MCID: PTT057
MIFTS: 45

Pituitary Adenoma 4, Acth-Secreting

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

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.

MalaCards based summary : Pituitary Adenoma 4, Acth-Secreting, also known as cushing disease, is related to acth-secreting pituitary 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 Cell cycle Cell cycle (generic schema) and S-1P Stimulated Signaling. The drugs Somatostatin and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, adrenal gland and skin, and related phenotypes are hypertension and hypokalemia

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)

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:

# Related Disease Score Top Affiliating Genes
1 acth-secreting pituitary adenoma 11.8
2 pituitary-dependent cushing's disease 11.1
3 acth-independent macronodular adrenal hyperplasia 11.0
4 primary pigmented nodular adrenocortical disease 11.0

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

GU:
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 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 Frequent (79-30%) HP:0000822
2 hypokalemia 59 32 Frequent (79-30%) HP:0002900
3 osteoporosis 59 32 Frequent (79-30%) HP:0000939
4 thin skin 59 32 Very frequent (99-80%) HP:0000963
5 nephrolithiasis 59 32 Frequent (79-30%) HP:0000787
6 pituitary adenoma 59 32 Very frequent (99-80%) HP:0002893
7 bruising susceptibility 59 32 Frequent (79-30%) HP:0000978
8 obesity 32 HP:0001513
9 depressivity 59 Frequent (79-30%)
10 diabetes mellitus 59 Frequent (79-30%)
11 failure to thrive 59 Very frequent (99-80%)
12 sleep disturbance 59 Occasional (29-5%)
13 kyphosis 32 HP:0002808
14 cataract 59 Occasional (29-5%)
15 aseptic necrosis 59 Occasional (29-5%)
16 visual impairment 59 Occasional (29-5%)
17 myopathy 59 Occasional (29-5%)
18 fatigue 59 Frequent (79-30%)
19 immunodeficiency 59 Frequent (79-30%)
20 skeletal muscle atrophy 32 HP:0003202
21 abdominal pain 59 Occasional (29-5%)
22 edema 32 HP:0000969
23 generalized hirsutism 59 Frequent (79-30%)
24 acne 59 Frequent (79-30%)
25 precocious menopause 59 Occasional (29-5%)
26 anxiety 59 Frequent (79-30%)
27 glucose intolerance 32 HP:0000833
28 cardiomyopathy 59 Occasional (29-5%)
29 venous thrombosis 59 Occasional (29-5%)
30 psychosis 59 Occasional (29-5%)
31 telangiectasia of the skin 59 Occasional (29-5%)
32 visual loss 59 Occasional (29-5%)
33 striae distensae 32 HP:0001065
34 round face 59 Very frequent (99-80%)
35 purpura 32 HP:0000979
36 bipolar affective disorder 59 Occasional (29-5%)
37 recurrent fractures 59 Frequent (79-30%)
38 lethargy 59 Occasional (29-5%)
39 headache 59 Occasional (29-5%)
40 infertility 59 Frequent (79-30%)
41 generalized hyperpigmentation 59 Occasional (29-5%)
42 truncal obesity 59 Very frequent (99-80%)
43 recurrent skin infections 59 Occasional (29-5%)
44 menorrhagia 59 Frequent (79-30%)
45 metrorrhagia 59 Frequent (79-30%)
46 increased circulating acth level 32 HP:0003154
47 biconcave vertebral bodies 32 HP:0004586
48 lipodystrophy 59 Very frequent (99-80%)
49 adrenal hyperplasia 59 Very frequent (99-80%)
50 onychomycosis 59 Occasional (29-5%)

