PPNAD
MCID: PRM051
MIFTS: 52

Primary Pigmented Nodular Adrenocortical Disease (PPNAD) malady

Categories: Rare diseases, Reproductive diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Primary Pigmented Nodular Adrenocortical Disease

Aliases & Descriptions for Primary Pigmented Nodular Adrenocortical Disease:

Name: Primary Pigmented Nodular Adrenocortical Disease 12 50 56 14
Ppnad 50 56
Pigmented Nodular Adrenocortical Disease, Primary, 2 42
Pigmented Nodular Adrenocortical Disease, Primary, 1 42

Characteristics:

Orphanet epidemiological data:

56
primary pigmented nodular adrenocortical disease
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060280
Orphanet 56 ORPHA189439
ICD10 via Orphanet 34 E24.8

Summaries for Primary Pigmented Nodular Adrenocortical Disease

Disease Ontology : 12 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 pigmented nodular adrenocortical disease, primary, 3 and pigmented nodular adrenocortical disease, primary, 4, and has symptoms including fatigue, muscle weakness and diabetes mellitus. An important gene associated with Primary Pigmented Nodular Adrenocortical Disease is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha), and among its related pathways/superpathways are Signaling by GPCR and Nanog in Mammalian ESC Pluripotency. The drugs Epinephrine and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, cortex and adrenal cortex, and related phenotypes are Decreased viability in esophageal squamous lineage and Decreased cell migration

Related Diseases for Primary Pigmented Nodular Adrenocortical Disease

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)
id Related Disease Score Top Affiliating Genes
1 pigmented nodular adrenocortical disease, primary, 3 11.9
2 pigmented nodular adrenocortical disease, primary, 4 11.9
3 pigmented nodular adrenocortical disease, primary, 2 11.8
4 pigmented nodular adrenocortical disease, primary, 1 11.8
5 acth-independent macronodular adrenal hyperplasia 11.1
6 cushing's syndrome 10.5
7 peroneal nerve paralysis 10.3 CHGA SYP
8 thymus small cell carcinoma 10.3 CHGA SYP
9 brain stem ependymoma 10.3 CHGA SYP
10 extrahepatic biliary papillomatosis 10.2 CHGA SYP
11 prolactin producing pituitary tumor 10.2 CHGA SYP
12 adenoma 10.2
13 epithelioid malignant peripheral nerve sheath tumor 10.2 CHGA SYP
14 ameloblastoma 10.2 POMC PRKAR1A SYP
15 pharynx cancer 10.2 POMC PRKAR1A SYP
16 proliferative glomerulonephritis 10.2 CTNNB1 SYP
17 cartilage cancer 10.2 CHGA SYP
18 intrahepatic bile duct adenoma 10.2 NCAM1 SYP
19 villous adenocarcinoma 10.2 CHGA SYP
20 cold-induced sweating syndrome 2 10.2 GNAS POMC PRKAR1A
21 glomus tumor 10.2 NCAM1 SYP
22 bone benign neoplasm 10.2 CTNNB1 POMC SYP
23 glioma susceptibility 1 10.2 CHGA PRKAR1A SYP
24 adamantinous craniopharyngioma 10.2 GNAS POMC PRKAR1A
25 mitochondrial complex ii deficiency 10.2 CHGA POMC SYP
26 eccrine papillary adenocarcinoma 10.2 CHGA POMC SYP
27 cavernous hemangioma of face 10.2 CHGA CTNNB1 SYP
28 jejunal neuroendocrine tumor 10.2 CHGA SYP
29 leukemia, acute promyelocytic, somatic 10.1 CHGA GNAS PRKAR1A
30 synovitis 10.1 ESR1 SYP
31 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.1 GNAS NR3C1 POMC
32 renal pelvis adenocarcinoma 10.1 CHGA SYP
33 wheat allergy 10.1 PGR POMC SYP
34 pancreatic colloid cystadenoma 10.1 PGR POMC SYP
35 non specific chronic endometritis 10.1 CHGA NCAM1 SYP
36 superior vena cava syndrome 10.1 CHGA NCAM1 SYP
37 fragile x-associated tremor/ataxia syndrome 10.1 CHGA NCAM1 SYP
38 anal squamous cell carcinoma 10.1 CHGA NCAM1 SYP
39 uterine corpus myxoid leiomyosarcoma 10.1 CHGA NCAM1 SYP
40 pancreatic agenesis 10.1 CHGA NCAM1 SYP
41 myoepithelial carcinoma 10.1 CHGA NCAM1 SYP
42 retinal telangiectasia 10.1 CHGA NCAM1 SYP
43 spasmodic dysphonia 10.1 CHGA SYP
44 cavernous hemangioma of colon 10.1 NCAM1 PGR
45 urinary tract papillary transitional cell benign neoplasm 10.1 CHGA NCAM1 SYP
46 brachial plexus neuropathy 10.1 CHGA NCAM1 SYP
47 oral leukoedema 10.1 CHGA NCAM1 SYP
48 brown-vialetto-van laere syndrome 10.1 CHGA NCAM1 SYP
49 meige syndrome 10.1 CHGA NCAM1 SYP
50 merkel cell carcinoma 10.1 NR3C1 PDE11A POMC PRKAR1A

