MCID: PTT049
MIFTS: 32

Pituitary Adenoma, Acth-Secreting malady

Genetic diseases (common) category

Summaries for Pituitary Adenoma, Acth-Secreting

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OMIM:45 Cushing 'disease' is a condition associated with increased blood cortisol resulting from adrenocorticotropic hormone... (219090) more...

MalaCards based summary: Pituitary Adenoma, Acth-Secreting, also known as acth-secreting pituitary adenoma, is related to pituitary adenoma and pituitary tumors, and has symptoms including nephrolithiasis, hypertension and glucose intolerance. An important gene associated with Pituitary Adenoma, Acth-Secreting is AIP (aryl hydrocarbon receptor interacting protein), and among its related pathways are Oxytocin signaling pathway and Myometrial Relaxation and Contraction Pathways. The compounds pertussis toxin and g-protein antagonist peptide have been mentioned in the context of this disorder. Affiliated tissues include pituitary and skin, and related mouse phenotypes are cardiovascular system and liver/biliary system.

Disease Ontology:9 A functioning pituitary adenoma that characterized by excess cortisol a primary cause of cushing's syndrome.

Aliases & Classifications for Pituitary Adenoma, Acth-Secreting

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Pituitary Adenoma, Acth-Secreting, Aliases & Descriptions:

Name: Pituitary Adenoma, Acth-Secreting 45 10
Acth-Secreting Pituitary Adenoma 9 11 60
Pituitary Acth-Secreting Adenoma 10
 
Acth-Producing Pituitary Adenoma 9
Corticotroph Adenoma 9
Corticotropinoma 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 219090
Disease Ontology9 DOID:7004
SNOMED-CT55 254958004, 21109002
MeSH33 D049913
NCIt38 C7462

Related Diseases for Pituitary Adenoma, Acth-Secreting

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1pituitary adenoma30.5AIP, GNAS
2pituitary tumors30.0AIP, GNAS
3adenoma11.0
4leukemia10.3
5cushing's syndrome10.3
6teratoma10.3
7addison's disease10.3
8lung cancer10.2
9craniopharyngioma10.2
10x-linked adrenal hypoplasia congenita10.2
11malignant acth producing neoplasm of pituitary gland10.1
12gigantism10.0AIP, GNAS
13carney complex variant10.0AIP, GNAS
14acromegaly10.0AIP, GNAS
15prolactinoma9.9AIP, GNAS

Graphical network of diseases related to Pituitary Adenoma, Acth-Secreting:



Diseases related to pituitary adenoma, acth-secreting

Symptoms for Pituitary Adenoma, Acth-Secreting

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Symptoms by clinical synopsis from OMIM:

219090

Clinical features from OMIM:

219090

HPO human phenotypes related to Pituitary Adenoma, Acth-Secreting:

(show all 23)
id Description Frequency HPO Source Accession
1 nephrolithiasis HP:0000787
2 hypertension HP:0000822
3 glucose intolerance HP:0000833
4 oligomenorrhea HP:0000876
5 osteoporosis HP:0000939
6 thin skin HP:0000963
7 edema HP:0000969
8 bruising susceptibility HP:0000978
9 purpura HP:0000979
10 hirsutism HP:0001007
11 facial erythema HP:0001041
12 poor wound healing HP:0001058
13 striae distensae HP:0001065
14 psychotic mentation HP:0001345
15 obesity HP:0001513
16 alkalosis HP:0001948
17 kyphosis HP:0002808
18 hypokalemia HP:0002900
19 vertebral compression fractures HP:0002953
20 increased circulating acth level HP:0003154
21 amyotrophy HP:0003202
22 biconcave vertebral bodies HP:0004586
23 abnormal fear/anxiety-related behavior HP:0100852

Drugs & Therapeutics for Pituitary Adenoma, Acth-Secreting

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Drug clinical trials:

Search ClinicalTrials for Pituitary Adenoma, Acth-Secreting

Search NIH Clinical Center for Pituitary Adenoma, Acth-Secreting

Genetic Tests for Pituitary Adenoma, Acth-Secreting

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Anatomical Context for Pituitary Adenoma, Acth-Secreting

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

31
Pituitary, Skin

Animal Models for Pituitary Adenoma, Acth-Secreting or affiliated genes

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5GNAI2, GNAS, AIP
2MP:00053708.4GNAI2, GNAS, AIP
3MP:00053798.2GNAI2, GNAS, AIP

Publications for Pituitary Adenoma, Acth-Secreting

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Variations for Pituitary Adenoma, Acth-Secreting

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Clinvar genetic disease variations for Pituitary Adenoma, Acth-Secreting:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GNAI2NM_002070.3(GNAI2): c.535C> G (p.Arg179Gly)single nucleotide variantPathogenicrs137853226GRCh37Chr 3, 50293694: 50293694
2GNASNM_001077488.2(GNAS): c.683A> G (p.Gln228Arg)single nucleotide variantPathogenicrs121913494GRCh37Chr 20, 57484596: 57484596
3GNASNM_001077488.2(GNAS): c.684G> C (p.Gln228His)single nucleotide variantPathogenicrs137854533GRCh37Chr 20, 57484597: 57484597
4AIPNM_003977.2(AIP): c.911G> A (p.Arg304Gln)single nucleotide variantPathogenicrs104894190GRCh37Chr 11, 67258382: 67258382

Cosmic variations for Pituitary Adenoma, Acth-Secreting:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1303944PIK3CApituitary,NS,adenoma,ACTH4
228544PIK3CApituitary,NS,adenoma,ACTH4
327887GNASpituitary,NS,adenoma,ACTH4
422589MEN1pituitary,NS,adenoma,ACTH4
5482HRASpituitary,NS,adenoma,ACTH4

Expression for genes affiliated with Pituitary Adenoma, Acth-Secreting

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

Pathways for genes affiliated with Pituitary Adenoma, Acth-Secreting

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

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1GNAI2, GNAS
2
Show member pathways
Calcium Regulation in the Cardiac Cell36
9.1GNAI2, GNAS
3
Show member pathways
9.1GNAS, GNAI2
4
Show member pathways
Apoptosis and survival BAD phosphorylation58
Development Alpha 2 adrenergic receptor activation of ERK58
Chemotaxis CXCR4 signaling pathway58
9.1GNAI2, GNAS
59.1GNAI2, GNAS
6
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
9.1GNAS, GNAI2
7
Show member pathways
9.1GNAS, GNAI2
8
Show member pathways
9.1GNAI2, GNAS
9
Show member pathways
9.1GNAI2, GNAS
10
Show member pathways
9.1GNAI2, GNAS
11
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
9.1GNAI2, GNAS
12
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
9.1GNAI2, GNAS
13
Show member pathways
9.1GNAS, GNAI2
149.1GNAS, GNAI2
159.1GNAI2, GNAS
16
Show member pathways
9.1GNAS, GNAI2
179.1GNAI2, GNAS
189.1GNAS, GNAI2
199.1GNAI2, GNAS
209.1GNAI2, GNAS
219.1GNAI2, GNAS
22
Show member pathways
Signal transduction cAMP signaling58
9.1GNAS, GNAI2
23
Show member pathways
9.1GNAS, GNAI2
24
Show member pathways
Development Beta adrenergic receptors regulation of ERK58
G protein signaling G Protein alpha s signaling cascades58
G protein signaling G Protein beta gamma signaling cascades58
9.1GNAI2, GNAS
25
Show member pathways
9.1GNAI2, GNAS
26
Show member pathways
9.1GNAS, GNAI2
279.1GNAI2, GNAS

Compounds for genes affiliated with Pituitary Adenoma, Acth-Secreting

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

idCompoundScoreTop Affiliating Genes
1pertussis toxin599.3GNAI2, GNAS
2g-protein antagonist peptide599.2GNAS, GNAI2
3gallein599.2GNAS, GNAI2
4suramin hexasodium salt599.1GNAS, GNAI2
5Guanosine diphosphate249.1GNAI2, GNAS
68-bromo-cgmp, sodium salt599.0GNAS, GNAI2
7Guanosine monophosphate248.8GNAI2, GNAS

GO Terms for genes affiliated with Pituitary Adenoma, Acth-Secreting

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

idNameGO IDScoreTop Affiliating Genes
1heterotrimeric G-protein complexGO:00058349.0GNAI2, GNAS
2extrinsic component of cytoplasmic side of plasma membraneGO:00312348.8GNAI2, GNAS
3cytosolGO:00058298.5GNAI2, GNAS, AIP

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

idNameGO IDScoreTop Affiliating Genes
1GTP bindingGO:00055259.1GNAI2, GNAS
2G-protein beta/gamma-subunit complex bindingGO:00316839.0GNAI2, GNAS
3GTPase activityGO:00039248.8GNAI2, GNAS
4signal transducer activityGO:00048718.5GNAI2, GNAS, AIP

Products for genes affiliated with Pituitary Adenoma, Acth-Secreting

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Sources for Pituitary Adenoma, Acth-Secreting

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet