PPNAD
MCID: PRM051
MIFTS: 51

Primary Pigmented Nodular Adrenocortical Disease (PPNAD)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Primary Pigmented Nodular Adrenocortical Disease

MalaCards integrated aliases for Primary Pigmented Nodular Adrenocortical Disease:

Name: Primary Pigmented Nodular Adrenocortical Disease 11 19 58 28 14 75
Ppnad 19 58
Pigmented Nodular Adrenocortical Disease, Primary, 2 43
Pigmented Nodular Adrenocortical Disease, Primary, 1 43
Primary Pigmented Nodular Adrenal Dysplasia 58

Characteristics:


Inheritance:

Autosomal dominant 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


Summaries for Primary Pigmented Nodular Adrenocortical Disease

GARD: 19 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).

MalaCards based summary: Primary Pigmented Nodular Adrenocortical Disease, also known as ppnad, is related to acth-independent cushing syndrome and acth-independent macronodular adrenal hyperplasia. 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 Disease and Signal Transduction. The drugs Racepinephrine and Adrenocorticotropic Hormone have been mentioned in the context of this disorder. Affiliated tissues include adrenal cortex, cortex and pituitary, and related phenotypes are pigmented micronodular adrenocortical disease and plethora

Orphanet: 58 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).

Disease Ontology: 11 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 102)
# Related Disease Score Top Affiliating Genes
1 acth-independent cushing syndrome 32.4 PRKAR1A PRKACA PDE8B PDE11A GNAS ARMC5
2 acth-independent macronodular adrenal hyperplasia 31.1 PRKX PRKAR2B PRKAR1A POMC PDE8B PDE11A
3 adenoma 31.1 PRKAR1A POMC MEN1 MC2R GNAS CYP11B1
4 carney complex variant 31.1 PRKX PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
5 multiple endocrine neoplasia 31.0 PRKAR1A POMC MEN1 GNAS
6 pituitary adenoma 30.9 PRKAR1A POMC MEN1 GNAS
7 adrenal cortical adenoma 30.9 PRKAR1A POMC MIR483 MEN1 MC2R CYP11B1
8 pituitary-dependent cushing's disease 30.7 POMC MC2R
9 acth-secreting pituitary adenoma 30.7 PRKAR1A POMC MEN1
10 prolactinoma 30.5 PRKAR1A POMC MEN1 GNAS
11 lipoid congenital adrenal hyperplasia 30.5 POMC MC2R CYP11B1 ARMC5
12 conn's syndrome 30.3 PRKAR1B PRKAR1A PRKACB PRKACA POMC PDE8B
13 adrenal adenoma 30.2 PRKAR1A POMC MIR483 MEN1 MC2R KCNJ5
14 mccune-albright syndrome 30.1 PRKAR1A PRKACB POMC PDE8B PDE11A MEN1
15 adrenal cortical carcinoma 29.6 PRKAR1A POMC PDE8B PDE11A MIR483 MEN1
16 pigmented nodular adrenocortical disease, primary, 1 11.7
17 pigmented nodular adrenocortical disease, primary, 2 11.6
18 pigmented nodular adrenocortical disease, primary, 3 11.5
19 pigmented nodular adrenocortical disease, primary, 4 11.5
20 carney complex, type 1 10.6
21 lentigines 10.6
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
23 amenorrhea 10.4
24 testicular cancer 10.4
25 acne 10.4
26 pigmentation anomaly of the skin 10.4
27 acute adrenal insufficiency 10.4
28 acth-independent macronodular adrenal hyperplasia 1 10.4 POMC GNAS
29 diencephalic neoplasm 10.3 PDE8B PDE11A ARMC5
30 hypothalamic neoplasm 10.3 PDE8B PDE11A ARMC5
31 waterhouse-friderichsen syndrome 10.3 POMC MC2R
32 prolactin producing pituitary tumor 10.3 POMC MEN1
33 pseudohypoparathyroidism, type ia 10.3 PRKAR1A POMC GNAS
34 premature ovarian failure 7 10.3
35 acth-independent macronodular adrenal hyperplasia 2 10.3
36 neurilemmoma 10.3
37 nelson syndrome 10.3
38 corticosteroid-binding globulin deficiency 10.3 POMC MC2R
39 pituitary infarct 10.3 POMC MEN1
40 acrodysostosis 10.3 PRKAR2B PRKAR1A GNAS
41 dowling-degos disease 1 10.3 POMC GNAS
42 multiple endocrine neoplasia, type iv 10.3 PRKAR1A MEN1 GNAS
43 dicer1 syndrome 10.3 PRKAR1A MEN1 GNAS
44 hypertension and brachydactyly syndrome 10.3 PRKAR1A GNAS
45 adrenal rest tumor 10.3 POMC MC2R CYP11B1
46 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.3 POMC MC2R CYP11B1
47 46,xy sex reversal 10.3 POMC MC2R CYP11B1
48 lissencephaly, x-linked, 2 10.3 PRKAR1A MEN1 GNAS
49 steroid inherited metabolic disorder 10.3 POMC MC2R CYP11B1
50 parathyroid adenoma 10.3 PRKAR1A MEN1 GNAS

