MCID: PRM051
MIFTS: 56

Primary Pigmented Nodular Adrenocortical Disease

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

Aliases & Classifications for Primary Pigmented Nodular Adrenocortical Disease

MalaCards integrated aliases for Primary Pigmented Nodular Adrenocortical Disease:

Name: Primary Pigmented Nodular Adrenocortical Disease 12 49 55 14
Ppnad 49 55
Pigmented Nodular Adrenocortical Disease, Primary, 2 41
Pigmented Nodular Adrenocortical Disease, Primary, 1 41
Primary Pigmented Nodular Adrenal Dysplasia 55

Characteristics:

Orphanet epidemiological data:

55
primary pigmented nodular adrenocortical disease
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

Classifications:



Summaries for Primary Pigmented Nodular Adrenocortical Disease

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 189439Disease definitionPrimary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).EpidemiologyThe prevalence of endogenous Cushing syndrome (CS; see this term) is estimated at 1/26,000. PPNAD is responsible for less than 2% of cases. PPNAD is more frequent in females, especially after puberty.Clinical descriptionAlthough the majority of cases are diagnosed in the 2nd and 3rd decades of life, a substantial proportion of patients present during early childhood (2-3 years). Patients with PPNAD often present with atypical CS, which is characterized by an asthenic, rather than obese, body habitus caused by severe osteoporosis, short stature and severe muscle and skin wasting. Patients with atypical CS have normal or near normal 24-hour urinary free cortisol production, but this is characterized by the absence of the normal circadian rhythmicity of cortisol. In adolescents and children with PPNAD, the disease frequently presents with periodic CS in which normal cortisol production is interrupted by days or weeks of hypercortisolism.EtiologyMore than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex (CNC; see this term). Although rare, familial cases of isolated PPNAD have also been reported. The condition is inherited in an autosomal dominant manner and can be associated with mutations in the PRKAR1A, PDE11A and PDE8B genes.Diagnostic methodsDiagnosis is first based on confirmation of hypercortisolism (24hr urinary free cortisol, late night salivary cortisol, low-dose and high-dose dexamethasone-suppression test and assessment of midnight plasma cortisol). The second step is plasma ACTH detection to distinguish ACTH-independent CS (values lower than 5-10 pg/ml) from ACTH-dependent CS (see these terms). In some cases, nodules are visible on adrenal gland computed tomography (CT) or magnetic resonance imaging (MRI). The combination of atrophy and nodularity gives the glands an irregular contour, which is distinctly abnormal and diagnostic, especially in younger patients. Patients with PPNAD should also be screened for CNC and its potentially serious components.Differential diagnosisDifferential diagnoses are ACTH-dependent CS, including pituitary (Cushing disease) or extra-pituitary tumors (ectopic ACTH secretion) and the other causes of ACTH-independent CS including adrenal adenoma and carcinoma (see these terms).Genetic counselingGenetic testing for mutations of PRKAR1A, PDE11A and PDE8B genes may be discussed to detect affected patients in families with identified mutations. Genetic counseling may be offered in families with these mutations.Management and treatmentBilateral adrenalectomy is the most common treatment for CS due to PPNAD followed by life-long cortisol and mineralocorticoid supplementation.PrognosisWithout treatment, CS due to PPNAD can be life-threatening.Visit the Orphanet disease page for more resources. Last updated: 9/1/2012

MalaCards based summary : Primary Pigmented Nodular Adrenocortical Disease, also known as ppnad, is related to carney complex variant and pigmented nodular adrenocortical disease, primary, 2, and has symptoms including hypogonadism, diabetes mellitus and hypertension. 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 Activation of cAMP-Dependent PKA. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and adrenal cortex, and related phenotypes are Decreased cell migration and Decreased viability in esophageal squamous lineage

Disease Ontology : 12 An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.

Wikipedia : 72 Primary pigmented nodular adrenocortical disease (PPNAD) was first coined in 1984 by Carney et al. it... more...

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, 1
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 Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 carney complex variant 30.2 GNAS PDE11A PDE8B POMC PRKACB PRKAR1A
2 pigmented nodular adrenocortical disease, primary, 2 11.9
3 pigmented nodular adrenocortical disease, primary, 1 11.9
4 pigmented nodular adrenocortical disease, primary, 3 11.9
5 pigmented nodular adrenocortical disease, primary, 4 11.9
6 acth-independent macronodular adrenal hyperplasia 11.2
7 conn's syndrome 10.5
8 hormone producing pituitary cancer 10.4 GNAS PRKAR1A
9 pseudopseudohypoparathyroidism 10.4 GNAS PRKAR1A
10 ureter small cell carcinoma 10.4 CHGA SYP
11 urinary bladder small cell neuroendocrine carcinoma 10.4 CHGA SYP
12 auditory system cancer 10.3 CHGA SYP
13 adenoma of the pancreas 10.3 CHGA SYP
14 acinar cell cystadenocarcinoma 10.3 CHGA SYP
15 adrenal cortex disease 10.3 PDE11A POMC PRKAR1A
16 adrenal gland disease 10.3 PDE11A POMC PRKAR1A
17 peritoneal serous adenocarcinoma 10.3 CHGA SYP
18 cellular ependymoma 10.3 CHGA SYP
19 primary hepatic neuroendocrine carcinoma 10.3 CHGA SYP
20 small cell carcinoma of the bladder 10.3 CHGA SYP
21 gastrointestinal neuroendocrine tumor 10.3 CHGA SYP
22 adrenal cortical adenoma 10.3 POMC PRKAR1A SYP
23 lung combined type small cell carcinoma 10.3 NCAM1 SYP
24 adenoma 10.3
25 cutaneous ganglioneuroma 10.3 NCAM1 SYP
26 pulmonary large cell neuroendocrine carcinoma 10.3 CHGA SYP
27 atypical follicular adenoma 10.3 CHGA SYP
28 chordoid meningioma 10.3 CHGA SYP
29 extrahepatic bile duct adenocarcinoma 10.3 NCAM1 SYP
30 orbital cancer 10.3 NCAM1 SYP
31 pancreatic endocrine carcinoma 10.2 NCAM1 SYP
32 olfactory nerve neoplasm 10.2 CHGA SYP
33 acute thyroiditis 10.2 CHGA POMC
34 cauda equina neoplasm 10.2 CHGA SYP
35 hypoganglionosis 10.2 NCAM1 SYP
36 ectopic cushing syndrome 10.2 POMC SSTR1 SYP
37 central nervous system organ benign neoplasm 10.2 CTNNB1 POMC SYP
38 cushing syndrome, familial 10.2
39 goblet cell carcinoid 10.2 CHGA CTNNB1
40 female reproductive endometrioid cancer 10.2 CTNNB1 PGR
41 supratentorial primitive neuroectodermal tumor 10.2 NCAM1 SYP
42 acromegaly 10.2 GNAS POMC SSTR1
43 endometrial small cell carcinoma 10.2 NCAM1 SYP
44 pituitary carcinoma 10.1 CHGA GNAS POMC
45 mediastinal cancer 10.1 NCAM1 SYP
46 sella turcica neoplasm 10.1 PGR POMC SYP
47 lung meningioma 10.1 NCAM1 PGR
48 tuberculum sellae meningioma 10.1 PGR POMC SYP
49 olfactory groove meningioma 10.1 CHGA PGR
50 pineocytoma 10.1 CHGA SYP

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:

55 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadism 55 31 frequent (33%) Frequent (79-30%) HP:0000135
2 diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0000819
3 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
4 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
5 thin skin 55 31 frequent (33%) Frequent (79-30%) HP:0000963
6 striae distensae 55 31 frequent (33%) Frequent (79-30%) HP:0001065
7 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
8 slender build 55 31 frequent (33%) Frequent (79-30%) HP:0001533
9 pigmented micronodular adrenocortical disease 55 31 hallmark (90%) Very frequent (99-80%) HP:0001580
10 increased susceptibility to fractures 55 31 frequent (33%) Frequent (79-30%) HP:0002659
11 myopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003198
12 skeletal muscle atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003202
13 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
14 adrenal hyperplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008221
15 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.73 PRKACG PRKAR1A CTNNB1 NCAM1 PRKACA PRKACB
2 Decreased viability in esophageal squamous lineage GR00235-A 9.65 PRKACG PRKAR1A SSTR1 CHGA CTNNB1 GNAS
3 Decreased viability after gemcitabine stimulation GR00107-A-2 9.33 PRKACG PRKAR1A PRKACB
4 Increased cell death HMECs cells GR00103-A-0 9.02 PRKACB PRKACG CTNNB1 PGR PRKACA

MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 POMC CTNNB1 PRKACB GNAS PRKAR1A SSTR1
2 homeostasis/metabolism MP:0005376 9.96 BAD POMC CHGA PRKACA CTNNB1 PRKAR1A
3 endocrine/exocrine gland MP:0005379 9.92 BAD POMC CHGA PRKACA CTNNB1 PRKAR1A
4 neoplasm MP:0002006 9.7 POMC PRKACA CTNNB1 GNAS PRKAR1A PGR
5 nervous system MP:0003631 9.65 BAD POMC PRKACA CTNNB1 PRKACB GNAS
6 renal/urinary system MP:0005367 9.1 POMC CHGA PRKACA CTNNB1 GNAS PDE8B

Drugs & Therapeutics for Primary Pigmented Nodular Adrenocortical Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2 Racepinephrine Approved 329-65-7
3 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
2 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:

38
Adrenal Gland, Skin, Adrenal Cortex, Cortex, Pituitary, Testes, Skeletal Muscle

Publications for Primary Pigmented Nodular Adrenocortical Disease

Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50) (show all 62)
# Title Authors Year
1
Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. ( 29094256 )
2018
2
Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy. ( 28391254 )
2017
3
A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease. ( 28878664 )
2017
4
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
5
Use of 3-Dimensional Volumetric Modeling of Adrenal Gland Size in Patients with Primary Pigmented Nodular Adrenocortical Disease. ( 27065461 )
2016
6
Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD). ( 26390100 )
2015
7
A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease. ( 24978147 )
2014
8
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
9
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
10
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
11
Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings. ( 24805858 )
2014
12
Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. ( 23065993 )
2013
13
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
14
Primary pigmented nodular adrenocortical disease. ( 22121318 )
2011
15
Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl. ( 21648292 )
2011
16
Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease--case presentation. ( 21932601 )
2011
17
A case of subclinical Cushing syndrome due to primary pigmented nodular adrenocortical disease associated with adrenocortical adenoma. ( 21442380 )
2011
18
Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected. ( 20924687 )
2011
19
Primary pigmented nodular adrenocortical disease. ( 21717412 )
2011
20
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review. ( 20099223 )
2010
21
Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. ( 19915019 )
2010
22
CT findings of primary pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome. ( 20489078 )
2010
23
Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report. ( 20670433 )
2010
24
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. ( 20190548 )
2010
25
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. ( 19833579 )
2010
26
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
27
MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling. ( 19351815 )
2009
28
Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. ( 18491255 )
2008
29
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). ( 18419788 )
2008
30
Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease. ( 18508999 )
2008
31
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
32
Primary pigmented nodular adrenocortical disease with synaptophysin immunoreactivity in two thai children. ( 17624220 )
2007
33
Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A. ( 17280861 )
2007
34
Primary pigmented nodular adrenocortical disease and Cushing's syndrome. ( 18209861 )
2007
35
PRKAR1A mutations in primary pigmented nodular adrenocortical disease. ( 17036196 )
2006
36
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. ( 17322955 )
2006
37
Primary pigmented nodular adrenocortical disease: report of 5 cases. ( 16701022 )
2006
38
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. ( 16464939 )
2006
39
Bilateral adrenal Cushing's syndrome: macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease. ( 15850852 )
2005
40
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? ( 15240590 )
2004
41
Clinical and molecular genetics of primary pigmented nodular adrenocortical disease. ( 15761532 )
2004
42
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
43
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. ( 12213893 )
2002
44
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
45
Carney complex, a familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: a case report. ( 12670039 )
2002
46
Synaptophysin immunoreactivity in primary pigmented nodular adrenocortical disease: neuroendocrine properties of tumors associated with Carney complex. ( 10084605 )
1999
47
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. ( 10523219 )
1999
48
Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy. ( 9100606 )
1997
49
Relapse of Cushing's syndrome following the treatment of primary pigmented nodular adrenocortical disease by unilateral adrenalectomy. ( 8811225 )
1996
50
Cushing's syndrome due to primary pigmented nodular adrenocortical disease--a case report reviews of the literature. ( 7626560 )
1995

Variations for Primary Pigmented Nodular Adrenocortical Disease

ClinVar genetic disease variations for Primary Pigmented Nodular Adrenocortical Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_002734.4(PRKAR1A): c.-7+1G> A single nucleotide variant Pathogenic rs587776773 GRCh37 Chromosome 17, 66508690: 66508690
2 PRKAR1A PRKAR1A, 16-BP DEL deletion Pathogenic
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 102)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.17 BAD CTNNB1 GNAS NCAM1 PDE11A PDE8B
2
Show member pathways
13.57 BAD CTNNB1 GNAS PRKACA PRKACB PRKACG
3
Show member pathways
13.33 GNAS PDE11A PRKACA PRKACB PRKACG PRKAR1A
4
Show member pathways
13.33 BAD CTNNB1 GNAS PRKACA PRKACB PRKACG
5
Show member pathways
13.23 BAD GNAS PRKACA PRKACB PRKACG PRKAR1A
6
Show member pathways
13.16 GNAS PDE8B POMC PRKACA PRKACB PRKACG
7
Show member pathways
13.11 BAD GNAS PRKACA PRKACB PRKACG PRKAR1A
8
Show member pathways
13.09 CTNNB1 GNAS POMC PRKACA PRKACB PRKACG
9
Show member pathways
13.06 GNAS PRKACA PRKACB PRKACG PRKAR1A
10
Show member pathways
13.04 BAD CTNNB1 GNAS PRKACA PRKACB PRKACG
11
Show member pathways
12.95 CTNNB1 PRKACA PRKACB PRKACG PRKAR1A
12
Show member pathways
12.94 BAD PRKACA PRKACB PRKACG PRKAR1A
13 12.92 BAD CTNNB1 GNAS PRKACA PRKACB PRKACG
14
Show member pathways
12.91 GNAS PRKACA PRKACB PRKACG PRKAR1A
15
Show member pathways
12.85 GNAS PDE8B POMC PRKACA PRKACB PRKACG
16
Show member pathways
12.8 BAD CTNNB1 GNAS PRKACA PRKACB PRKACG
17
Show member pathways
12.79 BAD GNAS PRKACA PRKACB PRKACG
18
Show member pathways
12.78 BAD GNAS PRKACA PRKACB PRKACG PRKAR1A
19
Show member pathways
12.78 BAD CTNNB1 GNAS PRKACA PRKACB PRKACG
20
Show member pathways
12.74 GNAS PRKACA PRKACB PRKACG PRKAR1A
21
Show member pathways
12.73 CTNNB1 GNAS PRKACA PRKACB PRKACG
22
Show member pathways
12.73 GNAS PRKACA PRKACB PRKACG PRKAR1A
23
Show member pathways
12.68 BAD PRKACA PRKACB PRKACG PRKAR1A
24
Show member pathways
12.67 GNAS PRKACA PRKACB PRKACG PRKAR1A
25
Show member pathways
12.65 BAD GNAS PRKACA PRKACB PRKACG
26 12.64 NCAM1 POMC PRKACA PRKAR1A SSTR1 SYP
27
Show member pathways
12.62 BAD GNAS PRKACA PRKACB PRKACG PRKAR1A
28
Show member pathways
12.6 GNAS PDE11A PDE8B PRKACA PRKACB PRKACG
29
Show member pathways
12.58 CTNNB1 PRKACA PRKACB PRKACG
30
Show member pathways
12.58 BAD PRKACA PRKACB PRKACG PRKAR1A
31
Show member pathways
12.57 GNAS POMC PRKACA PRKACB PRKACG PRKAR1A
32
Show member pathways
12.56 GNAS PRKACA PRKACB PRKAR1A
33
Show member pathways
12.52 GNAS PRKACA PRKACB PRKACG PRKAR1A
34
Show member pathways
12.51 GNAS PRKACA PRKACB PRKACG
35
Show member pathways
12.49 PRKACA PRKACB PRKACG PRKAR1A
36 12.47 CTNNB1 PRKACA PRKACB PRKACG
37
Show member pathways
12.46 GNAS PRKACA PRKACB PRKACG PRKAR1A
38
Show member pathways
12.45 GNAS PRKACA PRKACB PRKACG PRKAR1A
39 12.44 GNAS PRKACA PRKACB PRKACG PRKAR1A
40
Show member pathways
12.41 PGR PRKACA PRKACB PRKACG
41
Show member pathways
12.41 CTNNB1 PRKACA PRKACB PRKACG PRKAR1A
42
Show member pathways
12.4 GNAS PRKACA PRKACB PRKACG PRKAR1A
43 12.37 CTNNB1 PRKACA PRKACB PRKACG
44 12.36 BAD PRKACA PRKACB PRKACG
45
Show member pathways
12.32 GNAS PRKACA PRKACB PRKACG
46
Show member pathways
12.32 CTNNB1 GNAS POMC PRKACA PRKACB PRKACG
47
Show member pathways
12.29 GNAS PRKACA PRKACB PRKACG
48
Show member pathways
12.28 CTNNB1 GNAS PRKACA PRKACB PRKACG PRKAR1A
49
Show member pathways
12.28 GNAS PRKACA PRKACB PRKACG PRKAR1A
50
Show member pathways
12.26 GNAS PRKACA PRKACB PRKACG

