PPNAD
MCID: PRM051
MIFTS: 49

Primary Pigmented Nodular Adrenocortical Disease (PPNAD) malady

Genetic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Primary Pigmented Nodular Adrenocortical Disease

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33MalaCards
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MalaCards: Primary Pigmented Nodular Adrenocortical Disease, also known as PPNAD, is related to cushing's syndrome and carney complex. An important gene associated with Primary Pigmented Nodular Adrenocortical Disease is PDE8B (phosphodiesterase 8B), and among its related pathways are Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics and Nuclear Receptor transcription pathway. The compounds betamethasone and aminoglutethimide have been mentioned in the context of this disorder. Affiliated tissues include cortex, adrenal cortex and adrenal gland, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Aliases & Classifications for Primary Pigmented Nodular Adrenocortical Disease

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43NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Aliases & Descriptions:

primary pigmented nodular adrenocortical disease 43
ppnad 43


Related Diseases for Primary Pigmented Nodular Adrenocortical Disease

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17GeneCards, 18GeneDecks
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Diseases in the Pigmented Nodular Adrenocortical Disease, Primary, 1 family:

primary pigmented nodular adrenocortical disease Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented Nodular Adrenocortical Disease, Primary, 3 Pigmented Nodular Adrenocortical Disease, Primary, 4

Diseases related to Primary Pigmented Nodular Adrenocortical Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1cushing's syndrome31.4NR3C1, POMC
2carney complex31.3GNAS, PDE8B, POMC, PDE11A, PRKAR1A
3adenoma30.8CNC2, SMARCA4, CTNNB1, SYP, IGFBP2, GNAS
4acth-independent macronodular adrenal hyperplasia30.7GNAS
5pituitary adenoma30.3ESR2, PRKAR1A, SYP, CNC2, NR3C1, NCAM1
6adrenal adenoma30.0POMC, PRKAR1A, CNC2, CYP19A1, GNAS
7cushing syndrome, acth-independent adrenal, somatic10.3
8gangliocytoma10.1SYP
9adrenal carcinoma10.1POMC
10pituitary carcinoma10.1POMC
11rhabdoid tumor10.1SYP
12zollinger-ellison syndrome10.1CHGA
13aromatase excess syndrome10.1CYP19A1
14central neurocytoma10.1CHGA, SYP
15antley-bixler syndrome10.1CYP19A1
16pancreatic islet cell tumors10.1CHGA, SYP
17pineocytoma10.1CHGA, SYP
18mccune albright syndrome10.1PRKAR1A, GNAS
19acrodysostosis10.1GNAS, PRKAR1A
20merkel cell carcinoma10.1CHGA, SYP
21wermer syndrome10.1PRKAR1A, CHGA
22dysembryoplastic neuroepithelial tumor10.1SYP
23acinar cell carcinoma10.1CHGA, CTNNB1
24thyroid medullary carcinoma10.1POMC, PRKAR1A, CHGA
25cerebral meningioma10.1PGR
26parathyroid adenoma10.1CHGA, GNAS, PRKAR1A
27neuroepithelioma10.1SYP, NCAM1
28acth-secreting pituitary adenoma10.1NR3C1, POMC
29glucocorticoid-remediable aldosteronism10.1NR3C1, POMC
30adrenocortical carcinoma10.1PRKAR1A, IGFBP2, CTNNB1
31nelson syndrome10.1POMC, NR3C1
32hypoglycemia10.1IGFBP2, CHGA, POMC
33germ cell cancer10.1ESR2, NCAM1
34thyroid cancer10.1CHGA, GNAS, PRKAR1A
35craniopharyngioma10.1CTNNB1, POMC
36neuroendocrine carcinoma10.1CHGA, NCAM1, SYP
37aorta atresia10.1CYP19A1, IGFBP2
38paraganglioma10.1CHGA, SYP, NCAM1
39oligodendroglioma10.1IGFBP2, SYP, NCAM1
40precocious puberty10.1GNAS, POMC, CYP19A1
41leydig cell tumor10.1GNAS, CYP19A1, POMC
42neuroblastoma10.1NCAM1, SYP
43estrogen excess10.1PGR, CYP19A1
44thyroid adenoma10.1GNAS, CNC2, PRKAR1A
45short stature10.1IGFBP2, GNAS, CYP19A1
46nephrotic syndrome10.0POMC, IGFBP2, NR3C1
47non-small cell lung carcinoma10.0NCAM1, SYP, CHGA
48ganglioneuroma10.0CHGA, SYP, NCAM1, POMC
49pancreatic cancer10.0CTNNB1, CHGA, SYP, ESR2
50chronic fatigue syndrome10.0POMC, NR3C1

