MCID: ACT010
MIFTS: 60

Acth-Secreting Pituitary Adenoma malady

Endocrine, Cancer categories

Summaries for Acth-Secreting Pituitary Adenoma

Sources:
8Disease Ontology, 47OMIM, 33MalaCards
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Disease Ontology:8 A functioning pituitary adenoma that characterized by excess cortisol a primary cause of cushing's syndrome.

MalaCards: Acth-Secreting Pituitary Adenoma, also known as pituitary adenoma, acth-secreting, is related to adenoma and nelson syndrome, and has symptoms including round face, thin skin and cortico-adrenal hyperplasia/hypersecretion. An important gene associated with Acth-Secreting Pituitary Adenoma is AIP (aryl hydrocarbon receptor interacting protein), and among its related pathways are Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1) and Development A3 receptor signaling. The drugs aminoglutethimide and mitotane and the compounds 24(s), 25-epoxycholesterol and acetyl-podocarpic dimer have been mentioned in the context of this disorder. Affiliated tissues include liver and pituitary, and related mouse phenotypes are nervous system and skeleton.

Description from OMIM:47 219090

Aliases & Classifications for Acth-Secreting Pituitary Adenoma

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Endocrine


Characteristics (Orphanet epidemiological data):

49
pituitary dependent cushing syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood


Aliases & Descriptions:

acth-secreting pituitary adenoma 8 10 61
pituitary adenoma, acth-secreting 9 47
pituitary acth-secreting adenoma 9 47
pituitary-dependent cushing's disease 61
pituitary dependent cushing syndrome 49
pituitary corticotroph micro-adenoma 49
acth-producing pituitary adenoma 8
corticotroph pituitary adenoma 49
corticotroph adenoma 8
corticotropinoma 8
cushing syndrome 61
cushing disease 49


External Ids:

Disease Ontology8 DOID:7004
MeSH35 D049913
NCIt40 C7462
OMIM47 219090
MESH via Orphanet36 D047748
SNOMED-CT57 254958004, 21109002
ICD10 via Orphanet26 E24.0
SNOMED-CT via Orphanet58 190502001
UMLS via Orphanet62 C0221406
ICD1025 E24.0

Related Diseases for Acth-Secreting Pituitary Adenoma

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Acth-Secreting Pituitary Adenoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma31.4AVPR1B, CDKN2A, AIP, LIFR, LIF, TBX19
2nelson syndrome30.4NR3C1, PPARG
3teratoma30.4LIF
4cushing's syndrome30.4AVPR1B, GIP, NR3C1, GHRL, CRHBP
5addison's disease30.4NR1H2, CRHBP
6pituitary tumors30.2PPARG, AIP, LIF, NR1H2, GHRL
7hypoglycemia29.9GIP, GHRL
8pheochromocytoma29.9LIF
9n syndrome10.5
10adrenal adenoma10.3
11mccune albright syndrome10.3
12adrenocortical carcinoma10.3
13primary pigmented nodular adrenocortical disease10.3
14familial glucocorticoid deficiency10.3
15acromegaly10.3
16mccune–albright syndrome10.2
17cushing syndrome due to ectopic acth secretion10.2
18cushing syndrome, familial10.2
19pituitary hypoplasia10.1
20somatostatin analog10.1
21silent pituitary adenoma10.1
22choristoma10.1
23pituitary-dependent cushing's disease10.1
24congenital adrenal hyperplasia10.1
25nephrocalcinosis10.1
26adrenal carcinoma10.1
27micro syndrome10.1
28carcinoid syndrome10.1
29mass syndrome10.1
30multiple endocrine neoplasia10.1
31malignant acth producing neoplasm of pituitary gland10.0
32peritonitis10.0LIF
33endometriosis10.0LIF
34psoriasis10.0NR1H2
35morbid obesity10.0GHRL
36liposarcoma10.0PPARG
37hepatitis b10.0AIP
38sarcoma10.0GAPDH
39meningioma10.0GAPDH
40myeloid leukemia10.0LIF, NR1H2
41fatty liver disease10.0PPARG
42coronary heart disease10.0NR1H3, NR3C1
43cervical adenocarcinoma10.0CDKN2A
44hypopituitarism10.0GHRL, CRHBP
45anaplastic astrocytoma10.0CDKN2A
46plasmacytoma10.0LIF, LIFR
47eating disorder10.0GHRL
48skin cancer10.0CDKN2A, NR1H2
49hepatoblastoma10.0LIF, NR1H2
50hypertension10.0NR3C1, PPARG

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



Diseases related to acth-secreting pituitary adenoma

Clinical Features for Acth-Secreting Pituitary Adenoma

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

219090

Clinical synopsis from OMIM:

219090

Symptoms:

49 (show all 40)
  • round face
  • thin skin
  • cortico-adrenal hyperplasia/hypersecretion
  • pituitary/hypophyseal neoplasm/tumor/carcinoma/cancer
  • truncal obesity
  • abnormal fat distribution/lipodystrophy
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • cushingoid morphotype
  • acne/acnea
  • hirsutism/hypertrichosis/increased body hair
  • chronic arterial hypertension
  • bruisability
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • sterility/hypofertility
  • diabetes mellitus
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hypokalemia
  • asthenia/fatigue/weakness
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • mild visual loss/impaired visual acuity
  • chronic skin infection/ulcerations/ulcers/cancrum
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • telangiectasiae of the skin
  • onyxis/paronyxis/ungual inflammation
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • acute abdominal pain/colic
  • cardiomyopathy/hypertrophic/dilated
  • venous thrombosis/phlebitis/thrombophlebitis
  • precocious menopause/secondary amenorrhea
  • facial pain/cephalalgia/migraine
  • sleep and vigilance disorders
  • obnubilation/coma/lethargia/desorientation
  • psychosis/schizophrenia/maniac disorder
  • myopathy
  • osteonecrosis/bone infarction

Drugs & Therapeutics for Acth-Secreting Pituitary Adenoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Acth-Secreting Pituitary Adenoma

Drug clinical trials:

Search ClinicalTrials for Acth-Secreting Pituitary Adenoma

Search NIH Clinical Center for Acth-Secreting Pituitary Adenoma

Search CenterWatch for Acth-Secreting Pituitary Adenoma

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Acth-Secreting Pituitary Adenoma

Anatomical Context for Acth-Secreting Pituitary Adenoma

Sources:
33MalaCards
See all sources

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

33
Liver, Pituitary

Animal Models for Acth-Secreting Pituitary Adenoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Acth-Secreting Pituitary Adenoma

Sources:
51PubMed
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Articles related to Acth-Secreting Pituitary Adenoma:

(show all 26)
idTitleAuthorsYear
1
Lycopene and beta-carotene induce growth inhibition and proapoptotic effects on ACTH-secreting pituitary adenoma cells. (23667519)
2013
2
miR-26a plays an important role in cell cycle regulation in ACTH-secreting pituitary adenomas by modulating protein kinase CI'. (23525216)
2013
3
Nasally located ectopic ACTH-secreting pituitary adenoma (EAPA) causing Nelson's syndrome: diagnostic challenges. (24065616)
2013
4
Downregulation of Insulin-like growth factor binding protein 6 is associated with ACTH-secreting pituitary adenoma growth. (24379119)
2013
5
Pituitary ACTH-secreting adenoma in Addison's disease: a case report. (24216004)
2013
6
Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features. (22570980)
2012
7
Visual vignette. Ectopic ACTH-secreting pituitary adenoma. (21803709)
2011
8
ICA Occlusion by an ACTH-secreting pituitary adenoma post-TSS and irradiation. (22399870)
2011
9
Liver X receptor-I+/I^ expression ratio is increased in ACTH-secreting pituitary adenomas. (21356276)
2011
10
An ACTH-secreting pituitary adenoma within the sphenoid sinus. (20424367)
2010
11
Upregulation of CDKN2A and suppression of cyclin D1 gene expressions in ACTH-secreting pituitary adenomas. (20616110)
2010
12
Magmas, a gene newly identified as overexpressed in human and mouse ACTH-secreting pituitary adenomas, protects pituitary cells from apoptotic stimuli. (20719856)
2010
13
Differential expression of somatostatin and dopamine receptor subtype genes in adrenocorticotropin (ACTH)-secreting pituitary tumors and silent corticotroph adenomas. (19318729)
2009
14
Ghrelin stimulates adrenocorticotrophic hormone (ACTH) secretion by human ACTH-secreting pituitary adenomas in vitro. (17280594)
2007
15
A patient with recurrent hypercortisolism after removal of an ACTH-secreting pituitary adenoma due to an adrenal macronodule. (17185905)
2006
16
ACTH-secreting pituitary adenoma within an ovarian teratoma. (16137552)
2005
17
Mutation analysis of leukemia inhibitory factor-receptor (LIF-R) in ACTH-secreting pituitary adenomas. (15372367)
2004
18
Functional PPAR-gamma receptor is a novel therapeutic target for ACTH-secreting pituitary adenomas. (12379847)
2002
19
Decreased expression of corticotropin-releasing factor-binding protein mRNA in ACTH-secreting pituitary adenomas. (10768834)
2000
20
Significant gene expression of insulin-like growth factor II and proliferating cell nuclear antigen in a rapidly growing recurrent pituitary acth-secreting adenoma. (11416238)
2000
21
Induction of apoptosis in murine ACTH-secreting pituitary adenoma cells by bromocriptine. (7508871)
1994
22
Mass spectrometric analysis of opioid and tachykinin neuropeptides in non-secreting and ACTH-secreting human pituitary adenomas. (8381675)
1993
23
Vasopressin enhances a calcium current in human ACTH-secreting pituitary adenoma cells. (2844618)
1988
24
Failure of valproic acid to inhibit the growth of an ACTH-secreting pituitary adenoma. (6326445)
1984
25
Increase of beta-endorphin in cerebrospinal fluid after removal of ACTH-secreting pituitary adenoma. (6272176)
1981
26
ACTH secreting pituitary adenoma in an infant of 18 months. Immunohistochemical, electron-microscopic, and in-vitro studies. (6278457)
1981

Genetic Variations for Acth-Secreting Pituitary Adenoma

Expression for genes affiliated with Acth-Secreting Pituitary Adenoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Acth-Secreting Pituitary Adenoma

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

Pathways for genes affiliated with Acth-Secreting Pituitary Adenoma

Sources:
54Reactome, 12EMD Millipore, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG
See all sources

Pathways related to Acth-Secreting Pituitary Adenoma according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0GHRL, GIP
2
Development A3 receptor signaling
Hide members
9.5CCND1, GNAI2, PRKCD
3
Hide members
9.5CCND1, GNAI2, PRKCD
4
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
9.3LIFR, PRKCD, PPARG
59.3LIFR, LIF, NR1H3, PPARG
6
Hide members
9.3GNAI2, PRKCD, LIF, LIFR
79.3CDKN2A, PRKCD, CCND1
8
Hide members
9.2GNAI2, GHRL, NR3C1, GIP, AVPR1B
9
Hide members
9.2PPARG, NR1H2, NR3C1, NR1H3
10
Hide members
9.0LIFR, LIF, NR3C1, PRKCD, GNAI2
11
Hide members
9.0LIFR, LIF, PRKCD, GNAI2, CCND1
12
Hide members
8.8CDKN2A, LIFR, PRKCD, GNAI2, CCND1
13
Hide members
8.6CCND1, GNAI2, PRKCD, LIF, LIFR, CDKN2A
14
Hide members
8.5CDKN2A, LIFR, LIF, PRKCD, PPARG, GNAI2

Compounds for genes affiliated with Acth-Secreting Pituitary Adenoma

Sources:
29IUPHAR, 45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Acth-Secreting Pituitary Adenoma according to GeneCards/GeneDecks:

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
124(s), 25-epoxycholesterol2910.3NR1H3, NR1H2
2acetyl-podocarpic dimer2910.3NR1H3, NR1H2
3t09013172910.3NR1H2, NR1H3
4gw39652910.3NR1H3, NR1H2
524(s)-hydroxycholesterol2910.3NR1H3, NR1H2
6estradiol45 11 2412.2CRHBP
7gw 3965 hydrochloride6010.2NR1H2, NR1H3
8t 09013176010.2NR1H3, NR1H2
9fexaramine60 29 1112.2NR1H2, NR1H3
10lg 1007544510.1PPARG, NR1H2
11estrogen4510.0LIFR, CRHBP
12l-7834832910.0NR1H3, NR1H2, PPARG
13N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDE1110.0NR1H3, NR1H2
14cyproteroneacetate459.9NR1H2, NR3C1, GHRL
15thiazolidinedione459.7PPARG, NR1H2, CCND1
16progestins459.7LIF, CCND1, NR1H2, NR3C1
17depsipeptide459.7LIF, CCND1, CDKN2A
18corticosterone45 60 2411.6NR1H2, GHRL, NR3C1, LIF, AVPR1B
19rosiglitazone45 50 29 11 2413.4GHRL, CCND1, PPARG, NR1H2
205 aminosalicylic acid459.3GAPDH, PPARG, NR1H2
21carbachol45 29 1111.2LIF, NR3C1, PRKCD, GHRL, CCND1
22wortmannin459.2GIP, LIF, PRKCD, GHRL, CCND1
23vitamin d459.2NR1H3, GHRL, NR1H2, NR3C1, PPARG
24prostaglandin459.2CRHBP, PPARG, GHRL
25hydrocortisone45 2 60 1112.1NR1H2, GHRL, NR3C1, LIF, CRHBP
26steroid459.1CCND1, NR1H2, NR1H3, LIF, LIFR, CDKN2A
27cytarabine45 50 1111.1LIF, CDKN2A, GAPDH, GHRL
28serine459.1NR1H2, PRKCD, CCND1, GHRL, LIF
29genistein45 29 60 2 11 2414.0PPARG, CDKN2A, NR1H2, CCND1, LIF
30progestin458.9GAPDH, NR1H2, NR3C1, LIF, CCND1
31dopamine45 29 11 2411.9GAPDH, NR1H2, LIF, GHRL, NR3C1
32arginine458.8GIP, NR1H2, AVPR1B, GHRL, CDKN2A, LIF
33arsenite45 249.8CDKN2A, GAPDH, NR1H2, CCND1
34deoxyribonucleic acid458.8CDKN2A, GAPDH, LIF
35mg 13245 609.7CCND1, GAPDH, NR1H2, CDKN2A, NR3C1
36dexamethasone45 50 29 1111.7CRHBP, NR1H2, NR3C1, LIF, CDKN2A, GHRL
37acth458.7AVPR1B, LIFR, LIF, CRHBP, TBX19, NR3C1
38retinoid458.7GAPDH, NR3C1, CCND1, NR1H2, PPARG
39fatty acid458.6PPARG, CDKN2A, NR1H3, NR1H2, PRKCD, LIF
40tacrolimus45 50 1110.6PPARG, CCND1, NR3C1, GAPDH
41progesterone45 60 29 11 2412.4CDKN2A, NR1H2, CCND1, CRHBP, NR3C1, LIF
42cholesterol45 29 11 2411.4PPARG, GHRL, PRKCD, LIFR, CDKN2A, NR1H3
43glucose458.3GIP, GHRL, PPARG, GAPDH, NR1H3, LIF
44rapamycin458.3PPARG, CCND1, NR1H3, NR3C1, PRKCD, GAPDH
45lipid458.1PRKCD, CDKN2A, GIP, NR1H3, NR1H2, PPARG
46cisplatin45 50 60 1111.1PRKCD, CDKN2A, LIF, NR3C1, GHRL, GAPDH
47retinoic acid45 248.8CDKN2A, NR1H3, NR3C1, NR1H2, GAPDH, PPARG
48testosterone45 60 11 2410.8NR1H2, GAPDH, PPARG, CCND1, LIF, GHRL
49vegf457.8CDKN2A, LIF, NR3C1, PPARG, NR1H2, GHRL
50alanine457.8PPARG, PRKCD, NR1H2, LIFR, GIP, GAPDH

GO Terms for genes affiliated with Acth-Secreting Pituitary Adenoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Acth-Secreting Pituitary Adenoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:03477410.0GIP, GHRL
2nucleoplasmGO:0056547.9CDKN2A, CCND1, PPARG, PRKCD, NR1H2, NR3C1
3nucleusGO:0056345.6CCND1, GNAI2, PPARG, GAPDH, CRHBP, PRKCD

Biological processes related to Acth-Secreting Pituitary Adenoma according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of pinocytosisGO:04855010.3NR1H3, NR1H2
2leukemia inhibitory factor signaling pathwayGO:04886110.3LIFR, LIF
3positive regulation of cholesterol transportGO:03237610.2NR1H2, NR1H3
4negative regulation of lipid transportGO:03236910.2NR1H2, NR1H3
5positive regulation of fatty acid biosynthetic processGO:04572310.1NR1H3, NR1H2
6positive regulation of lipoprotein lipase activityGO:05100610.1NR1H2, NR1H3
7positive regulation of triglyceride biosynthetic processGO:01086710.0NR1H3, NR1H2
8negative regulation of interferon-gamma-mediated signaling pathwayGO:0603369.9PPARG, NR1H2, NR1H3
9negative regulation of cholesterol storageGO:0108879.9PPARG, NR1H2, NR1H3
10negative regulation of macrophage derived foam cell differentiationGO:0107459.9NR1H3, PPARG, NR1H2
11positive regulation of cholesterol effluxGO:0108759.9NR1H3, NR1H2
12negative regulation of inflammatory responseGO:0507289.7GHRL, NR1H3, PRKCD
13positive regulation of cellular protein metabolic processGO:0322709.7NR1H3, NR1H2
14response to estrogen stimulusGO:0436279.6GHRL, PPARG, CCND1
15transcription initiation from RNA polymerase II promoterGO:0063679.5NR1H2, NR3C1, NR1H3, PPARG
16response to drugGO:0424939.1GIP, CCND1, PRKCD, PPARG
17protein stabilizationGO:0508219.0PRKCD, CDKN2A, GAPDH
18positive regulation of transcription from RNA polymerase II promoterGO:0459448.9LIF, NR1H3, PPARG, NR1H2, TBX19, CDKN2A
19gene expressionGO:0104678.8PRKCD, PPARG, NR1H2, NR3C1, NR1H3
20signal transductionGO:0071658.4GNAI2, PPARG, CRHBP, NR3C1, AIP, GIP

Molecular functions related to Acth-Secreting Pituitary Adenoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoid X receptor bindingGO:0469659.8NR1H2, PPARG
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.4NR1H3, NR1H2, PPARG
3steroid hormone receptor activityGO:0037079.2NR1H3, NR1H2, PPARG

Products for genes affiliated with Acth-Secreting Pituitary Adenoma

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Sources for Acth-Secreting Pituitary Adenoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet