ASPA
MCID: PTT049
MIFTS: 53

Pituitary Adenoma, Acth-Secreting (ASPA) malady

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

Aliases & Classifications for Pituitary Adenoma, Acth-Secreting

Aliases & Descriptions for Pituitary Adenoma, Acth-Secreting:

Name: Pituitary Adenoma, Acth-Secreting 54 13
Acth-Secreting Pituitary Adenoma 12 50 66 42 14 69
Cushing Disease 50 25 56 66
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 66
Corticotroph Adenoma 12
Cushing's Disease 50
Cushing Syndrome 69
Corticotropinoma 12
Hypercortisolism 25
Aspa 66

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

OMIM 54 219090
Disease Ontology 12 DOID:7004
MeSH 42 D049913
NCIt 47 C7462
SNOMED-CT 64 21109002 254958004
Orphanet 56 ORPHA96253
ICD10 via Orphanet 34 E24.0 D35.2
MESH via Orphanet 43 D047748
UMLS via Orphanet 70 C0221406
MedGen 40 C0221406
UMLS 69 C1306214

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 fatigue, headache and abdominal pain. An important gene associated with Pituitary Adenoma, Acth-Secreting is USP8 (Ubiquitin Specific Peptidase 8), and among its related pathways/superpathways are IL-2 Pathway and Peptide ligand-binding receptors. The drugs Somatostatin and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, adrenal gland and bone, and related phenotypes are homeostasis/metabolism and growth/size/body region

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 Cushing 'disease' is a condition associated with increased blood cortisol resulting from adrenocorticotropic hormone... (219090) more...

UniProtKB/Swiss-Prot : 66 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 95)
id Related Disease Score Top Affiliating Genes
1 canavan disease 12.3
2 cushing's syndrome 11.5
3 pituitary-dependent cushing's disease 11.1
4 cerebral degeneration 11.0
5 myositis ossificans 11.0
6 mild canavan disease 11.0
7 severe canavan disease 11.0
8 leukodystrophy 11.0
9 mccune-albright syndrome, somatic, mosaic 10.9
10 malignant acth producing neoplasm of pituitary gland 10.8
11 lipodystrophy, familial partial, 2 10.7
12 pituitary adenoma, growth hormone-secreting 10.7
13 acth-independent macronodular adrenal hyperplasia 10.7
14 familial partial lipodystrophy 10.7
15 atp7a-related copper transport disorders 10.3 AIP GNAS
16 cone-rod dystrophy 5 10.2 AIP GNAS POMC
17 burning mouth syndrome type 3 10.2 POMC SST
18 vertebral artery occlusion 10.2 AIP POMC PRL
19 renal hypoplasia, bilateral 10.2 POMC SST
20 water-clear cell adenoma 10.2 POMC SST
21 wheat allergy 10.2 POMC PRL
22 dacryoadenitis 10.2 CRH POMC PRL
23 vaginal adenoma 10.2 POMC SST
24 peeling skin syndrome 10.2 GNAS NR3C1 POMC
25 astroblastoma 10.2 CRH POMC PRL
26 pancreatic colloid cystadenoma 10.2 POMC PRL
27 fatty liver disease 10.1 CRH POMC PRL
28 grin2a-related speech disorders and epilepsy 10.1 GH1 GNAS PRL
29 uterine ligament cancer 10.1 AIP GNAS SST
30 acute gonococcal salpingitis 10.1 CRH POMC PRL
31 glaucoma, hereditary adult type 1a 10.1 AIP GH1 PRL
32 keratosis 10.1 CRH NR3C1 POMC
33 congenital tricuspid stenosis 10.1 GH1 POMC PRL
34 osseous heteroplasia, progressive 10.1 GH1 GNAS PRL
35 olfactory nerve neoplasm 10.1 GH1 POMC PRL
36 lymph node cancer 10.1 CRH NR3C1
37 lichen disease 10.1 CRH NR3C1 POMC
38 caudal regression syndrome 10.1 GH1 POMC PRL
39 bowen-conradi syndrome 10.1 AIP PRL
40 breast secretory carcinoma 10.1 CRH POMC SST
41 diencephalic neoplasm 10.1 GH1 POMC PRL
42 mucopolysaccharidosis type vi 10.1 GH1 POMC PRL
43 extragonadal nonseminomatous germ cell tumor 10.1 POMC PRL SST
44 early-onset parkinson disease 10.1 CRH POMC SST
45 macrocephaly, benign familial 10.1 GH1 POMC TBX19
46 pemphigus vegetans 10.1 GH1 SST
47 leukemia, acute promyelocytic, somatic 10.0 GNAS PRL SST
48 cerebral hemisphere lipoma 10.0 GH1 PRL SST
49 sesame syndrome 10.0 PCSK1 POMC TBX19
50 african histoplasmosis 10.0 AIP POMC PRL SST

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


Acute Cystitis Adrenal Cortical Hypofunction
Anxiety Disorder Bronchitis
Chronic Pulmonary Heart Disease Deficiency Anemia
Esophagitis Heart Disease
Hypertension, Essential Hypothyroidism
Oral Candidiasis Osteoporosis
Postinflammatory Pulmonary Fibrosis 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 by clinical synopsis from OMIM:

219090

Clinical features from OMIM:

219090

Human phenotypes related to Pituitary Adenoma, Acth-Secreting:

56 32 (show top 50) (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Frequent (79-30%) HP:0012378
2 headache 56 32 Occasional (29-5%) HP:0002315
3 abdominal pain 56 32 Occasional (29-5%) HP:0002027
4 lethargy 56 32 Occasional (29-5%) HP:0001254
5 diabetes mellitus 56 32 Frequent (79-30%) HP:0000819
6 hypertension 56 32 Frequent (79-30%) HP:0000822
7 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
8 sleep disturbance 56 32 Occasional (29-5%) HP:0002360
9 cataract 56 32 Occasional (29-5%) HP:0000518
10 aseptic necrosis 56 32 Occasional (29-5%) HP:0010885
11 visual impairment 56 32 Occasional (29-5%) HP:0000505
12 hypokalemia 56 32 Frequent (79-30%) HP:0002900
13 myopathy 56 32 Occasional (29-5%) HP:0003198
14 osteoporosis 56 32 Frequent (79-30%) HP:0000939
15 immunodeficiency 56 32 Frequent (79-30%) HP:0002721
16 thin skin 56 32 Very frequent (99-80%) HP:0000963
17 generalized hirsutism 56 32 Frequent (79-30%) HP:0002230
18 acne 56 32 Frequent (79-30%) HP:0001061
19 precocious menopause 56 32 Occasional (29-5%) HP:0100805
20 anxiety 56 32 Frequent (79-30%) HP:0000739
21 cardiomyopathy 56 32 Occasional (29-5%) HP:0001638
22 venous thrombosis 56 32 Occasional (29-5%) HP:0004936
23 psychosis 56 32 Occasional (29-5%) HP:0000709
24 visual loss 56 32 Occasional (29-5%) HP:0000572
25 round face 56 32 Very frequent (99-80%) HP:0000311
26 bipolar affective disorder 56 32 Occasional (29-5%) HP:0007302
27 nephrolithiasis 56 32 Frequent (79-30%) HP:0000787
28 recurrent fractures 56 32 Frequent (79-30%) HP:0002757
29 pituitary adenoma 56 32 Very frequent (99-80%) HP:0002893
30 bruising susceptibility 56 32 Frequent (79-30%) HP:0000978
31 infertility 56 32 Frequent (79-30%) HP:0000789
32 generalized hyperpigmentation 56 32 Occasional (29-5%) HP:0007440
33 truncal obesity 56 32 Very frequent (99-80%) HP:0001956
34 recurrent skin infections 56 32 Occasional (29-5%) HP:0001581
35 menorrhagia 56 32 Frequent (79-30%) HP:0000132
36 metrorrhagia 56 32 Frequent (79-30%) HP:0100608
37 lipodystrophy 56 32 Very frequent (99-80%) HP:0009125
38 adrenal hyperplasia 56 32 Very frequent (99-80%) HP:0008221
39 onychomycosis 56 32 Occasional (29-5%) HP:0012203
40 edema 32 HP:0000969
41 depression 56 Frequent (79-30%)
42 kyphosis 32 HP:0002808
43 skeletal muscle atrophy 32 HP:0003202
44 teleangiectasia of the skin 56 Occasional (29-5%)
45 striae distensae 32 HP:0001065
46 purpura 32 HP:0000979
47 increased circulating acth level 32 HP:0003154
48 biconcave vertebral bodies 32 HP:0004586
49 poor wound healing 32 HP:0001058
50 hirsutism 32 HP:0001007

UMLS symptoms related to Pituitary Adenoma, Acth-Secreting:


cushingoid facies

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

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 SST TBX19 USP8 AIP CRH DRD2
2 growth/size/body region MP:0005378 10.26 AIP CRH DRD2 GNAI2 GNAS NR3C1
3 endocrine/exocrine gland MP:0005379 10.24 AIP CRH DRD2 GNAI2 GNAS NR3C1
4 behavior/neurological MP:0005386 10.19 CRH DRD2 GNAI2 GNAS NR3C1 PCSK1
5 cardiovascular system MP:0005385 10.18 AIP DRD2 GNAI2 GNAS NR3C1 PCSK1
6 cellular MP:0005384 10.16 AIP CRH DRD2 GNAI2 GNAS NR3C1
7 immune system MP:0005387 10.13 CRH DRD2 GNAI2 GNAS NR3C1 PCSK1
8 liver/biliary system MP:0005370 10.07 DRD2 GNAI2 GNAS NR3C1 POMC PRKCD
9 mortality/aging MP:0010768 10.06 AIP DRD2 GNAI2 GNAS NR3C1 PAM16
10 adipose tissue MP:0005375 10.02 PCSK1 POMC CRH DRD2 GNAS NR3C1
11 integument MP:0010771 10.01 GNAS NR3C1 POMC PRL TBX19 AIP
12 nervous system MP:0003631 9.85 CRH DRD2 GNAI2 GNAS NR3C1 POMC
13 neoplasm MP:0002006 9.73 AIP DRD2 GNAI2 GNAS POMC PRL
14 no phenotypic analysis MP:0003012 9.43 CRH DRD2 GNAS NR3C1 POMC SST
15 renal/urinary system MP:0005367 9.1 CRH DRD2 GNAS NR3C1 POMC PRKCD

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 110)
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
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Zinc Approved Phase 4 7440-66-6 32051 23994
5 insulin Phase 4
6 Insulin, Globin Zinc Phase 4
7 Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
8 Hormones Phase 4,Phase 3,Phase 2,Early Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
10 Dipeptidyl-Peptidase IV Inhibitors Phase 4
11 HIV Protease Inhibitors Phase 4
12 Hypoglycemic Agents Phase 4,Phase 2
13 Incretins Phase 4
14
protease inhibitors Phase 4
15 Sitagliptin Phosphate Phase 4
16
Lactitol Phase 4 585-86-4 3871
17
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 5754 657311
18
Cabergoline Approved Phase 3,Phase 2 81409-90-7 54746
19
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
20
Mifepristone Approved, Investigational Phase 3,Phase 2 84371-65-3 55245
21
Epinephrine Approved, Vet_approved Phase 3,Phase 2 51-43-4 5816
22
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
23
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
24 Anesthetics Phase 2, Phase 3
25 Cortisol succinate Phase 3,Phase 2
26 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2
27 Hydrocortisone acetate Phase 3,Phase 2
28 Adrenocorticotropic Hormone Phase 3,Phase 2,Early Phase 1
29 beta-endorphin Phase 3,Phase 2
30 Melanocyte-Stimulating Hormones Phase 3,Phase 2
31 Antiparkinson Agents Phase 3,Phase 2
32 Dopamine Agents Phase 3,Phase 2
33 Dopamine agonists Phase 3,Phase 2
34 Neurotransmitter Agents Phase 3,Phase 2
35 Contraceptive Agents Phase 3,Phase 2
36 Contraceptives, Oral Phase 3,Phase 2
37 Contraceptives, Postcoital Phase 3,Phase 2
38 Luteolytic Agents Phase 3,Phase 2
39 Epinephryl borate Phase 3,Phase 2
40 Racepinephrine Phase 3,Phase 2
41 Antirheumatic Agents Phase 3
42 Interleukin 1 Receptor Antagonist Protein Phase 3
43 Antineoplastic Agents, Hormonal Phase 3,Phase 2
44 Edotreotide Phase 3
45 Gastrointestinal Agents Phase 3,Phase 2
46 Radiopharmaceuticals Phase 3
47 Adrenergic Agents Phase 2, Phase 3
48 Adrenergic Agonists Phase 2, Phase 3
49 Adrenergic alpha-Agonists Phase 2, Phase 3
50 Adrenergic beta-Agonists Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 55)
id Name Status NCT ID Phase
1 Adipokine Profile in Patients With Cushing's Disease on Pasireotide Treatment Completed NCT03080181 Phase 4
2 Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing's Disease or Acromegaly Recruiting NCT02060383 Phase 4
3 Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in a Novartis-sponsored Study. Recruiting NCT01794793 Phase 4
4 Efficacy and Safety of Pasireotide Administered Monthly in Patients With Cushing's Disease Completed NCT01374906 Phase 3
5 Safety and Efficacy of Different Dose Levels of Pasireotide in Patients With de Novo, Persistent or Recurrent Cushing's Disease Completed NCT00434148 Phase 3
6 An Open-label, Multi-center, Expanded Access Study of Pasireotide s.c. in Patients With Cushing's Disease. Completed NCT01582061 Phase 3
7 Study of Cabergoline in Treatment of Corticotroph Pituitary Tumor Completed NCT00889525 Phase 3
8 Compassionate Use of CORLUX® (Mifepristone) in the Treatment of Signs and Symptoms of Endogenous Cushing's Syndrome Completed NCT01371565 Phase 3
9 An Extension Study of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00936741 Phase 3
10 A Study of the Efficacy and Safety of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00569582 Phase 3
11 Effects of IL-1 Beta on the HPA-axis in Obese Persons Completed NCT02227420 Phase 3
12 Safety and Efficacy of LCI699 for the Treatment of Patients With Cushing's Disease Recruiting NCT02180217 Phase 3
13 Efficacy and Safety Evaluation of Osilodrostat in Cushing's Disease Recruiting NCT02697734 Phase 3
14 Ga-68-DOTATOC -PET in the Management of Pituitary Tumours Recruiting NCT02419664 Phase 3
15 Dynamic Hormone Diagnostics in Endocrine Disease Not yet recruiting NCT02934399 Phase 2, Phase 3
16 Mifepristone in Children With Refractory Cushing's Disease Withdrawn NCT01925092 Phase 3
17 Preoperative Bexarotene Treatment for Cushing's Disease Unknown status NCT00845351 Phase 1, Phase 2
18 Targeted Therapy With Gefitinib in Patients With USP8-mutated Cushing's Disease Unknown status NCT02484755 Phase 2
19 Extension Study to Assess the Safety and Efficacy of Pasireotide in Patients With Cushing's Disease Completed NCT00171951 Phase 2
20 A Study to Assess SOM230 in Patients With Pituitary Cushing's Disease Completed NCT00088608 Phase 2
21 Treatment of Cushing's Disease With R-roscovitine Recruiting NCT02160730 Phase 2
22 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting NCT02468193 Phase 2
23 Targeted Therapy With Lapatinib in Patients With Recurrent Pituitary Tumors Resistant to Standard Therapy Recruiting NCT00939523 Phase 2
24 Pasireotide LAR Therapy of Silent Corticotroph Pituitary Tumors Recruiting NCT02749227 Phase 2
25 Study to Evaluate CORT125134 in Patients With Cushing's Syndrome Recruiting NCT02804750 Phase 2
26 Study of the Efficacy and Safety of Pasireotide s.c. +/- Cabergoline in Patients With Cushing's Disease Active, not recruiting NCT01915303 Phase 2
27 Safety and Efficacy of LCI699 in Cushing's Disease Patients. Active, not recruiting NCT01331239 Phase 2
28 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition Not yet recruiting NCT03111810 Phase 2
29 Reduction by Pasireotide of the Effluent Volume in High-output Enterostomy in Patients Refractory to Usual Medical Treatment Not yet recruiting NCT02713776 Phase 2
30 Rosiglitazone in Treating Patients With Newly Diagnosed ACTH-Secreting Pituitary Tumor (Cushing Disease) Terminated NCT00612066 Phase 2
31 Rosiglitazone in Treating Patients With Pituitary Tumors Terminated NCT00616642 Phase 2
32 Pasireotide Therapy in Patients With Nelson's Syndrome Terminated NCT01617733 Phase 2
33 Prospective, Open-Label, Multicenter, International Study of Mifepristone for Symptomatic Treatment of Cushing's Syndrome Caused by Ectopic Adrenal Corticotrophin Hormone (ACTH) Secretion Terminated NCT00422201 Phase 2
34 Phase II Study of SOM230 in Patients With Recurrent or Progressive Meningioma Terminated NCT00813592 Phase 2
35 Study of Pasireotide in Patients With Rare Tumors of Neuroendocrine Origin Terminated NCT00958841 Phase 2
36 Study of Depression, Peptides, and Steroids in Cushing's Syndrome Unknown status NCT00004334
37 Anesthesia Management of Retroperitoneal Adrenalectomies Unknown status NCT00894335
38 The Factors Associated With the Recurrence in Patients With Cushing Disease Completed NCT02233335
39 Cognition, Steroids, and Imaging in Cushings Disease Completed NCT00081341
40 Jugular Vein Sampling for Hormone Levels for the Diagnosis of Cushing Syndrome Completed NCT00001453
41 Examination of Brain Serotonin Receptors in Patients With Mood Disorders Completed NCT00026832
42 Obesity as a Risk Factor for Musculoskeletal Diseases in the U.S. Air Force: Associations and Implications for Force Readiness Completed NCT01613001
43 Cushing's Disease Complications Recruiting NCT02568982
44 Long Term Safety and Efficacy of Pasireotide s.c. in Patients With Cushing's Disease Recruiting NCT02310269
45 Effects of Hormone Stimulation on Brain Scans for Cushing s Disease Recruiting NCT01459237 Early Phase 1
46 Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education Tools Recruiting NCT01775332
47 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Recruiting NCT02810496
48 An Investigation of Pituitary Tumors and Related Hypothalmic Disorders Recruiting NCT00001595
49 Mifepristone for Breast Cancer Patients With Higher Levels of Progesterone Receptor Isoform A Than Isoform B. Recruiting NCT02651844
50 Adrenal Venous Sampling in Patients With Overt or Subclinical Cushings Syndrome, and Bilateral Adrenal Tumors Recruiting NCT02543697

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, Adrenal Gland, Bone, Skin, 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 23)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM1749198 USP8 pituitary,NS,adenoma,ACTH c.2159C>G p.P720R 55
2 COSM4997287 USP8 pituitary,NS,adenoma,ACTH c.2152T>C p.S718P 55
3 COSM303944 PIK3CA pituitary,NS,adenoma,ACTH c.2984C>A p.A995D 55
4 COSM28544 PIK3CA pituitary,NS,adenoma,ACTH c.3026G>A p.G1009E 55
5 COSM22589 MEN1 pituitary,NS,adenoma,ACTH c.1230C>A p.F410L 55
6 COSM482 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 55
7 COSM27896 GNAS pituitary,NS,adenoma,ACTH c.680A>G p.Q227R 55
8 COSM27887 GNAS pituitary,NS,adenoma,ACTH c.601C>T p.R201C 55
9 COSM45444 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.587G>T p.R196L 6
10 COSM43555 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.736A>G p.M246V 6
11 COSM225014 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1960G>A p.V654M 6
12 COSM4167506 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.617T>G p.L206R 6
13 COSM27895 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.602G>A p.R201H 6
14 COSM4962873 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.679C>G p.Q227E 6
15 COSM27899 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.601C>A p.R201S 6
16 COSM5667 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>T p.S45F 6
17 COSM5663 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.133T>C p.S45P 6
18 COSM5679 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.110C>G p.S37C 6
19 COSM5681 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.95A>G p.D32G 6
20 COSM476 BRAF adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1799T>A p.V600E 6
21 COSM43939 TP53 skin,face,other,hyperplasia c.632C>T p.T211I 3
22 COSM10654 TP53 skin,face,other,hyperplasia c.637C>T p.R213* 3
23 COSM10995 TP53 skin,face,other,hyperplasia c.580C>T p.L194F 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 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 GH1 GNAI2 GNAS NR3C1 PRKCD PRL
2
Show member pathways
12.88 CRH DRD2 GH1 GNAI2 GNAS NR3C1
3
Show member pathways
12.4 CRH GH1 GNAI2 GNAS POMC PRKCD
4
Show member pathways
12.32 GNAI2 GNAS POMC PRKCD
5
Show member pathways
12.3 CRH GNAI2 GNAS PRKCD
6
Show member pathways
12.25 GH1 NR3C1 PRKCD PRL
7 12.09 DRD2 GNAI2 GNAS PRKCD
8
Show member pathways
12.06 GNAI2 GNAS POMC PRKCD
9
Show member pathways
11.79 DRD2 GNAI2 GNAS
10 11.72 CRH GNAI2 GNAS POMC
11 11.55 NR3C1 POMC PRL
12 11.28 CRH GNAI2 GNAS
13 11.07 GNAI2 GNAS PRKCD
14 11.07 CRH GNAI2 GNAS POMC PRKCD TBX19
15 10.84 GNAS NR3C1
16 10.21 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 13)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.76 AIP CRH DRD2 GNAI2 GNAS NR3C1
2 response to ethanol GO:0045471 9.61 CRH DRD2 PRL
3 female pregnancy GO:0007565 9.54 CRH GNAS PRL
4 positive regulation of receptor internalization GO:0002092 9.52 DRD2 GH1
5 peptide hormone processing GO:0016486 9.51 PCSK1 POMC
6 positive regulation of JAK-STAT cascade GO:0046427 9.49 GH1 PRL
7 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.48 DRD2 GNAS
8 synaptic transmission, dopaminergic GO:0001963 9.46 CRH DRD2
9 response to nutrient GO:0007584 9.43 GNAI2 PRL SST
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.4 GH1 PRL
11 parturition GO:0007567 9.32 CRH PRL
12 response to drug GO:0042493 9.02 CRH DRD2 GNAS PRL SST
13 hormone-mediated apoptotic signaling pathway GO:0008628 8.96 CRH SST

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

id Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 9.71 AIP DRD2 GNAI2 GNAS
2 ionotropic glutamate receptor binding GO:0035255 9.37 DRD2 GNAS
3 G-protein beta/gamma-subunit complex binding GO:0031683 9.32 GNAI2 GNAS
4 guanyl nucleotide binding GO:0019001 9.26 GNAI2 GNAS
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
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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