PITA4
MCID: PTT057
MIFTS: 55

Pituitary Adenoma 4, Acth-Secreting (PITA4)

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

Aliases & Classifications for Pituitary Adenoma 4, Acth-Secreting

MalaCards integrated aliases for Pituitary Adenoma 4, Acth-Secreting:

Name: Pituitary Adenoma 4, Acth-Secreting 58 76
Cushing Disease 60 76
Pita4 58 76
Pituitary Adenoma 4, Acth-Secreting, Somatic 58
Pituitary-Dependent Cushing's Disease 74
Pituitary Corticotroph Micro-Adenoma 60
Pituitary-Dependent Cushing Syndrome 60
Corticotroph Pituitary Adenoma 60
Cushing Disease, Pituitary 58
Pituitary Cushing Disease 76

Characteristics:

Orphanet epidemiological data:

60
cushing disease
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive vs. dominant men1


Classifications:



Summaries for Pituitary Adenoma 4, Acth-Secreting

Genetics Home Reference : 26 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 4, Acth-Secreting, also known as cushing disease, is related to adenoma and pituitary-dependent cushing's disease. An important gene associated with Pituitary Adenoma 4, Acth-Secreting is USP8 (Ubiquitin Specific Peptidase 8), and among its related pathways/superpathways are WNT Signaling and Cell cycle Cell cycle (generic schema). The drugs Pasireotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and adrenal gland, and related phenotypes are failure to thrive and thin skin

OMIM : 58 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 : 76 Pituitary adenoma 4, ACTH-secreting: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA4 results 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 4, Acth-Secreting

Diseases in the Acth-Secreting Pituitary Adenoma family:

Pituitary Adenoma 4, Acth-Secreting

Diseases related to Pituitary Adenoma 4, Acth-Secreting via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 adenoma 29.4 AIP USP8
2 pituitary-dependent cushing's disease 11.3
3 pituitary adenoma 1, multiple types 11.2
4 acth-independent macronodular adrenal hyperplasia 11.1
5 lipodystrophy, familial partial, type 2 11.0
6 familial partial lipodystrophy 11.0
7 primary pigmented nodular adrenocortical disease 11.0
8 pituitary adenoma 10.6
9 acromegaly 10.2
10 acth-secreting pituitary adenoma 10.2
11 diabetes mellitus 10.1
12 familial glucocorticoid deficiency 10.1
13 nelson syndrome 10.0
14 dilated cardiomyopathy 9.9
15 conn's syndrome 9.9
16 central serous chorioretinopathy 9.9
17 diabetes mellitus, noninsulin-dependent 9.8
18 kaposi sarcoma 9.8
19 multiple endocrine neoplasia, type iib 9.8
20 nephrolithiasis, calcium oxalate 9.8
21 sarcoidosis 1 9.8
22 triiodothyronine receptor auxiliary protein 9.8
23 body mass index quantitative trait locus 11 9.8
24 anorexia nervosa 9.8
25 body mass index quantitative trait locus 10 9.8
26 carney complex variant 9.8
27 body mass index quantitative trait locus 14 9.8
28 bone mineral density quantitative trait locus 15 9.8
29 body mass index quantitative trait locus 18 9.8
30 body mass index quantitative trait locus 19 9.8
31 arthritis 9.8
32 hepatitis 9.8
33 nephrolithiasis 9.8
34 ectopic cushing syndrome 9.8
35 thrombosis 9.8
36 sarcoma 9.8
37 pituitary apoplexy 9.8
38 graves' disease 9.8
39 optic nerve disease 9.8
40 craniopharyngioma 9.8
41 pneumonia 9.8
42 neuropathy 9.8
43 dermatophytosis 9.8
44 intracranial hypertension 9.8
45 hypoglycemia 9.8
46 depression 9.8
47 multiple endocrine neoplasia 9.8
48 familial isolated pituitary adenoma 9.6 AIP CDH23
49 pituitary adenoma, prolactin-secreting 9.5 AIP CDH23

Graphical network of the top 20 diseases related to Pituitary Adenoma 4, Acth-Secreting:



