PITA4
MCID: PTT057
MIFTS: 53

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 57 75
Cushing Disease 59 75
Pita4 57 75
Pituitary Adenoma 4, Acth-Secreting, Somatic 57
Pituitary-Dependent Cushing's Disease 73
Pituitary Corticotroph Micro-Adenoma 59
Pituitary-Dependent Cushing Syndrome 59
Corticotroph Pituitary Adenoma 59
Cushing Disease, Pituitary 57
Pituitary Cushing Disease 75

Characteristics:

Orphanet epidemiological data:

59
cushing disease
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive vs. dominant men1


Classifications:



Summaries for Pituitary Adenoma 4, 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 4, Acth-Secreting, also known as cushing disease, is related to pituitary-dependent cushing's disease and pituitary adenoma 1, multiple types. 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 Cushing syndrome. 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 depressivity and diabetes mellitus

OMIM : 57 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 : 75 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 43)
# Related Disease Score Top Affiliating Genes
1 pituitary-dependent cushing's disease 11.3
2 pituitary adenoma 1, multiple types 11.2
3 acth-independent macronodular adrenal hyperplasia 11.1
4 lipodystrophy, familial partial, type 2 10.9
5 familial partial lipodystrophy 10.9
6 primary pigmented nodular adrenocortical disease 10.9
7 pituitary adenoma 10.5
8 adenoma 10.5
9 familial glucocorticoid deficiency 10.1
10 acth-secreting pituitary adenoma 10.1
11 acromegaly 10.1
12 nelson syndrome 9.9
13 dilated cardiomyopathy 9.8
14 conn's syndrome 9.8
15 central serous chorioretinopathy 9.8
16 kaposi sarcoma 9.7
17 multiple endocrine neoplasia, type iib 9.7
18 nephrolithiasis, calcium oxalate 9.7
19 triiodothyronine receptor auxiliary protein 9.7
20 body mass index quantitative trait locus 11 9.7
21 anorexia nervosa 9.7
22 body mass index quantitative trait locus 10 9.7
23 carney complex variant 9.7
24 body mass index quantitative trait locus 14 9.7
25 bone mineral density quantitative trait locus 15 9.7
26 body mass index quantitative trait locus 18 9.7
27 body mass index quantitative trait locus 19 9.7
28 arthritis 9.7
29 hepatitis 9.7
30 nephrolithiasis 9.7
31 thrombosis 9.7
32 sarcoma 9.7
33 pituitary apoplexy 9.7
34 graves' disease 9.7
35 optic nerve disease 9.7
36 craniopharyngioma 9.7
37 pneumonia 9.7
38 neuropathy 9.7
39 dermatophytosis 9.7
40 intracranial hypertension 9.7
41 hypoglycemia 9.7
42 depression 9.7
43 multiple endocrine neoplasia 9.7

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
3 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
6 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
7 aseptic necrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010885
8 hypokalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002900
9 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
10 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
11 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
12 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
13 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
14 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
15 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
16 acne 59 32 frequent (33%) Frequent (79-30%) HP:0001061
17 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
18 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
19 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004936
20 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
21 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
22 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
23 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
24 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
25 bipolar affective disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007302
26 nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0000787
27 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
28 pituitary adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002893
29 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
30 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
31 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
32 infertility 59 32 frequent (33%) Frequent (79-30%) HP:0000789
33 generalized hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007440
34 truncal obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001956
35 recurrent skin infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0001581
36 menorrhagia 59 32 frequent (33%) Frequent (79-30%) HP:0000132
37 metrorrhagia 59 32 frequent (33%) Frequent (79-30%) HP:0100608
38 adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008221
39 onychomycosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012203
40 obesity 32 HP:0001513
41 kyphosis 32 HP:0002808
42 visual impairment 59 Occasional (29-5%)
43 skeletal muscle atrophy 32 HP:0003202
44 edema 32 HP:0000969
45 premature ovarian insufficiency 32 occasional (7.5%) HP:0008209
46 precocious menopause 59 Occasional (29-5%)
47 glucose intolerance 32 HP:0000833
48 striae distensae 32 HP:0001065
49 increased circulating acth level 32 HP:0003154
50 biconcave vertebral bodies 32 HP:0004586