Graphical network of the top 20 diseases related to Primary Pigmented Nodular Adrenocortical Disease:



Diseases related to primary pigmented nodular adrenocortical disease

Symptoms for Primary Pigmented Nodular Adrenocortical Disease

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Drugs & Therapeutics for Primary Pigmented Nodular Adrenocortical Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Primary Pigmented Nodular Adrenocortical Disease

Search NIH Clinical Center for Primary Pigmented Nodular Adrenocortical Disease

Genetic Tests for Primary Pigmented Nodular Adrenocortical Disease

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Anatomical Context for Primary Pigmented Nodular Adrenocortical Disease

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33MalaCards
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MalaCards organs/tissues related to Primary Pigmented Nodular Adrenocortical Disease:

33
Cortex, Adrenal cortex, Adrenal gland, Pituitary

Animal Models for Primary Pigmented Nodular Adrenocortical Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

37 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4CTNNB1, PRKAR1A, POMC, CYP19A1
2MP:00053718.5CTNNB1, ESR1, ESR2, PGR, GNAS, SMARCA4
3MP:00053758.5POMC, ESR1, PRKACA, PRKAR1A, NR3C1, CYP19A1
4MP:00020068.5ESR1, PRKACA, PRKAR1A, CTNNB1, ESR2, POMC
5MP:00053888.5CTNNB1, ESR1, ESR2, GNAS, SMARCA4, PRKAR1A
6MP:00053818.4ESR2, SMARCA4, CTNNB1, NR3C1, PRKAR1A, ESR1
7MP:00030128.2GNAS, ESR2, ESR1, SYP, POMC, CTNNB1
8MP:00053698.0ESR1, ESR2, PGR, PRKAR1A, NR3C1, CTNNB1
9MP:00107717.9CYP19A1, CTNNB1, NR3C1, ESR1, GNAS, SMARCA4
10MP:00053897.8PRKAR1A, ESR1, PRKACA, CHGA, ESR2, PGR
11MP:00053707.7ESR2, CTNNB1, NR3C1, ESR1, POMC, GNAS
12MP:00053807.7PRKACA, ESR1, PRKACB, PGR, SMARCA4, CTNNB1
13MP:00028737.7NR3C1, IGFBP2, CYP19A1, PGR, CTNNB1, ESR2
14MP:00053797.6PRKACA, ESR2, PGR, PRKAR1A, NR3C1, CTNNB1
15MP:00053677.5ESR1, IGFBP2, SMARCA4, GNAS, POMC, ESR2
16MP:00053787.4ESR2, NCAM1, NR3C1, PRKAR1A, CTNNB1, CHGA
17MP:00053847.3SMARCA4, GNAS, CTNNB1, NCAM1, NR3C1, PRKAR1A
18MP:00053907.2CYP19A1, CTNNB1, PGR, ESR2, GNAS, PRKAR1A
19MP:00053767.2PRKAR1A, CTNNB1, PDE8B, NR3C1, PRKACA, CHGA
20MP:00053977.1PGR, IGFBP2, CYP19A1, SMARCA4, GNAS, POMC
21MP:00053877.1ESR1, ESR2, PGR, POMC, GNAS, SMARCA4
22MP:00053856.7GNAS, SMARCA4, CYP19A1, CTNNB1, POMC, PGR
23MP:00053866.7ESR2, PGR, POMC, GNAS, CYP19A1, ESR1
24MP:00036316.5NCAM1, CTNNB1, SMARCA4, NR3C1, ESR2, ESR1
25MP:00107686.5POMC, CTNNB1, PGR, NCAM1, NR3C1, PRKAR1A

Publications for Primary Pigmented Nodular Adrenocortical Disease

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52PubMed
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Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. (23065993)
2013
2
An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other. (22785148)
2012
3
Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease--case presentation. (21932601)
2011
4
Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected. (20924687)
2011
5
A case of subclinical Cushing syndrome due to primary pigmented nodular adrenocortical disease associated with adrenocortical adenoma. (21442380)
2011
6
Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl. (21648292)
2011
7
Primary pigmented nodular adrenocortical disease. (21717412)
2011
8
Primary pigmented nodular adrenocortical disease. (22121318)
2011
9
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review. (20099223)
2010
10
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. (20190548)
2010
11
CT findings of primary pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome. (20489078)
2010
12
Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report. (20670433)
2010
13
Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. (19915019)
2010
14
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. (19833579)
2010
15
MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling. (19351815)
2009
16
The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits. (19383776)
2009
17
Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. (18491255)
2008
18
Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease. (18508999)
2008
19
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). (18419788)
2008
20
Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A. (17280861)
2007
21
Primary pigmented nodular adrenocortical disease and Cushing's syndrome. (18209861)
2007
22
Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X). (17396442)
2007
23
Primary pigmented nodular adrenocortical disease with synaptophysin immunoreactivity in two thai children. (17624220)
2007
24
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. (16464939)
2006
25
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. (17322955)
2006
26
Primary pigmented nodular adrenocortical disease: report of 5 cases. (16701022)
2006
27
PRKAR1A mutations in primary pigmented nodular adrenocortical disease. (17036196)
2006
28
Bilateral adrenal Cushing's syndrome: macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease. (15850852)
2005
29
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? (15240590)
2004
30
Clinical and molecular genetics of primary pigmented nodular adrenocortical disease. (15761532)
2004
31
Primary pigmented nodular adrenocortical disease: paradoxical responses of cortisol secretion to dexamethasone occur in vitro and are associated with increased expression of the glucocorticoid receptor. (12915689)
2003
32
Carney complex, a familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: a case report. (12670039)
2002
33
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. (12213893)
2002
34
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. (10523219)
1999
35
Synaptophysin immunoreactivity in primary pigmented nodular adrenocortical disease: neuroendocrine properties of tumors associated with Carney complex. (10084605)
1999
36
Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy. (9100606)
1997
37
Relapse of Cushing's syndrome following the treatment of primary pigmented nodular adrenocortical disease by unilateral adrenalectomy. (8811225)
1996
38
Cushing's syndrome due to primary pigmented nodular adrenocortical disease--a case report reviews of the literature. (7626560)
1995
39
Use of a two-site immunoradiometric assay to resolve a factitious elevation of ACTH in primary pigmented nodular adrenocortical disease. (8186827)
1994
40
Bilateral primary pigmented nodular adrenocortical disease--a case of report describing a rare cause of Cushing's syndrome. (7786440)
1994
41
Carney's complex with primary pigmented nodular adrenocortical disease and spotty pigmentations. (8495049)
1993
42
Cushing's syndrome due to primary pigmented nodular adrenocortical disease with cardiac myxomas and mucocutaneous lentigines. (1600314)
1992
43
Primary pigmented nodular adrenocortical disease (PPNAD): immunohistochemical and in situ hybridization analysis of steroidogenic enzymes in eight cases. (1542635)
1992
44
Carney's complex of primary pigmented nodular adrenocortical disease and pigmentous and myxomatous lesions. (2711295)
1989
45
Primary pigmented nodular adrenocortical disease. A light and electron microscopic study of eight cases. (2679153)
1989
46
Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50 years later. (2586567)
1989
47
Cushing syndrome due to primary pigmented nodular adrenocortical disease: findings at CT and MR imaging. (2748822)
1989
48
Cushing's syndrome resulting from primary pigmented nodular adrenocortical disease. (3752018)
1986
49
Primary pigmented nodular adrenocortical disease: diagnosis and management. (3787476)
1986
50
Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome. (6329005)
1984

