MCID: PRM051
MIFTS: 54

Primary Pigmented Nodular Adrenocortical Disease malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases categories

Summaries for Primary Pigmented Nodular Adrenocortical Disease

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Disease Ontology:9 An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.

MalaCards based summary: Primary Pigmented Nodular Adrenocortical Disease, also known as ppnad, is related to cushing's syndrome and acth-independent macronodular adrenal hyperplasia, and has symptoms including hypercortisolism, abnormality of the genital system and diabetes mellitus. 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 adrenal gland, cortex and adrenal cortex, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Aliases & Classifications for Primary Pigmented Nodular Adrenocortical Disease

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 33MeSH, 26ICD10 via Orphanet
See all sources

Primary Pigmented Nodular Adrenocortical Disease, Aliases & Descriptions:

Name: Primary Pigmented Nodular Adrenocortical Disease 9 41 47
 
Ppnad 41 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
primary pigmented nodular adrenocortical disease:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology9 DOID:0060280
Orphanet47 189439
ICD10 via Orphanet26 E24.8

Related Diseases for Primary Pigmented Nodular Adrenocortical Disease

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Diseases in the Primary Pigmented Nodular Adrenocortical Disease family:

Pigmented Nodular Adrenocortical Disease, Primary, 2 Pigmented Nodular Adrenocortical Disease, Primary, 3
Pigmented Nodular Adrenocortical Disease, Primary, 1 Pigmented Nodular Adrenocortical Disease, Primary, 4

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

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1cushing's syndrome31.8NR3C1, POMC
2acth-independent macronodular adrenal hyperplasia31.3GNAS
3adenoma30.1CNC2, SMARCA4, CTNNB1, SYP, IGFBP2, GNAS
4adrenal adenoma30.0POMC, PRKAR1A, CNC2, CYP19A1, GNAS
5pituitary adenoma29.6ESR2, PRKAR1A, SYP, CNC2, NR3C1, NCAM1
6gangliocytoma10.6SYP
7adrenal carcinoma10.5POMC
8pituitary carcinoma10.5POMC
9rhabdoid tumor10.5SYP
10zollinger-ellison syndrome10.5CHGA
11aromatase excess syndrome10.5CYP19A1
12central neurocytoma10.5CHGA, SYP
13antley-bixler syndrome10.4CYP19A1
14islet cell tumor10.4CHGA, SYP
15pineocytoma10.4CHGA, SYP
16merkel cell carcinoma10.4CHGA, SYP
17mccune-albright syndrome, somatic, mosaic10.4PRKAR1A, GNAS
18acrodysostosis10.4GNAS, PRKAR1A
19dysembryoplastic neuroepithelial tumor10.4SYP
20multiple endocrine neoplasia 110.4PRKAR1A, CHGA
21acinar cell carcinoma10.4CHGA, CTNNB1
22medullary thyroid carcinoma, familial10.4POMC, PRKAR1A, CHGA
23cerebral meningioma10.4PGR
24parathyroid adenoma10.3CHGA, GNAS, PRKAR1A
25pituitary-dependent cushing's disease10.3NR3C1, POMC
26neuroectodermal tumor10.3SYP, NCAM1
27aldosteronism, glucocorticoid-remediable10.3NR3C1, POMC
28adrenocortical carcinoma10.3PRKAR1A, IGFBP2, CTNNB1
29nelson syndrome10.3POMC, NR3C1
30hypoglycemia10.3IGFBP2, CHGA, POMC
31germ cell cancer10.3ESR2, NCAM1
32craniopharyngioma10.3CTNNB1, POMC
33thyroid cancer10.3CHGA, GNAS, PRKAR1A
34neuroendocrine tumor10.3CHGA, NCAM1, SYP
35paraganglioma10.3CHGA, SYP, NCAM1
36oligodendroglioma10.3IGFBP2, SYP, NCAM1
37precocious puberty10.2GNAS, POMC, CYP19A1
38leydig cell tumor10.2GNAS, CYP19A1, POMC
39neuroblastoma10.2NCAM1, SYP
40estrogen excess10.2PGR, CYP19A1
41nephrotic syndrome10.2POMC, IGFBP2, NR3C1
42thyroid adenoma10.2GNAS, CNC2, PRKAR1A
43lung cancer10.2NCAM1, SYP, CHGA
44ganglioneuroma10.2CHGA, SYP, NCAM1, POMC
45chronic fatigue syndrome10.2POMC, NR3C1
46pancreatic cancer10.2CTNNB1, CHGA, SYP, ESR2
47congenital adrenal hyperplasia10.2NR3C1, CYP19A1, POMC
48carney complex variant10.2GNAS, PDE8B, POMC, PDE11A, PRKAR1A
49polycystic ovary syndrome10.1CYP19A1, ESR2, POMC, IGFBP2
50sertoli cell tumor10.1SYP, PGR, CYP19A1

