PPNAD
MCID: PRM051
MIFTS: 53

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 acth-independent macronodular adrenal hyperplasia 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 Activation of cAMP-Dependent PKA. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, cortex and skin, 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 195)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 32.3 PRKAR2B PRKAR1A POMC PDE8B PDE11A MIR483
2 carney complex variant 31.7 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA POMC
3 lentigines 31.5 PRKAR1A POMC CNC2
4 adenoma 31.1 SYP PRKAR1A POMC GNAS CTNNB1 CHGA
5 adrenal adenoma 31.1 PRKAR1A POMC MIR483 GNAS
6 conn's syndrome 31.0 PRKAR1A POMC PDE11A NR3C1 GNAS CNC2
7 adrenocortical carcinoma, hereditary 31.0 PRKAR1A MIR483 GNAS CTNNB1
8 pituitary adenoma 31.0 PRKAR1A POMC GNAS CHGA
9 acth-independent cushing syndrome 31.0 PRKAR1A PRKACA PDE8B PDE11A GNAS ARMC5
10 adrenal cortical adenoma 30.9 SYP PRKAR1A POMC MIR483 CTNNB1 CHGA
11 hyperandrogenism 30.6 POMC NR3C1 CYP19A1
12 mccune-albright syndrome 30.6 PRKAR1A PDE8B PDE11A GNAS CYP19A1
13 pituitary adenoma, prolactin-secreting 30.5 SSTR1 PRKAR1A POMC GNAS CHGA
14 adrenal cortical carcinoma 29.8 SYP PRKAR1A POMC PDE11A MIR483 CTNNB1
15 pigmented nodular adrenocortical disease, primary, 1 12.4
16 pigmented nodular adrenocortical disease, primary, 2 12.2
17 pigmented nodular adrenocortical disease, primary, 3 12.2
18 pigmented nodular adrenocortical disease, primary, 4 12.2
19 acth-independent macronodular adrenal hyperplasia 1 10.6 POMC GNAS
20 breast adenoma 10.6 PRKAR1A PDE8B PDE11A
21 breast neuroendocrine neoplasm 10.6 SYP CHGA
22 primary hepatic neuroendocrine carcinoma 10.6 SYP CHGA
23 anal neuroendocrine tumor 10.6 SYP NCAM1
24 small cell carcinoma of the bladder 10.6 SYP CHGA
25 acinar cell cystadenocarcinoma 10.6 SYP CHGA
26 vulvar eccrine porocarcinoma 10.6 SYP CHGA
27 lung combined type small cell carcinoma 10.6 SYP NCAM1
28 cervical large cell neuroendocrine carcinoma 10.6 SYP CHGA
29 gastrointestinal neuroendocrine benign tumor 10.6 SYP CHGA
30 appendix carcinoid tumor 10.6 SYP CHGA
31 auditory system cancer 10.6 SYP CHGA
32 testicular sex cord-stromal neoplasm 10.6 PDE11A GNAS
33 mixed ductal-endocrine carcinoma 10.6 SYP CHGA
34 alzheimer disease 16 10.6 POMC NR3C1
35 hypoganglionosis 10.6 SYP NCAM1
36 cauda equina neoplasm 10.5 SYP CHGA
37 duodenal benign neoplasm 10.5 SYP CHGA
38 glomangiosarcoma 10.5 SYP NCAM1
39 testicular leydig cell tumor 10.5 PDE11A GNAS
40 ampulla of vater neoplasm 10.5 SYP CHGA
41 cerebellopontine angle primitive neuroectodermal tumor 10.5 SYP NCAM1
42 vaginal tubulovillous adenoma 10.5 SYP CHGA
43 growth hormone secreting pituitary adenoma 10.5 PRKAR1A POMC GNAS
44 ureter transitional cell carcinoma 10.5 NCAM1 CHGA
45 breast papillary carcinoma 10.5 SYP CHGA
46 middle ear adenoma 10.5 SYP CHGA
47 cystadenoma 10.5 SYP GNAS CHGA
48 pituitary tumors 10.5 POMC GNAS CNC2
49 osseous heteroplasia, progressive 10.5 PRKAR1A POMC GNAS
50 goblet cell carcinoid 10.5 CTNNB1 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 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
4 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
5 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
6 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
7 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
8 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
9 striae distensae 58 31 frequent (33%) Frequent (79-30%) HP:0001065
10 slender build 58 31 frequent (33%) Frequent (79-30%) HP:0001533
11 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
12 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
13 increased susceptibility to fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002659
14 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
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 9.81 PRKACB PRKACG PRKAR1A
2 Decreased cell migration GR00055-A-2 9.81 NCAM1
3 Decreased cell migration GR00055-A-3 9.81 NCAM1 PRKAR2B
4 Decreased viability after gemcitabine stimulation GR00107-A-2 9.26 PRKACB PRKACG PRKAR1A PRKAR2B
5 Reduced mammosphere formation GR00396-S 9.23 BAD CHGA GNAS NCAM1 NR3C1 POMC

MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 CTNNB1 CYP19A1 GNAS NCAM1 NR3C1 PDE11A
2 homeostasis/metabolism MP:0005376 10.13 ARMC5 BAD CHGA CTNNB1 CYP19A1 GNAS
3 endocrine/exocrine gland MP:0005379 10.07 ARMC5 BAD CHGA CTNNB1 CYP19A1 GNAS
4 adipose tissue MP:0005375 9.98 CYP19A1 GNAS NR3C1 POMC PRKACA PRKAR1A
5 nervous system MP:0003631 9.97 BAD CHGA CTNNB1 CYP19A1 GNAS NCAM1
6 liver/biliary system MP:0005370 9.86 CTNNB1 CYP19A1 GNAS NR3C1 POMC PRKACA
7 pigmentation MP:0001186 9.35 CTNNB1 CYP19A1 POMC PRKAR1A PRKAR2B
8 renal/urinary system MP:0005367 9.23 CHGA CTNNB1 CYP19A1 GNAS NR3C1 PDE8B

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 Hormones Phase 2
8 Hydrocortisone 17-butyrate 21-propionate Phase 2
9 Hydrocortisone hemisuccinate 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 Enrolling by invitation 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 Completed 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
Adrenal Gland, Cortex, Skin, Adrenal 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 230)
# 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. 6 61
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
Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. 6
24700472 2014
6
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 6
24855271 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
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma. 61
32249909 2020
11
Update on primary micronodular bilateral adrenocortical diseases. 61
32209819 2020
12
CORTICOTROPINOMA AS THE UNDERLYING CAUSE OF INTERMITTENT CUSHING'S SYNDROME IN A PATIENT PREVIOUSLY DIAGNOSED WITH PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE. 61
32293705 2020
13
Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up. 61
31912137 2020
14
Adrenocortical hyperplasia: A multifaceted disease. 61
32115357 2020
15
Update of Genetic and Molecular Causes of Adrenocortical Hyperplasias Causing Cushing Syndrome. 61
32097969 2020
16
Link between steroidogenesis, the cell cycle, and PKA in adrenocortical tumor cells. 61
31678420 2020
17
A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease. 61
31996203 2020
18
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels. 61
31074783 2019
19
Ultrasonographic Findings of 1385 Adrenal Masses: A Retrospective Study of 1319 Benign and 66 Malignant Masses. 61
29194699 2019
20
Corrigendum to: Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. 61
31730532 2019
21
Adrenal tumors: when to search for a germline abnormality? 61
30985498 2019
22
Bilateral adrenocortical adenomas causing adrenocorticotropic hormone-independent Cushing's syndrome: A case report and review of the literature. 61
31119141 2019
23
Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. 61
30875328 2019
24
Outcomes of Bilateral Adrenalectomy in Cushing's Syndrome. 61
31161102 2019
25
Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation. 61
30897549 2019
26
Carney Complex. 61
30428497 2019
27
Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report. 61
30699069 2019
28
Cyclic Cushing's syndrome caused by neuroendocrine tumor: a case report. 61
30568069 2019
29
Factitious Cushing's Syndrome: A Diagnosis to Consider When Evaluating Hypercortisolism. 61
30886602 2019
30
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
31
Unilateral Adrenalectomy Could Be a Valid Option for Primary Nodular Adrenal Disease: Evidence From Twins. 61
30591956 2019
32
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
33
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
34
Carney Syndrome Presented as a Pathological Spine Fracture in a 35-Year-Old Male. 61
30442879 2018
35
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex. 61
29318463 2018
36
Genetics of micronodular adrenal hyperplasia and Carney complex. 61
30093212 2018
37
Genetics of tumors of the adrenal cortex. 61
29233839 2018
38
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series. 61
29909407 2018
39
Failure to Thrive in the Context of Carney Complex. 61
29161691 2018
40
Carney complex review: Genetic features. 61
29162369 2018
41
Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. 61
29094256 2018
42
Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review. 61
30259502 2018
43
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion. 61
28973408 2017
44
Lipofuscin Accumulation in Cortisol-Producing Adenomas With and Without PRKACA Mutations. 61
28834963 2017
45
PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. 61
28522647 2017
46
Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation. 61
28871709 2017
47
Corticotropinoma as a Component of Carney Complex. 61
29264542 2017
48
Primary bilateral adrenal nodular disease with Cushing's syndrome: varying aetiology. 61
28739615 2017
49
A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease. 61
28878664 2017
50
Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy. 61
28391254 2017

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 99)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.27 SSTR1 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA
2
Show member pathways
13.63 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
3
Show member pathways
13.46 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
4
Show member pathways
13.39 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA PDE11A
5
Show member pathways
13.38 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
6
Show member pathways
13.31 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA NR3C1
7
Show member pathways
13.22 PRKACG PRKACB PRKACA GNAS CTNNB1 BAD
8
Show member pathways
13.18 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA POMC
9
Show member pathways
13.16 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
10
Show member pathways
13.14 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
11
Show member pathways
13.13 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA POMC
12
Show member pathways
13.07 PRKACG PRKACB PRKACA GNAS CTNNB1 BAD
13
Show member pathways
13.03 PRKACG PRKACB PRKACA GNAS CTNNB1 BAD
14
Show member pathways
13.02 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA CTNNB1
15
Show member pathways
13 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA BAD
16
Show member pathways
12.99 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
17
Show member pathways
12.97 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
18 12.94 PRKACG PRKACB PRKACA GNAS CTNNB1 BAD
19
Show member pathways
12.92 PRKACG PRKACB PRKACA POMC PDE8B PDE11A
20
Show member pathways
12.87 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
21
Show member pathways
12.84 PRKACG PRKACB PRKACA GNAS CTNNB1 BAD
22
Show member pathways
12.79 SSTR1 PRKACG PRKACB PRKACA POMC GNAS
23
Show member pathways
12.78 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA
24
Show member pathways
12.78 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA BAD
25
Show member pathways
12.78 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
26
Show member pathways
12.78 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
27
Show member pathways
12.76 PRKACG PRKACB PRKACA GNAS BAD
28
Show member pathways
12.74 PRKACG PRKACB PRKACA GNAS CTNNB1
29
Show member pathways
12.71 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
30 12.7 SYP SSTR1 PRKAR1A PRKACA POMC NCAM1
31
Show member pathways
12.7 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA BAD
32
Show member pathways
12.67 PRKACG PRKACB PRKACA PDE8B PDE11A GNAS
33
Show member pathways
12.67 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
34
Show member pathways
12.64 PRKACG PRKACB PRKACA GNAS BAD
35
Show member pathways
12.63 PRKAR2B PRKAR1A PRKACB PRKACA GNAS
36
Show member pathways
12.63 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA POMC
37
Show member pathways
12.56 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA
38
Show member pathways
12.54 PRKACG PRKACB PRKACA GNAS
39
Show member pathways
12.54 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
40
Show member pathways
12.53 PRKACG PRKACB PRKACA GNAS
41
Show member pathways
12.51 PRKACG PRKACB PRKACA CTNNB1
42
Show member pathways
12.49 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
43
Show member pathways
12.48 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
44 12.46 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
45
Show member pathways
12.43 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA CTNNB1
46
Show member pathways
12.42 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
47
Show member pathways
12.39 PRKACG PRKACB PRKACA CTNNB1
48 12.38 PRKACG PRKACB PRKACA CTNNB1
49 12.38 PRKACG PRKACB PRKACA BAD
50
Show member pathways
12.37 PRKACG PRKACB PRKACA GNAS

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 cytosol GO:0005829 10.07 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA PDE8B
2 centrosome GO:0005813 9.8 PRKAR2B PRKAR1A PRKACB PRKACA CTNNB1
3 perinuclear region of cytoplasm GO:0048471 9.7 SYP PRKAR2B PRKACB PRKACA GNAS CTNNB1
4 neuromuscular junction GO:0031594 9.54 SYP PRKAR1A PRKACA
5 intercellular bridge GO:0045171 9.5 PRKACG PRKACB PRKACA
6 cAMP-dependent protein kinase complex GO:0005952 9.26 PRKAR2B PRKAR1A PRKACB PRKACA
7 ciliary base GO:0097546 9.02 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.77 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA
2 activation of protein kinase A activity GO:0034199 9.55 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA
3 regulation of osteoblast differentiation GO:0045667 9.54 PRKACA CTNNB1
4 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.52 PRKAR2B PRKAR1A
5 regulation of cAMP-dependent protein kinase activity GO:2000479 9.51 PRKAR2B PRKAR1A
6 protein kinase A signaling GO:0010737 9.5 PRKACG PRKACB PRKACA
7 regulation of cAMP-mediated signaling GO:0043949 9.49 PRKAR2B PRKAR1A
8 regulation of protein processing GO:0070613 9.48 PRKACB PRKACA
9 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.46 PRKACB PRKACA
10 hair follicle placode formation GO:0060789 9.43 GNAS CTNNB1
11 high-density lipoprotein particle assembly GO:0034380 9.43 PRKACG PRKACB PRKACA
12 renal water homeostasis GO:0003091 9.43 PRKAR2B PRKAR1A PRKACG PRKACB PRKACA GNAS
13 response to clozapine GO:0097338 9.4 PRKAR2B PRKACB
14 cellular response to glucagon stimulus GO:0071377 9.1 PRKAR2B 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 PRKAR2B PRKACA NR3C1 CTNNB1 BAD
2 ubiquitin protein ligase binding GO:0031625 9.76 PRKAR2B PRKAR1A PRKACB PRKACA
3 protein kinase A catalytic subunit binding GO:0034236 9.43 PRKAR2B PRKAR1A
4 protein kinase A regulatory subunit binding GO:0034237 9.43 PRKACG PRKACB PRKACA
5 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.37 PRKAR2B PRKAR1A
6 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.33 PRKAR2B PRKAR1A PDE11A
7 cAMP-dependent protein kinase regulator activity GO:0008603 9.32 PRKAR2B PRKAR1A
8 AMP-activated protein kinase activity GO:0004679 9.13 PRKACG PRKACB PRKACA
9 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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