PPNAD
MCID: PRM051
MIFTS: 54

Primary Pigmented Nodular Adrenocortical Disease (PPNAD)

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 52 58 29 15
Ppnad 52 58
Pigmented Nodular Adrenocortical Disease, Primary, 2 43
Pigmented Nodular Adrenocortical Disease, Primary, 1 43
Primary Pigmented Nodular Adrenal Dysplasia 58

Characteristics:

Orphanet epidemiological data:

58
primary pigmented nodular adrenocortical disease
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060280
ICD10 via Orphanet 33 E24.8
Orphanet 58 ORPHA189439
UMLS 71 C1864846 C1864851

Summaries for Primary Pigmented Nodular Adrenocortical Disease

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 189439 Definition Primary 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). Epidemiology The 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 description Although 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. Etiology More 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 methods Diagnosis 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 diagnosis Differential 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 counseling Genetic 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 treatment Bilateral adrenalectomy is the most common treatment for CS due to PPNAD followed by life-long cortisol and mineralocorticoid supplementation. Prognosis Without 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 carney complex variant and adenoma. 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 ERK Signaling. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, adrenal gland and breast, and related phenotypes are adrenal hyperplasia and pigmented micronodular adrenocortical disease

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

Wikipedia : 74 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 219)
# Related Disease Score Top Affiliating Genes
1 carney complex variant 32.9 PRKAR1A PRKACG PRKACB PRKACA POMC PDE8B
2 adenoma 31.3 PRKAR1A POMC GNAS CTNNB1 CHGA
3 conn's syndrome 31.3 PRKAR1A POMC PDE11A NR3C1 GNAS CNC2
4 acth-independent cushing syndrome 31.3 PRKAR1A PRKACA PDE8B PDE11A GNAS
5 adrenal adenoma 31.1 PRKAR1A POMC MIR483 GNAS
6 pituitary adenoma 31.0 PRKAR1A POMC GNAS CHGA
7 adrenocortical carcinoma, hereditary 31.0 PRKAR1A MIR483 GNAS CTNNB1
8 adrenal cortical adenoma 30.9 SYP PRKAR1A POMC MIR483 CTNNB1 CHGA
9 mccune-albright syndrome 30.6 PRKAR1A PDE8B PDE11A GNAS CYP19A1
10 adrenal cortical carcinoma 30.2 SYP PRKAR1A POMC MIR483 CTNNB1 CHGA
11 pituitary adenoma, prolactin-secreting 30.0 SSTR1 PRKAR1A POMC GNAS ESR2 ESR1
12 pigmented nodular adrenocortical disease, primary, 1 12.4
13 pigmented nodular adrenocortical disease, primary, 2 12.2
14 pigmented nodular adrenocortical disease, primary, 3 12.2
15 pigmented nodular adrenocortical disease, primary, 4 12.2
16 acth-independent macronodular adrenal hyperplasia 11.8
17 breast adenoma 10.6 PRKAR1A PDE8B PDE11A
18 primary hepatic neuroendocrine carcinoma 10.6 SYP CHGA
19 anal neuroendocrine tumor 10.6 SYP NCAM1
20 pancreas lymphoma 10.6 SYP CHGA
21 lung combined type small cell carcinoma 10.6 SYP NCAM1
22 small cell carcinoma of the bladder 10.6 SYP CHGA
23 acinar cell cystadenocarcinoma 10.6 SYP CHGA
24 vulvar eccrine porocarcinoma 10.6 SYP CHGA
25 gastrointestinal neuroendocrine benign tumor 10.6 SYP CHGA
26 appendix carcinoid tumor 10.6 SYP CHGA
27 auditory system cancer 10.6 SYP CHGA
28 mixed ductal-endocrine carcinoma 10.6 SYP CHGA
29 hypoganglionosis 10.6 SYP NCAM1
30 thymus small cell carcinoma 10.6 SYP CHGA
31 cauda equina neoplasm 10.6 SYP CHGA
32 duodenal benign neoplasm 10.6 SYP CHGA
33 mucinous adenofibroma 10.6 SYP ESR1
34 ampulla of vater neoplasm 10.6 SYP CHGA
35 cerebellopontine angle primitive neuroectodermal 10.6 SYP NCAM1
36 growth hormone secreting pituitary adenoma 10.5 PRKAR1A POMC GNAS
37 posterior pituitary gland neoplasm 10.5 SYP SSTR1
38 middle ear adenoma 10.5 SYP CHGA
39 nodular ganglioneuroblastoma 10.5 SYP CHGA
40 cystadenoma 10.5 SYP GNAS CHGA
41 pituitary tumors 10.5 POMC GNAS CNC2
42 goblet cell carcinoid 10.5 CTNNB1 CHGA
43 lung oat cell carcinoma 10.5 SYP POMC CHGA
44 carotid body cancer 10.5 SYP CHGA
45 colon neuroendocrine neoplasm 10.5 SYP POMC CHGA
46 vaginal tubulovillous adenoma 10.5 SYP CTNNB1 CHGA
47 vaginal adenoma 10.5 SYP CTNNB1 CHGA
48 gastric neuroendocrine neoplasm 10.5 SYP CHGA
49 appendix adenocarcinoma 10.5 SYP GNAS
50 gangliocytoma 10.5 SYP POMC CHGA