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 121)
# 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 51110-01-1, 38916-34-6 53481605
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Zinc Approved, Investigational Phase 4 7440-66-6
5
Liraglutide Approved Phase 4 204656-20-2 44147092
6
Lactitol Investigational Phase 4 585-86-4 3871
7 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
9 Hormones Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
10 Insulin, Globin Zinc Phase 4
11 insulin Phase 4
12
protease inhibitors Phase 4
13 Sitagliptin Phosphate Phase 4
14 Incretins Phase 4
15 Hypoglycemic Agents Phase 4,Phase 2
16 Dipeptidyl-Peptidase IV Inhibitors Phase 4
17 HIV Protease Inhibitors Phase 4
18
Mifepristone Approved, Investigational Phase 3,Phase 2,Not Applicable 84371-65-3 55245
19
Racepinephrine Approved Phase 3,Phase 2,Not Applicable 329-65-7 838
20
Epinephrine Approved, Vet_approved Phase 3,Phase 2,Not Applicable 51-43-4 5816
21
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2,Not Applicable 50-23-7 5754
22
Hydrocortisone acetate Approved, Vet_approved Phase 3,Phase 2,Not Applicable 50-03-3
23
Cabergoline Approved Phase 3,Phase 2 81409-90-7 54746
24
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
25 Orange Approved Phase 3
26
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
27
Ketoconazole Approved, Investigational Phase 3 65277-42-1 3823 47576
28 Contraceptive Agents Phase 3,Phase 2,Not Applicable
29 Contraceptives, Oral Phase 3,Phase 2,Not Applicable
30 Contraceptives, Postcoital Phase 3,Phase 2,Not Applicable
31 Luteolytic Agents Phase 3,Phase 2,Not Applicable
32 Epinephryl borate Phase 3,Phase 2,Not Applicable
33 glucocorticoids Phase 3,Phase 2,Not Applicable
34 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2,Not Applicable
35 Cortisol succinate Phase 3,Phase 2,Not Applicable
36 beta-endorphin Phase 3,Phase 2
37 Pharmaceutical Solutions Phase 3
38 Melanocyte-Stimulating Hormones Phase 3,Phase 2
39 Adrenocorticotropic Hormone Phase 3,Phase 2,Early Phase 1
40 Dopamine agonists Phase 3,Phase 2
41 Antiparkinson Agents Phase 3,Phase 2
42 Dopamine Agents Phase 3,Phase 2
43 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
44 Radiopharmaceuticals Phase 3
45 Antineoplastic Agents, Hormonal Phase 3,Phase 2
46 Gastrointestinal Agents Phase 3,Phase 2
47 Edotreotide 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 65)
# 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 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
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
6 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
7 Study of Cabergoline in Treatment of Corticotroph Pituitary Tumor Completed NCT00889525 Phase 3 Cabergoline
8 Compassionate Use of CORLUX® (Mifepristone) in the Treatment of Signs and Symptoms of Endogenous Cushing's Syndrome Completed NCT01371565 Phase 3 Mifepristone
9 An Extension Study of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00936741 Phase 3 mifepristone
10 A Study of the Efficacy and Safety of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00569582 Phase 3 mifepristone
11 Efficacy and Safety Evaluation of Osilodrostat in Cushing's Disease Recruiting NCT02697734 Phase 3 osilodrostat;osilodrostat Placebo