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 112)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 4,Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
2
Liraglutide Approved Phase 4 204656-20-2 44147092
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Zinc Approved, Investigational Phase 4 7440-66-6 23994
5
Lactitol Investigational Phase 4 585-86-4 3871
6 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
7 Hormones 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 insulin Phase 4
10 Insulin, Globin Zinc Phase 4
11 Dipeptidyl-Peptidase IV Inhibitors Phase 4
12 HIV Protease Inhibitors Phase 4
13 Hypoglycemic Agents Phase 4,Phase 2
14 Incretins Phase 4
15
protease inhibitors Phase 4
16 Sitagliptin Phosphate Phase 4
17
Epinephrine Approved, Vet_approved Phase 3,Phase 2,Not Applicable 51-43-4 5816
18
Racepinephrine Approved Phase 3,Phase 2,Not Applicable 329-65-7 838
19
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2,Not Applicable 50-23-7 5754
20
Cabergoline Approved Phase 3,Phase 2 81409-90-7 54746
21
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
22
Mifepristone Approved, Investigational Phase 3,Phase 2,Not Applicable 84371-65-3 55245
23
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
24 Orange Approved, Nutraceutical Phase 3
25 Epinephryl borate Phase 3,Phase 2,Not Applicable
26 Cortisol succinate Phase 3,Phase 2,Not Applicable
27 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2,Not Applicable
28 Hydrocortisone acetate Phase 3,Phase 2,Not Applicable
29 Adrenocorticotropic Hormone Phase 3,Phase 2,Early Phase 1
30 beta-endorphin Phase 3,Phase 2
31 Melanocyte-Stimulating Hormones Phase 3,Phase 2
32 Pharmaceutical Solutions Phase 3
33 Antiparkinson Agents Phase 3,Phase 2
34 Dopamine Agents Phase 3,Phase 2
35 Dopamine agonists Phase 3,Phase 2
36 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
37 Contraceptive Agents Phase 3,Phase 2,Not Applicable
38 Contraceptives, Oral Phase 3,Phase 2,Not Applicable
39 Contraceptives, Postcoital Phase 3,Phase 2,Not Applicable
40 Luteolytic Agents Phase 3,Phase 2,Not Applicable
41 Antineoplastic Agents, Hormonal Phase 3,Phase 2
42 Edotreotide Phase 3
43 Gastrointestinal Agents Phase 3,Phase 2
44 Radiopharmaceuticals Phase 3
45
Bexarotene Approved, Investigational Phase 1, Phase 2 153559-49-0 82146
46
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
47
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
48
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
49
Rosiglitazone Approved, Investigational Phase 2 122320-73-4 77999
50
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 Adipokine Profile in Patients With Cushing's Disease on Pasireotide Treatment Completed NCT03080181 Phase 4 Pasireotide 0.6 MG/ML
2 Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing's Disease or Acromegaly Recruiting NCT02060383 Phase 4 Pasireotide s.c.;Sitagliptin;Liraglutide;Insulin;Pasireotide LAR;Metformin
3 Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in a Novartis-sponsored Study. Recruiting NCT01794793 Phase 4 Pasireotide
4 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 Safety and Efficacy of LCI699 for the Treatment of Patients With Cushing's Disease Active, not recruiting NCT02180217 Phase 3 LCI699
14 Mifepristone in Children With Refractory Cushing's Disease Withdrawn NCT01925092 Phase 3 mifepristone
15 Preoperative Bexarotene Treatment for Cushing's Disease Unknown status NCT00845351 Phase 1, Phase 2 Bexarotene
