth hormone and insulin-like growth factor-I levels, tumor shrinkage, and cardiovascular disease: a prospective study. 54 61
19622615 2009
33
Somatostatin analog and pegvisomant combination therapy for acromegaly. 61 54
19763127 2009
34
Long term effect of external pituitary irradiation on IGF1 levels in patients with acromegaly free of adjunctive treatment. 61 54
19661126 2009
35
Long-term results of stereotactic radiosurgery in secretory pituitary adenomas. 54 61
19509108 2009
36
[Treatment of pituitary adenomas]. 54 61
19758960 2009
37
[Outcome of somatostatin analogue treatment in acromegaly]. 61 54
19617182 2009
38
[AIP mutations in familial and sporadic pituitary adenomas: local experience and review of the literature]. 54 61
19883897 2009
39
D3 GH receptor polymorphism is not associated with IGF1 levels in untreated acromegaly. 61 54
19439509 2009
40
Monitoring of acromegaly: what should be performed when GH and IGF-1 levels are discrepant? 61 54
19226264 2009
41
Glucose tolerance and somatostatin analog treatment in acromegaly: a 12-month study. 61 54
19491229 2009
42
Significant tumour shrinkage after 12 months of lanreotide Autogel-120 mg treatment given first-line in acromegaly. 54 61
19094074 2009
43
Chronic growth hormone excess is associated with increased aldosterone: a study in patients with acromegaly and in growth hormone transgenic mice. 61 54
19491373 2009
44
Association between serum insulin-like growth factor (IGF) I and IGF binding protein-3 and lung function. 54 61
19401363 2009
45
Successful use of weekly pegvisomant administration in patients with acromegaly. 54 61
19411301 2009
46
Outcome of surgical intrasellar growth hormone tumor performed by a pituitary specialist surgeon in a developing country. 61 54
18440607 2009
47
Factors determining inadequate hypoglycaemia during insulin tolerance testing (ITT) after pituitary surgery. 54 61
19178524 2009
48
Pegvisomant improves insulin sensitivity and reduces overnight free fatty acid concentrations in patients with acromegaly. 54 61
19366854 2009
49
Cost-effectiveness of lanreotide Autogel in treatment algorithms of acromegaly. 54 61
19527094 2009
50
Lanreotide for the treatment of acromegaly. 54 61
19533047 2009

Variations for Acromegaly

ClinVar genetic disease variations for Acromegaly:

6 (show top 50) (show all 73) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AIP NM_003977.4(AIP):c.910C>T (p.Arg304Ter)SNV Pathogenic 4888 rs104894195 11:67258381-67258381 11:67490910-67490910
2 AIP NM_003977.4(AIP):c.40C>T (p.Gln14Ter)SNV Pathogenic 4886 rs104894194 11:67250669-67250669 11:67483198-67483198
3 AIP NM_003977.4(AIP):c.241C>T (p.Arg81Ter)SNV Pathogenic 41167 rs267606541 11:67254618-67254618 11:67487147-67487147
4 AIP NM_003977.4(AIP):c.721A>G (p.Lys241Glu)SNV Pathogenic 41200 rs267606573 11:67257862-67257862 11:67490391-67490391
5 AIP NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)duplication Pathogenic 41208 rs267606578 11:67258276-67258296 11:67490805-67490825
6 AIP NM_003977.4(AIP):c.811C>T (p.Arg271Trp)SNV Pathogenic 41210 rs267606579 11:67258282-67258282 11:67490811-67490811
7 MEN1 NM_000244.3(MEN1):c.1846T>A (p.Ter616Arg)SNV Pathogenic 446502 rs1565635212 11:64571808-64571808 11:64804336-64804336
8 AIP NM_003977.4(AIP):c.543del (p.Ile182fs)deletion Pathogenic/Likely pathogenic 4891 rs267606559 11:67257582-67257582 11:67490111-67490111
9 AIP NM_003977.4(AIP):c.469-1G>ASNV Pathogenic/Likely pathogenic 4887 rs267606555 11:67257508-67257508 11:67490037-67490037
10 AIP NM_003977.4(AIP):c.64C>T (p.Arg22Ter)SNV Pathogenic/Likely pathogenic 4894 rs121908357 11:67250693-67250693 11:67483222-67483222
11 AIP NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)deletion Pathogenic/Likely pathogenic 4889 rs267606567 11:67250695-67250700 11:67483224-67483229
12 AIP NM_003977.4(AIP):c.824dup (p.His275fs)duplication Pathogenic/Likely pathogenic 4890 rs267606580 11:67258295-67258295 11:67490824-67490824
13 AIP NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)SNV Pathogenic/Likely pathogenic 4892 rs121908356 11:67258275-67258275 11:67490804-67490804
14 AIP NM_003977.2(AIP):c.-1212_279+578deldeletion Likely pathogenic 41158 11:67249418-67255234 11:67481947-67487763
15 AIP NM_003977.4(AIP):c.166C>A (p.Arg56Ser)SNV Likely pathogenic 41165 rs267606538 11:67254543-67254543 11:67487072-67487072
16 AIP NM_003977.4(AIP):c.245_249del (p.Glu82fs)deletion Likely pathogenic 41168 rs267606542 11:67254621-67254625 11:67487150-67487154
17 AIP NM_003977.4(AIP):c.249G>T (p.Gly83=)SNV Likely pathogenic 41169 rs104895072 11:67254626-67254626 11:67487155-67487155
18 AIP NM_003977.4(AIP):c.250G>A (p.Glu84Lys)SNV Likely pathogenic 41170 rs267606543 11:67254627-67254627 11:67487156-67487156
19 AIP NM_003977.4(AIP):c.280-1G>ASNV Likely pathogenic 41171 rs267606544 11:67256737-67256737 11:67489266-67489266
20 AIP NM_003977.4(AIP):c.286_287del (p.Val96fs)deletion Likely pathogenic 41172 rs267606545 11:67256744-67256745 11:67489273-67489274
21 AIP NM_003977.4(AIP):c.2T>C (p.Met1Thr)SNV Likely pathogenic 41173 rs267606546 11:67250631-67250631 11:67483160-67483160
22 AIP NM_003977.4(AIP):c.308A>G (p.Lys103Arg)SNV Likely pathogenic 41174 rs267606548 11:67256766-67256766 11:67489295-67489295
23 AIP NM_003977.4(AIP):c.350del (p.Gly117fs)deletion Likely pathogenic 41175 rs267606549 11:67256808-67256808 11:67489337-67489337
24 AIP NM_003977.4(AIP):c.100-1025_279+357deldeletion Likely pathogenic 41161 11:67253452-67255013 11:67485981-67487542
25 AIP NM_003977.2(AIP):c.(?_1)_(*_?)deldeletion Likely pathogenic 41160
26 AIP NM_003977.4(AIP):c.3_4insC (p.Ala2fs)insertion Likely pathogenic 41177 rs267606547 11:67250632-67250633 11:67483161-67483162
27 AIP NM_003977.4(AIP):c.404del (p.His135fs)deletion Likely pathogenic 41178 rs267606551 11:67256862-67256862 11:67489391-67489391
28 AIP NM_003977.4(AIP):c.424C>T (p.Gln142Ter)SNV Likely pathogenic 41179 rs267606552 11:67256882-67256882 11:67489411-67489411
29 AIP NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del)deletion Likely pathogenic 41163 rs267606537 11:67254515-67254538 11:67487044-67487067
30 AIP NM_003977.4(AIP):c.468+1G>ASNV Likely pathogenic 41182 rs267606554 11:67256927-67256927 11:67489456-67489456
31 AIP NM_003977.4(AIP):c.469-2A>GSNV Likely pathogenic 41183 rs267606556 11:67257507-67257507 11:67490036-67490036
32 AIP NM_003977.4(AIP):c.490C>T (p.Gln164Ter)SNV Likely pathogenic 41185 rs104895073 11:67257530-67257530 11:67490059-67490059
33 AIP NM_003977.4(AIP):c.500del (p.Pro167fs)deletion Likely pathogenic 41186 rs267606557 11:67257540-67257540 11:67490069-67490069
34 AIP NM_003977.4(AIP):c.521_525del (p.Glu174fs)deletion Likely pathogenic 41187 rs267606558 11:67257557-67257561 11:67490086-67490090
35 AIP NM_003977.4(AIP):c.550C>T (p.Gln184Ter)SNV Likely pathogenic 41188 rs267606560 11:67257590-67257590 11:67490119-67490119
36 AIP NM_003977.4(AIP):c.584T>C (p.Val195Ala)SNV Likely pathogenic 41189 rs267606561 11:67257624-67257624 11:67490153-67490153
37 AIP NM_003977.4(AIP):c.715C>T (p.Gln239Ter)SNV Likely pathogenic 41199 rs267606571 11:67257856-67257856 11:67490385-67490385
38 AIP NM_003977.4(AIP):c.829G>C (p.Ala277Pro)SNV Likely pathogenic 41212 rs267606581 11:67258300-67258300 11:67490829-67490829
39 AIP NM_003977.4(AIP):c.854_857del (p.Gln285fs)deletion Likely pathogenic 41213 rs267606582 11:67258325-67258328 11:67490854-67490857
40 AIP NM_003977.4(AIP):c.721A>T (p.Lys241Ter)SNV Likely pathogenic 41201 rs267606573 11:67257862-67257862 11:67490391-67490391
41 AIP NM_003977.4(AIP):c.739_741TAC[1] (p.Tyr248del)short repeat Likely pathogenic 41202 rs267606574 11:67257883-67257885 11:67490412-67490414
42 AIP NM_003977.3(AIP):c.74_81delTCCCGGACins7indel Likely pathogenic 41203 11:67250703-67250710 11:67483232-67483239
43 AIP NM_003977.4(AIP):c.769A>G (p.Ile257Val)SNV Likely pathogenic 41204 rs267606575 11:67257910-67257910 11:67490439-67490439
44 AIP NM_003977.4(AIP):c.601A>T (p.Lys201Ter)SNV Likely pathogenic 41191 rs267606563 11:67257641-67257641 11:67490170-67490170
45 AIP NM_003977.4(AIP):c.646G>T (p.Glu216Ter)SNV Likely pathogenic 41193 rs267606565 11:67257787-67257787 11:67490316-67490316
46 AIP NM_003977.4(AIP):c.649C>T (p.Gln217Ter)SNV Likely pathogenic 41194 rs267606566 11:67257790-67257790 11:67490319-67490319
47 AIP NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer)duplication Likely pathogenic 41195 rs104895075 11:67257803-67257803 11:67490332-67490332
48 AIP NM_003977.4(AIP):c.70G>T (p.Glu24Ter)SNV Likely pathogenic 41196 rs267606568 11:67250699-67250699 11:67483228-67483228
49 AIP NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)SNV Likely pathogenic 41197 rs267606569 11:67257854-67257854 11:67490383-67490383
50 AIP NM_003977.4(AIP):c.803A>G (p.Tyr268Cys)SNV Likely pathogenic 41206 rs267606577 11:67258274-67258274 11:67490803-67490803

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 TRH SSTR5 SSTR2 SSTR1 SST POMC
2
Show member pathways
13.39 PRL INS IGF2 IGF1 GNAS GHRH
3
Show member pathways
13.32 TRH SSTR5 SSTR2 SSTR1 SST PRL
4
Show member pathways
12.9 INS IGF2 IGF1 GNAS GHRH GH1
5
Show member pathways
12.81 PRL INS IGF2 IGF1 GNAS GHR
6
Show member pathways
12.24 IGFBP3 IGFBP1 IGF2 IGF1
7
Show member pathways
12.06 POMC INS IGF1 GHRL GH1
8
Show member pathways
12 SSTR5 SSTR2 SSTR1 SST POMC IGFBP3
9 11.83 SSTR5 SSTR2 SSTR1 SST POMC GNAS
10 11.54 IGF2 IGF1 GNAS GHRH GH1
11 11.48 IGF2 IGF1 GHR GH1
12 11.41 INS IGF2 IGF1
13 11.36 INS IGF1 GNAS
14
Show member pathways
11.27 PRL GHR GH1
15 10.94 IGFBP3 IGFBP1 IGF2 IGF1
16 10.87 IGF2 IGF1 GNAS GHRH GH1
17 10.76 PRL POMC INS GHRL

GO Terms for Acromegaly

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.77 MEN1 INS IGFBP3 IGFBP1 GHRL
2 extracellular space GO:0005615 9.73 SST PRL POMC INS IGFBP3 IGFBP1
3 extracellular region GO:0005576 9.47 TRH SST PRL POMC INS IGFBP3
4 insulin-like growth factor ternary complex GO:0042567 9.4 IGFBP3 IGF1
5 endosome lumen GO:0031904 9.33 PRL INS GH1
6 insulin-like growth factor binding protein complex GO:0016942 9.32 IGFBP3 IGF1
7 growth hormone receptor complex GO:0070195 9.26 GHR GH1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.04 PRL INS IGF2 IGF1 GHRH
2 negative regulation of cell proliferation GO:0008285 9.97 SSTR5 SSTR2 SSTR1 SST MEN1 IGFBP3
3 G protein-coupled receptor signaling pathway GO:0007186 9.9 TRH SSTR5 SSTR2 SSTR1 SST POMC
4 positive regulation of MAPK cascade GO:0043410 9.86 INS IGFBP3 IGF2 IGF1
5 cell-cell signaling GO:0007267 9.85 TRH SST POMC INS GHRH
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.82 INS IGF1 GH1
7 insulin receptor signaling pathway GO:0008286 9.81 INS IGFBP1 IGF2
8 neuropeptide signaling pathway GO:0007218 9.81 SSTR5 SSTR2 SSTR1 POMC
9 cellular protein metabolic process GO:0044267 9.8 PRL MEN1 INS IGFBP3 IGFBP1 IGF2
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.79 IGF1 GHR GH1
11 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.78 SSTR5 SSTR2 SSTR1
12 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 IGF2 IGF1 GHR GH1
13 glucose metabolic process GO:0006006 9.77 INS IGF2 GHRL
14 response to nutrient levels GO:0031667 9.77 PRL GHRL GH1
15 signal transduction GO:0007165 9.77 TRH SSTR5 SSTR2 SSTR1 PRL POMC
16 hormone-mediated signaling pathway GO:0009755 9.74 TRH GHRL GHR
17 positive regulation of JAK-STAT cascade GO:0046427 9.72 PRL GHR GH1
18 positive regulation of mitotic nuclear division GO:0045840 9.71 INS IGF2 IGF1
19 regulation of multicellular organism growth GO:0040014 9.7 PRL IGF1 GHR
20 insulin-like growth factor receptor signaling pathway GO:0048009 9.65 IGF1 GHR
21 growth hormone receptor signaling pathway GO:0060396 9.63 GHR GH1
22 positive regulation of growth GO:0045927 9.63 GHRL GH1
23 positive regulation of growth hormone secretion GO:0060124 9.62 GHRL GHRH
24 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.62 IGFBP3 IGF1 GHRH GH1
25 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.61 IGFBP3 IGFBP1
26 positive regulation of glycogen biosynthetic process GO:0045725 9.61 INS IGF2 IGF1
27 negative regulation of feeding behavior GO:2000252 9.58 TRH INS
28 growth hormone secretion GO:0030252 9.58 GHRL GHRH
29 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.58 PRL GHR GH1
30 somatostatin signaling pathway GO:0038170 9.54 SSTR5 SSTR2 SSTR1
31 positive regulation of multicellular organism growth GO:0040018 9.02 IGF2 GHRL GHRH GHR GH1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.67 POMC GNAS GHRL
2 peptide binding GO:0042277 9.63 SSTR5 SSTR2 SSTR1
3 growth factor binding GO:0019838 9.61 IGFBP3 IGFBP1 GHR
4 insulin-like growth factor I binding GO:0031994 9.51 IGFBP3 IGFBP1
5 insulin receptor binding GO:0005158 9.5 INS IGF2 IGF1
6 insulin-like growth factor II binding GO:0031995 9.48 IGFBP3 IGFBP1
7 neuropeptide binding GO:0042923 9.43 SSTR5 SSTR2 SSTR1
8 growth hormone-releasing hormone activity GO:0016608 9.4 GHRL GHRH
9 prolactin receptor binding GO:0005148 9.37 PRL GH1
10 somatostatin receptor activity GO:0004994 9.33 SSTR5 SSTR2 SSTR1
11 hormone activity GO:0005179 9.28 TRH SST PRL POMC INS IGF2
12 insulin-like growth factor receptor binding GO:0005159 9.26 INS IGF2 IGF1 GNAS

Sources for Acromegaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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