12 Ga-68-DOTATOC -PET in the Management of Pituitary Tumours Recruiting NCT02419664 Phase 3
13 A Study of the Efficacy and Safety of Relacorilant Recruiting NCT03697109 Phase 3 Relacorilant
14 Safety and Efficacy of LCI699 for the Treatment of Patients With Cushing's Disease Active, not recruiting NCT02180217 Phase 3 LCI699;LCI699 matching placebo
15 Open-label Treatment in Cushing's Syndrome Not yet recruiting NCT03621280 Phase 3 Levoketoconazole
16 Mifepristone in Children With Refractory Cushing's Disease Withdrawn NCT01925092 Phase 3 mifepristone
17 Preoperative Bexarotene Treatment for Cushing's Disease Unknown status NCT00845351 Phase 1, Phase 2 Bexarotene
18 Targeted Therapy With Gefitinib in Patients With USP8-mutated Cushing's Disease Unknown status NCT02484755 Phase 2 Gefitinib
19 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
20 Extension Study to Assess the Safety and Efficacy of Pasireotide in Patients With Cushing's Disease Completed NCT00171951 Phase 2 Pasireotide
21 A Study to Assess SOM230 in Patients With Pituitary Cushing's Disease Completed NCT00088608 Phase 2 SOM230 s.c.
22 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Completed NCT02468193 Phase 2 Osilodrostat
23 Study to Evaluate CORT125134 in Patients With Cushing's Syndrome Completed NCT02804750 Phase 2 CORT125134
24 Multicenter Study of Seliciclib (R-roscovitine) for Cushing Disease Recruiting NCT03774446 Phase 2 Seliciclib
25 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition Recruiting NCT03111810 Phase 2 AZD4017 and prednisolone;Placebo Oral Tablet and prednisolone
26 Targeted Therapy With Lapatinib in Patients With Recurrent Pituitary Tumors Resistant to Standard Therapy Recruiting NCT00939523 Phase 2 Lapatinib
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 SOM230 Ectopic ACTH-producing Tumors Withdrawn NCT02780882 Phase 2 Pasireotide
39 Assessment of Persistent Cognitive Impairment After Cure of Cushing's Disease Unknown status NCT02603653 Not Applicable
40 Study of Depression, Peptides, and Steroids in Cushing's Syndrome Unknown status NCT00004334
41 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Unknown status NCT02810496 Not Applicable
42 Mifepristone for Breast Cancer Patients With Higher Levels of Progesterone Receptor Isoform A Than Isoform B. Unknown status NCT02651844 Not Applicable Mifepristone
43 Anesthesia Management of Retroperitoneal Adrenalectomies Unknown status NCT00894335
44 The Factors Associated With the Recurrence in Patients With Cushing Disease Completed NCT02233335
45 Cognition, Steroids, and Imaging in Cushings Disease Completed NCT00081341
46 Effects of Hormone Stimulation on Brain Scans for Cushing s Disease Completed NCT01459237 Early Phase 1 Acthrel
47 Jugular Vein Sampling for Hormone Levels for the Diagnosis of Cushing Syndrome Completed NCT00001453
48 Examination of Brain Serotonin Receptors in Patients With Mood Disorders Completed NCT00026832
49 Rhinological Outcomes in Endonasal Pituitary Surgery Completed NCT01504399
50 Obesity as a Risk Factor for Musculoskeletal Diseases in the U.S. Air Force: Associations and Implications for Force Readiness Completed NCT01613001