16 Targeted Therapy With Gefitinib in Patients With USP8-mutated Cushing's Disease Unknown status NCT02484755 Phase 2 Gefitinib
17 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
18 Extension Study to Assess the Safety and Efficacy of Pasireotide in Patients With Cushing's Disease Completed NCT00171951 Phase 2 Pasireotide
19 A Study to Assess SOM230 in Patients With Pituitary Cushing's Disease Completed NCT00088608 Phase 2 SOM230 s.c.
20 Treatment of Cushing's Disease With R-roscovitine Recruiting NCT02160730 Phase 2 R-roscovitine
21 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition Recruiting NCT03111810 Phase 2 AZD4017 and prednisolone;Placebo Oral Tablet and prednisolone
22 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting NCT02468193 Phase 2 Osilodrostat
23 Targeted Therapy With Lapatinib in Patients With Recurrent Pituitary Tumors Resistant to Standard Therapy Recruiting NCT00939523 Phase 2 Lapatinib
24 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
25 Safety and Efficacy of LCI699 in Cushing's Disease Patients. Active, not recruiting NCT01331239 Phase 2 LCI699
26 Study to Evaluate CORT125134 in Patients With Cushing's Syndrome Active, not recruiting NCT02804750 Phase 2 CORT125134
27 Rosiglitazone in Treating Patients With Newly Diagnosed ACTH-Secreting Pituitary Tumor (Cushing Disease) Terminated NCT00612066 Phase 2 rosiglitazone maleate
28 Rosiglitazone in Treating Patients With Pituitary Tumors Terminated NCT00616642 Phase 2 rosiglitazone maleate
29 Pasireotide Therapy in Patients With Nelson's Syndrome Terminated NCT01617733 Phase 2 Pasireotide
30 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
31 Phase II Study of SOM230 in Patients With Recurrent or Progressive Meningioma Terminated NCT00813592 Phase 2 SOM230B
32 SOM230 Ectopic ACTH-producing Tumors Withdrawn NCT02780882 Phase 2 Pasireotide
33 Assessment of Persistent Cognitive Impairment After Cure of Cushing's Disease Unknown status NCT02603653 Not Applicable
34 Study of Depression, Peptides, and Steroids in Cushing's Syndrome Unknown status NCT00004334
35 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Unknown status NCT02810496 Not Applicable
36 Anesthesia Management of Retroperitoneal Adrenalectomies Unknown status NCT00894335
37 The Factors Associated With the Recurrence in Patients With Cushing Disease Completed NCT02233335
38 Cognition, Steroids, and Imaging in Cushings Disease Completed NCT00081341
39 Effects of Hormone Stimulation on Brain Scans for Cushing s Disease Completed NCT01459237 Early Phase 1 Acthrel
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 SOM230
45 Adrenal Venous Sampling in Patients With Overt or Subclinical Cushings Syndrome, and Bilateral Adrenal Tumors Recruiting NCT02543697 Not Applicable
46 Collecting Information About Treatment Results for Patients With Cushing's Syndrome Recruiting NCT03364803
47 Mifepristone for Breast Cancer Patients With Higher Levels of Progesterone Receptor Isoform A Than Isoform B. Recruiting NCT02651844 Not Applicable Mifepristone
48 An Investigation of Pituitary Tumors and Related Hypothalmic Disorders Recruiting NCT00001595
49 Seoul National University Pituitary Disease Cohort Study Recruiting NCT03474601
50 Quality of Life, Fatigue and Cognitive, Affective and Emotional Dysfunction in Patients With Cushing's Syndrome Recruiting NCT03211624

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, Adrenal Gland, Skin, Brain, Kidney, Skeletal Muscle, Cortex

Publications for Pituitary Adenoma 4, Acth-Secreting

Articles related to Pituitary Adenoma 4, Acth-Secreting:

(show all 44)
# Title Authors Year
1
<i>PRKAR1A</i> mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. ( 28522647 )
2017
2
Case report of a bilateral adrenal myelolipoma associated with Cushing disease. ( 29384929 )
2017
3
Somatic USP8 gene mutations are a common cause of pediatric Cushing disease. ( 28505279 )
2017
4
A rare case of spontaneous Cushing disease remission induced by pituitary apoplexy. ( 28251551 )
2017
5
Outcome of Microscopic Transsphenoidal Surgery in Cushing Disease: A Case Series of 96 Patients. ( 26704208 )
2016
6
The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease. ( 26695862 )
2016
7
A patient with Cushing disease lateralizing a pituitary adenoma by inferior petrosal sinus sampling using desmopressin: a case report. ( 27104179 )
2016
8
Idiopathic intracranial hypertension following surgical treatment of Cushing disease: case report and review of management strategies. ( 27633717 )
2016
9
FGFR4 polymorphic variants modulate phenotypic features of Cushing disease. ( 24625004 )
2014
10
Symptomatic cycling Cushing disease managed by simultaneous bilateral laparoscopic adrenalectomy in a 11-year-old boy. ( 24696635 )
2014
11
Cushing disease revealed by bilateral atypical central serous chorioretinopathy: case report. ( 24013974 )
2013
12
Evidence for orphan nuclear receptor TR4 in the etiology of Cushing disease. ( 23653479 )
2013
13
Known VDR polymorphisms are not associated with bone mineral density measures in pediatric Cushing disease. ( 22570981 )
2012
14
Successful long-term treatment of Cushing disease with mifepristone (RU486). ( 22441000 )
2012
15
Neurosurgical treatment of Cushing disease. ( 23040749 )
2012
16
Hormonal Secretion and Quality Of Life in Nelson Syndrome and Cushing Disease After Long Acting Repeatable Octreotide: A Short Series and Update. ( 22820717 )
2012
17
Use of the histological pseudocapsule in surgery for Cushing disease: rapid postoperative cortisol decline predicting complete tumor resection. ( 22283193 )
2012
18
The growth hormone receptor (GHR) polymorphism in growth-retarded children with Cushing disease: lack of association with growth and measures of the somatotropic axis. ( 20013551 )
2010
19
Dermatophytosis caused by Tricophyton rubrum as an opportunistic infection in patients with Cushing disease. ( 21308315 )
2010
20
Cushing disease in a toddler: not all obese children are just fat. ( 19521241 )
2009
21
Combined acromegaly and subclinical Cushing disease related to high-molecular-weight adrenocorticotropic hormone. ( 18991502 )
2009
22
Medical management of Cushing disease. ( 17961023 )
2007
23
Treatment options for Cushing disease after unsuccessful transsphenoidal surgery. ( 17961031 )
2007
24
Role of Brg1 and HDAC2 in GR trans-repression of the pituitary POMC gene and misexpression in Cushing disease. ( 17043312 )
2006
25
New aspects in the diagnosis and treatment of Cushing disease. ( 16809932 )
2006
26
Craniopharyngioma and Cushing disease: case report. ( 15881759 )
2005
27
[Successful treatment of Cushing disease with the sphenoid sinus of conchal type: usefulness of inferior petrosal sinus sampling and STEALTH navigation system: a case report]. ( 15678871 )
2005
28
Ectopic intracavernous sinus adrenocorticotropic hormone-secreting microadenoma: could this be a common cause of failed transsphenoidal surgery in Cushing disease? Case report. ( 12816280 )
2003
29
A multihormonal pituitary adenoma with growth hormone and adrenocorticotropic hormone production, causing acromegaly and Cushing disease. ( 12495300 )
2002
30
[Cushing disease in children and in adolescents. Therapeutic results]. ( 9239266 )
1997
31
Late complications in remission from Cushing disease. Recurrence of tumor with reinfarction or transformation into a silent adenoma. ( 9361580 )
1997
32
Bilateral simultaneous cavernous sinus sampling using corticotropin-releasing hormone in the evaluation of Cushing disease. ( 8896620 )
1996
33
[Anterior pituitary responsiveness in central Cushing disease and in Cushing syndrome caused by adrenal cortex tumors, as well as in simple obesity]. ( 7862432 )
1995
34
[Hypoxemic nosocomial pneumonia developing in excavation in a patient with Cushing disease]. ( 8746027 )
1995
35
[Genetic approaches to Itsenko-Cushing disease]. ( 8059414 )
1993
36
[The treatment of the climacteric syndrome in women suffering from Itsenko-Cushing disease and primary obesity]. ( 1364624 )
1992
37
[The effect of proton therapy on the protein-amino acid metabolism in Itsenko-Cushing disease]. ( 1652673 )
1991
38
[The gonadotropin, prolactin and sex steroid content of the blood from the inferior cavernous sinuses and the adrenal and ovarian veins of women with Itsenko-Cushing disease]. ( 2042357 )
1991
39
[The effect of thyroliberin on the blood level of gonadotropins and sex steroids in women suffering from Itsenko-Cushing disease]. ( 2109914 )
1990
40
[Changes in the secretion of the hormones of the hypothalamo-hypophyseo-adrenal system in Itsenko-Cushing disease under the influence of insulin-induced hypoglycemia and thyroliberin]. ( 2164280 )
1990
41
[Use of the &amp;quot;extended&amp;quot; minor dexamethasone test in Itsenko-Cushing disease]. ( 2853354 )
1988
42
[Plasma level of testosterone-estradiol-binding globulin in women with Itsenko-Cushing disease]. ( 3809123 )
1986
43
Treatment of acromegaly, Cushing disease and Nelson syndrome. ( 7415170 )
1980
44
Therapy for acromegaly, Cushing disease and Nelson syndrome. ( 7415173 )
1980

Variations for Pituitary Adenoma 4, Acth-Secreting

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

6
(show all 14)
# 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 GNAI2 NM_002070.3(GNAI2): c.535C> G (p.Arg179Gly) single nucleotide variant Pathogenic rs137853226 GRCh38 Chromosome 3, 50256262: 50256262
3 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
4 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
5 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
6 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
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.2152T> C (p.Ser718Pro) single nucleotide variant Pathogenic rs672601307 GRCh37 Chromosome 15, 50782640: 50782640
9 USP8 NM_005154.4(USP8): c.2153C> G (p.Ser718Cys) single nucleotide variant Pathogenic rs672601308 GRCh38 Chromosome 15, 50490444: 50490444
10 USP8 NM_005154.4(USP8): c.2153C> G (p.Ser718Cys) single nucleotide variant Pathogenic rs672601308 GRCh37 Chromosome 15, 50782641: 50782641
11 USP8 NM_005154.4(USP8): c.2155_2157delTCC (p.Ser719del) deletion Pathogenic rs672601306 GRCh38 Chromosome 15, 50490446: 50490448
12 USP8 NM_005154.4(USP8): c.2155_2157delTCC (p.Ser719del) deletion Pathogenic rs672601306 GRCh37 Chromosome 15, 50782643: 50782645
13 USP8 NM_005154.4(USP8): c.2159C> G (p.Pro720Arg) single nucleotide variant Pathogenic rs672601311 GRCh38 Chromosome 15, 50490450: 50490450
14 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 30)
# 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 COSM416905 USP8 pituitary,NS,adenoma,ACTH c.2159C>A p.P720Q 15:50490450-50490450 23
3 COSM5967228 USP8 pituitary,NS,adenoma,ACTH c.2155T>C p.S719P 15:50490446-50490446 23
4 COSM1749198 USP8 pituitary,NS,adenoma,ACTH c.2159C>G p.P720R 15:50490450-50490450 23
5 COSM5967229 USP8 pituitary,NS,adenoma,ACTH c.2153C>T p.S718F 15:50490444-50490444 23
6 COSM5991542 STAG2 pituitary,NS,adenoma,ACTH c.1363G>C p.G455R 23:124057924-124057924 23
7 COSM28544 PIK3CA pituitary,NS,adenoma,ACTH c.3026G>A p.G1009E 3:179234183-179234183 23
8 COSM303944 PIK3CA pituitary,NS,adenoma,ACTH c.2984C>A p.A995D 3:179234141-179234141 23
9 COSM22589 MEN1 pituitary,NS,adenoma,ACTH c.1230C>A p.F410L 11:64805154-64805154 23
10 COSM482 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 11:534289-534289 23
11 COSM27887 GNAS pituitary,NS,adenoma,ACTH c.601C>T p.R201C 20:58909365-58909365 23
12 COSM27896 GNAS pituitary,NS,adenoma,ACTH c.680A>G p.Q227R 20:58909541-58909541 23
13 COSM5991541 BCOR pituitary,NS,adenoma,ACTH c.283G>A p.G95R 23:40075063-40075063 23
14 COSM45444 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.587G>T p.R196L 17:7674944-7674944 2
15 COSM43555 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.736A>G p.M246V 17:7674227-7674227 2
16 COSM225014 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1960G>A p.V654M 13:48456349-48456349 2
17 COSM4167506 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.617T>G p.L206R 19:14097604-14097604 2
18 COSM27899 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.601C>A p.R201S 20:58909365-58909365 2
19 COSM27895 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.602G>A p.R201H 20:58909366-58909366 2
20 COSM4962873 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.679C>G p.Q227E 20:58909540-58909540 2
21 COSM5663 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.133T>C p.S45P 3:41224645-41224645 2
22 COSM5689 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>G p.S45C 3:41224646-41224646 2
23 COSM5678 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.107A>C p.H36P 3:41224619-41224619 2
24 COSM5667 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>T p.S45F 3:41224646-41224646 2
25 COSM5686 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.100G>A p.G34R 3:41224612-41224612 2
26 COSM5679 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.110C>G p.S37C 3:41224622-41224622 2
27 COSM17661 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.130C>G p.P44A 3:41224642-41224642 2
28 COSM5988492 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.101G>C p.G34A 3:41224613-41224613 2
29 COSM5681 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.95A>G p.D32G 3:41224607-41224607 2
30 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
Show member pathways
10.89 CDH23 GNAI2
2 10.6 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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