MCID: PRM051
MIFTS: 56

Primary Pigmented Nodular Adrenocortical Disease

Categories: Rare diseases, Reproductive diseases, Endocrine diseases, Genetic 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 53 59 15
Ppnad 53 59
Pigmented Nodular Adrenocortical Disease, Primary, 2 44
Pigmented Nodular Adrenocortical Disease, Primary, 1 44
Primary Pigmented Nodular Adrenal Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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.

MalaCards based summary : Primary Pigmented Nodular Adrenocortical Disease, also known as ppnad, is related to adrenal gland hyperfunction and conn's syndrome. 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 Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and adrenal cortex, and related phenotypes are hypogonadism and diabetes mellitus

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

Wikipedia : 76 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 80)
# Related Disease Score Top Affiliating Genes
1 adrenal gland hyperfunction 30.9 NR3C1 POMC PRKAR1A
2 conn's syndrome 30.6 GNAS NR3C1 POMC PRKAR1A
3 carney complex variant 29.9 GNAS PDE11A PDE8B POMC PRKACB PRKAR1A
4 pigmented nodular adrenocortical disease, primary, 2 11.9
5 pigmented nodular adrenocortical disease, primary, 1 11.9
6 pigmented nodular adrenocortical disease, primary, 3 11.9
7 pigmented nodular adrenocortical disease, primary, 4 11.9
8 acth-independent macronodular adrenal hyperplasia 11.2
9 hormone producing pituitary cancer 10.7 GNAS PRKAR1A
10 sella turcica neoplasm 10.7 POMC SYP
11 pseudopseudohypoparathyroidism 10.6 GNAS PRKAR1A
12 tuberculum sellae meningioma 10.6 POMC SYP
13 esophageal neuroendocrine tumor 10.6 CHGA SYP
14 ureter small cell carcinoma 10.6 CHGA SYP
15 urinary bladder small cell neuroendocrine carcinoma 10.6 CHGA SYP
16 ovarian large-cell neuroendocrine carcinoma 10.6 CHGA SYP
17 auditory system cancer 10.6 CHGA SYP
18 adenoma of the pancreas 10.6 CHGA SYP
19 acinar cell cystadenocarcinoma 10.6 CHGA SYP
20 peritoneal serous adenocarcinoma 10.6 CHGA SYP
21 cellular ependymoma 10.6 CHGA SYP
22 gallbladder small cell carcinoma 10.6 CHGA SYP
23 primary hepatic neuroendocrine carcinoma 10.6 CHGA SYP
24 small cell carcinoma of the bladder 10.5 CHGA SYP
25 gastrointestinal neuroendocrine tumor 10.5 CHGA SYP
26 pulmonary large cell neuroendocrine carcinoma 10.5 CHGA SYP
27 atypical follicular adenoma 10.5 CHGA SYP
28 adrenal cortical adenoma 10.5 POMC PRKAR1A SYP
29 chordoid meningioma 10.5 CHGA SYP
30 olfactory nerve neoplasm 10.5 CHGA SYP
31 cauda equina neoplasm 10.5 CHGA SYP
32 pituitary carcinoma 10.5 CHGA POMC
33 pancreatic serous cystadenoma 10.5 CHGA SYP
34 acrodysostosis 10.5 GNAS PRKAR1A
35 conventional angiosarcoma 10.5 CHGA SYP
36 acute thyroiditis 10.4 CHGA POMC
37 nodular ganglioneuroblastoma 10.4 CHGA SYP
38 goblet cell carcinoid 10.4 CHGA CTNNB1
39 ectopic cushing syndrome 10.4 POMC SSTR1 SYP
40 testotoxicosis 10.3 CYP19A1 GNAS
41 pineocytoma 10.3 CHGA SYP
42 aromatase excess syndrome 10.3 CYP19A1 POMC
43 central nervous system organ benign neoplasm 10.3 CTNNB1 POMC SYP
44 nelson syndrome 10.3 NR3C1 POMC
45 adenoma 10.3
46 organ system benign neoplasm 10.3 CTNNB1 POMC SYP
47 acromegaly 10.3 GNAS POMC SSTR1
48 respiratory system benign neoplasm 10.3 CHGA SYP
49 cervix small cell carcinoma 10.3 CHGA POMC SYP
50 adrenal gland disease 10.2 NR3C1 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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
2 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
3 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
4 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
5 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
6 striae distensae 59 32 frequent (33%) Frequent (79-30%) HP:0001065
7 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
8 slender build 59 32 frequent (33%) Frequent (79-30%) HP:0001533
9 pigmented micronodular adrenocortical disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0001580
10 increased susceptibility to fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002659
11 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
12 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
13 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
14 adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008221
15 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.61 CHGA CTNNB1 ESR1 GNAS PDE8B POMC
2 Reduced mammosphere formation GR00396-S 9.17 BAD CHGA GNAS NR3C1 POMC PRKACA

MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 CTNNB1 CYP19A1 ESR1 GNAS NR3C1 PDE11A
2 homeostasis/metabolism MP:0005376 10.26 BAD CHGA CTNNB1 CYP19A1 ESR1 GNAS
3 endocrine/exocrine gland MP:0005379 10.21 POMC PRKACA PRKAR1A BAD CHGA CTNNB1
4 cardiovascular system MP:0005385 10.19 CHGA CTNNB1 CYP19A1 ESR1 GNAS NR3C1
5 growth/size/body region MP:0005378 10.19 BAD CHGA CTNNB1 CYP19A1 ESR1 GNAS
6 cellular MP:0005384 10.18 BAD CTNNB1 CYP19A1 ESR1 GNAS NR3C1
7 nervous system MP:0003631 10.15 BAD CTNNB1 CYP19A1 ESR1 GNAS NR3C1
8 adipose tissue MP:0005375 10.1 GNAS NR3C1 POMC PRKACA PRKAR1A CYP19A1
9 integument MP:0010771 10 CTNNB1 CYP19A1 GNAS NR3C1 POMC PRKAR1A
10 liver/biliary system MP:0005370 9.98 CTNNB1 CYP19A1 ESR1 GNAS NR3C1 POMC
11 neoplasm MP:0002006 9.95 BAD CTNNB1 ESR1 GNAS POMC PRKACA
12 renal/urinary system MP:0005367 9.81 CHGA CTNNB1 CYP19A1 ESR1 GNAS NR3C1
13 no phenotypic analysis MP:0003012 9.8 CHGA CTNNB1 ESR1 GNAS NR3C1 POMC
14 normal MP:0002873 9.8 CTNNB1 CYP19A1 ESR1 GNAS NR3C1 PRKAR1A
15 reproductive system MP:0005389 9.56 BAD CHGA CTNNB1 CYP19A1 ESR1 NR3C1
16 skeleton MP:0005390 9.23 CTNNB1 CYP19A1 ESR1 GNAS NR3C1 PRKACA

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 329-65-7 838
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:

41
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 64)
# Title Authors Year
1
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series. ( 29909407 )
2018
2
Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. ( 29094256 )
2018
3
A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease. ( 28878664 )
2017
4
Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy. ( 28391254 )
2017
5
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
6
Use of 3-Dimensional Volumetric Modeling of Adrenal Gland Size in Patients with Primary Pigmented Nodular Adrenocortical Disease. ( 27065461 )
2016
7
Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD). ( 26390100 )
2015
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
Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings. ( 24805858 )
2014
10
A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease. ( 24978147 )
2014
11
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
12
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
13
Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. ( 23065993 )
2013
14
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
15
Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl. ( 21648292 )
2011
16
Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected. ( 20924687 )
2011
17
Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease--case presentation. ( 21932601 )
2011
18
A case of subclinical Cushing syndrome due to primary pigmented nodular adrenocortical disease associated with adrenocortical adenoma. ( 21442380 )
2011
19
Primary pigmented nodular adrenocortical disease. ( 22121318 )
2011
20
Primary pigmented nodular adrenocortical disease. ( 21717412 )
2011
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
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. ( 20190548 )
2010
24
Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report. ( 20670433 )
2010
25
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. ( 19833579 )
2010
26
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review. ( 20099223 )
2010
27
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
28
MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling. ( 19351815 )
2009
29
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). ( 18419788 )
2008
30
Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. ( 18491255 )
2008
31
Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease. ( 18508999 )
2008
32
Primary pigmented nodular adrenocortical disease with synaptophysin immunoreactivity in two thai children. ( 17624220 )
2007
33
Primary pigmented nodular adrenocortical disease and Cushing's syndrome. ( 18209861 )
2007
34
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
35
Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A. ( 17280861 )
2007
36
PRKAR1A mutations in primary pigmented nodular adrenocortical disease. ( 17036196 )
2006
37
Primary pigmented nodular adrenocortical disease: report of 5 cases. ( 16701022 )
2006
38
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. ( 17322955 )
2006
39
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. ( 16464939 )
2006
40
Bilateral adrenal Cushing's syndrome: macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease. ( 15850852 )
2005
41
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? ( 15240590 )
2004
42
Clinical and molecular genetics of primary pigmented nodular adrenocortical disease. ( 15761532 )
2004
43
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
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
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. ( 12213893 )
2002
47
Synaptophysin immunoreactivity in primary pigmented nodular adrenocortical disease: neuroendocrine properties of tumors associated with Carney complex. ( 10084605 )
1999
48
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. ( 10523219 )
1999
49
Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy. ( 9100606 )
1997
50
Relapse of Cushing's syndrome following the treatment of primary pigmented nodular adrenocortical disease by unilateral adrenalectomy. ( 8811225 )
1996

