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 53 59 29 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:



External Ids:

Disease Ontology 12 DOID:0060280
ICD10 via Orphanet 34 E24.8
Orphanet 59 ORPHA189439
UMLS 72 C1864846 C1864851

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: 189439DefinitionPrimary 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 carney complex variant 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 Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and cortex, 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 : 75 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 144)
# Related Disease Score Top Affiliating Genes
1 carney complex variant 32.9 PRKAR1A PRKACB PDE8B PDE11A GNAS
2 conn's syndrome 31.4 PRKAR1A POMC PDE11A GNAS
3 adrenal cortical adenoma 31.4 SYP PRKAR1A POMC
4 pituitary adenoma, prolactin-secreting 30.7 PRKAR1A POMC GNAS
5 adrenocortical carcinoma, hereditary 28.9 SYP PRKAR1A POMC GNAS CYP19A1 CTNNB1
6 pigmented nodular adrenocortical disease, primary, 1 12.4
7 pigmented nodular adrenocortical disease, primary, 2 12.2
8 pigmented nodular adrenocortical disease, primary, 3 12.2
9 pigmented nodular adrenocortical disease, primary, 4 12.2
10 acth-independent macronodular adrenal hyperplasia 11.8
11 hormone producing pituitary cancer 10.6 PRKAR1A GNAS
12 adenoma 10.6
13 gangliocytoma 10.6 SYP POMC
14 tuberculum sellae meningioma 10.5 SYP POMC
15 ureter small cell carcinoma 10.5 SYP CHGA
16 sella turcica neoplasm 10.5 SYP POMC
17 urinary bladder small cell neuroendocrine carcinoma 10.5 SYP CHGA
18 auditory system cancer 10.5 SYP CHGA
19 acinar cell cystadenocarcinoma 10.5 SYP CHGA
20 primary hepatic neuroendocrine carcinoma 10.5 SYP CHGA
21 cellular ependymoma 10.5 SYP CHGA
22 pseudopseudohypoparathyroidism 10.5 PRKAR1A GNAS
23 peritoneal serous adenocarcinoma 10.5 SYP CHGA
24 small cell carcinoma of the bladder 10.5 SYP CHGA
25 gastrointestinal neuroendocrine tumor 10.5 SYP CHGA
26 chordoid meningioma 10.5 SYP CHGA
27 lentigines 10.5
28 acth-independent cushing syndrome 10.5
29 atypical follicular adenoma 10.5 SYP CHGA
30 pulmonary large cell neuroendocrine carcinoma 10.5 SYP CHGA
31 olfactory groove meningioma 10.5 SYP CHGA
32 lung oat cell carcinoma 10.4 POMC CHGA
33 adrenal cortex disease 10.4 PRKAR1A POMC PDE11A
34 cauda equina neoplasm 10.4 SYP CHGA
35 pituitary carcinoma 10.4 POMC CHGA
36 lung combined type small cell carcinoma 10.4 SYP NCAM1
37 acute thyroiditis 10.4 POMC CHGA
38 ovarian serous adenofibroma 10.4 POMC NCAM1
39 goblet cell carcinoid 10.4 CTNNB1 CHGA
40 nodular ganglioneuroblastoma 10.4 SYP CHGA
41 extrahepatic bile duct adenocarcinoma 10.4 SYP NCAM1
42 testotoxicosis 10.4 GNAS CYP19A1
43 adrenal adenoma 10.4
44 multiple endocrine neoplasia 10.4
45 cutaneous ganglioneuroma 10.4 SYP NCAM1
46 acrodysostosis 10.4 PRKAR1A GNAS
47 orbital cancer 10.4 SYP NCAM1
48 autonomic nervous system benign neoplasm 10.4 SYP CHGA
49 hypoganglionosis 10.4 SYP NCAM1
50 pineocytoma 10.3 SYP 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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008221
2 pigmented micronodular adrenocortical disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0001580
3 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
4 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
5 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
8 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
9 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
10 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
11 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
12 striae distensae 59 32 frequent (33%) Frequent (79-30%) HP:0001065
13 slender build 59 32 frequent (33%) Frequent (79-30%) HP:0001533
14 increased susceptibility to fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002659
15 myopathy 59 32 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 9.35 CTNNB1 NCAM1 PRKACA PRKACB PRKAR1A
2 Reduced mammosphere formation GR00396-S 9.17 BAD CHGA GNAS NCAM1 POMC PRKACA

MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 CTNNB1 CYP19A1 ESR1 ESR2 GNAS NCAM1
2 homeostasis/metabolism MP:0005376 10.25 BAD CHGA CTNNB1 CYP19A1 ESR1 ESR2
3 endocrine/exocrine gland MP:0005379 10.24 BAD CHGA CTNNB1 CYP19A1 ESR1 ESR2
4 growth/size/body region MP:0005378 10.22 BAD CHGA CTNNB1 CYP19A1 ESR1 ESR2
5 cardiovascular system MP:0005385 10.21 CHGA CTNNB1 CYP19A1 ESR1 ESR2 GNAS
6 cellular MP:0005384 10.2 BAD CTNNB1 CYP19A1 ESR1 ESR2 GNAS
7 mortality/aging MP:0010768 10.2 BAD CHGA CTNNB1 ESR1 ESR2 GNAS
8 nervous system MP:0003631 10.18 BAD CHGA CTNNB1 CYP19A1 ESR1 ESR2
9 adipose tissue MP:0005375 10.12 CYP19A1 ESR1 ESR2 GNAS POMC PRKACA
10 integument MP:0010771 10.04 CTNNB1 CYP19A1 ESR1 ESR2 GNAS POMC
11 liver/biliary system MP:0005370 10.02 CTNNB1 CYP19A1 ESR1 ESR2 GNAS POMC
12 neoplasm MP:0002006 10.01 BAD CTNNB1 ESR1 ESR2 GNAS POMC
13 muscle MP:0005369 9.98 CHGA CTNNB1 CYP19A1 ESR1 ESR2 GNAS
14 renal/urinary system MP:0005367 9.81 CHGA CTNNB1 CYP19A1 ESR1 ESR2 GNAS
15 no phenotypic analysis MP:0003012 9.8 CHGA CTNNB1 ESR1 ESR2 GNAS POMC
16 normal MP:0002873 9.8 CTNNB1 CYP19A1 ESR1 ESR2 GNAS PRKAR1A
17 reproductive system MP:0005389 9.56 BAD CHGA CTNNB1 CYP19A1 ESR1 ESR2
18 skeleton MP:0005390 9.23 CTNNB1 CYP19A1 ESR1 ESR2 GNAS PRKACA

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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 2 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
3
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
5
Cortisone Experimental Phase 2 53-06-5 222786
6 Adrenocorticotropic Hormone Phase 2
7 Anti-Inflammatory Agents Phase 2
8 Epinephryl borate Phase 2
9 Hormones Phase 2
10 Hydrocortisone 17-butyrate 21-propionate Phase 2
11 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 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:

41
Adrenal Gland, Skin, Cortex, 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 221)
# Title Authors PMID Year
1
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 38 71
16464939 2006
2
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. 38 71
12213893 2002
3
Analysis of protein-coding genetic variation in 60,706 humans. 71
27535533 2016
4
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. 71
24747643 2014
5
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 71
24855271 2014
6
Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. 71
24700472 2014
7
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. 71
24571724 2014
8
Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. 71
18272904 2008
9
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. 71
16767104 2006
10
Ultrasonographic Findings of 1385 Adrenal Masses: A Retrospective Study of 1319 Benign and 66 Malignant Masses. 38
29194699 2019
11
Illicit upregulation of serotonin signaling pathway in adrenals of patients with high plasma or intraadrenal ACTH levels. 38
31074783 2019
12
Adrenal tumors: when to search for a germline abnormality? 38
30985498 2019
13
Bilateral adrenocortical adenomas causing adrenocorticotropic hormone-independent Cushing's syndrome: A case report and review of the literature. 38
31119141 2019
14
Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. 38
30875328 2019
15
Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation. 38
30897549 2019
16
Outcomes of Bilateral Adrenalectomy in Cushing's Syndrome. 38
31161102 2019
17
Cyclic Cushing's syndrome caused by neuroendocrine tumor: a case report. 38
30568069 2019
18
Carney Complex. 38
30428497 2019
19
Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report. 38
30699069 2019
20
Demographic Characteristics, Etiology, and Comorbidities of Patients with Cushing's Syndrome: A 10-Year Retrospective Study at a Large General Hospital in China. 38
30915114 2019
21
Factitious Cushing's Syndrome: A Diagnosis to Consider When Evaluating Hypercortisolism. 38
30886602 2019
22
A case of autonomous cortisol secretion in a patient with subclinical Cushing's syndrome, GNAS mutation, and paradoxical cortisol response to dexamethasone. 38
30670014 2019
23
Unilateral Adrenalectomy Could Be a Valid Option for Primary Nodular Adrenal Disease: Evidence From Twins. 38
30591956 2019
24
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. 38
30129786 2018
25
Carney Syndrome Presented as a Pathological Spine Fracture in a 35-Year-Old Male. 38
30442879 2018
26
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex. 38
29318463 2018
27
Genetics of micronodular adrenal hyperplasia and Carney complex. 38
30093212 2018
28
Genetics of tumors of the adrenal cortex. 38
29233839 2018
29
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series. 38
29909407 2018
30
Failure to Thrive in the Context of Carney Complex. 38
29161691 2018
31
Carney complex review: Genetic features. 38
29162369 2018
32
Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. 38
29094256 2018
33
Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review. 38
30259502 2018
34
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion. 38
28973408 2017
35
Lipofuscin Accumulation in Cortisol-Producing Adenomas With and Without PRKACA Mutations. 38
28834963 2017
36
PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. 38
28522647 2017
37
Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation. 38
28871709 2017
38
Corticotropinoma as a Component of Carney Complex. 38
29264542 2017
39
Primary bilateral adrenal nodular disease with Cushing's syndrome: varying aetiology. 38
28739615 2017
40
A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease. 38
28878664 2017
41
Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy. 38
28391254 2017
42
Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients. 38
27875378 2017
43
Circadian Plasma Cortisol Measurements Reflect Severity of Hypercortisolemia in Children with Different Etiologies of Endogenous Cushing Syndrome. 38
28433999 2017
44
Diurnal Plasma Cortisol Measurements Utility in Differentiating Various Etiologies of Endogenous Cushing Syndrome. 38
27643448 2016
45
Carney complex: A familial lentiginosis predisposing to a variety of tumors. 38
27943004 2016
46
PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease. 38
27699247 2016
47
Bilateral inferior petrosal sinus sampling using vasopressin. 38
27186561 2016
48
Use of 3-Dimensional Volumetric Modeling of Adrenal Gland Size in Patients with Primary Pigmented Nodular Adrenocortical Disease. 38
27065461 2016
49
Investigation for Paediatric Cushing's Syndrome Using Twenty-Four-Hour Urinary Free Cortisol Determination. 38
27287747 2016
50