Diseases related to Pituitary Adenoma 4, Acth-Secreting

Symptoms & Phenotypes for Pituitary Adenoma 4, Acth-Secreting

Human phenotypes related to Pituitary Adenoma 4, Acth-Secreting:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
3 lipodystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009125
4 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
5 pituitary adenoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002893
6 truncal obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001956
7 adrenal hyperplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008221
8 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
9 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
10 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
11 hypokalemia 60 33 frequent (33%) Frequent (79-30%) HP:0002900
12 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
13 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
14 immunodeficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002721
15 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
16 acne 60 33 frequent (33%) Frequent (79-30%) HP:0001061
17 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
18 nephrolithiasis 60 33 frequent (33%) Frequent (79-30%) HP:0000787
19 recurrent fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002757
20 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
21 infertility 60 33 frequent (33%) Frequent (79-30%) HP:0000789
22 menorrhagia 60 33 frequent (33%) Frequent (79-30%) HP:0000132
23 metrorrhagia 60 33 frequent (33%) Frequent (79-30%) HP:0100608
24 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
25 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
26 aseptic necrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0010885
27 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
28 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
29 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
30 venous thrombosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004936
31 psychosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000709
32 telangiectasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0100585
33 visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000572
34 bipolar affective disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007302
35 lethargy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001254
36 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
37 generalized hyperpigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007440
38 recurrent skin infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0001581
39 onychomycosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012203
40 premature ovarian insufficiency 33 occasional (7.5%) HP:0008209
41 obesity 33 HP:0001513
42 kyphosis 33 HP:0002808
43 visual impairment 60 Occasional (29-5%)
44 skeletal muscle atrophy 33 HP:0003202
45 edema 33 HP:0000969
46 precocious menopause 60 Occasional (29-5%)
47 glucose intolerance 33 HP:0001952
48 striae distensae 33 HP:0001065
49 increased circulating acth level 33 HP:0003154
50 biconcave vertebral bodies 33 HP:0004586

Symptoms via clinical synopsis from OMIM:

58
Vascular:
hypertension

Lab:
hypokalemia
elevated plasma acth
hypochloremic alkalosis
elevated plasma cortisol
elevated urinary 17-hydroxycorticosteroids
more
Misc:
poor wound healing
central obesity

Metabolic:
impaired glucose tolerance

G U:
kidney stones

Skel:
kyphosis
osteoporosis
vertebral compression fractures
codfish vertebrae

Skin:
edema
purpura
hirsutism
ecchymoses
thin
more
Muscle:
muscle atrophy

Endocrine:
oligomnenorrhea

Neuro:
mood alterations
psychotic mentation

Clinical features from OMIM:

219090

GenomeRNAi Phenotypes related to Pituitary Adenoma 4, Acth-Secreting according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 8.8 AIP USP8
2 Decreased homologous recombination repair frequency GR00151-A-2 8.8 AIP

MGI Mouse Phenotypes related to Pituitary Adenoma 4, Acth-Secreting:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.56 AIP CDH23 GNAI2 USP8
2 growth/size/body region MP:0005378 9.46 AIP CDH23 GNAI2 USP8
3 homeostasis/metabolism MP:0005376 9.26 AIP CDH23 GNAI2 USP8
4 liver/biliary system MP:0005370 8.8 AIP GNAI2 USP8