Variations for Primary Pigmented Nodular Adrenocortical Disease

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 79)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.08 BAD CTNNB1 ESR1 GNAS NR3C1 PDE11A
2
Show member pathways
13.23 BAD CTNNB1 ESR1 GNAS PRKACA PRKACB
3
Show member pathways
13.08 GNAS PDE8B POMC PRKACA PRKACB PRKAR1A
4
Show member pathways
13.03 BAD GNAS PRKACA PRKACB PRKAR1A
5
Show member pathways
13 CTNNB1 GNAS POMC PRKACA PRKACB PRKAR1A
6
Show member pathways
12.96 BAD CTNNB1 GNAS PRKACA PRKACB
7
Show member pathways
12.93 CTNNB1 GNAS PDE11A PDE8B POMC PRKACA
8
Show member pathways
12.85 BAD GNAS PRKACA PRKACB PRKAR1A
9
Show member pathways
12.79 BAD GNAS PRKACA PRKACB PRKAR1A
10 12.79 BAD CTNNB1 ESR1 GNAS PRKACA PRKACB
11
Show member pathways
12.76 BAD ESR1 GNAS PRKACA PRKACB
12
Show member pathways
12.75 BAD CTNNB1 GNAS PRKACA PRKACB PRKAR1A
13
Show member pathways
12.72 BAD CTNNB1 GNAS PRKACA PRKACB
14
Show member pathways
12.64 GNAS PRKACA PRKACB PRKAR1A
15
Show member pathways
12.64 GNAS PRKACA PRKACB PRKAR1A
16
Show member pathways
12.58 GNAS PRKACA PRKACB PRKAR1A
17 12.55 POMC PRKACA PRKAR1A SSTR1 SYP
18
Show member pathways
12.53 BAD GNAS PRKACA PRKACB PRKAR1A
19
Show member pathways
12.52 GNAS PRKACA PRKACB PRKAR1A
20
Show member pathways
12.52 GNAS PDE11A PDE8B PRKACA PRKACB
21
Show member pathways
12.51 CTNNB1 NR3C1 PRKACA PRKAR1A
22
Show member pathways
12.5 BAD PRKACA PRKACB PRKAR1A
23
Show member pathways
12.5 GNAS POMC PRKACA PRKACB PRKAR1A
24
Show member pathways
12.48 BAD PRKACA PRKACB PRKAR1A
25
Show member pathways
12.43 GNAS PRKACA PRKACB PRKAR1A
26
Show member pathways
12.37 GNAS PRKACA PRKACB PRKAR1A
27
Show member pathways
12.37 GNAS PRKACA PRKACB PRKAR1A
28 12.36 GNAS PRKACA PRKACB PRKAR1A
29
Show member pathways
12.32 CTNNB1 PRKACA PRKACB PRKAR1A
30 12.29 CTNNB1 ESR1 PRKACA PRKACB
31
Show member pathways
12.27 ESR1 GNAS PRKACA PRKACB PRKAR1A
32
Show member pathways
12.24 BAD GNAS PRKACA PRKACB SSTR1
33
Show member pathways
12.21 GNAS PRKACA PRKACB PRKAR1A
34
Show member pathways
12.17 GNAS PRKACA PRKACB PRKAR1A
35 12.13 BAD CTNNB1 CYP19A1 ESR1
36 12.13 CTNNB1 GNAS PRKACA PRKACB PRKAR1A
37
Show member pathways
12.1 CTNNB1 PRKACA PRKACB
38 12.1 GNAS PDE11A PDE8B POMC
39 12.03 BAD PRKACA PRKACB
40 12.02 PRKACA PRKAR1A SSTR1
41 12.01 GNAS PRKACA PRKACB
42
Show member pathways
11.99 GNAS PRKACA PRKACB
43 11.97 GNAS PRKACA PRKACB
44 11.94 GNAS PRKACA PRKACB
45 11.92 GNAS PRKACA PRKACB
46 11.88 GNAS PRKACA PRKACB
47 11.87 CTNNB1 GNAS POMC
48 11.84 GNAS PRKACA PRKACB
49
Show member pathways
11.83 GNAS PRKACA PRKACB PRKAR1A
50 11.83 BAD CTNNB1 ESR1 PRKACA PRKACB

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 9.65 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 12)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 CTNNB1 ESR1 GNAS NR3C1 PDE11A PDE8B
2 response to estradiol GO:0032355 9.63 BAD CTNNB1 ESR1
3 androgen metabolic process GO:0008209 9.51 CYP19A1 ESR1
4 uterus development GO:0060065 9.49 CYP19A1 ESR1
5 regulation of osteoblast differentiation GO:0045667 9.48 CTNNB1 PRKACA
6 high-density lipoprotein particle assembly GO:0034380 9.43 PRKACA PRKACB
7 regulation of protein processing GO:0070613 9.4 PRKACA PRKACB
8 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.37 PRKACA PRKACB
9 activation of protein kinase A activity GO:0034199 9.33 PRKACA PRKACB PRKAR1A
10 hair follicle placode formation GO:0060789 9.32 CTNNB1 GNAS
11 cellular response to glucagon stimulus GO:0071377 9.26 GNAS PRKACA PRKACB PRKAR1A
12 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:

# Name GO ID Score Top Affiliating Genes
1 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.26 PDE11A PDE8B
2 3,5-cyclic-AMP phosphodiesterase activity GO:0004115 9.16 PDE11A PDE8B
3 protein kinase binding GO:0019901 9.02 BAD CTNNB1 ESR1 NR3C1 PRKACA
4 cAMP-dependent protein kinase activity GO:0004691 8.96 PRKACA PRKACB

Sources for Primary Pigmented Nodular Adrenocortical Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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