Spontaneous resolution of avascular necrosis of femoral heads following cure of Cushing's syndrome. 38
27252864 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 85)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.14 PRKAR1A PRKACB PRKACA POMC PDE8B PDE11A
2
Show member pathways
13.2 PRKAR1A PRKACB PRKACA GNAS ESR2 ESR1
3
Show member pathways
13.07 PRKAR1A PRKACB PRKACA POMC PDE8B GNAS
4
Show member pathways
13.03 PRKAR1A PRKACB PRKACA GNAS BAD
5
Show member pathways
13.02 PRKACB PRKACA GNAS ESR2 ESR1
6
Show member pathways
12.99 PRKAR1A PRKACB PRKACA POMC GNAS CTNNB1
7
Show member pathways
12.97 PRKACB PRKACA GNAS CTNNB1 BAD
8
Show member pathways
12.95 PRKACB PRKACA GNAS CTNNB1 BAD
9
Show member pathways
12.87 PRKAR1A PRKACB PRKACA GNAS BAD
10
Show member pathways
12.86 PRKACB PRKACA POMC PDE8B GNAS
11
Show member pathways
12.85 PRKAR1A PRKACB PRKACA GNAS BAD
12
Show member pathways
12.8 PRKACB PRKACA ESR2 ESR1 BAD
13
Show member pathways
12.75 PRKAR1A PRKACB PRKACA GNAS CTNNB1 BAD
14
Show member pathways
12.72 PRKACB PRKACA GNAS CTNNB1 BAD
15 12.72 PRKACB PRKACA GNAS ESR2 ESR1 CTNNB1
16
Show member pathways
12.65 PRKACB PRKACA GNAS CTNNB1
17
Show member pathways
12.65 PRKAR1A PRKACB PRKACA GNAS
18
Show member pathways
12.65 PRKAR1A PRKACB PRKACA GNAS
19
Show member pathways
12.63 PRKACB PRKACA GNAS ESR2 ESR1 BAD
20
Show member pathways
12.62 PRKAR1A PRKACB PRKACA BAD
21
Show member pathways
12.58 PRKAR1A PRKACB PRKACA GNAS
22 12.55 SYP PRKAR1A PRKACA POMC NCAM1
23
Show member pathways
12.53 PRKAR1A PRKACB PRKACA GNAS BAD
24
Show member pathways
12.52 PRKAR1A PRKACB PRKACA GNAS
25
Show member pathways
12.52 PRKACB PRKACA PDE8B PDE11A GNAS
26
Show member pathways
12.5 PRKAR1A PRKACB PRKACA POMC GNAS
27
Show member pathways
12.43 PRKAR1A PRKACB PRKACA GNAS
28
Show member pathways
12.38 PRKAR1A PRKACB PRKACA GNAS
29
Show member pathways
12.37 PRKAR1A PRKACB PRKACA GNAS
30 12.36 PRKAR1A PRKACB PRKACA GNAS
31
Show member pathways
12.32 PRKAR1A PRKACB PRKACA CTNNB1
32 12.32 PRKACB PRKACA GNAS BAD
33 12.3 PRKACB PRKACA ESR1 CTNNB1
34
Show member pathways
12.2 PRKAR1A PRKACB PRKACA GNAS
35
Show member pathways
12.17 PRKAR1A PRKACB PRKACA GNAS
36
Show member pathways
12.17 PRKAR1A PRKACB PRKACA GNAS CTNNB1 BAD
37 12.15 PRKAR1A PRKACB PRKACA GNAS CTNNB1
38 12.13 ESR1 CYP19A1 CTNNB1 BAD
39 12.13 PRKAR1A PRKACB PRKACA ESR2 CTNNB1
40
Show member pathways
12.1 PRKACB PRKACA CTNNB1
41 12.1 POMC PDE8B PDE11A GNAS
42 12.09 NCAM1 CTNNB1 BAD
43 12.06 PRKACB PRKACA BAD
44
Show member pathways
12.06 PRKAR1A PRKACB PRKACA GNAS ESR2 ESR1
45 12.02 PRKACB PRKACA GNAS
46
Show member pathways
11.99 PRKACB PRKACA GNAS
47 11.98 PRKACB PRKACA GNAS
48 11.94 PRKACB PRKACA GNAS
49 11.94 PRKACB PRKACA GNAS
50 11.91 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 perinuclear region of cytoplasm GO:0048471 9.65 PRKACB PRKACA GNAS CTNNB1 CHGA
2 neuromuscular junction GO:0031594 9.33 SYP PRKAR1A PRKACA
3 ciliary base GO:0097546 9.13 PRKAR1A PRKACB PRKACA
4 cAMP-dependent protein kinase complex GO:0005952 8.8 PRKAR1A 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 positive regulation of DNA-binding transcription factor activity GO:0051091 9.65 ESR2 ESR1 CTNNB1
2 response to estradiol GO:0032355 9.63 ESR1 CTNNB1 BAD
3 intracellular estrogen receptor signaling pathway GO:0030520 9.54 ESR2 ESR1
4 uterus development GO:0060065 9.52 ESR1 CYP19A1
5 androgen metabolic process GO:0008209 9.51 ESR1 CYP19A1
6 regulation of osteoblast differentiation GO:0045667 9.43 PRKACA CTNNB1
7 high-density lipoprotein particle assembly GO:0034380 9.4 PRKACB PRKACA
8 regulation of protein processing GO:0070613 9.37 PRKACB PRKACA
9 activation of protein kinase A activity GO:0034199 9.33 PRKAR1A PRKACB PRKACA
10 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.32 PRKACB PRKACA
11 hair follicle placode formation GO:0060789 9.26 GNAS CTNNB1
12 renal water homeostasis GO:0003091 9.26 PRKAR1A PRKACB PRKACA GNAS
13 cellular response to glucagon stimulus GO:0071377 8.92 PRKAR1A PRKACB PRKACA GNAS
14 signal transduction GO:0007165 10.04 PRKACB POMC PDE8B PDE11A GNAS ESR2

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 9.37 PRKAR1A PDE11A
2 protein kinase A regulatory subunit binding GO:0034237 9.32 PRKACB PRKACA
3 cAMP-dependent protein kinase activity GO:0004691 9.16 PRKACB PRKACA
4 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 8.96 PDE8B
5 estrogen receptor activity GO:0030284 8.96 ESR2 ESR1
6 estrogen response element binding GO:0034056 8.62 ESR2 ESR1

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 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
46 MGI
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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