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



Diseases related to Primary Pigmented Nodular Adrenocortical Disease

Symptoms & Phenotypes for Primary Pigmented Nodular Adrenocortical Disease

Human phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Frequent (79-30%) HP:0012378
2 muscle weakness 56 32 Frequent (79-30%) HP:0001324
3 diabetes mellitus 56 32 Frequent (79-30%) HP:0000819
4 hypertension 56 32 Frequent (79-30%) HP:0000822
5 short stature 56 32 Frequent (79-30%) HP:0004322
6 myopathy 56 32 Occasional (29-5%) HP:0003198
7 osteoporosis 56 32 Frequent (79-30%) HP:0000939
8 skeletal muscle atrophy 56 32 Frequent (79-30%) HP:0003202
9 thin skin 56 32 Frequent (79-30%) HP:0000963
10 hypogonadism 56 32 Frequent (79-30%) HP:0000135
11 striae distensae 56 32 Frequent (79-30%) HP:0001065
12 slender build 56 32 Frequent (79-30%) HP:0001533
13 pigmented micronodular adrenocortical disease 56 32 Very frequent (99-80%) HP:0001580
14 increased susceptibility to fractures 56 32 Frequent (79-30%) HP:0002659
15 adrenal hyperplasia 56 32 Very frequent (99-80%) HP:0008221

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.61 CHGA CTNNB1 ESR1 GNAS PDE8B PGR
2 Decreased cell migration GR00055-A-1 9.55 PRKAR1A CTNNB1 NCAM1 PRKACA PRKACB
3 Increased cell death HMECs cells GR00103-A-0 9.02 CTNNB1 NR3C1 PGR PRKACA PRKACB

MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 CTNNB1 ESR1 ESR2 GNAS NCAM1 NR3C1
2 cardiovascular system MP:0005385 10.25 CHGA CTNNB1 ESR1 ESR2 GNAS NR3C1
3 homeostasis/metabolism MP:0005376 10.25 CHGA CTNNB1 ESR1 ESR2 GNAS NR3C1
4 mortality/aging MP:0010768 10.23 CHGA CTNNB1 ESR1 ESR2 GNAS NCAM1
5 endocrine/exocrine gland MP:0005379 10.22 ESR2 GNAS NR3C1 PGR POMC PRKACA
6 cellular MP:0005384 10.19 ESR2 GNAS NCAM1 NR3C1 PGR POMC
7 adipose tissue MP:0005375 10.11 ESR1 ESR2 GNAS NR3C1 POMC PRKACA
8 nervous system MP:0003631 10.11 CTNNB1 ESR1 ESR2 GNAS NCAM1 NR3C1
9 integument MP:0010771 10.04 CTNNB1 ESR1 ESR2 GNAS NR3C1 PGR
10 liver/biliary system MP:0005370 10.02 ESR1 ESR2 GNAS NR3C1 POMC PRKAR1A
11 neoplasm MP:0002006 10.01 CTNNB1 ESR1 ESR2 GNAS PGR POMC
12 muscle MP:0005369 9.98 CTNNB1 ESR1 ESR2 GNAS NR3C1 PGR
13 no phenotypic analysis MP:0003012 9.87 CTNNB1 ESR1 ESR2 GNAS NR3C1 PGR
14 normal MP:0002873 9.86 NR3C1 PGR PRKAR1A SYP CTNNB1 ESR1
15 renal/urinary system MP:0005367 9.81 GNAS NR3C1 PDE8B POMC PRKACA CHGA
16 reproductive system MP:0005389 9.56 CHGA CTNNB1 ESR1 ESR2 NR3C1 PGR
17 skeleton MP:0005390 9.28 CTNNB1 ESR1 ESR2 GNAS NR3C1 PGR

Drugs & Therapeutics for Primary Pigmented Nodular Adrenocortical Disease

Drugs for Primary Pigmented Nodular Adrenocortical Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
2
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754 657311
3 Adrenocorticotropic Hormone Phase 2
4 Cortisol succinate Phase 2
5 Hormones Phase 2
6 Hydrocortisone 17-butyrate 21-propionate Phase 2
7 Hydrocortisone acetate Phase 2
8 Epinephryl borate Phase 2
9 Racepinephrine Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting NCT02468193 Phase 2
2 Study to Evaluate CORT125134 in Patients With Cushing's Syndrome Recruiting NCT02804750 Phase 2
3 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
4 Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex Recruiting NCT00001452

Search NIH Clinical Center for Primary Pigmented Nodular Adrenocortical Disease

Cochrane evidence based reviews: pigmented nodular adrenocortical disease, primary, 2

Genetic Tests for Primary Pigmented Nodular Adrenocortical Disease

Anatomical Context for Primary Pigmented Nodular Adrenocortical Disease

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

39
Adrenal Gland, Cortex, Adrenal Cortex, Skin, Skeletal Muscle, Pituitary

Publications for Primary Pigmented Nodular Adrenocortical Disease

Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50) (show all 59)
id Title Authors Year
1
Use of 3-Dimensional Volumetric Modeling of Adrenal Gland Size in Patients with Primary Pigmented Nodular Adrenocortical Disease. ( 27065461 )
2016
2
A Novel Mutation in the type II+ Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease. ( 27580546 )
2016
3
Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD). ( 26390100 )
2015
4
Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings. ( 24805858 )
2014
5
A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease. ( 24978147 )
2014
6
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
7
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
8
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
9
Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. ( 23065993 )
2013
10
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
11
Primary pigmented nodular adrenocortical disease. ( 21717412 )
2011
12
A case of subclinical Cushing syndrome due to primary pigmented nodular adrenocortical disease associated with adrenocortical adenoma. ( 21442380 )
2011
13
Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease--case presentation. ( 21932601 )
2011
14
Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl. ( 21648292 )
2011
15
Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected. ( 20924687 )
2011
16
Primary pigmented nodular adrenocortical disease. ( 22121318 )
2011
17
CT findings of primary pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome. ( 20489078 )
2010
18
Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report. ( 20670433 )
2010
19
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. ( 19833579 )
2010
20
Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. ( 19915019 )
2010
21
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review. ( 20099223 )
2010
22
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. ( 20190548 )
2010
23
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
24
MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling. ( 19351815 )
2009
25
Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease. ( 18508999 )
2008
26
Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. ( 18491255 )
2008
27
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). ( 18419788 )
2008
28
Primary pigmented nodular adrenocortical disease with synaptophysin immunoreactivity in two thai children. ( 17624220 )
2007
29
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
30
Primary pigmented nodular adrenocortical disease and Cushing's syndrome. ( 18209861 )
2007
31
Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A. ( 17280861 )
2007
32
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. ( 16464939 )
2006
33
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. ( 17322955 )
2006
34
Primary pigmented nodular adrenocortical disease: report of 5 cases. ( 16701022 )
2006
35
PRKAR1A mutations in primary pigmented nodular adrenocortical disease. ( 17036196 )
2006
36
Bilateral adrenal Cushing's syndrome: macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease. ( 15850852 )
2005
37
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? ( 15240590 )
2004
38
Clinical and molecular genetics of primary pigmented nodular adrenocortical disease. ( 15761532 )
2004
39
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
40
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. ( 12213893 )
2002
41
Carney complex, a familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: a case report. ( 12670039 )
2002
42
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. ( 12424709 )
2002
43
Synaptophysin immunoreactivity in primary pigmented nodular adrenocortical disease: neuroendocrine properties of tumors associated with Carney complex. ( 10084605 )
1999
44
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. ( 10523219 )
1999
45
Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy. ( 9100606 )
1997
46
Relapse of Cushing's syndrome following the treatment of primary pigmented nodular adrenocortical disease by unilateral adrenalectomy. ( 8811225 )
1996
47
Cushing's syndrome due to primary pigmented nodular adrenocortical disease--a case report reviews of the literature. ( 7626560 )
1995
48
Bilateral primary pigmented nodular adrenocortical disease--a case of report describing a rare cause of Cushing's syndrome. ( 7786440 )
1994
49
Use of a two-site immunoradiometric assay to resolve a factitious elevation of ACTH in primary pigmented nodular adrenocortical disease. ( 8186827 )
1994
50
Carney's complex with primary pigmented nodular adrenocortical disease and spotty pigmentations. ( 8495049 )
1993