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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Symptoms:

 47 (show all 15)
  • adrenal glands anomalies
  • cortico-adrenal hyperplasia/hypersecretion
  • striae
  • thin skin
  • chronic arterial hypertension
  • diabetes mellitus
  • late puberty/hypogonadism/hypogenitalism
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • truncal obesity
  • short stature/dwarfism/nanism
  • asthenia/fatigue/weakness
  • myopathy

HPO human phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

(show all 13)
id Description Frequency HPO Source Accession
1 hypercortisolism hallmark (90%) HP:0001578
2 abnormality of the genital system typical (50%) HP:0000078
3 diabetes mellitus typical (50%) HP:0000819
4 hypertension typical (50%) HP:0000822
5 thin skin typical (50%) HP:0000963
6 striae distensae typical (50%) HP:0001065
7 muscle weakness typical (50%) HP:0001324
8 truncal obesity typical (50%) HP:0001956
9 recurrent fractures typical (50%) HP:0002757
10 amyotrophy typical (50%) HP:0003202
11 short stature typical (50%) HP:0004322
12 reduced bone mineral density typical (50%) HP:0004349
13 myopathy occasional (7.5%) HP:0003198

Drugs & Therapeutics for Primary Pigmented Nodular Adrenocortical Disease

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

31
Adrenal gland, Cortex, Adrenal cortex, Bone, Skin, Pituitary

Animal Models for Primary Pigmented Nodular Adrenocortical Disease or affiliated genes

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MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

35 (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:00020068.4ESR1, PRKACA, PRKAR1A, CTNNB1, ESR2, POMC
5MP:00053888.4CTNNB1, ESR1, ESR2, GNAS, SMARCA4, PRKAR1A
6MP:00053818.3ESR2, SMARCA4, CTNNB1, NR3C1, PRKAR1A, ESR1
7MP:00030128.1GNAS, ESR2, ESR1, SYP, POMC, CTNNB1
8MP:00053697.9ESR1, ESR2, PGR, PRKAR1A, NR3C1, CTNNB1
9MP:00053897.8PRKAR1A, ESR1, PRKACA, CHGA, ESR2, PGR
10MP:00107717.8CYP19A1, CTNNB1, NR3C1, ESR1, GNAS, SMARCA4
11MP:00053807.7PRKACA, ESR1, PRKACB, PGR, SMARCA4, CTNNB1
12MP:00053707.7ESR2, CTNNB1, NR3C1, ESR1, POMC, GNAS
13MP:00028737.7NR3C1, IGFBP2, CYP19A1, PGR, CTNNB1, ESR2
14MP:00053797.5PRKACA, ESR2, PGR, PRKAR1A, NR3C1, CTNNB1
15MP:00053677.4ESR1, IGFBP2, SMARCA4, GNAS, POMC, ESR2
16MP:00053787.4ESR2, NCAM1, NR3C1, PRKAR1A, CTNNB1, CHGA
17MP:00053847.3SMARCA4, GNAS, CTNNB1, NCAM1, NR3C1, PRKAR1A
18MP:00053907.1CYP19A1, CTNNB1, PGR, ESR2, GNAS, PRKAR1A
19MP:00053767.1PRKAR1A, CTNNB1, PDE8B, NR3C1, PRKACA, CHGA
20MP:00053977.0PGR, IGFBP2, CYP19A1, SMARCA4, GNAS, POMC
21MP:00053877.0ESR1, ESR2, PGR, POMC, GNAS, SMARCA4
22MP:00053866.7ESR2, PGR, POMC, GNAS, CYP19A1, ESR1
23MP:00053856.7GNAS, SMARCA4, CYP19A1, CTNNB1, POMC, PGR
24MP:00036316.5NCAM1, CTNNB1, SMARCA4, NR3C1, ESR2, ESR1
25MP:00107686.4POMC, CTNNB1, PGR, NCAM1, NR3C1, PRKAR1A

