PITA4
MCID: PTT057
MIFTS: 49

Pituitary Adenoma 4, Acth-Secreting (PITA4)

Categories: Cancer diseases, Cardiovascular 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 72
Cushing Disease, Pituitary 57 6
Cushing Disease 58 72
Pita4 57 72
Pituitary Adenoma 4, Acth-Secreting, Somatic 57
Pituitary-Dependent Cushing's Disease 70
Pituitary Corticotroph Micro-Adenoma 58
Pituitary-Dependent Cushing Syndrome 58
Corticotroph Pituitary Adenoma 58
Pituitary Cushing Disease 72

Characteristics:

Orphanet epidemiological data:

58
cushing disease
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive vs. dominant men1


HPO:

31
pituitary adenoma 4, acth-secreting:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


Summaries for Pituitary Adenoma 4, Acth-Secreting

UniProtKB/Swiss-Prot : 72 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, pituitary, is related to familial isolated pituitary adenoma and acth-secreting pituitary adenoma. An important gene associated with Pituitary Adenoma 4, Acth-Secreting is USP8 (Ubiquitin Specific Peptidase 8), and among its related pathways/superpathways are Aldosterone synthesis and secretion and WNT Signaling. The drugs Metformin and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and skeletal muscle, 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) (Updated 20-May-2021)

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 top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 familial isolated pituitary adenoma 31.2 CDH23 AIP
2 acth-secreting pituitary adenoma 31.1 USP8 GNAI2 AIP
3 adenoma 30.7 USP8 AIP
4 pituitary adenoma 30.3 USP8 CDH23 AIP
5 carney complex variant 29.5 USP8 AIP
6 pituitary adenoma, prolactin-secreting 29.5 CDH23 AIP
7 functioning pituitary adenoma 29.3 USP8 AIP
8 pituitary-dependent cushing's disease 11.2
9 pituitary adenoma 1, multiple types 11.2
10 acth-independent macronodular adrenal hyperplasia 11.1
11 primary pigmented nodular adrenocortical disease 11.0
12 lipodystrophy, familial partial, type 2 11.0
13 familial partial lipodystrophy 11.0
14 acth-dependent cushing syndrome 10.4
15 growth hormone secreting pituitary adenoma 10.2
16 hypopituitarism 10.2
17 pituitary tumors 10.2
18 diabetes insipidus 10.2
19 mccune-albright syndrome 10.1
20 glucocorticoid deficiency 1 10.1
21 insulin-like growth factor i 10.1
22 meningioma, familial 10.1
23 fibrous dysplasia 10.1
24 familial glucocorticoid deficiency 10.1
25 intracranial meningioma 10.1
26 cysticercosis 10.1
27 monocular esotropia 10.1
28 hydrocephalus 10.1
29 conn's syndrome 10.1
30 amenorrhea 10.1
31 acromegaly 10.1
32 secretory meningioma 10.1
33 lymphoplasmacyte-rich meningioma 10.1
34 nelson syndrome 10.1
35 esotropia 10.1
36 diencephalic syndrome 10.1
37 pituitary apoplexy 10.0
38 dilated cardiomyopathy 10.0
39 multiple endocrine neoplasia 10.0
40 hyperglycemia 10.0
41 hypokalemia 10.0
42 cerebrospinal fluid leak 10.0
43 atrial standstill 1 9.9
44 osteoporosis 9.9
45 nephrolithiasis, calcium oxalate 9.9
46 dowling-degos disease 1 9.9
47 thrombophilia due to thrombin defect 9.9
48 pituitary hormone deficiency, combined, 2 9.9
49 graves disease 1 9.9
50 bone mineral density quantitative trait locus 8 9.9

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:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 Frequent (79-30%) HP:0000822
2 hypokalemia 58 31 Frequent (79-30%) HP:0002900
3 osteoporosis 58 31 Frequent (79-30%) HP:0000939
4 nephrolithiasis 58 31 Frequent (79-30%) HP:0000787
5 bruising susceptibility 58 31 Frequent (79-30%) HP:0000978
6 thin skin 58 31 Very frequent (99-80%) HP:0000963
7 pituitary adenoma 58 31 Very frequent (99-80%) HP:0002893
8 failure to thrive 58 Very frequent (99-80%)
9 sleep disturbance 58 Occasional (29-5%)
10 depressivity 58 Frequent (79-30%)
11 kyphosis 31 HP:0002808
12 diabetes mellitus 58 Frequent (79-30%)
13 cataract 58 Occasional (29-5%)
14 avascular necrosis 58 Occasional (29-5%)
15 visual impairment 58 Occasional (29-5%)
16 myopathy 58 Occasional (29-5%)
17 fatigue 58 Frequent (79-30%)
18 immunodeficiency 58 Frequent (79-30%)
19 skeletal muscle atrophy 31 HP:0003202
20 acne 58 Frequent (79-30%)
21 precocious menopause 58 Occasional (29-5%)
22 anxiety 58 Frequent (79-30%)
23 obesity 31 HP:0001513
24 venous thrombosis 58 Occasional (29-5%)
25 lipodystrophy 58 Very frequent (99-80%)
26 abdominal pain 58 Occasional (29-5%)
27 telangiectasia of the skin 58 Occasional (29-5%)
28 striae distensae 31 HP:0001065
29 recurrent fractures 58 Frequent (79-30%)
30 generalized hirsutism 58 Frequent (79-30%)
31 bipolar affective disorder 58 Occasional (29-5%)
32 headache 58 Occasional (29-5%)
33 generalized hyperpigmentation 58 Occasional (29-5%)
34 psychosis 58 Occasional (29-5%)
35 round face 58 Very frequent (99-80%)
36 infertility 58 Frequent (79-30%)
37 lethargy 58 Occasional (29-5%)
38 truncal obesity 58 Very frequent (99-80%)
39 cardiomyopathy 58 Occasional (29-5%)
40 biconcave vertebral bodies 31 HP:0004586
41 vertebral compression fractures 31 HP:0002953
42 hirsutism 31 HP:0001007
43 edema 31 HP:0000969
44 visual loss 58 Occasional (29-5%)
45 recurrent skin infections 58 Occasional (29-5%)
46 adrenal hyperplasia 58 Very frequent (99-80%)
47 poor wound healing 31 HP:0001058
48 metrorrhagia 58 Frequent (79-30%)
49 menorrhagia 58 Frequent (79-30%)
50 onychomycosis 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skel:
kyphosis
osteoporosis
vertebral compression fractures
codfish vertebrae

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

Neuro:
psychotic mentation
mood alterations

Endocrine:
oligomnenorrhea

Vascular:
hypertension

Skin:
purpura
hirsutism
edema
ecchymoses
thin
more
Metabolic:
impaired glucose tolerance

Muscle:
muscle atrophy

G U:
kidney stones

Clinical features from OMIM®:

219090 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.26 AIP CDH23 GNAI2 USP8
2 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 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Liraglutide Approved Phase 4 204656-20-2 44147092
3
Somatostatin Approved, Investigational Phase 4 51110-01-1, 38916-34-6 53481605
4
Lactitol Approved, Investigational Phase 4 585-86-4 157355
5 Sitagliptin Phosphate Phase 4
6 insulin Phase 4
7 Dipeptidyl-Peptidase IV Inhibitors Phase 4
8 Incretins Phase 4
9 Insulin, Globin Zinc Phase 4
10
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
11
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
12
Pasireotide Approved Phase 3 396091-73-9 9941444
13
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
14
Cabergoline Approved Phase 3 81409-90-7 54746
15 Orange Approved Phase 3
16 Hydrocortisone hemisuccinate Phase 3
17 Hydrocortisone 17-butyrate 21-propionate Phase 3
18 Neurotransmitter Agents Phase 3
19 Dopamine Agents Phase 3
20 Dopamine agonists Phase 3
21 Antiparkinson Agents Phase 3
22 Melanocyte-Stimulating Hormones Phase 3
23 beta-Endorphin Phase 3
24 Pharmaceutical Solutions Phase 3
25
Bexarotene Approved, Investigational Phase 1, Phase 2 153559-49-0 82146
26
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
27
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
28
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
30
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
31
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
32
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
33
Rosiglitazone Approved, Investigational Phase 2 122320-73-4 77999
34
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
35
Maleic acid Experimental Phase 2 110-16-7 444266
36 glucocorticoids Phase 2
37 Gastrointestinal Agents Phase 2
38 Antiemetics Phase 2
39 Antineoplastic Agents, Hormonal Phase 2
40 Anti-Inflammatory Agents Phase 2
41 Histone Deacetylase Inhibitors Phase 2
42 Methylprednisolone Acetate Phase 2
43 Neuroprotective Agents Phase 2
44 Protective Agents Phase 2
45 Roscovitine Phase 2
46 Anti-Infective Agents Phase 2
47 Protein Kinase Inhibitors Phase 2
48 Antiviral Agents Phase 2
49 Hypoglycemic Agents Phase 2
50
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 A Multi-center, Randomized, Open-label, Phase IV Study to Investigate the Management of Pasireotide-induced Hyperglycemia With Incretin Based Therapy or Insulin in Adult Patients With Cushing's Disease or Acromegaly Completed NCT02060383 Phase 4 Pasireotide s.c.;Sitagliptin;Liraglutide;Insulin;Pasireotide LAR;Metformin
2 Adipokine Profile in Patients With Cushing's Disease on Pasireotide Treatment: Correlation With Disease Activity, Insulin Sensitivity and Secretion Parameters Completed NCT03080181 Phase 4 Pasireotide 0.6 MG/ML
3 An Open Label, Multi-center Pasireotide Roll-over Protocol for Patients Who Have Completed a Previous Novartis-sponsored Pasireotide Study and Are Judged by the Investigator to Benefit From Continued Pasireotide Treatment Active, not recruiting NCT01794793 Phase 4 Pasireotide;Cabergoline;Pasireotide
4 Prevention of Metabolic Complications of Glucocorticoid Excess - a Randomised, Doubleblind,Placebo Controlled Study Completed NCT01319994 Phase 2, Phase 3 Metformin;Placebo
5 A Phase III, Multi-center, Randomized, Double-blind, 48 Week Study With an Initial 12 Week Placebo-controlled Period to Evaluate the Safety and Efficacy of Osilodrostat in Patients With Cushing's Disease Completed NCT02697734 Phase 3 osilodrostat;osilodrostat Placebo
6 An Open-label, Multi-center, Expanded Access Study of Pasireotide s.c. in Patients With Cushing's Disease (Seascape). Completed NCT01582061 Phase 3 Pasireotide sub-cutaneous
7 A Randomized, Double-blind, Multicenter, Phase III Study to Evaluate the Efficacy and Safety of Pasireotide LAR in Patients With Cushing's Disease Completed NCT01374906 Phase 3 pasireotide LAR;SOM230 LAR 30 mg;SOM230 LAR 10 mg
8 A Randomized, Double-blind Study to Assess the Safety and Efficacy of Different Dose Levels of Pasireotide (SOM230) Subcutaneous (sc) Over a 6 Month Treatment Period in Patients With de Novo, Persistent or Recurrent Cushing's Disease Completed NCT00434148 Phase 3 Pasireotide
9 Phase III, Multi-center, Double-blind, Randomized Withdrawal Study of LCI699 Following a 24 Week, Single-arm, Open-label Dose Titration and Treatment Period to Evaluate the Safety and Efficacy of LCI699 for the Treatment of Patients With Cushing's Disease Completed NCT02180217 Phase 3 osilodrostat;LCI699 matching placebo
10 Compassionate Use Protocol for the Administration of CORLUX® (Mifepristone) in the Treatment of the Signs and Symptoms of Endogenous Cushing's Syndrome Completed NCT01371565 Phase 3 Mifepristone
11 Study of Cabergoline in Treatment of Corticotroph Pituitary Tumor Completed NCT00889525 Phase 3 Cabergoline
12 An Open-label Study of the Safety, Pharmacokinetics and Pharmacodynamics of Mifepristone in Children With Refractory Cushing's Disease Withdrawn NCT01925092 Phase 3 mifepristone
13 Preoperative Bexarotene Treatment for Cushing's Disease Unknown status NCT00845351 Phase 1, Phase 2 Bexarotene
14 Targeted Therapy With Gefitinib in Patients With USP8-mutated Cushing's Disease Unknown status NCT02484755 Phase 2 Gefitinib
15 Extension Study to Assess the Safety and Efficacy of Pasireotide in Patients With Cushing's Disease Completed NCT00171951 Phase 2 Pasireotide
16 A Phase II, Open-label, Dose Titration, Multi-center Study to Assess the Safety/Tolerability and Efficacy of Osilodrostat in Patients With All Types of Endogenous Cushing's Syndrome Except Cushing's Disease Completed NCT02468193 Phase 2 Osilodrostat
17 A Proof of Concept, Open-label, Forced Titration, Multi-center Study to Assess the Safety/Tolerability and Efficacy of 10-weeks Treatment of LCI699 in Patients With Cushing's Disease Completed NCT01331239 Phase 2 LCI699
18 A Multicenter, Open Label Study to Assess the Safety and Efficacy of 600 µg SOM230, Administered Subcutaneously, b.i.d. in Patients With Cushing's Disease Completed NCT00088608 Phase 2 SOM230 s.c.
19 A Phase 2 Multicenter Study of Seliciclib (R-roscovitine) for Cushing Disease Recruiting NCT03774446 Phase 2 Seliciclib
20 A Phase II, Multicenter, Open-label, Non-comparative Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Tolerability of Osilodrostat in Children and Adolescent Patients With Cushing's Disease Recruiting NCT03708900 Phase 2 LCI699
21 The Effect of Vorinostat on ACTH Producing Pituitary Adenomas in Cushing s Disease Recruiting NCT04339751 Phase 2 Vorinostat
22 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition (TICSI) Recruiting NCT03111810 Phase 2 AZD4017 and prednisolone;Placebo Oral Tablet and prednisolone
23 Treatment of Pituitary Cushing Disease With a Selective CDK Inhibitor, R-roscovitine Terminated NCT02160730 Phase 2 R-roscovitine
24 A Phase II Study of SOM230 in Patients With Recurrent or Progressive Meningioma Who Have Previously Undergone or Are Not Candidates for Additional Surgery or Radiation Terminated NCT00813592 Phase 2 SOM230B
25 An Open Label, Multicenter Study Evaluating the Safety and Efficacy of Short Term (6 Weeks) Rosiglitazone Treatment in Patient's With Cushing's Disease Terminated NCT00612066 Phase 2 rosiglitazone maleate
26 A Phase II Trial to Assess the Efficacy and Safety of Pasireotide s.c. Alone or in Combination With Cabergoline in Patients With Cushing's Disease Terminated NCT01915303 Phase 2 Pasireotide with or without cabergoline
27 Etat de santé Des Patients Suivis Pour Une Maladie de Cushing Dans la région Grand-Ouest de 1990 à 2015 Unknown status NCT03297892
28 Novel Mediators of the Lipodystrophy and Metabolic Consequences of Cushing's Disease Unknown status NCT03817840
29 Cognitive Sequels of Cushing Syndrome Unknown status NCT02603653
30 The Factors Associated With the Recurrence in Patients With Cushing Disease Completed NCT02233335
31 National Swedish Study in Cushing´s Disease Incidence and Outcomes Completed NCT02350153
32 Prospective Evaluation of the Effect of Corticotropin-Releasing Hormone Stimulation on 18F-Fludeoxyglucose High-Resolution Positron-Emission Tomography in Cushing's Disease Completed NCT01459237 Early Phase 1 Acthrel
33 Evolution of the Metabolic, Cardiovascular, Bone Complications and of the Quality of Life in Cushing's Disease Completed NCT02568982
34 Cognition, Steroids, and Imaging in Cushings Disease Completed NCT00081341
35 Impact of [11C]-Methionine PET/MRI in the Detection of Pituitary Adenomas Secreting ACTH and Causing Cushing's Disease Completed NCT03346954
36 Usefulness of Hair Cortisol/Cortisone Concentrations for the Monitoring of Medical Treatment in Patients With Cushing's Disease Recruiting NCT04201444
37 Long-Term Follow UP of Survivors of Pediatric Cushing Disease Recruiting NCT03831958
38 Discriminant Capacity and Thresholds of Salivary Cortisol in Chemiluminescence in the Diagnosis of Hypercorticisms: Phase III Diagnostic Evaluation Study Recruiting NCT03974789
39 Non-interventional Study for the Generation of Long Term Safety and Efficacy Data of Pasireotide s.c. in Patients With Cushing's Disease (Post-Authorization Safety Study) Recruiting NCT02310269 SOM230
40 Prospective Observational Study of Diagnostic Yield in Cushing's Disease Using Deep Learning Based Denoising MRI Recruiting NCT04121988
41 Treatment Outcomes for Patients With Cushing's Syndrome: a Prospective Data Collection Study Recruiting NCT03364803
42 A Prospective, Multicenter, Randomized Controlled Study of Postoperative Thrombosis Prevention in Patients With Cushing's Disease Not yet recruiting NCT04486859 LMWH/Rivaroxaban
43 Corticotrophin-Releasing Hormone (CRH) Stimulation for 18F-FDG-PET Detection of Pituitary Adenoma in Cushing's Disease Not yet recruiting NCT04569591 Acthrel
44 A Study to Confirm the Presence of Recurrent or Persistent Cushing's Syndrome in Patients With Clinical Signs or Symptoms of Hypercortisolemia Who Have Been Treated for Cushing's Disease Terminated NCT00796783 Cushing's syndrome confirmation
45 Role of Adipokines in Long-term Cardiovascular Risk in Cured Cushing's Patients Terminated NCT00881283

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:

40
Pituitary, Bone, Skeletal Muscle, Kidney, Lymph Node, Heart, Lung

Publications for Pituitary Adenoma 4, Acth-Secreting

Articles related to Pituitary Adenoma 4, Acth-Secreting:

# Title Authors PMID Year
1
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease. 6 57
25942478 2015
2
Recurrent gain-of-function USP8 mutations in Cushing's disease. 57 6
25675982 2015
3
Mutations in the deubiquitinase gene USP8 cause Cushing's disease. 57
25485838 2015
4
Role of Brg1 and HDAC2 in GR trans-repression of the pituitary POMC gene and misexpression in Cushing disease. 57
17043312 2006
5
G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. 6
7737262 1995
6
Cushing's disease in two sisters. 57
2544092 1989
7
Familial Cushing Disease. 57
7246609 1981
8
Dysregulation of Cortisol Metabolism in Equine Pituitary Pars Intermedia Dysfunction. 61
30289445 2018
9
A patient with Cushing disease lateralizing a pituitary adenoma by inferior petrosal sinus sampling using desmopressin: a case report. 61
27104179 2016
10
Pituitary adenoma: a clinician's perspective. 61
18996799 2008

Variations for Pituitary Adenoma 4, Acth-Secreting

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAI2 NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) SNV Pathogenic 15905 rs137853226 GRCh37: 3:50293694-50293694
GRCh38: 3:50256262-50256262
2 AIP NM_003977.4(AIP):c.911G>A (p.Arg304Gln) SNV Pathogenic 4893 rs104894190 GRCh37: 11:67258382-67258382
GRCh38: 11:67490911-67490911
3 USP8 NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) SNV Pathogenic 161995 rs672601311 GRCh37: 15:50782647-50782647
GRCh38: 15:50490450-50490450
4 USP8 NM_005154.5(USP8):c.2138T>G (p.Leu713Arg) SNV Pathogenic 161994 rs672601309 GRCh37: 15:50782626-50782626
GRCh38: 15:50490429-50490429
5 USP8 NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) SNV Pathogenic 161993 rs672601308 GRCh37: 15:50782641-50782641
GRCh38: 15:50490444-50490444
6 USP8 NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) SNV Pathogenic 161992 rs672601307 GRCh37: 15:50782640-50782640
GRCh38: 15:50490443-50490443
7 USP8 NM_005154.5(USP8):c.2152_2154TCC[1] (p.Ser719del) Microsatellite Pathogenic 161991 rs672601306 GRCh37: 15:50782639-50782641
GRCh38: 15:50490442-50490444
8 AIP NM_003977.4(AIP):c.26G>A (p.Arg9Gln) SNV Uncertain significance 485052 rs139459091 GRCh37: 11:67250655-67250655
GRCh38: 11:67483184-67483184
9 AIP NM_003977.4(AIP):c.827C>T (p.Ala276Val) SNV Uncertain significance 485056 rs61741147 GRCh37: 11:67258298-67258298
GRCh38: 11:67490827-67490827

Cosmic variations for Pituitary Adenoma 4, Acth-Secreting:

9 (show top 50) (show all 185)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88531076 USP8 pituitary,NS,adenoma,ACTH c.2159C>A p.P720Q 15:50490450-50490450 30
2 COSM88530729 USP8 pituitary,NS,adenoma,ACTH c.2155T>C p.S719P 15:50490446-50490446 30
3 COSM98895036 USP8 pituitary,NS,adenoma,ACTH c.2147C>A p.S716Y 15:50490438-50490438 30
4 COSM88530892 USP8 pituitary,NS,adenoma,ACTH c.2152T>C p.S718P 15:50490443-50490443 30
5 COSM109780485 USP8 pituitary,NS,adenoma,ACTH c.1841C>A p.P614Q 15:50490450-50490450 30
6 COSM109780387 USP8 pituitary,NS,adenoma,ACTH c.1834T>C p.S612P 15:50490443-50490443 30
7 COSM98887708 USP8 pituitary,NS,adenoma,ACTH c.2152T>C p.S718P 15:50490443-50490443 30
8 COSM88531498 USP8 pituitary,NS,adenoma,ACTH c.2159C>G p.P720R 15:50490450-50490450 30
9 COSM98888036 USP8 pituitary,NS,adenoma,ACTH c.2159C>A p.P720Q 15:50490450-50490450 30
10 COSM98888470 USP8 pituitary,NS,adenoma,ACTH c.2159C>G p.P720R 15:50490450-50490450 30
11 COSM88536071 USP8 pituitary,NS,adenoma,ACTH c.2147C>T p.S716F 15:50490438-50490438 30
12 COSM109782146 USP8 pituitary,NS,adenoma,ACTH c.1835C>T p.S612F 15:50490444-50490444 30
13 COSM98887452 USP8 pituitary,NS,adenoma,ACTH c.2155T>C p.S719P 15:50490446-50490446 30
14 COSM109785555 USP8 pituitary,NS,adenoma,ACTH c.1829C>A p.S610Y 15:50490438-50490438 30
15 COSM109780828 USP8 pituitary,NS,adenoma,ACTH c.1841C>G p.P614R 15:50490450-50490450 30
16 COSM109784031 USP8 pituitary,NS,adenoma,ACTH c.1829C>T p.S610F 15:50490438-50490438 30
17 COSM109780255 USP8 pituitary,NS,adenoma,ACTH c.1837T>C p.S613P 15:50490446-50490446 30
18 COSM88533412 USP8 pituitary,NS,adenoma,ACTH c.2153C>T p.S718F 15:50490444-50490444 30
19 COSM88538415 USP8 pituitary,NS,adenoma,ACTH c.2147C>A p.S716Y 15:50490438-50490438 30
20 COSM98890346 USP8 pituitary,NS,adenoma,ACTH c.2153C>T p.S718F 15:50490444-50490444 30
21 COSM98892851 USP8 pituitary,NS,adenoma,ACTH c.2147C>T p.S716F 15:50490438-50490438 30
22 COSM94026628 STAG2 pituitary,NS,adenoma,ACTH c.1363G>C p.G455R 23:124057924-124057924 30
23 COSM94004581 STAG2 pituitary,NS,adenoma,ACTH c.1363G>C p.G455R 23:124057924-124057924 30
24 COSM94129750 STAG2 pituitary,NS,adenoma,ACTH c.1363G>C p.G455R 23:124057924-124057924 30
25 COSM94074224 STAG2 pituitary,NS,adenoma,ACTH c.1363G>C p.G455R 23:124057924-124057924 30
26 COSM86764249 STAG2 pituitary,NS,adenoma,ACTH c.1363G>C p.G455R 23:124057924-124057924 30
27 COSM86624499 RB1 pituitary,NS,adenoma,ACTH-FSH-GH-LH-PRL c.1861C>A p.R621S 13:48456250-48456250 30
28 COSM148978035 PIK3CA pituitary,NS,adenoma,ACTH c.*64C>A p.? 3:179234141-179234141 30
29 COSM87137804 PIK3CA pituitary,NS,adenoma,ACTH c.3026G>A p.G1009E 3:179234183-179234183 30
30 COSM148937795 PIK3CA pituitary,NS,adenoma,ACTH c.*106G>A p.? 3:179234183-179234183 30
31 COSM87180985 PIK3CA pituitary,NS,adenoma,ACTH c.2984C>A p.A995D 3:179234141-179234141 30
32 COSM100205339 MEN1 pituitary,NS,adenoma,ACTH c.1186-338C>A p.? 11:64805154-64805154 30
33 COSM100256750 MEN1 pituitary,NS,adenoma,ACTH c.1230C>A p.F410L 11:64805154-64805154 30
34 COSM100175300 MEN1 pituitary,NS,adenoma,ACTH c.1245C>A p.F415L 11:64805154-64805154 30
35 COSM92073850 MEN1 pituitary,NS,adenoma,ACTH c.1245C>A p.F415L 11:64805154-64805154 30
36 COSM100245522 MEN1 pituitary,NS,adenoma,ACTH c.1125C>A p.F375L 11:64805154-64805154 30
37 COSM99577182 MEN1 pituitary,NS,adenoma,ACTH c.1245C>A p.F415L 11:64805154-64805154 30
38 COSM90431218 MEN1 pituitary,NS,adenoma,ACTH c.1230C>A p.F410L 11:64805154-64805154 30
39 COSM92201949 MEN1 pituitary,NS,adenoma,ACTH c.1230C>A p.F410L 11:64805154-64805154 30
40 COSM99565357 MEN1 pituitary,NS,adenoma,ACTH c.1245C>A p.F415L 11:64805154-64805154 30
41 COSM105721542 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 11:534289-534289 30
42 COSM101967380 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 11:534289-534289 30
43 COSM101951743 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 11:534289-534289 30
44 COSM91331304 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 11:534289-534289 30
45 COSM112988978 HRAS pituitary,NS,adenoma,ACTH c.34G>C p.G12R 11:534289-534289 30
46 COSM87643479 GNAS pituitary,NS,adenoma,ACTH c.94-226A>G p.? 20:58909541-58909541 30
47 COSM87642925 GNAS pituitary,NS,adenoma,ACTH c.94-402C>T p.? 20:58909365-58909365 30
48 COSM85346567 GNAS pituitary,NS,adenoma,ACTH c.635A>G p.Q212R 20:58909541-58909541 30
49 COSM93760866 GNAS pituitary,NS,adenoma,ACTH c.2530C>T p.R844C 20:58909365-58909365 30
50 COSM93086636 GNAS pituitary,NS,adenoma,ACTH c.604C>T p.R202C 20:58909365-58909365 30

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
11.57 USP8 GNAI2 AIP
2 11.55 GNAI2 CDH23
3 10.94 GNAI2 CDH23

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 USP8 GNAI2

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

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 8.62 USP8 CDH23

Sources for Pituitary Adenoma 4, Acth-Secreting

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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