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:

41
Pituitary, Bone, Adrenal Gland, Skin, Kidney, Testes, Skeletal Muscle

Publications for Pituitary Adenoma 4, Acth-Secreting

Articles related to Pituitary Adenoma 4, Acth-Secreting:

(show top 50) (show all 214)
# Title Authors Year
1
Endocrine Remission After Pituitary Stereotactic Radiosurgery: Differences in Rates of Response for Matched Cohorts of Cushing Disease and Acromegaly Patients. ( 29678528 )
2018
2
The Value of Perioperative Levels of ACTH, DHEA, and DHEA-S and Tumor Size in Predicting Recurrence of Cushing Disease. ( 29244084 )
2018
3
Variability of Late-Night Salivary Cortisol in Cushing Disease: A Prospective Study. ( 29329418 )
2018
4
CyberKnife Radiosurgery in the Multimodal Management of Patients with Cushing Disease. ( 29355797 )
2018
5
Management of Cerebral Venous and Sinus Thrombosis Following Transsphenoidal Surgery for Cushing Disease During Early Postoperative Period: Uncommon Neurosurgical Complication. ( 29499593 )
2018
6
Technique of Whole-Sellar Stereotactic Radiosurgery for Cushing Disease: Results from a Multicenter, International Cohort Study. ( 29783006 )
2018
7
New Insights in Cushing Disease Treatment With Focus on a Derivative of Vitamin A. ( 29881371 )
2018
8
Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease. ( 29927501 )
2018
9
Outcome of Transsphenoidal Surgery for Cushing Disease: A Single-Center Experience over 20 Years. ( 30031194 )
2018
10
PATHOGENESIS OF CUSHING DISEASE: AN UPDATE ON THE GENETICS OF CORTICOTROPINOMAS. ( 30084690 )
2018
11
Cell Cycle Regulators and Lineage-Specific Therapeutic Targets for Cushing Disease. ( 30147673 )
2018
12
Hypothalamic Vasopressin-producing Tumors: Often Inappropriate Diuresis But Occasionally Cushing Disease. ( 30379651 )
2018
13
Neurosurgical treatment of Cushing disease in pediatric patients: case series and review of literature. ( 30488233 )
2018
14
Tumor-directed therapeutic targets in Cushing disease. ( 30535260 )
2018
15
Long-term outcomes of tissue-based ACTH-antibody assay-guided transsphenoidal resection of pituitary adenomas in Cushing disease. ( 29027854 )
2018
16
<i>PRKAR1A</i> mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. ( 28522647 )
2017
17
Case report of a bilateral adrenal myelolipoma associated with Cushing disease. ( 29384929 )
2017
18
Somatic USP8 gene mutations are a common cause of pediatric Cushing disease. ( 28505279 )
2017
19
A rare case of spontaneous Cushing disease remission induced by pituitary apoplexy. ( 28251551 )
2017
20
A rare association: Cushing disease and central serous chorioretinopathy. ( 28457311 )
2017
21
Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B. ( 28435794 )
2017
22
Hypercoagulability in patients with Cushing disease detected by thrombin generation assay is associated with increased levels of neutrophil extracellular trap-related factors. ( 27448294 )
2017
23
The Molecular Pathology of Cushing Disease: Are We Nearly There? ( 29264473 )
2017
24
Factors predicting the duration of adrenal insufficiency in patients successfully treated for Cushing disease and nonmalignant primary adrenal Cushing syndrome. ( 27395418 )
2017
25
Endoscopic Endonasal Surgery for Remission of Cushing Disease Caused by Ectopic Intracavernous Macroadenoma: Case Report and Literature Review. ( 28003168 )
2017
26
Rapid Deterioration of Latent HBV Hepatitis during Cushing Disease and Posttraumatic Stress Disorder after Earthquake. ( 28183144 )
2017
27
Normalized Early Postoperative Cortisol and ACTH Values Predict Nonremission After Surgery for Cushing Disease. ( 28323961 )
2017
28
LONG-TERM OUTCOME OF THE DIFFERENT TREATMENT ALTERNATIVES FOR RECURRENT AND PERSISTENT CUSHING DISEASE. ( 28332874 )
2017
29
Diabetes in Cushing Disease. ( 28364356 )
2017
30
Pediatric Cushing disease: disparities in disease severity and outcomes in the Hispanic and African-American populations. ( 28422946 )
2017
31
Histone Deacetylase Inhibitor SAHA Is a Promising Treatment of Cushing Disease. ( 28505327 )
2017
32