Variations for Primary Pigmented Nodular Adrenocortical Disease

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Expression for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

Search GEO for disease gene expression data for Primary Pigmented Nodular Adrenocortical Disease.

Pathways for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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50PathCards, 51PharmGKB, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 30KEGG
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Pathways related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 108)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4CYP19A1, ESR2, ESR1
2
Show member pathways
Nuclear Receptors38
9.0PGR, ESR2, ESR1, NR3C1
38.9PRKACG, PRKACA, PRKACB
48.9PRKACB, PRKACG, PRKACA
58.9PRKACG, PRKACB, PRKACA
68.7PRKAR1A, PRKACG, PRKACB, PRKACA
78.7PRKAR1A, PRKACG, PRKACB, PRKACA
88.7PRKAR1A, PRKACB, PRKACA, PRKACG
98.7PRKACB, PRKACA, PRKACG, PRKAR1A
108.7PRKACA, PRKACG, PRKAR1A, PRKACB
118.7PRKACA, PRKACB, PRKACG, PRKAR1A
128.7GNAS, PRKACG, PRKACB, PRKACA
138.7PRKACA, PRKACB, PRKACG, GNAS
14
Show member pathways
8.7PRKACB, GNAS, PRKACA, PRKACG
158.7PRKACA, PRKACG, PRKACB, GNAS
168.6PRKACA, PRKACB, PRKACG, NCAM1
178.5PRKACB, PRKACG, PRKAR1A, PRKACA, POMC
18
Show member pathways
8.5PRKACA, PRKACB, PRKACG, PRKAR1A, SMARCA4
19
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.5PRKAR1A, PRKACG, PRKACB, GNAS, PRKACA
20
Show member pathways
Development Beta adrenergic receptors regulation of ERK60
G protein signaling G Protein alpha s signaling cascades60
G protein signaling G Protein beta gamma signaling cascades60
8.5PRKACB, PRKACA, GNAS, PRKACG, PRKAR1A
21
Show member pathways
8.5PRKACA, PRKAR1A, PRKACG, PRKACB, GNAS
22
Show member pathways
8.5GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A
23
Show member pathways
8.5PRKACB, PRKACG, GNAS, PRKACA, PRKAR1A
24
Show member pathways
8.5PRKACB, PRKACA, GNAS, PRKAR1A, PRKACG
