MCID: PRM051
MIFTS: 57

Primary Pigmented Nodular Adrenocortical Disease

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare 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 54 60 30 15
Ppnad 54 60
Pigmented Nodular Adrenocortical Disease, Primary, 2 45
Pigmented Nodular Adrenocortical Disease, Primary, 1 45
Primary Pigmented Nodular Adrenal Dysplasia 60

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 cortical adenoma and carney complex variant. 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 Integrin Pathway. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, pituitary and cortex, and related phenotypes are pigmented micronodular adrenocortical disease and adrenal hyperplasia

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

Wikipedia : 77 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 115)
# Related Disease Score Top Affiliating Genes
1 adrenal cortical adenoma 30.9 POMC PRKAR1A SYP
2 carney complex variant 30.8 GNAS PDE11A PDE8B PRKACB PRKAR1A
3 conn's syndrome 30.8 GNAS NR3C1 PDE11A POMC PRKAR1A
4 pigmented nodular adrenocortical disease, primary, 1 12.3
5 pigmented nodular adrenocortical disease, primary, 2 12.1
6 pigmented nodular adrenocortical disease, primary, 3 12.1
7 pigmented nodular adrenocortical disease, primary, 4 12.1
8 acth-independent macronodular adrenal hyperplasia 11.4
9 adenoma 10.4
10 hormone producing pituitary cancer 10.4 GNAS PRKAR1A
11 gangliocytoma 10.4 POMC SYP
12 pseudopseudohypoparathyroidism 10.3 GNAS PRKAR1A
13 ureter small cell carcinoma 10.3 CHGA SYP
14 sella turcica neoplasm 10.3 POMC SYP
15 tuberculum sellae meningioma 10.3 POMC SYP
16 urinary bladder small cell neuroendocrine carcinoma 10.3 CHGA SYP
17 auditory system cancer 10.3 CHGA SYP
18 acinar cell cystadenocarcinoma 10.3 CHGA SYP
19 peritoneal serous adenocarcinoma 10.3 CHGA SYP
20 cellular ependymoma 10.3 CHGA SYP
21 primary hepatic neuroendocrine carcinoma 10.3 CHGA SYP
22 small cell carcinoma of the bladder 10.3 CHGA SYP
23 gastrointestinal neuroendocrine tumor 10.3 CHGA SYP
24 pulmonary large cell neuroendocrine carcinoma 10.3 CHGA SYP
25 atypical follicular adenoma 10.3 CHGA SYP
26 chordoid meningioma 10.3 CHGA SYP
27 lung oat cell carcinoma 10.3 CHGA POMC
28 olfactory groove meningioma 10.3 CHGA SYP
29 cauda equina neoplasm 10.3 CHGA SYP
30 pituitary carcinoma 10.3 CHGA POMC
31 acute thyroiditis 10.3 CHGA POMC
32 autonomic nervous system benign neoplasm 10.3 CHGA SYP
33 lung combined type small cell carcinoma 10.3 NCAM1 SYP
34 mucinous adenofibroma 10.2 ESR1 SYP
35 acrodysostosis 10.2 GNAS PRKAR1A
36 cutaneous ganglioneuroma 10.2 NCAM1 SYP
37 extrahepatic bile duct adenocarcinoma 10.2 NCAM1 SYP
38 nodular ganglioneuroblastoma 10.2 CHGA SYP
39 goblet cell carcinoid 10.2 CHGA CTNNB1
40 orbital cancer 10.2 NCAM1 SYP
41 pituitary adenoma, prolactin-secreting 10.2 GNAS POMC PRKAR1A
42 postmenopausal atrophic vaginitis 10.2 ESR1 POMC
43 hypoganglionosis 10.2 NCAM1 SYP
44 endometrial small cell carcinoma 10.2 NCAM1 SYP
45 nelson syndrome 10.2 NR3C1 POMC
46 pineocytoma 10.2 CHGA SYP
47 supratentorial primitive neuroectodermal tumor 10.2 NCAM1 SYP
48 testotoxicosis 10.2 CYP19A1 GNAS
49 mediastinal cancer 10.2 NCAM1 SYP
50 olfactory nerve neoplasm 10.2 CHGA POMC 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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pigmented micronodular adrenocortical disease 60 33 hallmark (90%) Very frequent (99-80%) HP:0001580
2 adrenal hyperplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008221
3 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
4 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
5 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
6 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
7 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
8 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
9 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
10 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
11 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
12 striae distensae 60 33 frequent (33%) Frequent (79-30%) HP:0001065
13 slender build 60 33 frequent (33%) Frequent (79-30%) HP:0001533
14 increased susceptibility to fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002659
15 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.81 CHGA CTNNB1 ESR1 GNAS PDE8B POMC
2 Decreased cell migration GR00055-A-1 9.8 CTNNB1 NCAM1 PRKACA PRKACB PRKACG PRKAR1A
3 Decreased viability after gemcitabine stimulation GR00107-A-2 9.43 PRKACB PRKACG PRKAR1A
4 Increased cell death HMECs cells GR00103-A-0 9.35 CTNNB1 NR3C1 PRKACA PRKACB PRKACG
5 Reduced mammosphere formation GR00396-S 9.17 CHGA GNAS NCAM1 NR3C1 POMC PRKACA

MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.28 CTNNB1 CYP19A1 ESR1 GNAS NCAM1 NR3C1
2 homeostasis/metabolism MP:0005376 10.19 CHGA CTNNB1 CYP19A1 ESR1 GNAS NR3C1
3 cardiovascular system MP:0005385 10.18 CHGA CTNNB1 CYP19A1 ESR1 GNAS NR3C1
4 endocrine/exocrine gland MP:0005379 10.16 CHGA CTNNB1 CYP19A1 ESR1 GNAS NR3C1
5 mortality/aging MP:0010768 10.13 CHGA CTNNB1 ESR1 GNAS NCAM1 NR3C1
6 nervous system MP:0003631 10.1 CHGA CTNNB1 CYP19A1 ESR1 GNAS NCAM1
7 adipose tissue MP:0005375 10.09 CYP19A1 ESR1 GNAS NR3C1 POMC PRKACA
8 integument MP:0010771 10.02 CTNNB1 CYP19A1 ESR1 GNAS NR3C1 POMC
9 liver/biliary system MP:0005370 10 CTNNB1 CYP19A1 ESR1 GNAS NR3C1 POMC
10 muscle MP:0005369 9.95 CHGA CTNNB1 CYP19A1 ESR1 GNAS NR3C1
11 neoplasm MP:0002006 9.85 CTNNB1 ESR1 GNAS POMC PRKACA PRKAR1A
12 no phenotypic analysis MP:0003012 9.73 CHGA CTNNB1 ESR1 GNAS NR3C1 POMC
13 normal MP:0002873 9.7 CTNNB1 CYP19A1 ESR1 GNAS NR3C1 PRKAR1A
14 renal/urinary system MP:0005367 9.61 CHGA CTNNB1 CYP19A1 ESR1 GNAS NR3C1
15 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

Genetic tests related to Primary Pigmented Nodular Adrenocortical Disease:

# Genetic test Affiliating Genes
1 Primary Pigmented Nodular Adrenocortical Disease 30

Anatomical Context for Primary Pigmented Nodular Adrenocortical Disease

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

42
Adrenal Gland, Pituitary, Cortex, Skin, Adrenal Cortex, Testes, Skeletal Muscle

Publications for Primary Pigmented Nodular Adrenocortical Disease

Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50) (show all 70)
# Title Authors Year
1
Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. ( 30875328 )
2019
2
Primary pigmented nodular adrenocortical disease (PPNAD) as an underlying cause of symptoms in a patient presenting with hirsutism and secondary amenorrhea: case report and literature review. ( 30129786 )
2018
3
Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. ( 29094256 )
2018
4
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series. ( 29909407 )
2018
5
Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review. ( 30259502 )
2018
6
Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy. ( 28391254 )
2017
7
A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease. ( 28878664 )
2017
8
Use of 3-Dimensional Volumetric Modeling of Adrenal Gland Size in Patients with Primary Pigmented Nodular Adrenocortical Disease. ( 27065461 )
2016
9
A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease. ( 27580546 )
2016
10
Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD). ( 26390100 )
2015
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
Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings. ( 24805858 )
2014
13
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
14
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
15
A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease. ( 24978147 )
2014
16
Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. ( 23065993 )
2013
17
Black adrenal adenoma: distinction from PPNAD. ( 22761223 )
2012
18
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
19
Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected. ( 20924687 )
2011
20
A case of subclinical Cushing syndrome due to primary pigmented nodular adrenocortical disease associated with adrenocortical adenoma. ( 21442380 )
2011
21
Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl. ( 21648292 )
2011
22
Primary pigmented nodular adrenocortical disease. ( 21717412 )
2011
23
Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease--case presentation. ( 21932601 )
2011
24
Primary pigmented nodular adrenocortical disease. ( 22121318 )
2011
25
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. ( 19833579 )
2010
26
Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. ( 19915019 )
2010
27
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review. ( 20099223 )
2010
28
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. ( 20190548 )
2010
29
CT findings of primary pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome. ( 20489078 )
2010
30
Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report. ( 20670433 )
2010
31
MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling. ( 19351815 )
2009
32
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
33
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). ( 18419788 )
2008
34
Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. ( 18491255 )
2008
35
Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease. ( 18508999 )
2008
36
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
37
Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A. ( 17280861 )
2007
38
Primary pigmented nodular adrenocortical disease with synaptophysin immunoreactivity in two thai children. ( 17624220 )
2007
39
Primary pigmented nodular adrenocortical disease and Cushing's syndrome. ( 18209861 )
2007
40
Adrenocortical tumors, primary pigmented adrenocortical disease (PPNAD)/Carney complex, and other bilateral hyperplasias: the NIH studies. ( 17578766 )
2007
41
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. ( 16464939 )
2006
42
Primary pigmented nodular adrenocortical disease: report of 5 cases. ( 16701022 )
2006
43
PRKAR1A mutations in primary pigmented nodular adrenocortical disease. ( 17036196 )
2006
44
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. ( 17322955 )
2006
45
Bilateral adrenal Cushing's syndrome: macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease. ( 15850852 )
2005
46
A six month mitotane course induced sustained correction of hypercortisolism in a young woman with PPNAD and Carney complex. ( 15816372 )
2005
47
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? ( 15240590 )
2004
48
Clinical and molecular genetics of primary pigmented nodular adrenocortical disease. ( 15761532 )
2004
49
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
50
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. ( 12213893 )
2002

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 104)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.19 CTNNB1 ESR1 GNAS NCAM1 NR3C1 PDE11A
2
Show member pathways
13.4 CTNNB1 GNAS PRKACA PRKACB PRKACG PRKAR1A
3
Show member pathways
13.33 CTNNB1 ESR1 GNAS PRKACA PRKACB PRKACG
4
Show member pathways
13.32 GNAS PDE11A PRKACA PRKACB PRKACG PRKAR1A
5
Show member pathways
13.23 GNAS NR3C1 PRKACA PRKACB PRKACG PRKAR1A
6
Show member pathways
13.13 GNAS PDE8B POMC PRKACA PRKACB PRKACG
7
Show member pathways
13.07 CTNNB1 GNAS POMC PRKACA PRKACB PRKACG
8
Show member pathways
13.06 GNAS PRKACA PRKACB PRKACG PRKAR1A
9
Show member pathways
13.05 GNAS PRKACA PRKACB PRKACG PRKAR1A
10
Show member pathways
13.04 ESR1 GNAS PRKACA PRKACB PRKACG
11
Show member pathways
13.02 GNAS PDE8B POMC PRKACA PRKACB PRKACG
12
Show member pathways
13 CTNNB1 GNAS PRKACA PRKACB PRKACG
13
Show member pathways
12.97 CTNNB1 GNAS PRKACA PRKACB PRKACG
14
Show member pathways
12.94 CTNNB1 PRKACA PRKACB PRKACG PRKAR1A
15
Show member pathways
12.93 GNAS PRKACA PRKACB PRKACG PRKAR1A
16
Show member pathways
12.91 GNAS PRKACA PRKACB PRKACG PRKAR1A
17 12.9 CTNNB1 ESR1 GNAS PRKACA PRKACB PRKACG
18
Show member pathways
12.89 GNAS PRKACA PRKACB PRKACG PRKAR1A
19
Show member pathways
12.87 CTNNB1 GNAS PRKACA PRKACB PRKACG PRKAR1A
20
Show member pathways
12.79 CTNNB1 GNAS PRKACA PRKACB PRKACG
21
Show member pathways
12.74 ESR1 GNAS PRKACA PRKACB PRKACG
22
Show member pathways
12.73 CTNNB1 GNAS PRKACA PRKACB PRKACG
23
Show member pathways
12.73 GNAS PRKACA PRKACB PRKACG PRKAR1A
24
Show member pathways
12.72 GNAS PRKACA PRKACB PRKACG PRKAR1A
25
Show member pathways
12.7 PRKACA PRKACB PRKACG PRKAR1A
26
Show member pathways
12.66 GNAS PRKACA PRKACB PRKACG PRKAR1A
27 12.66 NCAM1 POMC PRKACA PRKAR1A SYP
28
Show member pathways
12.64 GNAS PRKACA PRKACB PRKACG PRKAR1A
29
Show member pathways
12.59 GNAS PDE11A PDE8B PRKACA PRKACB PRKACG
30
Show member pathways
12.56 GNAS POMC PRKACA PRKACB PRKACG PRKAR1A
31
Show member pathways
12.55 GNAS PRKACA PRKACB PRKAR1A
32
Show member pathways
12.55 CTNNB1 NR3C1 PRKACA PRKAR1A
33
Show member pathways
12.52 PRKACA PRKACB PRKACG PRKAR1A
34
Show member pathways
12.51 GNAS PRKACA PRKACB PRKACG PRKAR1A
35
Show member pathways
12.5 GNAS PRKACA PRKACB PRKACG
36
Show member pathways
12.45 GNAS PRKACA PRKACB PRKACG PRKAR1A
37
Show member pathways
12.44 GNAS PRKACA PRKACB PRKACG PRKAR1A
38 12.43 GNAS PRKACA PRKACB PRKACG PRKAR1A
39 12.39 CTNNB1 PRKACA PRKACB PRKACG
40
Show member pathways
12.39 CTNNB1 PRKACA PRKACB PRKACG PRKAR1A
41 12.38 GNAS PRKACA PRKACB PRKACG
42 12.36 CTNNB1 ESR1 PRKACA PRKACB PRKACG
43
Show member pathways
12.33 GNAS PRKACA PRKACB PRKACG
44
Show member pathways
12.32 CTNNB1 PRKACA PRKACB PRKACG
45
Show member pathways
12.3 ESR1 GNAS PRKACA PRKACB PRKACG PRKAR1A
46
Show member pathways
12.29 GNAS PRKACA PRKACB PRKACG
47
Show member pathways
12.29 CTNNB1 GNAS PRKACA PRKACB PRKACG PRKAR1A
48
Show member pathways
12.27 GNAS PRKACA PRKACB PRKACG PRKAR1A
49
Show member pathways
12.26 GNAS PRKACA PRKACB PRKACG
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 9.77 CHGA CTNNB1 GNAS PRKACA PRKACB
2 neuromuscular junction GO:0031594 9.5 PRKACA PRKAR1A SYP
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 CTNNB1 ESR1 GNAS NCAM1 NR3C1 PDE11A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.67 PRKACA PRKACB PRKACG PRKAR1A
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.61 PRKACA PRKACB PRKACG
3 uterus development GO:0060065 9.52 CYP19A1 ESR1
4 androgen metabolic process GO:0008209 9.51 CYP19A1 ESR1
5 regulation of osteoblast differentiation GO:0045667 9.48 CTNNB1 PRKACA
6 regulation of protein processing GO:0070613 9.46 PRKACA PRKACB
7 activation of protein kinase A activity GO:0034199 9.46 PRKACA PRKACB PRKACG PRKAR1A
8 high-density lipoprotein particle assembly GO:0034380 9.43 PRKACA PRKACB PRKACG
9 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.4 PRKACA PRKACB
10 renal water homeostasis GO:0003091 9.35 GNAS PRKACA PRKACB PRKACG PRKAR1A
11 hair follicle placode formation GO:0060789 9.32 CTNNB1 GNAS
12 cellular response to glucagon stimulus GO:0071377 9.02 GNAS PRKACA PRKACB PRKACG PRKAR1A
13 signal transduction GO:0007165 10.04 ESR1 GNAS NR3C1 PDE11A PDE8B 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-GMP phosphodiesterase activity GO:0047555 9.26 PDE11A PRKAR1A
2 protein kinase A regulatory subunit binding GO:0034237 9.16 PRKACA PRKACB
3 cAMP-dependent protein kinase activity GO:0004691 8.8 PRKACA PRKACB PRKACG
4 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 8.65 PDE8B

Sources for Primary Pigmented Nodular Adrenocortical Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....