Recent advances in understanding Cushing disease: resistance to glucocorticoid negative feedback and somatic USP8 mutations. ( 28529722 )
2017
33
BIOCHEMICAL CONTROL DURING LONG-TERM FOLLOW-UP OF 230 ADULT PATIENTS WITH CUSHING DISEASE: A MULTICENTER RETROSPECTIVE STUDY. ( 28614003 )
2017
34
Outcomes of Primary Transsphenoidal Surgery in Cushing Disease: Experience of a Tertiary Center. ( 28711536 )
2017
35
Otolaryngic manifestations of Cushing disease. ( 28846797 )
2017
36
Cushing Disease: Are We Making Progress? ( 28899077 )
2017
37
Stereotactic Radiosurgery for Cushing Disease: Results of an International, Multicenter Study. ( 28938462 )
2017
38
Pituitary gland: Gamma Knife for Cushing disease - time for a reappraisal? ( 29019347 )
2017
39
A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture. ( 29025207 )
2017
40
Outcome of Microscopic Transsphenoidal Surgery in Cushing Disease: A Case Series of 96 Patients. ( 26704208 )
2016
41
The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease. ( 26695862 )
2016
42
A patient with Cushing disease lateralizing a pituitary adenoma by inferior petrosal sinus sampling using desmopressin: a case report. ( 27104179 )
2016
43
Idiopathic intracranial hypertension following surgical treatment of Cushing disease: case report and review of management strategies. ( 27633717 )
2016
44
Advancing Treatment of Pituitary Adenomas through Targeted Molecular Therapies: The Acromegaly and Cushing Disease Paradigms. ( 27517036 )
2016
45
Kidney Stones as an Underrecognized Clinical Sign in Pediatric Cushing Disease. ( 26703870 )
2016
46
Outcome of Transsphenoidal Surgery for Cushing Disease: A Single-Center Experience Over 32 Years. ( 26348007 )
2016
47
Performance of the 4-mg intravenous dexamethasone suppression test in differentiating Cushing disease from pseudo-Cushing syndrome. ( 26656734 )
2016
48
Utility of Exposure-Response Analysis in Regulatory Decision on the Selection of Starting Dose of Pasireotide for Cushing Disease. ( 26686944 )
2016
49
PREDICTORS OF BIOCHEMICAL REMISSION AND RECURRENCE AFTER SURGICAL AND RADIATION TREATMENTS OF CUSHING DISEASE: A SYSTEMATIC REVIEW AND META-ANALYSIS. ( 26789343 )
2016
50
IDENTIFICATION OF POTENTIAL MARKERS FOR CUSHING DISEASE. ( 26789346 )
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 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104894190 GRCh37 Chromosome 11, 67258382: 67258382
2 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104894190 GRCh38 Chromosome 11, 67490911: 67490911
3 GNAI2 NM_002070.3(GNAI2): c.535C> G (p.Arg179Gly) single nucleotide variant Pathogenic rs137853226 GRCh37 Chromosome 3, 50293694: 50293694
4 GNAI2 NM_002070.3(GNAI2): c.535C> G (p.Arg179Gly) single nucleotide variant Pathogenic rs137853226 GRCh38 Chromosome 3, 50256262: 50256262
5 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
6 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
7 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
8 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
9 USP8 NM_005154.4(USP8): c.2152T> C (p.Ser718Pro) single nucleotide variant Pathogenic rs672601307 GRCh38 Chromosome 15, 50490443: 50490443
10 USP8 NM_005154.4(USP8): c.2152T> C (p.Ser718Pro) single nucleotide variant Pathogenic rs672601307 GRCh37 Chromosome 15, 50782640: 50782640
11 USP8 NM_005154.4(USP8): c.2153C> G (p.Ser718Cys) single nucleotide variant Pathogenic rs672601308 GRCh38 Chromosome 15, 50490444: 50490444
12 USP8 NM_005154.4(USP8): c.2153C> G (p.Ser718Cys) single nucleotide variant Pathogenic rs672601308 GRCh37 Chromosome 15, 50782641: 50782641
13 USP8 NM_005154.4(USP8): c.2155_2157delTCC (p.Ser719del) deletion Pathogenic rs672601306 GRCh38 Chromosome 15, 50490446: 50490448
14 USP8 NM_005154.4(USP8): c.2155_2157delTCC (p.Ser719del) deletion Pathogenic rs672601306 GRCh37 Chromosome 15, 50782643: 50782645
15 USP8 NM_005154.4(USP8): c.2159C> G (p.Pro720Arg) single nucleotide variant Pathogenic rs672601311 GRCh38 Chromosome 15, 50490450: 50490450
16 USP8 NM_005154.4(USP8): c.2159C> G (p.Pro720Arg) single nucleotide variant Pathogenic rs672601311 GRCh37 Chromosome 15, 50782647: 50782647