258.5GNAS, PRKACA, PRKACG, PRKAR1A, PRKACB
26
Show member pathways
Apoptosis and survival BAD phosphorylation60
Development Alpha 2 adrenergic receptor activation of ERK60
Chemotaxis CXCR4 signaling pathway60
8.5PRKACA, GNAS, PRKACB, PRKACG, PRKAR1A
278.5PRKACG, PRKACB, PRKACA, GNAS, PRKAR1A
288.5PRKACG, GNAS, PRKACA, PRKACB, PRKAR1A
29
Show member pathways
8.4PRKACG, PRKACA, POMC, GNAS, PRKACB
30
Show member pathways
Development A1 receptor signaling60
G protein signaling G Protein alpha q signaling cascades60
8.4PRKAR1A, PRKACB, PRKACG, PRKACA, CTNNB1
318.4CTNNB1, PRKAR1A, PRKACG, PRKACA, PRKACB
32
Show member pathways
Calcium Regulation in the Cardiac Cell38
8.4IGFBP2, PRKACA, PRKACB, PRKAR1A, GNAS
33
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
8.4GNAS, PRKACB, PRKACG, CTNNB1, PRKACA
348.3PRKACA, CYP19A1, GNAS, PRKACB, PRKACG
358.3NR3C1, CTNNB1, PRKACA, ESR2, PRKACB, PRKAR1A
36
Show member pathways
Signal transduction cAMP signaling60
8.3PRKACG, PRKACB, PRKACA, GNAS, PDE8B, PRKAR1A
37
Show member pathways
8.2PRKACB, PRKAR1A, PRKACA, GNAS, PRKACG, POMC
388.2PRKACG, PRKACB, CYP19A1, PRKACA, NR3C1
398.2PRKACG, GNAS, PRKACB, ESR1, PRKACA
40
Show member pathways
8.2PRKACB, PRKACG, PDE11A, PDE8B, PRKACA, GNAS
418.2ESR1, PRKACG, CTNNB1, PRKACB, PRKACA
428.2PRKACA, ESR1, PRKACB, PRKACG, CTNNB1
43
Show member pathways
Development A2B receptor action via G protein alpha s60
8.2CTNNB1, PRKAR1A, PRKACG, PRKACB, PRKACA, GNAS
44
Show member pathways
8.2PRKACA, PRKACB, PRKACG, PRKAR1A, CTNNB1, GNAS
45
Show member pathways
8.1GNAS, PRKACG, CTNNB1, PRKACB, POMC, PRKACA
468.1PRKACB, PRKACA, POMC, NR3C1, SMARCA4, PRKACG
47
Show member pathways
Development Ligand independent activation of ESR1 and ESR260
7.7ESR2, GNAS, ESR1, PRKACA, PRKACB, PRKACG
48
Show member pathways
7.7ESR2, PRKAR1A, PRKACG, PRKACB, PRKACA, ESR1
49
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
7.6CTNNB1, GNAS, PRKACB, PRKACA, ESR1, ESR2
50
Show member pathways
6.6POMC, ESR1, GNAS, PDE11A, PDE8B, PRKACB