GO Terms for Primary Pigmented Nodular Adrenocortical Disease

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

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.72 CHGA CTNNB1 GNAS PRKACA PRKACB
2 plasma membrane raft GO:0044853 9.37 PRKACA PRKAR1A
3 intercellular bridge GO:0045171 9.33 PRKACA PRKACB PRKACG
4 cAMP-dependent protein kinase complex GO:0005952 9.13 PRKACA PRKACB PRKAR1A
5 ciliary base GO:0097546 8.92 PRKACA PRKACB PRKACG PRKAR1A
6 cytosol GO:0005829 10 BAD CTNNB1 GNAS NCAM1 PDE11A PDE8B

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

# Name GO ID Score Top Affiliating Genes
1 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.63 PRKACA PRKACB PRKACG
2 blood coagulation GO:0007596 9.62 PRKACA PRKACB PRKACG PRKAR1A
3 activation of protein kinase A activity GO:0034199 9.46 PRKACA PRKACB PRKACG PRKAR1A
4 regulation of osteoblast differentiation GO:0045667 9.43 CTNNB1 PRKACA
5 high-density lipoprotein particle assembly GO:0034380 9.43 PRKACA PRKACB PRKACG
6 hair follicle placode formation GO:0060789 9.37 CTNNB1 GNAS
7 cellular response to glucagon stimulus GO:0071377 9.35 GNAS PRKACA PRKACB PRKACG PRKAR1A
8 renal water homeostasis GO:0003091 9.02 GNAS PRKACA PRKACB PRKACG PRKAR1A
9 signal transduction GO:0007165 10.01 CTNNB1 GNAS PDE11A PDE8B PGR POMC

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

# Name GO ID Score Top Affiliating Genes
1 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.16 PDE11A PDE8B
2 3,5-cyclic-AMP phosphodiesterase activity GO:0004115 8.96 PDE11A PDE8B
3 cAMP-dependent protein kinase activity GO:0004691 8.8 PRKACA PRKACB PRKACG

Sources for Primary Pigmented Nodular Adrenocortical Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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