Variations for Primary Pigmented Nodular Adrenocortical Disease

ClinVar genetic disease variations for Primary Pigmented Nodular Adrenocortical Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A PRKAR1A, 16-BP DEL deletion Pathogenic
2 PRKAR1A NM_002734.4(PRKAR1A): c.-7+1G> A single nucleotide variant Pathogenic rs587776773 GRCh37 Chromosome 17, 66508690: 66508690
3 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh37 Chromosome 17, 66523974: 66523979

Expression for Primary Pigmented Nodular Adrenocortical Disease

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

Pathways for Primary Pigmented Nodular Adrenocortical Disease

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

(show top 50) (show all 66)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.1 CTNNB1 ESR1 GNAS NCAM1 NR3C1 PDE11A
2
Show member pathways
13.22 CTNNB1 ESR1 ESR2 GNAS PRKACA PRKACB
3
Show member pathways
13.07 GNAS PDE8B POMC PRKACA PRKACB PRKAR1A
4
Show member pathways
12.87 GNAS POMC PRKACA PRKACB PRKAR1A
5
Show member pathways
12.86 CTNNB1 ESR1 ESR2 GNAS PGR PRKACA
6
Show member pathways
12.79 CTNNB1 GNAS PRKACA PRKACB PRKAR1A
7
Show member pathways
12.73 CTNNB1 ESR1 ESR2 GNAS PRKACA PRKACB
8
Show member pathways
12.57 GNAS PRKACA PRKACB PRKAR1A
9
Show member pathways
12.55 GNAS PRKACA PRKACB PRKAR1A
10
Show member pathways
12.52 GNAS PDE11A PDE8B PRKACA PRKACB
11
Show member pathways
12.51 GNAS PRKACA PRKACB PRKAR1A
12 12.51 NCAM1 POMC PRKACA PRKAR1A SYP
13
Show member pathways
12.5 CTNNB1 NR3C1 PRKACA PRKAR1A
14
Show member pathways
12.49 GNAS POMC PRKACA PRKACB PRKAR1A
15
Show member pathways
12.42 GNAS PRKACA PRKACB PRKAR1A
16
Show member pathways
12.37 GNAS PRKACA PRKACB PRKAR1A
17
Show member pathways
12.36 GNAS PRKACA PRKACB PRKAR1A
18 12.35 GNAS PRKACA PRKACB PRKAR1A
19
Show member pathways
12.34 CTNNB1 GNAS PRKACA PRKACB PRKAR1A
20
Show member pathways
12.31 CTNNB1 PRKACA PRKACB PRKAR1A
21 12.29 CTNNB1 ESR1 PRKACA PRKACB
22
Show member pathways
12.25 CTNNB1 GNAS POMC PRKACA PRKACB
23
Show member pathways
12.19 GNAS PRKACA PRKACB PRKAR1A
24
Show member pathways
12.17 GNAS PRKACA PRKACB PRKAR1A
25 12.09 GNAS PDE11A PDE8B POMC
26 12.05 CTNNB1 GNAS PRKACA PRKACB PRKAR1A
27 12 GNAS PRKACA PRKACB
28
Show member pathways
11.98 GNAS PRKACA PRKACB
29 11.96 GNAS PRKACA PRKACB
30
Show member pathways
11.96 ESR1 ESR2 GNAS PRKACA PRKACB PRKAR1A
31 11.94 CTNNB1 ESR1 PRKACA PRKACB
32 11.91 GNAS PRKACA PRKACB
33 11.89 ESR1 ESR2 NR3C1
34 11.87 GNAS PRKACA PRKACB
35 11.85 CTNNB1 GNAS POMC
36
Show member pathways
11.81 CTNNB1 GNAS PRKACA PRKACB PRKAR1A
37
Show member pathways
11.8 GNAS PRKACA PRKACB PRKAR1A
38
Show member pathways
11.78 ESR1 ESR2 NR3C1 PGR
39 11.76 GNAS PRKACA PRKACB PRKAR1A
40 11.75 PRKACA PRKACB PRKAR1A
41 11.73 GNAS PRKACA PRKACB
42 11.72 GNAS PRKACA PRKACB PRKAR1A
43 11.69 NR3C1 POMC PRKACA PRKACB
44 11.68 GNAS PRKACA PRKACB
45 11.58 GNAS PRKACA PRKACB
46 11.56 PRKACA PRKACB PRKAR1A
47 11.54 GNAS PRKACA PRKACB
48 11.54 GNAS PRKACA PRKACB
49 11.53 PRKACA PRKACB PRKAR1A
50 11.49 PRKACA PRKACB PRKAR1A

GO Terms for Primary Pigmented Nodular Adrenocortical Disease

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

id Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.65 CHGA CTNNB1 GNAS PRKACA PRKACB
2 neuromuscular junction GO:0031594 9.33 PRKACA PRKAR1A SYP
3 plasma membrane raft GO:0044853 9.32 PRKACA PRKAR1A
4 ciliary base GO:0097546 9.13 PRKACA PRKACB PRKAR1A
5 cAMP-dependent protein kinase complex GO:0005952 8.8 PRKACA PRKACB PRKAR1A

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.85 CTNNB1 ESR1 ESR2 GNAS NR3C1 PDE11A
2 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.69 CTNNB1 ESR1 ESR2
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.67 ESR1 ESR2 NR3C1 PGR
4 steroid hormone mediated signaling pathway GO:0043401 9.56 ESR1 ESR2 NR3C1 PGR
5 cAMP catabolic process GO:0006198 9.52 PDE11A PDE8B
6 activation of protein kinase A activity GO:0034199 9.5 PRKACA PRKACB PRKAR1A
7 regulation of osteoblast differentiation GO:0045667 9.49 CTNNB1 PRKACA
8 high-density lipoprotein particle assembly GO:0034380 9.48 PRKACA PRKACB
9 regulation of protein processing GO:0070613 9.46 PRKACA PRKACB
10 hair follicle placode formation GO:0060789 9.43 CTNNB1 GNAS
11 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.4 PRKACA PRKACB
12 cellular response to glucagon stimulus GO:0071377 9.26 GNAS PRKACA PRKACB PRKAR1A
13 renal water homeostasis GO:0003091 8.92 GNAS PRKACA PRKACB PRKAR1A

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.81 CTNNB1 ESR1 ESR2 PGR
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.78 CTNNB1 ESR1 NR3C1 PGR
3 lipid binding GO:0008289 9.73 ESR1 ESR2 NR3C1 PGR
4 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.49 PDE11A PDE8B
5 3,5-cyclic-AMP phosphodiesterase activity GO:0004115 9.46 PDE11A PDE8B
6 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.43 ESR1 ESR2 PGR
7 cAMP-dependent protein kinase activity GO:0004691 9.4 PRKACA PRKACB
8 estrogen receptor activity GO:0030284 9.37 ESR1 ESR2
9 estrogen response element binding GO:0034056 9.32 ESR1 ESR2
10 steroid hormone receptor activity GO:0003707 9.26 ESR1 ESR2 NR3C1 PGR
11 RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding GO:0038052 9.16 ESR1 ESR2
12 steroid binding GO:0005496 8.92 ESR1 ESR2 NR3C1 PGR

Sources for Primary Pigmented Nodular Adrenocortical Disease

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