Publications for Primary Pigmented Nodular Adrenocortical Disease

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Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
mTOR pathway is activated by PKA in adrenocortical cells and participates in vivo to apoptosis resistance in primary pigmented nodular adrenocortical disease (PPNAD). (24865460)
2014
2
Does somatostatin have a role in the regulation of cortisol secretion in primary pigmented nodular adrenocortical disease (ppnad)? a clinical and in vitro investigation. (24512486)
2014
3
A rare case of familial Cushing's syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease. (24859511)
2014
4
A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease. (24978147)
2014
5
Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings. (24805858)
2014
6
Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. (23065993)
2013
7
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
8
Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease--case presentation. (21932601)
2011
9
Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected. (20924687)
2011
10
A case of subclinical Cushing syndrome due to primary pigmented nodular adrenocortical disease associated with adrenocortical adenoma. (21442380)
2011
11
Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl. (21648292)
2011
12
Primary pigmented nodular adrenocortical disease. (21717412)
2011
13
Primary pigmented nodular adrenocortical disease. (22121318)
2011
14
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review. (20099223)
2010
15
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. (20190548)
2010
16
CT findings of primary pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome. (20489078)
2010
17
Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report. (20670433)
2010
18
MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling. (19351815)
2009
19
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
20
Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. (18491255)
2008
21
Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease. (18508999)
2008
22
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). (18419788)
2008
23
Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A. (17280861)
2007
24
Primary pigmented nodular adrenocortical disease and Cushing's syndrome. (18209861)
2007
25
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
26
Primary pigmented nodular adrenocortical disease with synaptophysin immunoreactivity in two thai children. (17624220)
2007
27
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. (16464939)
2006
28
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. (17322955)
2006
29
Primary pigmented nodular adrenocortical disease: report of 5 cases. (16701022)
2006
30
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? (15240590)
2004
31
Clinical and molecular genetics of primary pigmented nodular adrenocortical disease. (15761532)
2004
32
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
33
Carney complex, a familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: a case report. (12670039)
2002
34
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. (12213893)
2002
35
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. (10523219)
1999
36
Synaptophysin immunoreactivity in primary pigmented nodular adrenocortical disease: neuroendocrine properties of tumors associated with Carney complex. (10084605)
1999
37
Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy. (9100606)
1997
38
Relapse of Cushing's syndrome following the treatment of primary pigmented nodular adrenocortical disease by unilateral adrenalectomy. (8811225)
1996
39
Cushing's syndrome due to primary pigmented nodular adrenocortical disease--a case report reviews of the literature. (7626560)
1995
40
Use of a two-site immunoradiometric assay to resolve a factitious elevation of ACTH in primary pigmented nodular adrenocortical disease. (8186827)
1994
41
Bilateral primary pigmented nodular adrenocortical disease--a case of report describing a rare cause of Cushing's syndrome. (7786440)
1994
42
Carney's complex with primary pigmented nodular adrenocortical disease and spotty pigmentations. (8495049)
1993
43
Cushing's syndrome due to primary pigmented nodular adrenocortical disease with cardiac myxomas and mucocutaneous lentigines. (1600314)
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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Clinvar genetic disease variations for Primary Pigmented Nodular Adrenocortical Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PRKAR1ANM_002734.4: c.-7+1G> Asingle nucleotide variantPathogenicGRCh37Chr 17, 66508690: 66508690
2PRKAR1APRKAR1A, 16-BP DELdeletionPathogenic
3PRKAR1ANM_002734.4: c.709-7_709-2delTTTTTAdeletionPathogenicrs281864801GRCh37Chr 17, 66523974: 66523979
4PDE11ANM_001077197.1(PDE11A): c.169C> T (p.Arg57Ter)single nucleotide variantPathogenicrs76308115GRCh37Chr 2, 178879181: 178879181
5PDE11APDE11A, 1-BP DEL, 171TdeletionPathogenic
6PDE8BNM_003719.3(PDE8B): c.914A> C (p.His305Pro)single nucleotide variantPathogenicrs121918360GRCh37Chr 5, 76645281: 76645281
7PRKACANM_002730.3(PRKACA): c.617T> G (p.Leu206Arg)single nucleotide variantLikely pathogenic, Pathogenicrs386352352GRCh37Chr 19, 14208416: 14208416

Expression for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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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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Pathways related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards Suite gene sharing:

(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 Receptors36
9.0PGR, ESR2, ESR1, NR3C1
38.9PRKACG, PRKACB, PRKACA
48.9PRKACB, PRKACG, PRKACA
58.9PRKACG, PRKACA, PRKACB
68.7PRKACA, PRKACG, PRKAR1A, PRKACB
78.7PRKAR1A, PRKACG, PRKACB, PRKACA
88.7PRKACB, PRKACA, PRKACG, PRKAR1A
98.7PRKAR1A, PRKACB, PRKACA, PRKACG
108.7PRKAR1A, PRKACG, PRKACB, PRKACA
118.7PRKACA, PRKACB, PRKACG, PRKAR1A
12
Show member pathways
8.6PRKACB, GNAS, PRKACA, PRKACG
138.6PRKACA, PRKACG, PRKACB, GNAS
148.6PRKACA, PRKACB, PRKACG, GNAS
158.6GNAS, PRKACG, PRKACB, PRKACA
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
Apoptosis and survival BAD phosphorylation58
Development Alpha 2 adrenergic receptor activation of ERK58
Chemotaxis CXCR4 signaling pathway58
8.4PRKACA, GNAS, PRKACB, PRKACG, PRKAR1A
20
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
8.4PRKAR1A, PRKACG, PRKACB, GNAS, PRKACA
218.4PRKACG, PRKACB, PRKACA, GNAS, PRKAR1A
22
Show member pathways
8.4PRKACB, PRKACA, GNAS, PRKAR1A, PRKACG
238.4GNAS, PRKACA, PRKACG, PRKAR1A, PRKACB
248.4PRKACG, GNAS, PRKACA, PRKACB, PRKAR1A
25
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
8.4PRKACB, PRKACA, GNAS, PRKACG, PRKAR1A
26
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A
27
Show member pathways
8.4PRKACA, PRKAR1A, PRKACG, PRKACB, GNAS
28
Show member pathways
8.4PRKACB, PRKACG, GNAS, PRKACA, PRKAR1A
298.4CTNNB1, PRKAR1A, PRKACG, PRKACA, PRKACB
30
Show member pathways
Development A1 receptor signaling58
G protein signaling G Protein alpha q signaling cascades58
8.4PRKAR1A, PRKACB, PRKACG, PRKACA, CTNNB1
31
Show member pathways
8.4PRKACG, PRKACA, POMC, GNAS, PRKACB
32
Show member pathways
Calcium Regulation in the Cardiac Cell36
8.3IGFBP2, PRKACA, PRKACB, PRKAR1A, GNAS
33
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
8.3GNAS, PRKACB, PRKACG, CTNNB1, PRKACA
348.3PRKACA, CYP19A1, GNAS, PRKACB, PRKACG
358.3NR3C1, CTNNB1, PRKACA, ESR2, PRKACB, PRKAR1A
36
Show member pathways
Signal transduction cAMP signaling58
8.2PRKACG, PRKACB, PRKACA, GNAS, PDE8B, PRKAR1A
37
Show member pathways
8.2PRKACB, PRKACG, PDE11A, PDE8B, PRKACA, GNAS
388.2PRKACG, PRKACB, CYP19A1, PRKACA, NR3C1
39
Show member pathways
8.2PRKACB, PRKAR1A, PRKACA, GNAS, PRKACG, POMC
408.2PRKACG, GNAS, PRKACB, ESR1, PRKACA
418.2ESR1, PRKACG, CTNNB1, PRKACB, PRKACA
428.2PRKACA, ESR1, PRKACB, PRKACG, CTNNB1
43
Show member pathways
8.1PRKACA, PRKACB, PRKACG, PRKAR1A, CTNNB1, GNAS
44
Show member pathways
Development A2B receptor action via G protein alpha s58
8.1CTNNB1, PRKAR1A, PRKACG, PRKACB, PRKACA, 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 ESR258
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 signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
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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Compounds related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 204)
idCompoundScoreTop Affiliating Genes
1betamethasone43 1210.6SYP, CYP19A1, POMC, NR3C1
2aminoglutethimide43 1210.4NR3C1, CYP19A1, ESR1, POMC
3idoxifene439.4ESR1, PGR, CYP19A1
4estradiol benzoate439.4CYP19A1, PGR, ESR2, ESR1
5leuprolide acetate439.3PGR, CYP19A1, ESR1, ESR2
6trilostane43 1210.3ESR2, PGR, ESR1, NR3C1
7anastrozole43 49 1211.3PGR, ESR1, CYP19A1, ESR2
8exemestane43 49 59 1212.3ESR2, CYP19A1, ESR1, PGR
9letrozole43 49 59 1212.2PGR, SYP, ESR1, CYP19A1, ESR2
10bisphenol a439.2CYP19A1, PGR, ESR2, ESR1
11pka inhibitor fragment (6-22) amide599.1PRKAR1A, PRKACA, PRKACG, PRKACB
12megestrol acetate439.1CYP19A1, POMC, ESR1, NR3C1, PGR
13camps-sp, triethylammonium salt599.1PRKACA, PRKACB, PRKACG, PRKAR1A
14h 89 dihydrochloride599.1PRKACG, PRKACB, PRKACA, PRKAR1A
15pki 14-22 amide, myristoylated599.1PRKACA, PRKACB, PRKACG, PRKAR1A
16toremifene43 1210.1ESR1, ESR2, CYP19A1, PGR
17nandrolone43 2410.1CYP19A1, PGR, ESR2, ESR1, NR3C1
18clomiphene citrate439.0CYP19A1, PGR, ESR2, ESR1
19fulvestrant43 49 28 1212.0CYP19A1, ESR1, ESR2, PGR
20dhea438.9POMC, IGFBP2, ESR2, NR3C1, CYP19A1
21gaba438.8CHGA, SYP, NCAM1, PGR, ESR2, POMC
224-hydroxytamoxifen438.7CTNNB1, NR3C1, ESR1, ESR2, CYP19A1, PGR
23bicalutamide43 59 1210.7CYP19A1, CTNNB1, CHGA, ESR1, IGFBP2, ESR2
24forskolin43 49 1210.7SYP, POMC, CHGA, PRKACA, PRKAR1A, IGFBP2
25acth438.7NR3C1, SYP, CHGA, POMC, GNAS, IGFBP2
26vitamin d438.6CTNNB1, PRKAR1A, CHGA, CYP19A1, NR3C1, ESR2
27dopamine43 28 24 1211.6NR3C1, NCAM1, CHGA, ESR2, POMC, GNAS
28mifepristone43 28 59 1211.5ESR1, NR3C1, ESR2, CYP19A1, CTNNB1, PGR
29steroidal438.5IGFBP2, CYP19A1, NR3C1, ESR1, ESR2, PGR
30progestins438.4PGR, NR3C1, ESR1, IGFBP2, CYP19A1, ESR2
31kt 572043 59 2810.4PRKACA, PRKACB, PRKACG, PRKAR1A
32paraffin438.4POMC, PGR, ESR2, ESR1, CHGA, SYP
33doxorubicin43 49 1210.3NR3C1, NCAM1, CTNNB1, ESR1, ESR2, PGR
34progestin438.2NR3C1, ESR1, ESR2, PGR, POMC, CYP19A1
35glutamine438.2SYP, NR3C1, NCAM1, POMC, CTNNB1, GNAS
36cysteine438.2SMARCA4, GNAS, ESR2, CHGA, NCAM1, SYP
37tamoxifen43 49 28 1211.2CTNNB1, CHGA, ESR1, ESR2, PGR, CYP19A1
38dihydrotestosterone43 28 24 1211.1IGFBP2, CYP19A1, PGR, ESR2, ESR1, NR3C1
39estradiol43 24 1210.0IGFBP2, CYP19A1, PGR, NR3C1, SYP, ESR2
40cycloheximide437.7CYP19A1, IGFBP2, CTNNB1, NR3C1, CHGA, ESR1
41arginine437.6CYP19A1, IGFBP2, SMARCA4, POMC, GNAS, ESR2
42gnrh437.4CYP19A1, GNAS, POMC, PGR, ESR2, ESR1
43vegf437.4SYP, PGR, CTNNB1, ESR2, ESR1, NR3C1
44retinoic acid43 248.3CTNNB1, NCAM1, NR3C1, SYP, CHGA, PGR
45cyclic amp43 248.3PDE8B, PDE11A, CNC2, SYP, GNAS, SMARCA4
46dexamethasone43 49 28 1210.2CTNNB1, NCAM1, NR3C1, SYP, PRKACA, CHGA
47testosterone43 59 24 129.9SYP, NR3C1, NCAM1, CTNNB1, CHGA, ESR1
48estrogen436.9PGR, ESR2, ESR1, POMC, CHGA, NR3C1
49steroid436.8SYP, PRKAR1A, CHGA, ESR1, ESR2, PGR
50progesterone43 28 59 24 1210.6GNAS, POMC, PGR, ESR2, ESR1, CHGA

GO Terms for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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Cellular components related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1AMP-activated protein kinase complexGO:00315889.8PRKAR1A, PRKACA
2cAMP-dependent protein kinase complexGO:00059529.4PRKAR1A, PRKACA, PRKACB
3membraneGO:00160208.6NR3C1, CTNNB1, PRKACA, ESR1, GNAS, CYP19A1
4extracellular regionGO:00055768.5IGFBP2, GNAS, POMC, ESR2, CHGA, NCAM1
5nucleoplasmGO:00056547.7PGR, ESR2, ESR1, NR3C1, CTNNB1, PRKACB
6cytosolGO:00058297.4GNAS, PRKACA, PRKACB, PRKACG, PDE11A, PDE8B

Biological processes related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards Suite gene sharing:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1glial cell fate determinationGO:000740310.3CTNNB1, SMARCA4
2hair follicle placode formationGO:006078910.2CTNNB1, GNAS
3cAMP catabolic processGO:000619810.2PDE8B, PDE11A
4negative regulation of androgen receptor signaling pathwayGO:006076610.1ESR2, SMARCA4
5uterus developmentGO:006006510.0ESR2, ESR1
6embryonic hindlimb morphogenesisGO:003511610.0GNAS, SMARCA4, CTNNB1
7vagina developmentGO:006006810.0ESR1, ESR2
8hindbrain developmentGO:00309029.8SMARCA4, CTNNB1
9intracellular estrogen receptor signaling pathwayGO:00305209.8ESR2, ESR1
10positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.7ESR2, ESR1, SMARCA4
11androgen metabolic processGO:00082099.7CYP19A1, ESR1
12response to estradiolGO:00323559.4CTNNB1, IGFBP2, ESR1
13transcription initiation from RNA polymerase II promoterGO:00063679.3PGR, ESR2, NR3C1, ESR1
14triglyceride catabolic processGO:00194339.3PRKACA, PRKACB, PRKACG
15gluconeogenesisGO:00060949.2PRKACA, PRKACB, PRKACG
16activation of protein kinase A activityGO:00341999.1PRKACB, PRKAR1A, PRKACG, PRKACA
17activation of phospholipase C activityGO:00072029.1PRKAR1A, PRKACB, PRKACG, PRKACA
18fibroblast growth factor receptor signaling pathwayGO:00085439.1PRKACA, PRKACB, PRKAR1A, PRKACG
19epidermal growth factor receptor signaling pathwayGO:00071739.0PRKACB, PRKACA, PRKACG, PRKAR1A
20glucose metabolic processGO:00060069.0PRKACG, PRKACA, PRKACB
21neurotrophin TRK receptor signaling pathwayGO:00480119.0PRKACG, PRKACA, PRKACB, PRKAR1A
22intracellular signal transductionGO:00355568.9PRKAR1A, PRKACB, PRKACG, PRKACA
23cellular response to glucagon stimulusGO:00713778.8PRKACG, PRKAR1A, PRKACA, GNAS, PRKACB
24water transportGO:00068338.8GNAS, PRKACA, PRKACB, PRKAR1A, PRKACG
25regulation of insulin secretionGO:00507968.8GNAS, PRKACA, PRKAR1A, PRKACB, PRKACG
26energy reserve metabolic processGO:00061128.8PRKACA, GNAS, PRKAR1A, PRKACG, PRKACB
27transmembrane transportGO:00550858.7PRKACB, GNAS, PRKAR1A, PRKACG, PRKACA
28innate immune responseGO:00450878.7PRKACA, PRKACB, PRKACG, PRKAR1A, CTNNB1
29blood coagulationGO:00075968.6PRKACB, GNAS, PRKACG, PRKAR1A, PDE11A, PRKACA
30small molecule metabolic processGO:00442817.8PRKAR1A, PRKACG, PRKACB, GNAS, CYP19A1, PRKACA
31signal transductionGO:00071656.6ESR1, IGFBP2, POMC, NR3C1, PDE11A, PRKAR1A

Molecular functions related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-nucleotide phosphodiesterase activityGO:000411410.2PDE11A, PDE8B
2cAMP bindingGO:003055210.1PDE11A, PRKAR1A
3estrogen response element bindingGO:00340569.9ESR1, ESR2
4estrogen receptor activityGO:00302849.9ESR1, ESR2
5ionotropic glutamate receptor bindingGO:00352559.8GNAS, CTNNB1
6steroid hormone receptor activityGO:00037079.5PGR, ESR2, ESR1
7core promoter sequence-specific DNA bindingGO:00010469.5ESR1, ESR2
8steroid bindingGO:00054969.2NR3C1, ESR1, ESR2, PGR
9enzyme bindingGO:00198999.2PGR, ESR2, ESR1, CTNNB1
10cAMP-dependent protein kinase activityGO:00046919.1PRKACG, PRKACB, PRKACA
11protein bindingGO:00055156.3IGFBP2, 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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3CDC
13ExPASy
14FMA
22GTR
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24HMDB
25ICD10
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27ICD9CM
28IUPHAR
29KEGG
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