MCID: PTT049
MIFTS: 54

Pituitary Adenoma, Acth-Secreting

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Cancer diseases

Aliases & Classifications for Pituitary Adenoma, Acth-Secreting

MalaCards integrated aliases for Pituitary Adenoma, Acth-Secreting:

Name: Pituitary Adenoma, Acth-Secreting 54 13
Acth-Secreting Pituitary Adenoma 12 50 71 42 14 69
Cushing Disease 50 25 56 71
Pituitary Corticotroph Micro-Adenoma 50 56
Pituitary-Dependent Cushing Syndrome 50 56
Corticotroph Pituitary Adenoma 50 56
Pituitary-Dependant Hypercortisolism Disorder 25
Pituitary-Dependent Cushing's Disease 69
Pituitary Dependent Cushing Syndrome 50
Pituitary-Dependant Cushing Syndrome 25
Pituitary-Dependant Hypercortisolism 25
Pituitary-Dependent Cushings Disease 52
Acth-Producing Pituitary Adenoma 12
Pituitary Acth-Secreting Adenoma 13
Pituitary Acth Hypersecretion 25
Adrenal Gland Hyperfunction 69
Pituitary Cushing Syndrome 25
Pituitary Cushing Disease 71
Corticotroph Adenoma 12
Cushing's Disease 50
Cushing Syndrome 69
Hypercortisolism 25
Corticotropinoma 12
Aspa 71

Characteristics:

Orphanet epidemiological data:

56
cushing disease
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal recessive vs. dominant men1


Classifications:



Summaries for Pituitary Adenoma, Acth-Secreting

Genetics Home Reference : 25 Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this condition is usually weight gain around the trunk and in the face. Affected individuals may get stretch marks (striae) on their thighs and abdomen and bruise easily. Individuals with Cushing disease can develop a hump on their upper back caused by abnormal deposits of fat. People with this condition can have muscle weakness, severe tiredness, and progressively thin and brittle bones that are prone to fracture (osteoporosis). They also have a weakened immune system and are at an increased risk of infections. Cushing disease can cause mood disorders such as anxiety, irritability, and depression. This condition can also affect a person's concentration and memory. People with Cushing disease have an increased chance of developing high blood pressure (hypertension) and diabetes. Women with Cushing disease may experience irregular menstruation and have excessive hair growth (hirsutism) on their face, abdomen, and legs. Men with Cushing disease may have erectile dysfunction. Children with Cushing disease typically experience slow growth.

MalaCards based summary : Pituitary Adenoma, Acth-Secreting, also known as acth-secreting pituitary adenoma, is related to canavan disease and cushing's syndrome, and has symptoms including failure to thrive, visual impairment and acne. An important gene associated with Pituitary Adenoma, Acth-Secreting is USP8 (Ubiquitin Specific Peptidase 8), and among its related pathways/superpathways are Peptide ligand-binding receptors and G-Beta Gamma Signaling. The drugs Somatostatin and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and adrenal gland, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

Disease Ontology : 12 A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.

NIH Rare Diseases : 50 acth-secreting pituitary adenoma is a condition characterized by elevated levels of a hormone called cortisol secreted by a tumor in the pituitary gland. it is part of a group of diseases that cause cushing’s syndrome, characterized by signs and symptoms that may include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones that are prone to fracture (osteoporosis), mood disorders and memory problems, as well as an increased risk of infections, high blood pressure and diabetes. women may have irregular menses and a lot of hair in the body (hirsutism). it  occurs when a benign pituitary tumor (adenoma) or pituitary hyperplasia causes the adrenal glands to produce large amounts of cortisol.  some cases are caused by somatic mutations in the aip and the gnas genes. rarely, an acth-secreting pituitary adenoma can be inherited, either as an isolated condition or as part of a genetic syndrome (such as multiple endocrine neoplasia type 1 (men1) and familial isolated pituitary adenoma), but most cases are sporadic. treatment generally involves surgery to remove the tumor and medications to decrease cortisol levels. last updated: 12/16/2015

OMIM : 54
Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR; 131550) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017). (219090)

UniProtKB/Swiss-Prot : 71 ACTH-secreting pituitary adenoma: A pituitary adenoma resulting in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.

Related Diseases for Pituitary Adenoma, Acth-Secreting

Diseases related to Pituitary Adenoma, Acth-Secreting via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
id Related Disease Score Top Affiliating Genes
1 canavan disease 12.2
2 cushing's syndrome 11.6
3 adrenal gland hyperfunction 11.6
4 pituitary-dependent cushing's disease 11.1
5 acth-independent macronodular adrenal hyperplasia 11.1
6 leukodystrophy 11.0
7 pituitary adenoma, growth hormone-secreting 10.9
8 cerebral degeneration 10.9
9 myositis ossificans 10.9
10 bardet-biedl syndrome 2 10.9
11 malignant acth producing neoplasm of pituitary gland 10.8
12 mccune-albright syndrome, somatic, mosaic 10.8
13 primary pigmented nodular adrenocortical disease 10.8
14 mild canavan disease 10.7
15 severe canavan disease 10.7
16 familial myelofibrosis 10.7 AIP CDH23
17 ataxia-oculomotor apraxia 3 10.6 AIP GNAS POMC
18 g6pc3 deficiency 10.5 GH1 PRL
19 vertebral artery occlusion 10.5 AIP POMC PRL
20 functioning pituitary adenoma 10.5 POMC SST
21 ulcerative blepharitis 10.5 CRH POMC PRL
22 olfactory nerve neoplasm 10.5 POMC PRL
23 acute cervicitis 10.5 CRH NR3C1
24 prolactin producing pituitary tumor 10.4 POMC SST
25 uterine corpus adenocarcinofibroma 10.4 CRH POMC PRL
26 persistent hyperplastic primary vitreous 10.4 GNAS NR3C1 POMC
27 osteoclast-like giant cell neoplasm of the pancreas 10.4 POMC PRL
28 sifrim-hitz-weiss syndrome 10.4 AIP PRL
29 keratosis 10.4 CRH NR3C1 POMC
30 hypertensive encephalopathy 10.4 CRH POMC PRL
31 acute gonococcal salpingitis 10.4 CRH POMC PRL
32 glassy cell carcinoma of the cervix 10.4 AIP GH1 PRL
33 aortic valve atresia 10.3 GH1 POMC PRL
34 osseous heteroplasia, progressive 10.3 GH1 GNAS PRL
35 lactic acidosis 10.3 GH1 POMC PRL
36 vallecula cancer 10.3 CRH NR3C1 POMC
37 hypothyroidism, congenital, nongoitrous 4 10.3 GH1 POMC PRL
38 diencephalic neoplasm 10.3 GH1 POMC PRL
39 capillary lymphangioma 10.3 CRH GH1 POMC
40 euthyroid sick syndrome 10.3 CRH PRL
41 molybdenum cofactor deficiency b 10.3 GH1 POMC PRL
42 lymphoma, gastric non hodgkins type 10.3 GH1 POMC TBX19
43 african histoplasmosis 10.2 POMC PRL SST
44 rhinoscleroma 10.2 DRD2 PRL
45 lymphoepithelioma-like carcinoma 10.2 POMC PRL SST
46 early-onset parkinson disease 10.2 CRH POMC SST
47 acute female pelvic peritonitis 10.2 DRD2 POMC PRL
48 hallucinogen dependence 10.2 CRH DRD2 POMC
49 simple cryoglobulinemia 10.2 GH1 SST
50 immunodeficiency, common variable, 5 10.1 GNAS PRL SST

Comorbidity relations with Pituitary Adenoma, Acth-Secreting via Phenotypic Disease Network (PDN): (show all 17)


Acute Cystitis Anxiety Disorder
Bronchitis Chronic Pulmonary Heart Disease
Deficiency Anemia Esophagitis
Heart Disease Hypertension, Essential
Hypothyroidism Oral Candidiasis
Osteoporosis Postinflammatory Pulmonary Fibrosis
Premature Ovarian Failure 7 Respiratory Failure
Rheumatoid Arthritis Status Asthmaticus
Temporal Arteritis

Graphical network of the top 20 diseases related to Pituitary Adenoma, Acth-Secreting:



Diseases related to Pituitary Adenoma, Acth-Secreting

Symptoms & Phenotypes for Pituitary Adenoma, Acth-Secreting

Symptoms via clinical synopsis from OMIM:

54

Skin:
hirsutism
purpura
edema
ecchymoses
thin
more
Lab:
hypokalemia
hypochloremic alkalosis
elevated plasma cortisol
elevated urinary 17-hydroxycorticosteroids
dexamethasone suppression
more
Metabolic:
impaired glucose tolerance

GU:
kidney stones

Endocrine:
oligomnenorrhea

Skel:
kyphosis
vertebral compression fractures
osteoporosis
codfish vertebrae

Vascular:
hypertension

Muscle:
muscle atrophy

Misc:
poor wound healing
central obesity

Neuro:
mood alterations
psychotic mentation


Clinical features from OMIM:

219090

Human phenotypes related to Pituitary Adenoma, Acth-Secreting:

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
3 acne 56 32 frequent (33%) Frequent (79-30%) HP:0001061
4 nephrolithiasis 56 32 frequent (33%) Frequent (79-30%) HP:0000787
5 headache 56 32 occasional (7.5%) Occasional (29-5%) HP:0002315
6 lethargy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001254
7 round face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000311
8 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
9 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
10 thin skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000963
11 hypokalemia 56 32 frequent (33%) Frequent (79-30%) HP:0002900
12 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
13 infertility 56 32 frequent (33%) Frequent (79-30%) HP:0000789
14 immunodeficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002721
15 cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001638
16 myopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003198
17 recurrent fractures 56 32 frequent (33%) Frequent (79-30%) HP:0002757
18 psychosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000709
19 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
20 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
21 venous thrombosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004936
22 diabetes mellitus 56 32 frequent (33%) Frequent (79-30%) HP:0000819
23 recurrent skin infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0001581
24 lipodystrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0009125
25 truncal obesity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001956
26 anxiety 56 32 frequent (33%) Frequent (79-30%) HP:0000739
27 onychomycosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012203
28 menorrhagia 56 32 frequent (33%) Frequent (79-30%) HP:0000132
29 visual loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0000572
30 adrenal hyperplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008221
31 generalized hirsutism 56 32 frequent (33%) Frequent (79-30%) HP:0002230
32 pituitary adenoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002893
33 sleep disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0002360
34 bipolar affective disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0007302
35 aseptic necrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0010885
36 bruising susceptibility 56 32 frequent (33%) Frequent (79-30%) HP:0000978
37 generalized hyperpigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007440
38 metrorrhagia 56 32 frequent (33%) Frequent (79-30%) HP:0100608
39 hirsutism 32 HP:0001007
40 kyphosis 32 HP:0002808
41 vertebral compression fractures 32 HP:0002953
42 glucose intolerance 32 HP:0000833
43 depression 56 Frequent (79-30%)
44 purpura 32 HP:0000979
45 edema 32 HP:0000969
46 mood changes 32 HP:0001575
47 poor wound healing 32 HP:0001058
48 oligomenorrhea 32 HP:0000876
49 abdominal obesity 32 HP:0012743
50 psychotic mentation 32 HP:0001345

UMLS symptoms related to Pituitary Adenoma, Acth-Secreting:


cushingoid facies

GenomeRNAi Phenotypes related to Pituitary Adenoma, Acth-Secreting according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.92 SSTR2 GH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.92 GH1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.92 GNAI2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.92 SSTR2 GH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.92 SSTR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.92 GH1 NR3C1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.92 GNAI2 SSTR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.92 SSTR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.92 GNAI2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.92 GH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.92 SSTR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.92 NR3C1 SSTR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.92 GH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.92 SSTR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.92 PCSK1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.92 NR3C1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.92 GNAI2 NR3C1 PCSK1 SSTR2 GH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.92 PCSK1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.92 PCSK1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.92 SSTR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.92 GH1 SSTR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.92 SSTR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.92 GNAI2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.92 PCSK1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.92 SSTR2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.92 PCSK1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.92 NR3C1 PCSK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.92 SSTR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.92 GH1

MGI Mouse Phenotypes related to Pituitary Adenoma, Acth-Secreting:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 CDH23 CRH DRD2 GNAI2 GNAS NR3C1
2 homeostasis/metabolism MP:0005376 10.2 NR3C1 PCSK1 POMC PRL SST SSTR2
3 growth/size/body region MP:0005378 10.18 AIP CDH23 CRH DRD2 GNAI2 GNAS
4 endocrine/exocrine gland MP:0005379 10.14 AIP CRH DRD2 GNAI2 GNAS NR3C1
5 cardiovascular system MP:0005385 10.11 PCSK1 POMC SSTR2 USP8 AIP DRD2
6 digestive/alimentary MP:0005381 9.98 CDH23 DRD2 GNAI2 NR3C1 PCSK1 SST
7 adipose tissue MP:0005375 9.97 CRH DRD2 GNAS NR3C1 PCSK1 POMC
8 integument MP:0010771 9.86 AIP CRH DRD2 GNAS NR3C1 POMC
9 liver/biliary system MP:0005370 9.81 USP8 AIP CRH DRD2 GNAI2 GNAS
10 neoplasm MP:0002006 9.43 AIP DRD2 GNAI2 GNAS POMC PRL
11 nervous system MP:0003631 9.36 GNAI2 GNAS NR3C1 POMC PRL SST

Drugs & Therapeutics for Pituitary Adenoma, Acth-Secreting

Drugs for Pituitary Adenoma, Acth-Secreting (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved Phase 4,Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
2
Liraglutide Approved Phase 4 204656-20-2 44147092
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Zinc Approved Phase 4 7440-66-6 32051 23994
5
Lactitol Investigational Phase 4 585-86-4 3871
6 insulin Phase 4
7 Insulin, Globin Zinc Phase 4
8 Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
9 Hormones Phase 4,Phase 3,Phase 2,Early Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
11 Dipeptidyl-Peptidase IV Inhibitors Phase 4
12 HIV Protease Inhibitors Phase 4
13 Hypoglycemic Agents Phase 4,Phase 2
14 Incretins Phase 4
15
protease inhibitors Phase 4
16 Sitagliptin Phosphate Phase 4
17
Cabergoline Approved Phase 3,Phase 2 81409-90-7 54746
18
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
19
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 5754 657311
20
Mifepristone Approved, Investigational Phase 3 84371-65-3 55245
21
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
22 Racepinephrine Approved Phase 2, Phase 3
23
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
24 Orange Approved, Nutraceutical Phase 3
25 Antiparkinson Agents Phase 3,Phase 2
26 Dopamine Agents Phase 3,Phase 2
27 Dopamine agonists Phase 3,Phase 2
28 Neurotransmitter Agents Phase 3,Phase 2
29 Adrenocorticotropic Hormone Phase 3,Phase 2,Early Phase 1
30 beta-endorphin Phase 3,Phase 2
31 Cortisol succinate Phase 3,Phase 2
32 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2
33 Hydrocortisone acetate Phase 3,Phase 2
34 Melanocyte-Stimulating Hormones Phase 3,Phase 2
35 Contraceptive Agents Phase 3
36 Contraceptives, Oral Phase 3
37 Contraceptives, Postcoital Phase 3
38 Luteolytic Agents Phase 3
39 Autonomic Agents Phase 2, Phase 3
40 Epinephryl borate Phase 2, Phase 3
41 glucocorticoids Phase 2, Phase 3
42 Peripheral Nervous System Agents Phase 2, Phase 3
43 Adrenergic Agents Phase 2, Phase 3
44 Adrenergic Agonists Phase 2, Phase 3
45 Adrenergic alpha-Agonists Phase 2, Phase 3
46 Adrenergic beta-Agonists Phase 2, Phase 3
47 Androgens Phase 2, Phase 3
48 Anesthetics Phase 2, Phase 3
49 Anesthetics, Local Phase 2, Phase 3
50 Anti-Asthmatic Agents Phase 2, Phase 3

Interventional clinical trials:

(show all 38)

id Name Status NCT ID Phase Drugs
1 Adipokine Profile in Patients With Cushing's Disease on Pasireotide Treatment Completed NCT03080181 Phase 4 Pasireotide 0.6 MG/ML
2 Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing's Disease or Acromegaly Recruiting NCT02060383 Phase 4 Pasireotide s.c.;Sitagliptin;Liraglutide;Insulin;Pasireotide LAR;Metformin
3 Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in a Novartis-sponsored Study. Recruiting NCT01794793 Phase 4 Pasireotide
4 Study of Cabergoline in Treatment of Corticotroph Pituitary Tumor Completed NCT00889525 Phase 3 Cabergoline
5 An Open-label, Multi-center, Expanded Access Study of Pasireotide s.c. in Patients With Cushing's Disease. Completed NCT01582061 Phase 3 Pasireotide sub-cutaneous formulation
6 Efficacy and Safety of Pasireotide Administered Monthly in Patients With Cushing's Disease Completed NCT01374906 Phase 3 SOM230 LAR 30 mg;SOM230 LAR 10 mg
7 Safety and Efficacy of Different Dose Levels of Pasireotide in Patients With de Novo, Persistent or Recurrent Cushing's Disease Completed NCT00434148 Phase 3 Pasireotide
8 Compassionate Use of CORLUX® (Mifepristone) in the Treatment of Signs and Symptoms of Endogenous Cushing's Syndrome Completed NCT01371565 Phase 3 Mifepristone
9 Efficacy and Safety Evaluation of Osilodrostat in Cushing's Disease Recruiting NCT02697734 Phase 3 osilodrostat;osilodrostat Placebo
10 Safety and Efficacy of LCI699 for the Treatment of Patients With Cushing's Disease Active, not recruiting NCT02180217 Phase 3 LCI699
11 Dynamic Hormone Diagnostics in Endocrine Disease Not yet recruiting NCT02934399 Phase 2, Phase 3
12 Mifepristone in Children With Refractory Cushing's Disease Withdrawn NCT01925092 Phase 3 mifepristone
13 Preoperative Bexarotene Treatment for Cushing's Disease Unknown status NCT00845351 Phase 1, Phase 2 Bexarotene
14 Targeted Therapy With Gefitinib in Patients With USP8-mutated Cushing's Disease Unknown status NCT02484755 Phase 2 Gefitinib
15 Extension Study to Assess the Safety and Efficacy of Pasireotide in Patients With Cushing's Disease Completed NCT00171951 Phase 2 Pasireotide
16 A Study to Assess SOM230 in Patients With Pituitary Cushing's Disease Completed NCT00088608 Phase 2 SOM230 s.c.
17 Pasireotide LAR Therapy of Silent Corticotroph Pituitary Tumors Recruiting NCT02749227 Phase 2 Pasireotide LAR
18 Treatment of Cushing's Disease With R-roscovitine Recruiting NCT02160730 Phase 2 R-roscovitine
19 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition Recruiting NCT03111810 Phase 2 AZD4017 and prednisolone;Placebo Oral Tablet and prednisolone
20 Study of the Efficacy and Safety of Pasireotide s.c. +/- Cabergoline in Patients With Cushing's Disease Active, not recruiting NCT01915303 Phase 2 Pasireotide with or without cabergoline
21 Safety and Efficacy of LCI699 in Cushing's Disease Patients. Active, not recruiting NCT01331239 Phase 2 LCI699
22 Rosiglitazone in Treating Patients With Pituitary Tumors Terminated NCT00616642 Phase 2 rosiglitazone maleate
23 Rosiglitazone in Treating Patients With Newly Diagnosed ACTH-Secreting Pituitary Tumor (Cushing Disease) Terminated NCT00612066 Phase 2 rosiglitazone maleate
24 Pasireotide Therapy in Patients With Nelson's Syndrome Terminated NCT01617733 Phase 2 Pasireotide
25 Study of Pasireotide in Patients With Rare Tumors of Neuroendocrine Origin Terminated NCT00958841 Phase 2 pasireotide LAR
26 Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education Tools Unknown status NCT01775332
27 The Factors Associated With the Recurrence in Patients With Cushing Disease Completed NCT02233335
28 Jugular Vein Sampling for Hormone Levels for the Diagnosis of Cushing Syndrome Completed NCT00001453
29 Cognition, Steroids, and Imaging in Cushings Disease Completed NCT00081341
30 Quality of Life, Fatigue and Cognitive, Affective and Emotional Dysfunction in Patients With Cushing's Syndrome Recruiting NCT03211624
31 Cushing's Disease Complications Recruiting NCT02568982
32 Long Term Safety and Efficacy of Pasireotide s.c. in Patients With Cushing's Disease Recruiting NCT02310269 SOM230
33 Effects of Hormone Stimulation on Brain Scans for Cushing s Disease Recruiting NCT01459237 Early Phase 1 Acthrel
34 Cushing´s Disease Epidemiology in Sweden Active, not recruiting NCT02350153
35 Rhinological Outcomes in Endonasal Pituitary Surgery Active, not recruiting NCT01504399
36 Health Status of the Patients Followed for a Disease of Cushing in the Region Large-West of 1990 to 2015 Not yet recruiting NCT03297892
37 Assessment of Persistent Cognitive Impairment After Cure of Cushing's Disease Not yet recruiting NCT02603653
38 Long-term Cardiovascular Risk in Cured Cushing's Patients Terminated NCT00881283

Search NIH Clinical Center for Pituitary Adenoma, Acth-Secreting

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


Cochrane evidence based reviews: acth-secreting pituitary adenoma

Genetic Tests for Pituitary Adenoma, Acth-Secreting

Anatomical Context for Pituitary Adenoma, Acth-Secreting

MalaCards organs/tissues related to Pituitary Adenoma, Acth-Secreting:

39
Pituitary, Bone, Adrenal Gland, Skin, Kidney, Brain, Skeletal Muscle

Publications for Pituitary Adenoma, Acth-Secreting

Variations for Pituitary Adenoma, Acth-Secreting

ClinVar genetic disease variations for Pituitary Adenoma, Acth-Secreting:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAI2 NM_002070.3(GNAI2): c.535C> G (p.Arg179Gly) single nucleotide variant Pathogenic rs137853226 GRCh37 Chromosome 3, 50293694: 50293694
2 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
3 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
4 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh37 Chromosome 20, 57484596: 57484596
5 GNAS NM_001077488.3(GNAS): c.684G> C (p.Gln228His) single nucleotide variant Pathogenic rs137854533 GRCh37 Chromosome 20, 57484597: 57484597
6 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
7 USP8 NM_005154.4(USP8): c.2152T> C (p.Ser718Pro) single nucleotide variant Pathogenic rs672601307 GRCh38 Chromosome 15, 50490443: 50490443
8 USP8 NM_005154.4(USP8): c.2153C> G (p.Ser718Cys) single nucleotide variant Pathogenic rs672601308 GRCh38 Chromosome 15, 50490444: 50490444
9 USP8 NM_005154.4(USP8): c.2155_2157delTCC (p.Ser719del) deletion Pathogenic rs672601306 GRCh38 Chromosome 15, 50490446: 50490448
10 USP8 NM_005154.4(USP8): c.2159C> G (p.Pro720Arg) single nucleotide variant Pathogenic rs672601311 GRCh38 Chromosome 15, 50490450: 50490450

Cosmic variations for Pituitary Adenoma, Acth-Secreting:

9 (show all 32)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM4997287 USP8 pituitary,NS,adenoma,ACTH c.2152T>C p.S718P 55
2 COSM5967229 USP8 pituitary,NS,adenoma,ACTH c.2153C>T p.S718F 55
3 COSM416905 USP8 pituitary,NS,adenoma,ACTH c.2159C>A p.P720Q 55
4 COSM5967228 USP8 pituitary,NS,adenoma,ACTH c.2155T>C p.S719P 55
5 COSM1749198 USP8 pituitary,NS,adenoma,ACTH c.2159C>G p.P720R 55
6 COSM5991542 STAG2 pituitary,NS,adenoma,ACTH c.1363G>C p.G455R 55
7 COSM28544 PIK3CA pituitary,NS,adenoma,ACTH c.3026G>A p.G1009E 55
8 COSM303944 PIK3CA pituitary,NS,adenoma,ACTH c.2984C>A p.A995D 55
9 COSM22589 MEN1 pituitary,NS,adenoma,ACTH c.1230C>A p.F410L 55
10 COSM482 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 55
11 COSM27896 GNAS pituitary,NS,adenoma,ACTH c.680A>G p.Q227R 55
12 COSM27887 GNAS pituitary,NS,adenoma,ACTH c.601C>T p.R201C 55
13 COSM5991541 BCOR pituitary,NS,adenoma,ACTH c.283G>A p.G95R 55
14 COSM45444 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.587G>T p.R196L 4
15 COSM43555 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.736A>G p.M246V 4
16 COSM225014 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1960G>A p.V654M 4
17 COSM4167506 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.617T>G p.L206R 4
18 COSM27895 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.602G>A p.R201H 4
19 COSM4962873 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.679C>G p.Q227E 4
20 COSM27899 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.601C>A p.R201S 4
21 COSM5663 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.133T>C p.S45P 4
22 COSM17661 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.130C>G p.P44A 4
23 COSM5988492 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.101G>C p.G34A 4
24 COSM5681 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.95A>G p.D32G 4
25 COSM5689 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>G p.S45C 4
26 COSM5678 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.107A>C p.H36P 4
27 COSM5667 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>T p.S45F 4
28 COSM5679 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.110C>G p.S37C 4
29 COSM476 BRAF adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1799T>A p.V600E 4
30 COSM10995 TP53 skin,face,other,hyperplasia c.580C>T p.L194F 3
31 COSM43939 TP53 skin,face,other,hyperplasia c.632C>T p.T211I 3
32 COSM10654 TP53 skin,face,other,hyperplasia c.637C>T p.R213* 3

Expression for Pituitary Adenoma, Acth-Secreting

Search GEO for disease gene expression data for Pituitary Adenoma, Acth-Secreting.

Pathways for Pituitary Adenoma, Acth-Secreting

Pathways related to Pituitary Adenoma, Acth-Secreting according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 CRH DRD2 GH1 GNAI2 GNAS NR3C1
2
Show member pathways
12.62 CRH GH1 GNAI2 GNAS POMC
3
Show member pathways
11.86 DRD2 GNAI2 GNAS SSTR2 SSTR5
4
Show member pathways
11.84 GNAI2 GNAS SST SSTR2
5
Show member pathways
11.72 DRD2 GNAI2 GNAS
6 11.72 CRH GNAI2 GNAS POMC
7 11.52 NR3C1 POMC PRL
8 11.32 CRH GNAI2 GNAS
9 10.99 CRH GNAI2 GNAS POMC TBX19
10 10.77 GNAS NR3C1
11 10.25 CRH POMC

GO Terms for Pituitary Adenoma, Acth-Secreting

Cellular components related to Pituitary Adenoma, Acth-Secreting according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.62 GH1 PRL

Biological processes related to Pituitary Adenoma, Acth-Secreting according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.97 CRH DRD2 GNAI2 GNAS NR3C1 POMC
2 G-protein coupled receptor signaling pathway GO:0007186 9.93 DRD2 GNAI2 GNAS SST SSTR2 SSTR5
3 response to drug GO:0042493 9.8 CRH DRD2 GNAS SST
4 cell-cell signaling GO:0007267 9.78 PCSK1 POMC SST SSTR2
5 female pregnancy GO:0007565 9.58 CRH GNAS PRL
6 peptide hormone processing GO:0016486 9.55 PCSK1 POMC
7 positive regulation of JAK-STAT cascade GO:0046427 9.54 GH1 PRL
8 synaptic transmission, dopaminergic GO:0001963 9.52 CRH DRD2
9 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.51 DRD2 GNAS
10 response to nutrient GO:0007584 9.5 GNAI2 SST SSTR2
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.43 GH1 PRL
12 peristalsis GO:0030432 9.26 DRD2 SSTR2
13 hormone-mediated apoptotic signaling pathway GO:0008628 9.16 CRH SST
14 somatostatin signaling pathway GO:0038170 8.96 SSTR2 SSTR5
15 cellular response to glucocorticoid stimulus GO:0071385 8.62 SSTR2 SSTR5

Molecular functions related to Pituitary Adenoma, Acth-Secreting according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 G-protein beta/gamma-subunit complex binding GO:0031683 9.4 GNAI2 GNAS
2 neuropeptide binding GO:0042923 9.37 SSTR2 SSTR5
3 guanyl nucleotide binding GO:0019001 9.32 GNAI2 GNAS
4 somatostatin receptor activity GO:0004994 9.26 SSTR2 SSTR5
5 corticotropin-releasing hormone receptor 1 binding GO:0051430 9.16 CRH GNAS
6 hormone activity GO:0005179 9.02 CRH GH1 POMC PRL SST
7 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Pituitary Adenoma, Acth-Secreting

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