Compounds for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 24HMDB, 29IUPHAR
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Compounds related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 204)
idCompoundScoreTop Affiliating Genes
1betamethasone45 1110.6SYP, CYP19A1, POMC, NR3C1
2aminoglutethimide45 1110.4NR3C1, CYP19A1, ESR1, POMC
3idoxifene459.4ESR1, PGR, CYP19A1
4estradiol benzoate459.4CYP19A1, PGR, ESR2, ESR1
5leuprolide acetate459.3PGR, CYP19A1, ESR1, ESR2
6trilostane45 1110.3ESR2, PGR, ESR1, NR3C1
7anastrozole45 51 1111.3PGR, ESR1, CYP19A1, ESR2
8exemestane45 51 61 1112.3ESR2, CYP19A1, ESR1, PGR
9letrozole45 51 61 1112.2PGR, SYP, ESR1, CYP19A1, ESR2
10bisphenol a459.2CYP19A1, PGR, ESR2, ESR1
11megestrol acetate459.1CYP19A1, POMC, ESR1, NR3C1, PGR
12pka inhibitor fragment (6-22) amide619.1PRKAR1A, PRKACA, PRKACG, PRKACB
13camps-sp, triethylammonium salt619.1PRKACA, PRKACB, PRKACG, PRKAR1A
14h 89 dihydrochloride619.1PRKACG, PRKACB, PRKACA, PRKAR1A
15toremifene45 1110.1ESR1, ESR2, CYP19A1, PGR
16pki 14-22 amide, myristoylated619.1PRKACA, PRKACB, PRKACG, PRKAR1A
17nandrolone45 2410.1CYP19A1, PGR, ESR2, ESR1, NR3C1
18clomiphene citrate459.0CYP19A1, PGR, ESR2, ESR1
19fulvestrant45 51 29 1112.0CYP19A1, ESR1, ESR2, PGR
20dhea458.9POMC, IGFBP2, ESR2, NR3C1, CYP19A1
21gaba458.8CHGA, SYP, NCAM1, PGR, ESR2, POMC
224-hydroxytamoxifen458.8CTNNB1, NR3C1, ESR1, ESR2, CYP19A1, PGR
23forskolin45 51 1110.7SYP, POMC, CHGA, PRKACA, PRKAR1A, IGFBP2
24bicalutamide45 61 1110.7CYP19A1, CTNNB1, CHGA, ESR1, IGFBP2, ESR2
25acth458.7NR3C1, SYP, CHGA, POMC, GNAS, IGFBP2
26vitamin d458.7CTNNB1, PRKAR1A, CHGA, CYP19A1, NR3C1, ESR2
27dopamine45 29 24 1111.6NR3C1, NCAM1, CHGA, ESR2, POMC, GNAS
28mifepristone45 29 61 1111.6ESR1, NR3C1, ESR2, CYP19A1, CTNNB1, PGR
29steroidal458.5IGFBP2, CYP19A1, NR3C1, ESR1, ESR2, PGR
30progestins458.5PGR, NR3C1, ESR1, IGFBP2, CYP19A1, ESR2
31kt 572045 61 2910.4PRKACA, PRKACB, PRKACG, PRKAR1A
32paraffin458.4POMC, PGR, ESR2, ESR1, CHGA, SYP
33doxorubicin45 51 1110.3NR3C1, NCAM1, CTNNB1, ESR1, ESR2, PGR
34glutamine458.3SYP, NR3C1, NCAM1, POMC, CTNNB1, GNAS
35progestin458.3NR3C1, ESR1, ESR2, PGR, POMC, CYP19A1
36cysteine458.3SMARCA4, GNAS, ESR2, CHGA, NCAM1, SYP
37tamoxifen45 51 29 1111.2CTNNB1, CHGA, ESR1, ESR2, PGR, CYP19A1
38dihydrotestosterone45 29 24 1111.2IGFBP2, CYP19A1, PGR, ESR2, ESR1, NR3C1
39estradiol45 24 1110.0IGFBP2, CYP19A1, PGR, NR3C1, SYP, ESR2
40arginine457.7CYP19A1, IGFBP2, SMARCA4, POMC, GNAS, ESR2
41cycloheximide457.7CYP19A1, IGFBP2, CTNNB1, NR3C1, CHGA, ESR1
42gnrh457.5CYP19A1, GNAS, POMC, PGR, ESR2, ESR1
43vegf457.5SYP, PGR, CTNNB1, ESR2, ESR1, NR3C1
44retinoic acid45 248.3CTNNB1, NCAM1, NR3C1, SYP, CHGA, PGR
45dexamethasone45 51 29 1110.2CTNNB1, NCAM1, NR3C1, SYP, PRKACA, CHGA
46cyclic amp45 248.2PDE8B, PDE11A, CNC2, SYP, GNAS, SMARCA4
47testosterone45 61 24 119.9SYP, NR3C1, NCAM1, CTNNB1, CHGA, ESR1
48estrogen456.9PGR, ESR2, ESR1, POMC, CHGA, NR3C1
49steroid456.8SYP, PRKAR1A, CHGA, ESR1, ESR2, PGR
50progesterone45 29 61 24 1110.7GNAS, POMC, PGR, ESR2, ESR1, CHGA

GO Terms for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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16Gene Ontology
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Cellular components related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1AMP-activated protein kinase complexGO:0315889.8PRKAR1A, PRKACA
2cAMP-dependent protein kinase complexGO:0059529.4PRKAR1A, PRKACB, PRKACA
3membraneGO:0160208.6CYP19A1, GNAS, ESR1, PRKACA, NR3C1, CTNNB1
4extracellular regionGO:0055768.5GNAS, POMC, ESR2, CHGA, NCAM1, IGFBP2
5nucleoplasmGO:0056547.8PGR, ESR2, ESR1, PRKACB, NR3C1, CTNNB1
6cytosolGO:0058297.3GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A, PDE11A

Biological processes related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1glial cell fate determinationGO:00740310.3CTNNB1, SMARCA4
2hair follicle placode formationGO:06078910.2CTNNB1, GNAS
3negative regulation of androgen receptor signaling pathwayGO:06076610.1ESR2, SMARCA4
4cAMP catabolic processGO:00619810.1PDE8B, PDE11A
5uterus developmentGO:06006510.0ESR1, ESR2
6embryonic hindlimb morphogenesisGO:03511610.0SMARCA4, GNAS, CTNNB1
7vagina developmentGO:06006810.0ESR1, ESR2
8hindbrain developmentGO:0309029.8SMARCA4, CTNNB1
9intracellular estrogen receptor signaling pathwayGO:0305209.8ESR1, ESR2
10positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.7ESR1, ESR2, SMARCA4
11androgen metabolic processGO:0082099.7ESR1, CYP19A1
12response to estradiolGO:0323559.4CTNNB1, ESR1, IGFBP2
13transcription initiation from RNA polymerase II promoterGO:0063679.3NR3C1, ESR1, ESR2, PGR
14triglyceride catabolic processGO:0194339.3PRKACG, PRKACB, PRKACA
15gluconeogenesisGO:0060949.3PRKACA, PRKACB, PRKACG
16activation of protein kinase A activityGO:0341999.1PRKAR1A, PRKACG, PRKACB, PRKACA
17activation of phospholipase C activityGO:0072029.1PRKACA, PRKACB, PRKACG, PRKAR1A
18fibroblast growth factor receptor signaling pathwayGO:0085439.1PRKAR1A, PRKACG, PRKACB, PRKACA
19epidermal growth factor receptor signaling pathwayGO:0071739.0PRKACA, PRKACB, PRKACG, PRKAR1A
20glucose metabolic processGO:0060069.0PRKACA, PRKACB, PRKACG
21neurotrophin TRK receptor signaling pathwayGO:0480119.0PRKACA, PRKACB, PRKACG, PRKAR1A
22intracellular signal transductionGO:0355568.9PRKACA, PRKACB, PRKACG, PRKAR1A
23cellular response to glucagon stimulusGO:0713778.9GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A
24water transportGO:0068338.8GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A
25regulation of insulin secretionGO:0507968.8GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A
26energy reserve metabolic processGO:0061128.8PRKAR1A, PRKACG, PRKACB, PRKACA, GNAS
27transmembrane transportGO:0550858.8GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A
28innate immune responseGO:0450878.7PRKACA, PRKACB, PRKACG, PRKAR1A, CTNNB1
29blood coagulationGO:0075968.5GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A, PDE11A
30small molecule metabolic processGO:0442817.8CYP19A1, GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A
31signal transductionGO:0071656.5NR3C1, IGFBP2, POMC, PGR, ESR2, ESR1

Molecular functions related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-nucleotide phosphodiesterase activityGO:00411410.1PDE11A, PDE8B
2cAMP bindingGO:03055210.0PDE11A, PRKAR1A
3estrogen response element bindingGO:0340569.9ESR1, ESR2
4estrogen receptor activityGO:0302849.9ESR1, ESR2
5ionotropic glutamate receptor bindingGO:0352559.8GNAS, CTNNB1
6steroid hormone receptor activityGO:0037079.6PGR, ESR2, ESR1
7core promoter sequence-specific DNA bindingGO:0010469.5ESR1, ESR2
8steroid bindingGO:0054969.2NR3C1, ESR1, ESR2, PGR
9enzyme bindingGO:0198999.2PGR, ESR2, ESR1, CTNNB1
10cAMP-dependent protein kinase activityGO:0046919.1PRKACG, PRKACB, PRKACA
11protein bindingGO:0055156.3IGFBP2, SMARCA4, GNAS, PGR, ESR2, ESR1

Products for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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Sources for Primary Pigmented Nodular Adrenocortical Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet