MCID: ACR007
MIFTS: 70

Acromegaly

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

Aliases & Classifications for Acromegaly

MalaCards integrated aliases for Acromegaly:

Name: Acromegaly 12 73 20 58 36 54 44 15 17 70
Growth Hormone Excess 20 29
Growth Hormone-Secreting Pituitary Adenoma 70
Somatotroph Adenoma 20
Pituitary Giant 20

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

GARD : 20 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 growth hormone excess, 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 Metabolism of proteins. The drugs Metformin and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include limb, pituitary and thyroid, and related phenotypes are hyperhidrosis and macroglossia

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 : 73 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 731)
# Related Disease Score Top Affiliating Genes
1 pituitary adenoma 1, multiple types 32.6 SST PRL MEN1 IGFBP3 IGF1 GH1
2 gigantism 32.1 PRL GPR101 GHRH GH1 AIP
3 familial isolated pituitary adenoma 31.9 MEN1 AIP
4 pituitary tumors 31.6 SSTR5 SST PRL POMC MEN1 IGF1
5 mccune-albright syndrome 31.6 SST PRL MEN1 IGFBP3 IGF1 GNAS
6 sleep apnea 31.4 INS IGF1 GHRL
7 carney complex variant 31.4 SST PRL POMC MEN1 IGF1 GPR101
8 insulin-like growth factor i 31.3 SST PRL INS IGFBP3 IGFBP1 IGF2
9 galactorrhea 31.3 PRL IGF1
10 goiter 31.2 TRH SST PRL INS IGF1 GNAS
11 hypopituitarism 31.2 TRH PRL POMC INS IGFBP3 IGF1
12 diabetes insipidus 31.2 PRL POMC INS GH1
13 hyperglycemia 31.1 SST INS IGF1 GHRL GH1
14 adenoma 31.0 TRH SSTR5 SSTR2 SST PRL POMC
15 apnea, obstructive sleep 31.0 INS IGF1 GHRL
16 pituitary adenoma, prolactin-secreting 31.0 TRH SSTR5 SSTR2 SSTR1 SST PRL
17 fibrous dysplasia 30.9 SST PRL IGF1 GNAS GHRH GH1
18 hyperprolactinemia 30.9 TRH SST PRL POMC INS IGF1
19 carcinoid syndrome 30.9 SST MEN1 IGF1 GHRH
20 growth hormone secreting pituitary adenoma 30.9 SSTR5 SSTR2 SSTR1 SST PRL POMC
21 multiple endocrine neoplasia 30.9 SST POMC MEN1 GNAS AIP
22 glucose intolerance 30.9 SST PRL POMC INS IGFBP1 IGF1
23 amenorrhea 30.9 TRH PRL POMC INS IGF1 GHRL
24 pituitary adenoma 30.8 TRH SSTR5 SSTR2 SST PRL POMC
25 skin tag 30.8 INS IGFBP3 IGF1
26 gangliocytoma 30.8 PRL POMC GHRH
27 dwarfism 30.8 GHRH GHR GH1
28 central precocious puberty 30.8 IGFBP3 IGF1 GH1
29 graves disease 1 30.8 TRH POMC INS
30 acanthosis nigricans 30.8 PRL INS IGF1 GH1
31 pituitary apoplexy 30.8 SST PRL POMC MEN1 INS IGF1
32 chromophobe adenoma 30.8 TRH PRL POMC GH1
33 pituitary hormone deficiency, combined, 2 30.6 TRH PRL POMC IGF1 GHRH GHR
34 hypoglycemia 30.6 SST PRL POMC INS IGFBP3 IGFBP1
35 hypothyroidism, congenital, nongoitrous, 4 30.6 PRL POMC GH1
36 irritable bowel syndrome 30.6 SST POMC GHRL
37 impotence 30.6 PRL POMC INS
38 fibrous dysplasia/mccune-albright syndrome 30.6 PRL GNAS GH1
39 hyperthyroidism 30.5 TRH SST PRL POMC INS IGF1
40 hyperinsulinism 30.5 SST INS IGFBP3 IGFBP1 IGF2 IGF1
41 secondary adrenal insufficiency 30.5 INS IGFBP3 IGF1
42 carcinoid tumors, intestinal 30.5 SSTR2 SST MEN1
43 hypothyroidism 30.5 TRH SST PRL POMC INS IGFBP3
44 sleep disorder 30.5 PRL POMC INS IGF1 GHRL
45 neuroendocrine tumor 30.4 SSTR2 SST POMC MEN1 GHRL GHRH
46 empty sella syndrome 30.4 TRH PRL POMC INS IGFBP3 IGF1
47 diffuse idiopathic skeletal hyperostosis 30.4 INS IGFBP3 IGF1
48 parathyroid adenoma 30.4 MEN1 IGF1 GNAS
49 non-functioning pituitary adenoma 30.4 SST GHR GH1
50 nelson syndrome 30.3 SSTR5 SST PRL POMC

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 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
5 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
6 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
7 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
8 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
9 anterior hypopituitarism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000830
10 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
11 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
12 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
13 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
14 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
15 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
16 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
17 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
18 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
19 long penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000040
20 growth hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0000845
21 broad foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001769
22 deep plantar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0001869
23 cortical diaphyseal thickening of the upper limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003859
24 macrodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004099
25 deep palmar crease 58 31 hallmark (90%) Very frequent (99-80%) HP:0006191
26 pituitary growth hormone cell adenoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0011760
27 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
28 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
29 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
30 sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0010535
31 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
32 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
33 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
34 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
35 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
36 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
37 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
38 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
39 spinal canal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0003416
40 hoarse voice 58 31 frequent (33%) Frequent (79-30%) HP:0001609
41 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
42 cerebral palsy 58 31 frequent (33%) Frequent (79-30%) HP:0100021
43 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
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 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
48 acne 58 31 occasional (7.5%) Occasional (29-5%) HP:0001061
49 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
50 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.89 MEN1
2 Decreased viability GR00240-S-1 9.89 AIP SST
3 Decreased viability GR00249-S 9.89 GH1 GHRL IGFBP3 SSTR2 SSTR5
4 Decreased viability GR00381-A-1 9.89 GNAS SSTR5
5 Decreased viability GR00386-A-1 9.89 GNAS GPR101 POMC TRH
6 Decreased viability GR00402-S-2 9.89 GHRH IGFBP3 SSTR5
7 Reduced mammosphere formation GR00396-S 9.23 GHR GHRL GNAS IGF1 IGF2 IGFBP3

MGI Mouse Phenotypes related to Acromegaly:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 GHR GHRH GHRL GNAS IGF2 IGFBP3
2 homeostasis/metabolism MP:0005376 10.28 AIP GHR GHRH GHRL GNAS GPR101
3 endocrine/exocrine gland MP:0005379 10.25 AIP GHR GHRH GHRL GNAS IGF1
4 cardiovascular system MP:0005385 10.23 AIP GHR GHRH GNAS IGF1 IGF2
5 growth/size/body region MP:0005378 10.18 AIP GHR GHRH GNAS IGF1 IGF2
6 cellular MP:0005384 10.17 AIP GHR GNAS IGF1 IGF2 IGFBP1
7 adipose tissue MP:0005375 10.15 GHR GHRH GHRL GNAS IGF1 IGFBP3
8 immune system MP:0005387 10.03 GHR GHRH GNAS GPR101 IGF1 IGF2
9 integument MP:0010771 9.81 AIP GHR GNAS IGF1 IGF2 IGFBP3
10 liver/biliary system MP:0005370 9.7 AIP GHR GHRH GNAS IGF2 IGFBP1
11 nervous system MP:0003631 9.47 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 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Liraglutide Approved Phase 4 204656-20-2 44147092
3
Pasireotide Approved Phase 4 396091-73-9 9941444
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Cabergoline Approved Phase 4 81409-90-7 54746
6
lanreotide Approved Phase 4 108736-35-2
7
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
8
protease inhibitors Phase 4
9 Sitagliptin Phosphate Phase 4
10 Dipeptidyl-Peptidase IV Inhibitors Phase 4
11 Incretins Phase 4
12 HIV Protease Inhibitors Phase 4
13 Cardiotonic Agents Phase 4
14 Protective Agents Phase 4
15 Sympathomimetics Phase 4
16 Neurotransmitter Agents Phase 4
17 Dopamine Agents Phase 4
18 Dopamine agonists Phase 4
19 Antiparkinson Agents Phase 4
20 Hormones Phase 4
21 Angiopeptin Phase 4
22 Antineoplastic Agents, Hormonal Phase 4
23 Gastrointestinal Agents Phase 4
24 Liver Extracts Phase 4
25
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
26
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
27 insulin Phase 3
28 Insulin, Globin Zinc Phase 3
29 Carboxymethylcellulose Sodium Phase 3
30 Mitogens Phase 3
31 Pharmaceutical Solutions Phase 3
32
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
33
Dimenhydrinate Approved Phase 2 523-87-5 441281
34
Sodium citrate Approved, Investigational Phase 2 68-04-2
35
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
36
Enclomiphene Investigational Phase 2 15690-57-0
37 Adrenocorticotropic Hormone Phase 2
38 Vasodilator Agents Phase 2
39 Phosphodiesterase Inhibitors Phase 2
40 Phosphodiesterase 5 Inhibitors Phase 2
41 Ethinyl estradiol, levonorgestrel drug combination Phase 2
42 Citrate Phase 2
43 Estrogen Antagonists Phase 2
44 Estrogen Receptor Antagonists Phase 2
45 Clomiphene Phase 2
46 Estrogens Phase 2
47 Estrogen Receptor Modulators Phase 2
48 Zuclomiphene Phase 2
49
Lactitol Approved, Investigational Phase 1 585-86-4 157355
50
Arginine Investigational, Nutraceutical Phase 1 74-79-3 6322

Interventional clinical trials:

(show top 50) (show all 176)
# 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 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
3 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
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 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)
6 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
7 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
8 Treatment of Acromegaly With Somatostatin Analogs: GH vs. IGF-I as Primary Biochemical Target Completed NCT01618513 Phase 4 Sandostatin® LAR
9 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
10 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
11 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
12 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
13 Beneficial Effect of Dose Escalation of Octreotide-LAR as First-Line Therapy in Patients With Resistant Acromegaly Completed NCT00461149 Phase 4 Octreotide-LAR
14 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
15 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
16 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
17 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)
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 Preoperative Octreotide Treatment of Patients With Growth Hormone Producing Pituitary Adenomas Completed NCT00521300 Phase 4 Octreotide
20 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
21 Octreotide Efficacy and Safety in First-line Acromegalic Patients Completed NCT00171886 Phase 4 Octreotide
22 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
23 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
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 Active, not recruiting NCT01794793 Phase 4 Pasireotide;Cabergoline;Pasireotide
25 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
26 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
27 Efficacy and Safety of Oral Octreolin™ in Patients With Acromegaly Who Are Currently Receiving Parenteral Somatostatin Analogs Completed NCT01412424 Phase 3 Octreotide capsules
28 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
29 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
30 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
31 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
32 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
33 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
34 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
35 Long-Term Study of B2036-PEG in Acromegaly - Long Term Study With B2036-PEG - Completed NCT00143416 Phase 3 Pegvisomant
36 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
37 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)
38 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
39 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
40 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
41 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)
42 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
43 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
44 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)
45 Safety and Efficacy of Octreotide LAR in Treatment Naïve Acromegalic Patients Completed NCT00128232 Phase 3 Octreotide LAR
46 An Open-Label Phase 3 Study of the Safety and Efficacy of Pegvisomant in Children With Growth Hormone Excess Recruiting NCT03882034 Phase 3 Pegvisomant
47 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)
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, Randomized, Active Controlled Study to Evaluate Maintenance of Response, Safety and Patient Reported Outcomes in Acromegaly Patients Treated With Octreotide Capsules vs. Parenteral Somatostatin Receptor Ligands Active, not recruiting NCT02685709 Phase 3 Octreotide capsules;Injectable Somatostatin Analogs (octreotide or lanreotide);Cabergoline
50 Strict IGF-1 Control in Acromegaly (I-Con Study) Active, not recruiting NCT02952885 Phase 3 Pegvisomant

Search NIH Clinical Center for Acromegaly

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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 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, Thyroid, Bone, Heart, Kidney, Liver, Pancreas

Publications for Acromegaly

Articles related to Acromegaly:

(show top 50) (show all 8376)
# Title Authors PMID Year
1
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. 6 61 54
17360484 2007
2
Phenotypic and genotypic features of a large kindred with a germline AIP variant. 61 6
32324286 2020
3
Three Novel MEN1 Variants in AIP-Negative Familial Isolated Pituitary Adenoma Patients. 6 61
30630164 2019
4
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. 6 61
27245663 2016
5
Gigantism, acromegaly, and GPR101 mutations. 61 6
25806920 2015
6
Gigantism, acromegaly, and GPR101 mutations. 61 6
25806921 2015
7
Gigantism, acromegaly, and GPR101 mutations. 61 6
25806919 2015
8
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. 6 61
25470569 2014
9
AIP mutation in pituitary adenomas in the 18th century and today. 61 6
21208107 2011
10
Screening of AIP Gene Variations in a Cohort of Turkish Patients with Young-Onset Sporadic Hormone-Secreting Pituitary Adenomas. 6
30461320 2018
11
The genetic background of acromegaly. 61 20
28161730 2017
12
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. 6
17244780 2007
13
Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. 6
17299063 2007
14
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. 6
16728643 2006
15
New information concerning the Irish giant. 6
5320367 1965
16
IGF-I stimulates reactive oxygen species (ROS) production and inhibits insulin-dependent glucose uptake via ROS in 3T3-L1 adipocytes. 61 54
20185348 2010
17
Acromegaly is associated with an increased prevalence of colonic diverticula: a case-control study. 61 54
20215398 2010
18
Tumor volume of growth hormone-secreting pituitary adenomas during treatment with pegvisomant: a prospective multicenter study. 61 54
19965922 2010
19
Dose optimization of somatostatin analogues for acromegaly patients. 61 54
20348838 2010
20
The current status of IGF-I assays--a 2009 update. 61 54
19818658 2010
21
Skin reaction and fever after treatment with pegvisomant in a patient with acromegaly. 61 54
20206782 2010
22
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
23
The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly. 61 54
19850678 2010
24
Associations between body composition, circulating interleukin-1 receptor antagonist, osteocalcin, and insulin metabolism in active acromegaly. 61 54
19880791 2010
25
Reduction of elevated IGF-1 levels in coincident amyotrophic lateral sclerosis and acromegaly. 61 54
19634028 2010
26
Evolution of an aggressive prolactinoma into a growth hormone secreting pituitary tumor coincident with GNAS gene mutation. 54 61
19890024 2010
27
Influence of disease control with pegvisomant on sleep apnoea and tongue volume in patients with active acromegaly. 61 54
19773369 2009
28
Comparison of pegvisomant and long-acting octreotide in patients with acromegaly naïve to radiation and medical therapy. 61 54
20009494 2009
29
The exon-3 deleted growth hormone receptor polymorphism predisposes to long-term complications of acromegaly. 61 54
19864451 2009
30
A Canadian multi-centre, open-label long-term study of Pegvisomant treatment in refractory acromegaly. 61 54
20003832 2009
31
From somatostatin to octreotide LAR: evolution of a somatostatin analogue. 54 61
19842996 2009
32
Medical therapy of acromegaly: efficacy and safety of somatostatin analogues. 61 54
19852525 2009
33
A link between bone mineral density and serum adiponectin and visfatin levels in acromegaly. 54 61
19723758 2009
34
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. 61 54
19622615 2009
35
Long term effect of external pituitary irradiation on IGF1 levels in patients with acromegaly free of adjunctive treatment. 61 54
19661126 2009
36
Somatostatin analog and pegvisomant combination therapy for acromegaly. 54 61
19763127 2009
37
Long-term results of stereotactic radiosurgery in secretory pituitary adenomas. 54 61
19509108 2009
38
[Treatment of pituitary adenomas]. 61 54
19758960 2009
39
Glucose tolerance and somatostatin analog treatment in acromegaly: a 12-month study. 54 61
19491229 2009
40
D3 GH receptor polymorphism is not associated with IGF1 levels in untreated acromegaly. 61 54
19439509 2009
41
Significant tumour shrinkage after 12 months of lanreotide Autogel-120 mg treatment given first-line in acromegaly. 54 61
19094074 2009
42
[Outcome of somatostatin analogue treatment in acromegaly]. 54 61
19617182 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
Monitoring of acromegaly: what should be performed when GH and IGF-1 levels are discrepant? 54 61
19226264 2009
45
[AIP mutations in familial and sporadic pituitary adenomas: local experience and review of the literature]. 61 54
19883897 2009
46
Outcome of surgical intrasellar growth hormone tumor performed by a pituitary specialist surgeon in a developing country. 54 61
18440607 2009
47
Factors determining inadequate hypoglycaemia during insulin tolerance testing (ITT) after pituitary surgery. 54 61
19178524 2009
48
Association between serum insulin-like growth factor (IGF) I and IGF binding protein-3 and lung function. 61 54
19401363 2009
49
Pegvisomant improves insulin sensitivity and reduces overnight free fatty acid concentrations in patients with acromegaly. 61 54
19366854 2009
50
Successful use of weekly pegvisomant administration in patients with acromegaly. 54 61
19411301 2009

Variations for Acromegaly

ClinVar genetic disease variations for Acromegaly:

6 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AIP NM_003977.4(AIP):c.241C>T (p.Arg81Ter) SNV Pathogenic 41167 rs267606541 GRCh37: 11:67254618-67254618
GRCh38: 11:67487147-67487147
2 AIP NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) Duplication Pathogenic 41208 rs267606578 GRCh37: 11:67258273-67258274
GRCh38: 11:67490802-67490803
3 AIP NM_003977.4(AIP):c.811C>T (p.Arg271Trp) SNV Pathogenic 41210 rs267606579 GRCh37: 11:67258282-67258282
GRCh38: 11:67490811-67490811
4 AIP NM_003977.4(AIP):c.40C>T (p.Gln14Ter) SNV Pathogenic 4886 rs104894194 GRCh37: 11:67250669-67250669
GRCh38: 11:67483198-67483198
5 MEN1 NM_000244.3(MEN1):c.1846T>A (p.Ter616Arg) SNV Pathogenic 446502 rs1565635212 GRCh37: 11:64571808-64571808
GRCh38: 11:64804336-64804336
6 AIP NM_003977.4(AIP):c.910C>T (p.Arg304Ter) SNV Pathogenic 4888 rs104894195 GRCh37: 11:67258381-67258381
GRCh38: 11:67490910-67490910
7 AIP NM_003977.4(AIP):c.279+2T>C SNV Pathogenic 1032170 GRCh37: 11:67254658-67254658
GRCh38: 11:67487187-67487187
8 GPR101 NM_054021.2(GPR101):c.510G>A (p.Trp170Ter) SNV Pathogenic 997457 GRCh37: X:136113324-136113324
GRCh38: X:137031165-137031165
9 AIP NM_003977.4(AIP):c.721A>G (p.Lys241Glu) SNV Pathogenic 41200 rs267606573 GRCh37: 11:67257862-67257862
GRCh38: 11:67490391-67490391
10 AIP NM_003977.4(AIP):c.469-1G>A SNV Pathogenic/Likely pathogenic 4887 rs267606555 GRCh37: 11:67257508-67257508
GRCh38: 11:67490037-67490037
11 AIP NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) Deletion Pathogenic/Likely pathogenic 4889 rs267606567 GRCh37: 11:67250695-67250700
GRCh38: 11:67483224-67483229
12 AIP NM_003977.4(AIP):c.824dup (p.His275fs) Duplication Pathogenic/Likely pathogenic 4890 rs267606580 GRCh37: 11:67258294-67258295
GRCh38: 11:67490823-67490824
13 AIP NM_003977.4(AIP):c.543del (p.Ile182fs) Deletion Pathogenic/Likely pathogenic 4891 rs267606559 GRCh37: 11:67257582-67257582
GRCh38: 11:67490111-67490111
14 AIP NM_003977.4(AIP):c.64C>T (p.Arg22Ter) SNV Pathogenic/Likely pathogenic 4894 rs121908357 GRCh37: 11:67250693-67250693
GRCh38: 11:67483222-67483222
15 AIP NM_003977.2(AIP):c.-1212_279+578del Deletion Likely pathogenic 41158 GRCh37: 11:67249418-67255234
GRCh38: 11:67481947-67487763
16 AIP NM_003977.2(AIP):c.(?_1)_(*_?)del Deletion Likely pathogenic 41160 GRCh37:
GRCh38:
17 AIP NM_003977.4(AIP):c.100-1025_279+357del Deletion Likely pathogenic 41161 GRCh37: 11:67253423-67254984
GRCh38: 11:67485952-67487513
18 AIP NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) Deletion Likely pathogenic 41163 rs267606537 GRCh37: 11:67254515-67254538
GRCh38: 11:67487044-67487067
19 AIP NM_003977.4(AIP):c.245_249del (p.Glu82fs) Deletion Likely pathogenic 41168 rs267606542 GRCh37: 11:67254621-67254625
GRCh38: 11:67487150-67487154
20 AIP NM_003977.4(AIP):c.250G>A (p.Glu84Lys) SNV Likely pathogenic 41170 rs267606543 GRCh37: 11:67254627-67254627
GRCh38: 11:67487156-67487156
21 AIP NM_003977.4(AIP):c.280-1G>A SNV Likely pathogenic 41171 rs267606544 GRCh37: 11:67256737-67256737
GRCh38: 11:67489266-67489266
22 AIP NM_003977.4(AIP):c.286_287del (p.Val96fs) Deletion Likely pathogenic 41172 rs267606545 GRCh37: 11:67256744-67256745
GRCh38: 11:67489273-67489274
23 AIP NM_003977.4(AIP):c.2T>C (p.Met1Thr) SNV Likely pathogenic 41173 rs267606546 GRCh37: 11:67250631-67250631
GRCh38: 11:67483160-67483160
24 AIP NM_003977.4(AIP):c.350del (p.Gly117fs) Deletion Likely pathogenic 41175 rs267606549 GRCh37: 11:67256806-67256806
GRCh38: 11:67489335-67489335
25 AIP NM_003977.4(AIP):c.3_4insC (p.Ala2fs) Insertion Likely pathogenic 41177 rs267606547 GRCh37: 11:67250632-67250633
GRCh38: 11:67483161-67483162
26 AIP NM_003977.4(AIP):c.404del (p.His135fs) Deletion Likely pathogenic 41178 rs267606551 GRCh37: 11:67256862-67256862
GRCh38: 11:67489391-67489391
27 AIP NM_003977.4(AIP):c.424C>T (p.Gln142Ter) SNV Likely pathogenic 41179 rs267606552 GRCh37: 11:67256882-67256882
GRCh38: 11:67489411-67489411
28 AIP NM_003977.4(AIP):c.490C>T (p.Gln164Ter) SNV Likely pathogenic 41185 rs104895073 GRCh37: 11:67257530-67257530
GRCh38: 11:67490059-67490059
29 AIP NM_003977.4(AIP):c.500del (p.Pro167fs) Deletion Likely pathogenic 41186 rs267606557 GRCh37: 11:67257538-67257538
GRCh38: 11:67490067-67490067
30 AIP NM_003977.4(AIP):c.521_525del (p.Glu174fs) Deletion Likely pathogenic 41187 rs267606558 GRCh37: 11:67257557-67257561
GRCh38: 11:67490086-67490090
31 AIP NM_003977.4(AIP):c.550C>T (p.Gln184Ter) SNV Likely pathogenic 41188 rs267606560 GRCh37: 11:67257590-67257590
GRCh38: 11:67490119-67490119
32 AIP NM_003977.4(AIP):c.601A>T (p.Lys201Ter) SNV Likely pathogenic 41191 rs267606563 GRCh37: 11:67257641-67257641
GRCh38: 11:67490170-67490170
33 AIP NM_003977.4(AIP):c.646G>T (p.Glu216Ter) SNV Likely pathogenic 41193 rs267606565 GRCh37: 11:67257787-67257787
GRCh38: 11:67490316-67490316
34 AIP NM_003977.4(AIP):c.649C>T (p.Gln217Ter) SNV Likely pathogenic 41194 rs267606566 GRCh37: 11:67257790-67257790
GRCh38: 11:67490319-67490319
35 AIP NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) Duplication Likely pathogenic 41195 rs104895075 GRCh37: 11:67257799-67257800
GRCh38: 11:67490328-67490329
36 AIP NM_003977.4(AIP):c.70G>T (p.Glu24Ter) SNV Likely pathogenic 41196 rs267606568 GRCh37: 11:67250699-67250699
GRCh38: 11:67483228-67483228
37 AIP NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) SNV Likely pathogenic 41197 rs267606569 GRCh37: 11:67257854-67257854
GRCh38: 11:67490383-67490383
38 AIP NM_003977.4(AIP):c.715C>T (p.Gln239Ter) SNV Likely pathogenic 41199 rs267606571 GRCh37: 11:67257856-67257856
GRCh38: 11:67490385-67490385
39 AIP NM_003977.4(AIP):c.721A>T (p.Lys241Ter) SNV Likely pathogenic 41201 rs267606573 GRCh37: 11:67257862-67257862
GRCh38: 11:67490391-67490391
40 AIP NM_003977.4(AIP):c.739_741TAC[1] (p.Tyr248del) Microsatellite Likely pathogenic 41202 rs267606574 GRCh37: 11:67257880-67257882
GRCh38: 11:67490409-67490411
41 AIP NM_003977.3(AIP):c.74_81delTCCCGGACins7 Indel Likely pathogenic 41203 GRCh37: 11:67250703-67250710
GRCh38: 11:67483232-67483239
42 AIP NM_003977.4(AIP):c.468+1G>A SNV Likely pathogenic 41182 rs267606554 GRCh37: 11:67256927-67256927
GRCh38: 11:67489456-67489456
43 AIP NM_003977.4(AIP):c.469-2A>G SNV Likely pathogenic 41183 rs267606556 GRCh37: 11:67257507-67257507
GRCh38: 11:67490036-67490036
44 AIP NM_003977.4(AIP):c.166C>A (p.Arg56Ser) SNV Likely pathogenic 41165 rs267606538 GRCh37: 11:67254543-67254543
GRCh38: 11:67487072-67487072
45 AIP NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) SNV Likely pathogenic 4892 rs121908356 GRCh37: 11:67258275-67258275
GRCh38: 11:67490804-67490804
46 MEN1 NM_001370259.2(MEN1):c.*412G>A SNV Likely pathogenic 446503 rs972128957 GRCh37: 11:64571394-64571394
GRCh38: 11:64803922-64803922
47 AIP NM_003977.4(AIP):c.854_857del (p.Gln285fs) Deletion Likely pathogenic 41213 rs267606582 GRCh37: 11:67258324-67258327
GRCh38: 11:67490853-67490856
48 AIP NM_003977.4(AIP):c.919dup (p.Arg307fs) Duplication Likely pathogenic 41215 rs267606589 GRCh37: 11:67258389-67258390
GRCh38: 11:67490918-67490919
49 AIP NM_003977.4(AIP):c.878_879delinsGT (p.Glu293Gly) Indel Likely pathogenic 242673 rs267606583 GRCh37: 11:67258349-67258350
GRCh38: 11:67490878-67490879
50 AIP NM_003977.4(AIP):c.829G>C (p.Ala277Pro) SNV Likely pathogenic 41212 rs267606581 GRCh37: 11:67258300-67258300
GRCh38: 11:67490829-67490829

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 TRH SSTR5 SSTR2 SSTR1 SST POMC
2
Show member pathways
13.68 PRL POMC INS IGFBP3 IGFBP1 IGF2
3
Show member pathways
13.4 PRL INS IGF2 IGF1 GNAS GHRH
4
Show member pathways
13.22 TRH SSTR5 SSTR2 SSTR1 SST PRL
5
Show member pathways
12.91 INS IGF2 IGF1 GNAS GHRH GH1
6
Show member pathways
12.81 PRL INS IGF2 IGF1 GNAS GHR
7
Show member pathways
12.77 POMC MEN1 INS GNAS AIP
8
Show member pathways
12.71 INS IGFBP3 IGF1 GHR GH1
9
Show member pathways
12.63 PRL IGF2 IGF1 GNAS GHR GH1
10
Show member pathways
12.25 IGFBP3 IGFBP1 IGF2 IGF1
11
Show member pathways
12.22 SSTR5 SSTR2 SSTR1 SST IGFBP3 IGF1
12
Show member pathways
12.06 POMC INS IGF1 GHRL GH1
13 11.83 SSTR5 SSTR2 SSTR1 SST POMC GNAS
14 11.75 INS IGFBP3 IGF1
15 11.57 IGF2 IGF1 GNAS GHRH GH1
16 11.48 IGF2 IGF1 GHR GH1
17 11.44 INS IGF2 IGF1
18 11.41 INS IGF1 GNAS
19
Show member pathways
11.28 PRL GHR GH1
20 10.94 IGFBP3 IGFBP1 IGF2 IGF1
21 10.88 IGF2 IGF1 GNAS GHRH GH1
22 10.86 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 32)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.1 TRH SSTR5 SSTR2 SSTR1 PRL POMC
2 positive regulation of cell proliferation GO:0008284 10.05 PRL INS IGF2 IGF1 GHRH
3 negative regulation of cell proliferation GO:0008285 9.97 SSTR5 SSTR2 SSTR1 SST MEN1 IGFBP3
4 cell-cell signaling GO:0007267 9.88 TRH SST POMC INS GHRH
5 positive regulation of MAPK cascade GO:0043410 9.85 INS IGFBP3 IGF2 IGF1
6 neuropeptide signaling pathway GO:0007218 9.83 SSTR5 SSTR2 SSTR1 POMC
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.82 INS IGF1 GH1
8 insulin receptor signaling pathway GO:0008286 9.81 INS IGFBP1 IGF2
9 response to nutrient levels GO:0031667 9.8 PRL GHRL GH1
10 negative regulation of tumor necrosis factor production GO:0032720 9.8 POMC IGF1 GHRL
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.79 IGF1 GHR GH1
12 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.77 SSTR5 SSTR2 SSTR1
13 glucose metabolic process GO:0006006 9.77 INS IGF2 GHRL
14 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 IGF2 IGF1 GHR GH1
15 hormone-mediated signaling pathway GO:0009755 9.74 TRH GHRL GHR
16 positive regulation of JAK-STAT cascade GO:0046427 9.73 PRL GHR GH1
17 positive regulation of mitotic nuclear division GO:0045840 9.71 INS IGF2 IGF1
18 cellular protein metabolic process GO:0044267 9.7 PRL MEN1 INS IGFBP3 IGFBP1 IGF2
19 G protein-coupled receptor signaling pathway GO:0007186 9.7 TRH SSTR5 SSTR2 SSTR1 SST POMC
20 regulation of multicellular organism growth GO:0040014 9.69 PRL IGF1 GHR
21 insulin-like growth factor receptor signaling pathway GO:0048009 9.65 IGF1 GHR
22 growth hormone receptor signaling pathway GO:0060396 9.64 GHR GH1
23 positive regulation of growth GO:0045927 9.64 GHRL GH1
24 positive regulation of growth hormone secretion GO:0060124 9.61 GHRL GHRH
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 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.56 IGFBP3 IGF1 GHRH GH1
31 somatostatin signaling pathway GO:0038170 9.54 SSTR5 SSTR2 SSTR1
32 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 9.65 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 neuropeptide binding GO:0042923 9.5 SSTR5 SSTR2 SSTR1
6 insulin-like growth factor II binding GO:0031995 9.46 IGFBP3 IGFBP1
7 insulin receptor binding GO:0005158 9.43 INS IGF2 IGF1
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 9.32 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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