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:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008221
2 pigmented micronodular adrenocortical disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0001580
3 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
4 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
5 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
9 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
10 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
11 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
12 striae distensae 58 31 frequent (33%) Frequent (79-30%) HP:0001065
13 slender build 58 31 frequent (33%) Frequent (79-30%) HP:0001533
14 increased susceptibility to fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002659
15 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198

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 cell migration GR00055-A-1 9.73 CTNNB1 NCAM1 PRKACA PRKACB PRKACG PRKAR1A
2 Decreased viability in esophageal squamous lineage GR00235-A 9.65 CHGA CTNNB1 ESR1 GNAS PDE8B POMC
3 Decreased viability after gemcitabine stimulation GR00107-A-2 9.33 PRKACB PRKACG PRKAR1A
4 Reduced mammosphere formation GR00396-S 9.23 BAD CHGA GNAS NCAM1 NR3C1 POMC

MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 CTNNB1 CYP19A1 ESR1 ESR2 GNAS NCAM1
2 homeostasis/metabolism MP:0005376 10.27 BAD CHGA CTNNB1 CYP19A1 ESR1 ESR2
3 cellular MP:0005384 10.24 BAD CTNNB1 CYP19A1 ESR1 ESR2 GNAS
4 endocrine/exocrine gland MP:0005379 10.22 BAD CHGA CTNNB1 CYP19A1 ESR1 ESR2
5 cardiovascular system MP:0005385 10.21 CHGA CTNNB1 CYP19A1 ESR1 ESR2 GNAS
6 nervous system MP:0003631 10.2 BAD CHGA CTNNB1 CYP19A1 ESR1 ESR2
7 adipose tissue MP:0005375 10.14 CYP19A1 ESR1 ESR2 GNAS NR3C1 POMC
8 liver/biliary system MP:0005370 10.03 CTNNB1 CYP19A1 ESR1 ESR2 GNAS NR3C1
9 muscle MP:0005369 10.01 CHGA CTNNB1 CYP19A1 ESR1 ESR2 GNAS
10 neoplasm MP:0002006 9.97 BAD CTNNB1 ESR1 ESR2 GNAS POMC
11 renal/urinary system MP:0005367 9.85 CHGA CTNNB1 CYP19A1 ESR1 ESR2 GNAS
12 no phenotypic analysis MP:0003012 9.8 CHGA CTNNB1 ESR1 ESR2 GNAS NR3C1
13 reproductive system MP:0005389 9.61 BAD CHGA CTNNB1 CYP19A1 ESR1 ESR2
14 skeleton MP:0005390 9.28 CTNNB1 CYP19A1 ESR1 ESR2 GNAS NR3C1