Drugs & Therapeutics for Pituitary Adenoma 4, Acth-Secreting

Drugs for Pituitary Adenoma 4, Acth-Secreting (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pasireotide Approved Phase 4,Phase 3,Phase 2 396091-73-9 9941444
2
Somatostatin Approved, Investigational Phase 4,Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
3
Liraglutide Approved Phase 4 204656-20-2 44147092
4
Zinc Approved, Investigational Phase 4 7440-66-6 32051
5
Metformin Approved Phase 4 657-24-9 14219 4091
6
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
7 Hormones Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
8 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
10 Insulin, Globin Zinc Phase 4
11 insulin Phase 4
12 Sitagliptin Phosphate Phase 4
13 Dipeptidyl-Peptidase IV Inhibitors Phase 4
14
protease inhibitors Phase 4
15 Incretins Phase 4
16 Hypoglycemic Agents Phase 4,Phase 2
17 HIV Protease Inhibitors Phase 4
18
Racepinephrine Approved Phase 3,Phase 2,Not Applicable 329-65-7 838
19
Epinephrine Approved, Vet_approved Phase 3,Phase 2,Not Applicable 51-43-4 5816
20
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2,Not Applicable 50-23-7 5754
21
Hydrocortisone acetate Approved, Vet_approved Phase 3,Phase 2,Not Applicable 50-03-3
22
Dopamine Approved Phase 3,Phase 2 62-31-7, 51-61-6 681
23
Cabergoline Approved Phase 3,Phase 2 81409-90-7 54746
24
Mifepristone Approved, Investigational Phase 3,Phase 2,Not Applicable 84371-65-3 55245
25 Orange Approved Phase 3
26
Ketoconazole Approved, Investigational Phase 3 65277-42-1 47576
27
Octreotide Approved, Investigational Phase 3 83150-76-9 6400441 383414
28 Epinephryl borate Phase 3,Phase 2,Not Applicable
29 glucocorticoids Phase 3,Phase 2,Not Applicable
30 Hydrocortisone hemisuccinate Phase 3,Phase 2,Not Applicable
31 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2,Not Applicable
32 beta-endorphin Phase 3,Phase 2
33 Melanocyte-Stimulating Hormones Phase 3,Phase 2
34 Pharmaceutical Solutions Phase 3
35 Adrenocorticotropic Hormone Phase 3,Phase 2,Early Phase 1
36 Dopamine agonists Phase 3,Phase 2
37 Dopamine Agents Phase 3,Phase 2
38 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
39 Antiparkinson Agents Phase 3,Phase 2
40 Luteolytic Agents Phase 3,Phase 2,Not Applicable
41 Contraceptive Agents Phase 3,Phase 2,Not Applicable
42 Contraceptives, Oral Phase 3,Phase 2,Not Applicable
43 Contraceptives, Postcoital Phase 3,Phase 2,Not Applicable
44 Edotreotide Phase 3
45 Antineoplastic Agents, Hormonal Phase 3,Phase 2
46 Gastrointestinal Agents Phase 3,Phase 2
47 Radiopharmaceuticals Phase 3
48
Bexarotene Approved, Investigational Phase 1, Phase 2 153559-49-0 82146
49
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
50
Nicotinamide Approved, Investigational Phase 2 98-92-0 936

Interventional clinical trials:

(show top 50) (show all 69)
# 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 Completed 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 Exploring the Effects of Corticosteroids on the Human Hippocampus Not yet recruiting NCT03896659 Phase 4 Hydrocortisone Oral;Placebo Oral Tablet
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 Pasireotide
6 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
7 Efficacy and Safety of Pasireotide Administered Monthly in Patients With Cushing's Disease Completed NCT01374906 Phase 3 pasireotide LAR;SOM230 LAR 30 mg;SOM230 LAR 10 mg
8 Study of Cabergoline in Treatment of Corticotroph Pituitary Tumor Completed NCT00889525 Phase 3 Cabergoline
9 Compassionate Use of CORLUX® (Mifepristone) in the Treatment of Signs and Symptoms of Endogenous Cushing's Syndrome Completed NCT01371565 Phase 3 Mifepristone
10 An Extension Study of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00936741 Phase 3 mifepristone
11 A Study of the Efficacy and Safety of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00569582 Phase 3 mifepristone
12 Efficacy and Safety Evaluation of Osilodrostat in Cushing's Disease Recruiting NCT02697734 Phase 3 osilodrostat;osilodrostat Placebo
13 Open-label Treatment in Cushing's Syndrome Recruiting NCT03621280 Phase 3 Levoketoconazole
14 Ga-68-DOTATOC -PET in the Management of Pituitary Tumours Recruiting NCT02419664 Phase 3
15 A Study of the Efficacy and Safety of Relacorilant in Patients With Endogenous Cushing Syndrome Recruiting NCT03697109 Phase 3 Relacorilant
16 Safety and Efficacy of LCI699 for the Treatment of Patients With Cushing's Disease Active, not recruiting NCT02180217 Phase 3 LCI699;LCI699 matching placebo
17 Mifepristone in Children With Refractory Cushing's Disease Withdrawn NCT01925092 Phase 3 mifepristone
18 Preoperative Bexarotene Treatment for Cushing's Disease Unknown status NCT00845351 Phase 1, Phase 2 Bexarotene
19 Targeted Therapy With Gefitinib in Patients With USP8-mutated Cushing's Disease Unknown status NCT02484755 Phase 2 Gefitinib
20 Reduction by Pasireotide of the Effluent Volume in High-output Enterostomy in Patients Refractory to Usual Medical Treatment Unknown status NCT02713776 Phase 2 Pasireotide;Placebo
21 Extension Study to Assess the Safety and Efficacy of Pasireotide in Patients With Cushing's Disease Completed NCT00171951 Phase 2 Pasireotide
22 A Study to Assess SOM230 in Patients With Pituitary Cushing's Disease Completed NCT00088608 Phase 2 SOM230 s.c.
23 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Completed NCT02468193 Phase 2 Osilodrostat
24 Study to Evaluate CORT125134 in Patients With Cushing's Syndrome Completed NCT02804750 Phase 2 CORT125134
25 Multicenter Study of Seliciclib (R-roscovitine) for Cushing Disease Recruiting NCT03774446 Phase 2 Seliciclib
26 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition Recruiting NCT03111810 Phase 2 AZD4017 and prednisolone;Placebo Oral Tablet and prednisolone
27 Extension Study to Evaluate the Safety and Clinical Benefit of Long-Term Use of Relacorilant in Patients With Cushing Syndrome Recruiting NCT03604198 Phase 2 relacorilant
28 Phase 1/2 Study of LOXO-292 in Patients With Advanced Solid Tumors, RET Fusion-Positive Solid Tumors, and Medullary Thyroid Cancer Recruiting NCT03157128 Phase 1, Phase 2 LOXO-292
29 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
30 Safety and Efficacy of LCI699 in Cushing's Disease Patients. Active, not recruiting NCT01331239 Phase 2 LCI699
31 Pharmacokinetic (PK), Pharmacodynamic (PD) and Tolerability of Osilodrostat in Pediatric Patients With Cushing's Disease Not yet recruiting NCT03708900 Phase 2 LCI699
32 Treatment of Cushing's Disease With R-roscovitine Terminated NCT02160730 Phase 2 R-roscovitine
33 Rosiglitazone in Treating Patients With Newly Diagnosed ACTH-Secreting Pituitary Tumor (Cushing Disease) Terminated NCT00612066 Phase 2 rosiglitazone maleate
34 Rosiglitazone in Treating Patients With Pituitary Tumors Terminated NCT00616642 Phase 2 rosiglitazone maleate
35 Pasireotide Therapy in Patients With Nelson's Syndrome Terminated NCT01617733 Phase 2 Pasireotide
36 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 Mifepristone
37 Phase II Study of SOM230 in Patients With Recurrent or Progressive Meningioma Terminated NCT00813592 Phase 2 SOM230B
38 Study of Pasireotide in Patients With Rare Tumors of Neuroendocrine Origin Terminated NCT00958841 Phase 2 pasireotide LAR
39 SOM230 Ectopic ACTH-producing Tumors Withdrawn NCT02780882 Phase 2 Pasireotide
40 Assessment of Persistent Cognitive Impairment After Cure of Cushing's Disease Unknown status NCT02603653 Not Applicable
41 Study of Depression, Peptides, and Steroids in Cushing's Syndrome Unknown status NCT00004334
42 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Unknown status NCT02810496 Not Applicable
43 Anesthesia Management of Retroperitoneal Adrenalectomies Unknown status NCT00894335
44 Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education Tools Unknown status NCT01775332 Not Applicable
45 The Factors Associated With the Recurrence in Patients With Cushing Disease Completed NCT02233335
46 Cognition, Steroids, and Imaging in Cushings Disease Completed NCT00081341
47 Effects of Hormone Stimulation on Brain Scans for Cushing s Disease Completed NCT01459237 Early Phase 1 Acthrel
48 Jugular Vein Sampling for Hormone Levels for the Diagnosis of Cushing Syndrome Completed NCT00001453
49 Examination of Brain Serotonin Receptors in Patients With Mood Disorders Completed NCT00026832
50 Rhinological Outcomes in Endonasal Pituitary Surgery Completed NCT01504399

Search NIH Clinical Center for Pituitary Adenoma 4, Acth-Secreting

Genetic Tests for Pituitary Adenoma 4, Acth-Secreting

Anatomical Context for Pituitary Adenoma 4, Acth-Secreting

MalaCards organs/tissues related to Pituitary Adenoma 4, Acth-Secreting:

42
Pituitary, Bone, Adrenal Gland, Skin, Brain, Kidney, Testes

Publications for Pituitary Adenoma 4, Acth-Secreting

Articles related to Pituitary Adenoma 4, Acth-Secreting:

(show top 50) (show all 221)
# Title Authors Year
1
Outcomes after Gamma knife Stereotactic Radiosurgery in pediatric patients with Cushing's disease or Acromegaly: A multi-institutional study. ( 30790739 )
2019
2
Tumor-Directed Therapeutic Targets in Cushing Disease. ( 30535260 )
2019
3
Plasma Agouti-Related Protein and Cortisol Levels in Cushing Disease: Evidence for the Regulation of Agouti-Related Protein by Glucocorticoids in Humans. ( 30597030 )
2019
4
Optical Imaging Technology: A Useful Tool to Identify Remission in Cushing Disease After Surgery. ( 30602178 )
2019
5
Recovery of the adrenal function after pituitary surgery in patients with Cushing Disease: persistent remission or recurrence? ( 30636245 )
2019
6
Correction: Optical Imaging Technology: A Useful Tool to Identify Remission in Cushing Disease After Surgery. ( 30641579 )
2019
7
Endocrine Remission After Pituitary Stereotactic Radiosurgery: Differences in Rates of Response for Matched Cohorts of Cushing Disease and Acromegaly Patients. ( 29678528 )
2018
8
Severe Hypercortisolism with Hypokalemic Alkalosis Mimicking Ectopic Cushing Syndrome in a Patient with Cushing Disease Due to Pituitary Microadenoma. ( 30766837 )
2018
9
Management of Cerebral Venous and Sinus Thrombosis Following Transsphenoidal Surgery for Cushing Disease During Early Postoperative Period: Uncommon Neurosurgical Complication. ( 29499593 )
2018
10
Long-term outcomes of tissue-based ACTH-antibody assay-guided transsphenoidal resection of pituitary adenomas in Cushing disease. ( 29027854 )
2018
11
The Value of Perioperative Levels of ACTH, DHEA, and DHEA-S and Tumor Size in Predicting Recurrence of Cushing Disease. ( 29244084 )
2018
12
Variability of Late-Night Salivary Cortisol in Cushing Disease: A Prospective Study. ( 29329418 )
2018
13
CyberKnife Radiosurgery in the Multimodal Management of Patients with Cushing Disease. ( 29355797 )
2018
14
Technique of Whole-Sellar Stereotactic Radiosurgery for Cushing Disease: Results from a Multicenter, International Cohort Study. ( 29783006 )
2018
15
New Insights in Cushing Disease Treatment With Focus on a Derivative of Vitamin A. ( 29881371 )
2018
16
Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease. ( 29927501 )
2018
17
Outcome of Transsphenoidal Surgery for Cushing Disease: A Single-Center Experience over 20 Years. ( 30031194 )
2018
18
PATHOGENESIS OF CUSHING DISEASE: AN UPDATE ON THE GENETICS OF CORTICOTROPINOMAS. ( 30084690 )
2018
19
Cell Cycle Regulators and Lineage-Specific Therapeutic Targets for Cushing Disease. ( 30147673 )
2018
20
Hypothalamic Vasopressin-producing Tumors: Often Inappropriate Diuresis But Occasionally Cushing Disease. ( 30379651 )
2018
21
Neurosurgical treatment of Cushing disease in pediatric patients: case series and review of literature. ( 30488233 )
2018
22
<i>PRKAR1A</i> mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. ( 28522647 )