Cosmic variations for Pituitary Adenoma 4, Acth-Secreting:

9 (show all 32)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM4997287 USP8 pituitary,NS,adenoma,ACTH c.2152T>C p.S718P 15:50490443-50490443 23
2 COSM1749198 USP8 pituitary,NS,adenoma,ACTH c.2159C>G p.P720R 15:50490450-50490450 23
3 COSM416905 USP8 pituitary,NS,adenoma,ACTH c.2159C>A p.P720Q 15:50490450-50490450 23
4 COSM6995415 USP8 pituitary,NS,adenoma,ACTH c.2147C>A p.S716Y 15:50490438-50490438 23
5 COSM5967228 USP8 pituitary,NS,adenoma,ACTH c.2155T>C p.S719P 15:50490446-50490446 23
6 COSM3501986 USP8 pituitary,NS,adenoma,ACTH c.2147C>T p.S716F 15:50490438-50490438 23
7 COSM5967229 USP8 pituitary,NS,adenoma,ACTH c.2153C>T p.S718F 15:50490444-50490444 23
8 COSM5991542 STAG2 pituitary,NS,adenoma,ACTH c.1363G>C p.G455R 23:124057924-124057924 23
9 COSM28544 PIK3CA pituitary,NS,adenoma,ACTH c.3026G>A p.G1009E 3:179234183-179234183 23
10 COSM303944 PIK3CA pituitary,NS,adenoma,ACTH c.2984C>A p.A995D 3:179234141-179234141 23
11 COSM22589 MEN1 pituitary,NS,adenoma,ACTH c.1230C>A p.F410L 11:64805154-64805154 23
12 COSM482 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 11:534289-534289 23
13 COSM27887 GNAS pituitary,NS,adenoma,ACTH c.601C>T p.R201C 20:58909365-58909365 23
14 COSM27896 GNAS pituitary,NS,adenoma,ACTH c.680A>G p.Q227R 20:58909541-58909541 23
15 COSM5991541 BCOR pituitary,NS,adenoma,ACTH c.283G>A p.G95R 23:40075063-40075063 23
16 COSM45444 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.587G>T p.R196L 17:7674944-7674944 2
17 COSM43555 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.736A>G p.M246V 17:7674227-7674227 2
18 COSM225014 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1960G>A p.V654M 13:48456349-48456349 2
19 COSM4167506 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.617T>G p.L206R 19:14097604-14097604 2
20 COSM27899 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.601C>A p.R201S 20:58909365-58909365 2
21 COSM27895 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.602G>A p.R201H 20:58909366-58909366 2
22 COSM4962873 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.679C>G p.Q227E 20:58909540-58909540 2
23 COSM5663 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.133T>C p.S45P 3:41224645-41224645 2
24 COSM5689 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>G p.S45C 3:41224646-41224646 2
25 COSM5678 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.107A>C p.H36P 3:41224619-41224619 2
26 COSM5667 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>T p.S45F 3:41224646-41224646 2
27 COSM5686 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.100G>A p.G34R 3:41224612-41224612 2
28 COSM5679 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.110C>G p.S37C 3:41224622-41224622 2
29 COSM17661 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.130C>G p.P44A 3:41224642-41224642 2
30 COSM5988492 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.101G>C p.G34A 3:41224613-41224613 2
31 COSM5681 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.95A>G p.D32G 3:41224607-41224607 2
32 COSM476 BRAF adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1799T>A p.V600E 7:140753336-140753336 2

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 11.65 CDH23 GNAI2
2
Show member pathways
11.56 GNAI2 USP8
3
Show member pathways
11.25 CDH23 GNAI2
4
Show member pathways
10.91 CDH23 GNAI2
5 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

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

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 8.62 GNAI2 USP8

Sources for Pituitary Adenoma 4, Acth-Secreting

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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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