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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
2
Racepinephrine Approved Phase 2 329-65-7 838
3
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
5 Adrenocorticotropic Hormone Phase 2
6 Epinephryl borate Phase 2
7 Hydrocortisone hemisuccinate Phase 2
8 Hydrocortisone 17-butyrate 21-propionate Phase 2
9 Hormones Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Open-label, Dose Titration, Multi-center Study to Assess the Safety/Tolerability and Efficacy of Osilodrostat in Patients With All Types of Endogenous Cushing's Syndrome Except Cushing's Disease Completed NCT02468193 Phase 2 Osilodrostat
2 Phase 2 Study of the Safety and Efficacy of CORT125134 in the Treatment of Endogenous Cushing's Syndrome Completed NCT02804750 Phase 2 CORT125134
3 An Open-Label Extension Study of the Safety of Relacorilant in the Treatment of the Signs and Symptoms of Cushing Syndrome Recruiting NCT03604198 Phase 2 relacorilant
4 Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC). Completed NCT00668291
5 Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions 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 29

Anatomical Context for Primary Pigmented Nodular Adrenocortical Disease

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

40
Pituitary, Adrenal Gland, Breast, Cortex, Adrenal Cortex, Skin, Testes

Publications for Primary Pigmented Nodular Adrenocortical Disease

Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50) (show all 225)
# Title Authors PMID Year
1
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 61 6
16464939 2006
2
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. 61 6
12213893 2002
3
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
4
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. 6
24747643 2014
5
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 6
24855271 2014
6
Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. 6
24700472 2014
7
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. 6
24571724 2014
8
Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. 6
18272904 2008
9
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. 6
16767104 2006
10
Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up. 61
31912137 2020
11
Link between steroidogenesis, the cell cycle, and PKA in adrenocortical tumor cells. 61
31678420 2020
12
A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease. 61
31996203 2020
13
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels. 61
31074783 2019
14
Ultrasonographic Findings of 1385 Adrenal Masses: A Retrospective Study of 1319 Benign and 66 Malignant Masses. 61
29194699 2019
15
Corrigendum to: Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. 61
31730532 2019
16
Adrenal tumors: when to search for a germline abnormality? 61
30985498 2019
17
Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. 61
30875328 2019
18
Bilateral adrenocortical adenomas causing adrenocorticotropic hormone-independent Cushing's syndrome: A case report and review of the literature. 61
31119141 2019
19
Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation. 61
30897549 2019
20
Outcomes of Bilateral Adrenalectomy in Cushing's Syndrome. 61
31161102 2019
21
Cyclic Cushing's syndrome caused by neuroendocrine tumor: a case report. 61
30568069 2019
22
Carney Complex. 61
30428497 2019
23
Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report. 61
30699069 2019
24
Demographic Characteristics, Etiology, and Comorbidities of Patients with Cushing's Syndrome: A 10-Year Retrospective Study at a Large General Hospital in China. 61
30915114 2019
25
Factitious Cushing's Syndrome: A Diagnosis to Consider When Evaluating Hypercortisolism. 61
30886602 2019
26
A case of autonomous cortisol secretion in a patient with subclinical Cushing's syndrome, GNAS mutation, and paradoxical cortisol response to dexamethasone. 61
30670014 2019
27
Unilateral Adrenalectomy Could Be a Valid Option for Primary Nodular Adrenal Disease: Evidence From Twins. 61
30591956 2019
28
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. 61
30129786 2018
29
Carney Syndrome Presented as a Pathological Spine Fracture in a 35-Year-Old Male. 61
30442879 2018
30
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex. 61
29318463 2018
31
Genetics of micronodular adrenal hyperplasia and Carney complex. 61
30093212 2018
32
Genetics of tumors of the adrenal cortex. 61
29233839 2018
33
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series. 61
29909407 2018
34
Failure to Thrive in the Context of Carney Complex. 61
29161691 2018
35
Carney complex review: Genetic features. 61
29162369 2018
36
Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. 61
29094256 2018
37
Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review. 61
30259502 2018
38
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion. 61
28973408 2017
39
Lipofuscin Accumulation in Cortisol-Producing Adenomas With and Without PRKACA Mutations. 61
28834963 2017
40
PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. 61
28522647 2017
41
Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation. 61
28871709 2017
42
Corticotropinoma as a Component of Carney Complex. 61
29264542 2017
43
Primary bilateral adrenal nodular disease with Cushing's syndrome: varying aetiology. 61
28739615 2017
44
A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease. 61
28878664 2017
45
Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy. 61
28391254 2017
46
Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients. 61
27875378 2017
47
Circadian Plasma Cortisol Measurements Reflect Severity of Hypercortisolemia in Children with Different Etiologies of Endogenous Cushing Syndrome. 61
28433999 2017
48
Carney complex: A familial lentiginosis predisposing to a variety of tumors. 61
27943004 2016
49
Diurnal Plasma Cortisol Measurements Utility in Differentiating Various Etiologies of Endogenous Cushing Syndrome. 61
27643448 2016
50
PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease. 61
27699247 2016

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 96)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.26 SSTR1 PRKAR1A PRKACG PRKACB PRKACA POMC
2
Show member pathways
13.89 PRKAR1A PRKACG PRKACB PRKACA GNAS ESR2
3
Show member pathways
13.33 PRKAR1A PRKACG PRKACB PRKACA GNAS ESR2
4
Show member pathways
13.3 PRKAR1A PRKACG PRKACB PRKACA NR3C1 GNAS
5
Show member pathways
13.18 PRKAR1A PRKACG PRKACB PRKACA POMC PDE8B
6
Show member pathways
13.13 PRKAR1A PRKACG PRKACB PRKACA GNAS BAD
7
Show member pathways
13.13 PRKAR1A PRKACG PRKACB PRKACA POMC GNAS
8
Show member pathways
13.07 PRKACG PRKACB PRKACA GNAS CTNNB1 BAD
9
Show member pathways
13.02 PRKACG PRKACB PRKACA GNAS CTNNB1 BAD
10
Show member pathways
12.97 PRKAR1A PRKACG PRKACB PRKACA GNAS BAD
11
Show member pathways
12.96 PRKACG PRKACB PRKACA POMC PDE8B PDE11A
12
Show member pathways
12.95 PRKAR1A PRKACG PRKACB PRKACA GNAS BAD
13
Show member pathways
12.89 PRKACB PRKACA ESR2 ESR1 BAD
14
Show member pathways
12.88 PRKAR1A PRKACG PRKACB PRKACA GNAS CTNNB1
15 12.88 PRKACG PRKACB PRKACA GNAS ESR2 ESR1
16
Show member pathways
12.83 PRKACG PRKACB PRKACA GNAS CTNNB1 BAD
17
Show member pathways
12.75 PRKAR1A PRKACG PRKACB PRKACA BAD
18
Show member pathways
12.75 PRKAR1A PRKACG PRKACB PRKACA GNAS
19
Show member pathways
12.75 PRKAR1A PRKACG PRKACB PRKACA GNAS
20
Show member pathways
12.74 PRKACG PRKACB PRKACA GNAS ESR2 ESR1
21
Show member pathways
12.73 PRKACG PRKACB PRKACA GNAS CTNNB1
22 12.69 SYP SSTR1 PRKAR1A PRKACA POMC NCAM1
23
Show member pathways
12.69 SSTR1 PRKACG PRKACB PRKACA POMC GNAS
24
Show member pathways
12.68 PRKAR1A PRKACG PRKACB PRKACA GNAS
25
Show member pathways
12.67 PRKAR1A PRKACG PRKACB PRKACA BAD
26
Show member pathways
12.66 PRKAR1A PRKACG PRKACB PRKACA GNAS BAD
27
Show member pathways
12.65 PRKACG PRKACB PRKACA PDE8B PDE11A GNAS
28
Show member pathways
12.63 PRKACG PRKACB PRKACA GNAS BAD
29
Show member pathways
12.63 PRKAR1A PRKACG PRKACB PRKACA POMC GNAS
30
Show member pathways
12.54 PRKAR1A PRKACG PRKACB PRKACA GNAS
31
Show member pathways
12.53 NR3C1 ESR2 ESR1 BAD
32
Show member pathways
12.52 PRKACG PRKACB PRKACA GNAS
33
Show member pathways
12.49 PRKAR1A PRKACG PRKACB PRKACA
34
Show member pathways
12.48 PRKAR1A PRKACG PRKACB PRKACA GNAS
35
Show member pathways
12.46 PRKAR1A PRKACG PRKACB PRKACA GNAS
36 12.46 PRKAR1A PRKACG PRKACB PRKACA GNAS
37
Show member pathways
12.42 PRKAR1A PRKACG PRKACB PRKACA CTNNB1
38 12.4 PRKACG PRKACB PRKACA ESR1 CTNNB1
39 12.37 PRKACG PRKACB PRKACA BAD
40
Show member pathways
12.36 PRKACG PRKACB PRKACA GNAS
41 12.34 SSTR1 PRKACG PRKACB PRKACA POMC GNAS
42
Show member pathways
12.33 PRKACG PRKACB PRKACA GNAS
43
Show member pathways
12.31 PRKAR1A PRKACG PRKACB PRKACA GNAS
44
Show member pathways
12.3 PRKAR1A PRKACG PRKACB PRKACA GNAS ESR2
45
Show member pathways
12.28 PRKAR1A PRKACG PRKACB PRKACA GNAS
46
Show member pathways
12.27 PRKACG PRKACB PRKACA GNAS
47
Show member pathways
12.27 PRKACG PRKACB PRKACA GNAS
48 12.25 PRKAR1A PRKACG PRKACB PRKACA
49 12.24 PRKAR1A PRKACG PRKACB PRKACA GNAS CTNNB1
50 12.23 ESR1 CYP19A1 CTNNB1 BAD

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 9.63 SYP PRKACB PRKACA GNAS CTNNB1 CHGA
2 intercellular bridge GO:0045171 9.5 PRKACG PRKACB PRKACA
3 neuromuscular junction GO:0031594 9.43 SYP PRKAR1A PRKACA
4 cAMP-dependent protein kinase complex GO:0005952 9.13 PRKAR1A PRKACB PRKACA
5 ciliary base GO:0097546 8.92 PRKAR1A PRKACG PRKACB PRKACA

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.06 SSTR1 PRKACB POMC PDE8B PDE11A NR3C1
2 blood coagulation GO:0007596 9.76 PRKAR1A PRKACG PRKACB PRKACA
3 high-density lipoprotein particle assembly GO:0034380 9.5 PRKACG PRKACB PRKACA
4 regulation of protein processing GO:0070613 9.48 PRKACB PRKACA
5 activation of protein kinase A activity GO:0034199 9.46 PRKAR1A PRKACG PRKACB PRKACA
6 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.43 PRKACB PRKACA
7 protein kinase A signaling GO:0010737 9.43 PRKACG PRKACB PRKACA
8 hair follicle placode formation GO:0060789 9.37 GNAS CTNNB1
9 renal water homeostasis GO:0003091 9.35 PRKAR1A PRKACG PRKACB PRKACA GNAS
10 cellular response to glucagon stimulus GO:0071377 9.02 PRKAR1A PRKACG PRKACB PRKACA GNAS

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.8 PRKACA NR3C1 ESR1 CTNNB1 BAD
2 steroid hormone receptor activity GO:0003707 9.54 NR3C1 ESR2 ESR1
3 nuclear receptor activity GO:0004879 9.43 NR3C1 ESR2 ESR1
4 estrogen receptor activity GO:0030284 9.32 ESR2 ESR1
5 estrogen response element binding GO:0034056 9.16 ESR2 ESR1
6 steroid binding GO:0005496 9.13 NR3C1 ESR2 ESR1
7 cAMP-dependent protein kinase activity GO:0004691 8.8 PRKACG PRKACB PRKACA

Sources for Primary Pigmented Nodular Adrenocortical Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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