2017
23
Case report of a bilateral adrenal myelolipoma associated with Cushing disease. ( 29384929 )
2017
24
Somatic USP8 gene mutations are a common cause of pediatric Cushing disease. ( 28505279 )
2017
25
A rare case of spontaneous Cushing disease remission induced by pituitary apoplexy. ( 28251551 )
2017
26
A rare association: Cushing disease and central serous chorioretinopathy. ( 28457311 )
2017
27
Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B. ( 28435794 )
2017
28
Hypercoagulability in patients with Cushing disease detected by thrombin generation assay is associated with increased levels of neutrophil extracellular trap-related factors. ( 27448294 )
2017
29
Factors predicting the duration of adrenal insufficiency in patients successfully treated for Cushing disease and nonmalignant primary adrenal Cushing syndrome. ( 27395418 )
2017
30
Endoscopic Endonasal Surgery for Remission of Cushing Disease Caused by Ectopic Intracavernous Macroadenoma: Case Report and Literature Review. ( 28003168 )
2017
31
Rapid Deterioration of Latent HBV Hepatitis during Cushing Disease and Posttraumatic Stress Disorder after Earthquake. ( 28183144 )
2017
32
Normalized Early Postoperative Cortisol and ACTH Values Predict Nonremission After Surgery for Cushing Disease. ( 28323961 )
2017
33
LONG-TERM OUTCOME OF THE DIFFERENT TREATMENT ALTERNATIVES FOR RECURRENT AND PERSISTENT CUSHING DISEASE. ( 28332874 )
2017
34
Diabetes in Cushing Disease. ( 28364356 )
2017
35
Pediatric Cushing disease: disparities in disease severity and outcomes in the Hispanic and African-American populations. ( 28422946 )
2017
36
Histone Deacetylase Inhibitor SAHA Is a Promising Treatment of Cushing Disease. ( 28505327 )
2017
37
Recent advances in understanding Cushing disease: resistance to glucocorticoid negative feedback and somatic USP8 mutations. ( 28529722 )
2017
38
BIOCHEMICAL CONTROL DURING LONG-TERM FOLLOW-UP OF 230 ADULT PATIENTS WITH CUSHING DISEASE: A MULTICENTER RETROSPECTIVE STUDY. ( 28614003 )
2017
39
Outcomes of Primary Transsphenoidal Surgery in Cushing Disease: Experience of a Tertiary Center. ( 28711536 )
2017
40
Otolaryngic manifestations of Cushing disease. ( 28846797 )
2017
41
Cushing Disease: Are We Making Progress? ( 28899077 )
2017
42
Stereotactic Radiosurgery for Cushing Disease: Results of an International, Multicenter Study. ( 28938462 )
2017
43
Pituitary gland: Gamma Knife for Cushing disease - time for a reappraisal? ( 29019347 )
2017
44
A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture. ( 29025207 )
2017
45
The Molecular Pathology of Cushing Disease: Are We Nearly There? ( 29264473 )
2017
46
Outcome of Microscopic Transsphenoidal Surgery in Cushing Disease: A Case Series of 96 Patients. ( 26704208 )
2016
47
The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease. ( 26695862 )
2016
48
A patient with Cushing disease lateralizing a pituitary adenoma by inferior petrosal sinus sampling using desmopressin: a case report. ( 27104179 )
2016
49
Idiopathic intracranial hypertension following surgical treatment of Cushing disease: case report and review of management strategies. ( 27633717 )
2016
50
Advancing Treatment of Pituitary Adenomas through Targeted Molecular Therapies: The Acromegaly and Cushing Disease Paradigms. ( 27517036 )
2016

Variations for Pituitary Adenoma 4, Acth-Secreting

ClinVar genetic disease variations for Pituitary Adenoma 4, Acth-Secreting:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 USP8 NM_005154.4(USP8): c.2138T> G (p.Leu713Arg) single nucleotide variant no interpretation for the single variant rs672601309 GRCh38 Chromosome 15, 50490429: 50490429
2 USP8 NM_005154.4(USP8): c.2138T> G (p.Leu713Arg) single nucleotide variant no interpretation for the single variant rs672601309 GRCh37 Chromosome 15, 50782626: 50782626
3 USP8 NM_005154.4(USP8): c.2150A> G (p.Tyr717Cys) single nucleotide variant no interpretation for the single variant rs672601310 GRCh38 Chromosome 15, 50490441: 50490441
4 USP8 NM_005154.4(USP8): c.2150A> G (p.Tyr717Cys) single nucleotide variant no interpretation for the single variant rs672601310 GRCh37 Chromosome 15, 50782638: 50782638
5 USP8 NM_005154.4(USP8): c.2152T> C (p.Ser718Pro) single nucleotide variant Pathogenic rs672601307 GRCh38 Chromosome 15, 50490443: 50490443
6 USP8 NM_005154.4(USP8): c.2152T> C (p.Ser718Pro) single nucleotide variant Pathogenic rs672601307 GRCh37 Chromosome 15, 50782640: 50782640
7 USP8 NM_005154.4(USP8): c.2153C> G (p.Ser718Cys) single nucleotide variant Pathogenic rs672601308 GRCh38 Chromosome 15, 50490444: 50490444
8 USP8 NM_005154.4(USP8): c.2153C> G (p.Ser718Cys) single nucleotide variant Pathogenic rs672601308 GRCh37 Chromosome 15, 50782641: 50782641
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.2155_2157delTCC (p.Ser719del) deletion Pathogenic rs672601306 GRCh37 Chromosome 15, 50782643: 50782645
11 USP8 NM_005154.4(USP8): c.2159C> G (p.Pro720Arg) single nucleotide variant Pathogenic rs672601311 GRCh38 Chromosome 15, 50490450: 50490450
12 USP8 NM_005154.4(USP8): c.2159C> G (p.Pro720Arg) single nucleotide variant Pathogenic rs672601311 GRCh37 Chromosome 15, 50782647: 50782647
13 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant drug response rs104894190 GRCh37 Chromosome 11, 67258382: 67258382
14 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant drug response rs104894190 GRCh38 Chromosome 11, 67490911: 67490911
15 GNAI2 NM_002070.3(GNAI2): c.535C> G (p.Arg179Gly) single nucleotide variant Pathogenic rs137853226 GRCh37 Chromosome 3, 50293694: 50293694
16 GNAI2 NM_002070.3(GNAI2): c.535C> G (p.Arg179Gly) single nucleotide variant Pathogenic rs137853226 GRCh38 Chromosome 3, 50256262: 50256262

Cosmic variations for Pituitary Adenoma 4, Acth-Secreting:

9 (show all 48)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1749198 USP8 pituitary,NS,adenoma,ACTH c.2159C>G p.P720R 15:50490450-50490450 0
2 COSM4997287 USP8 pituitary,NS,adenoma,ACTH c.2152T>C p.S718P 15:50490443-50490443 0
3 COSM416905 USP8 pituitary,NS,adenoma,ACTH c.2159C>A p.P720Q 15:50490450-50490450 0
4 COSM6995415 USP8 pituitary,NS,adenoma,ACTH c.2147C>A p.S716Y 15:50490438-50490438 0
5 COSM5967228 USP8 pituitary,NS,adenoma,ACTH c.2155T>C p.S719P 15:50490446-50490446 0
6 COSM3501986 USP8 pituitary,NS,adenoma,ACTH c.2147C>T p.S716F 15:50490438-50490438 0
7 COSM5967229 USP8 pituitary,NS,adenoma,ACTH c.2153C>T p.S718F 15:50490444-50490444 0
8 COSM11071 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.1009C>T p.R337C 17:7670700-7670700 0
9 COSM44175 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.644G>C p.S215T 17:7674887-7674887 0
10 COSM45444 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.587G>T p.R196L 17:7674944-7674944 0
11 COSM43555 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.736A>G p.M246V 17:7674227-7674227 0
12 COSM43931 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.523C>A p.R175S 17:7675089-7675089 0
13 COSM11286 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.1015G>T p.E339* 17:7670694-7670694 0
14 COSM10801 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.404G>A p.C135Y 17:7675208-7675208 0
15 COSM10659 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.817C>T p.R273C 17:7673803-7673803 0
16 COSM5991542 STAG2 pituitary,NS,adenoma,ACTH c.1363G>C p.G455R 23:124057924-124057924 0
17 COSM326321 RB1 adrenal gland,adrenal gland,adrenal cortical carcinoma,cortisol producing c.1994T>G p.L665R 13:48459721-48459721 0
18 COSM225014 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1960G>A p.V654M 13:48456349-48456349 0
19 COSM4167506 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.617T>G p.L206R 19:14097604-14097604 0
20 COSM28544 PIK3CA pituitary,NS,adenoma,ACTH c.3026G>A p.G1009E 3:179234183-179234183 0
21 COSM303944 PIK3CA pituitary,NS,adenoma,ACTH c.2984C>A p.A995D 3:179234141-179234141 0
22 COSM22589 MEN1 pituitary,NS,adenoma,ACTH c.1230C>A p.F410L 11:64805154-64805154 0
23 COSM4445247 MEN1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.812G>C p.G271A 11:64807191-64807191 0
24 COSM4445249 MEN1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.808C>A p.L270M 11:64807195-64807195 0
25 COSM4445248 MEN1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.1132G>T p.E378* 11:64805688-64805688 0
26 COSM4445246 MED12 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.4857G>T p.K1619N 23:71134842-71134842 0
27 COSM482 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 11:534289-534289 0
28 COSM27887 GNAS pituitary,NS,adenoma,ACTH c.601C>T p.R201C 20:58909365-58909365 0
29 COSM27896 GNAS pituitary,NS,adenoma,ACTH c.680A>G p.Q227R 20:58909541-58909541 0
30 COSM27899 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.601C>A p.R201S 20:58909365-58909365 0
31 COSM27895 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.602G>A p.R201H 20:58909366-58909366 0
32 COSM4962873 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.679C>G p.Q227E 20:58909540-58909540 0
33 COSM5669 CTNNB1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.98C>T p.S33F 3:41224610-41224610 0
34 COSM5663 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.133T>C p.S45P 3:41224645-41224645 0
35 COSM5693 CTNNB1 adrenal gland,adrenal gland,adrenal cortical carcinoma,cortisol producing c.118A>G p.T40A 3:41224630-41224630 0
36 COSM5689 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>G p.S45C 3:41224646-41224646 0
37 COSM5678 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.107A>C p.H36P 3:41224619-41224619 0
38 COSM5667 CTNNB1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.134C>T p.S45F 3:41224646-41224646 0
39 COSM5664 CTNNB1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.121A>G p.T41A 3:41224633-41224633 0
40 COSM5686 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.100G>A p.G34R 3:41224612-41224612 0
41 COSM5679 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.110C>G p.S37C 3:41224622-41224622 0
42 COSM5672 CTNNB1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.94G>A p.D32N 3:41224606-41224606 0
43 COSM17661 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.130C>G p.P44A 3:41224642-41224642 0
44 COSM5988492 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.101G>C p.G34A 3:41224613-41224613 0
45 COSM5681 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.95A>G p.D32G 3:41224607-41224607 0
46 COSM476 BRAF adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1799T>A p.V600E 7:140753336-140753336 0
47 COSM5991541 BCOR pituitary,NS,adenoma,ACTH c.283G>A p.G95R 23:40075063-40075063 0
48 COSM4440759 APC adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.232G>T p.D78Y 5:112767200-112767200 0

Expression for Pituitary Adenoma 4, Acth-Secreting

Search GEO for disease gene expression data for Pituitary Adenoma 4, Acth-Secreting.

Pathways for Pituitary Adenoma 4, Acth-Secreting

Pathways related to Pituitary Adenoma 4, Acth-Secreting according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.55 CDH23 GNAI2
2
Show member pathways
11.19 CDH23 GNAI2
3
Show member pathways
10.91 CDH23 GNAI2
4 10.61 CDH23 GNAI2

GO Terms for Pituitary Adenoma 4, Acth-Secreting

Cellular components related to Pituitary Adenoma 4, Acth-Secreting according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 midbody GO:0030496 8.62 GNAI2 USP8

Sources for Pituitary Adenoma 4, Acth-Secreting

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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