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 30 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pigmented micronodular adrenocortical disease 58 30 Obligate (100%) Obligate (100%)
HP:0001580
2 plethora 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001050
3 moon facies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0500011
4 decreased circulating acth level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002920
5 emotional lability 58 30 Frequent (33%) Frequent (79-30%)
HP:0000712
6 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
7 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
8 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000939
9 growth delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001510
10 nephrolithiasis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000787
11 hyperlipidemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003077
12 striae distensae 58 30 Frequent (33%) Frequent (79-30%)
HP:0001065
13 bruising susceptibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0000978
14 abnormal subcutaneous fat tissue distribution 58 30 Frequent (33%) Frequent (79-30%)
HP:0007552
15 hirsutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0001007
16 proximal muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003701
17 thin skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000963
18 irregular menstruation 58 30 Frequent (33%) Frequent (79-30%)
HP:0000858
19 adrenal hyperplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008221
20 increased circulating cortisol level 58 30 Frequent (33%) Frequent (79-30%)
HP:0003118
21 paradoxical increased cortisol secretion on dexamethasone suppression test 58 30 Frequent (33%) Frequent (79-30%)
HP:0003466
22 increased urinary cortisol level 58 30 Frequent (33%) Frequent (79-30%)
HP:0012030
23 proximal amyotrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007126
24 abdominal obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0012743
25 dorsocervical fat pad 58 30 Frequent (33%) Frequent (79-30%)
HP:0025383
26 abnormal libido 58 30 Frequent (33%) Frequent (79-30%)
HP:0031845
27 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005978
28 acne 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001061
29 hepatic steatosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001397
30 elevated hepatic transaminase 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002910
31 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
32 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002354
33 testicular neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010788
34 increased susceptibility to fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002659
35 spotty hyperpigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005585
36 fibroadenoma of the breast 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010619
37 psychotic episodes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000725
38 pituitary adenoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002893
39 cardiac myxoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011672
40 cutaneous myxoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030428
41 mania 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100754
42 diabetes mellitus 58 Frequent (79-30%)
43 behavioral abnormality 58 Frequent (79-30%)
44 cognitive impairment 58 Very rare (<4-1%)
45 glucose intolerance 58 Frequent (79-30%)
46 increased body weight 58 Occasional (29-5%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.17 PRKACA PRKAR1A PRKAR1B PRKX PRKACB
2 Decreased viability GR00221-A-2 10.17 PRKACA PRKAR1A PRKAR1B
3 Decreased viability GR00221-A-3 10.17 PRKACA PRKAR1A PRKAR1B PRKX
4 Decreased viability GR00221-A-4 10.17 PRKACA PRKAR1A PRKX
5 Decreased viability GR00402-S-2 10.17 PRKACA PRKX
6 Decreased viability after gemcitabine stimulation GR00107-A-2 9.33 PRKACB PRKAR1A PRKAR2B
7 Reduced mammosphere formation GR00396-S 9.32 ATP1A1 ATP1A4 CYP11B1 GNAS KCNJ5 MC2R
8 Increased cell migration GR00055-A-1 9.26 PRKACA
9 Increased cell migration GR00055-A-3 9.26 PRKACA

MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.5 CYP11B1 GNAS MC2R POMC PRKACA PRKAR1A
2 behavior/neurological MP:0005386 9.44 ATP1A1 ATP2B3 CYP11B1 GNAS MC2R MEN1

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
Racepinephrine Approved, Vet_approved Phase 2 51-43-4, 329-65-7 838 5816
2 Adrenocorticotropic Hormone Phase 2
3 Epinephryl borate 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 Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions Completed NCT00001452
3 Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC). Completed NCT00668291

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 28

Anatomical Context for Primary Pigmented Nodular Adrenocortical Disease

Organs/tissues related to Primary Pigmented Nodular Adrenocortical Disease:

MalaCards : Adrenal Cortex, Cortex, Pituitary, Breast, Skin, Adrenal Gland

Publications for Primary Pigmented Nodular Adrenocortical Disease

Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50) (show all 249)
# Title Authors PMID Year
1
Treatment of Primary Pigmented Nodular Adrenocortical Disease. 62
36130700 2022
2
Unilateral or bilateral adrenalectomy in PPNAD: six cases from a single family followed up over 40 years. 62
35925470 2022
3
Functional characteristics and research trends of PDE11A in human diseases (Review). 62
35929507 2022
4
Phenotypic Variability in a Family with Carney Complex Accompanied by a Novel Mutation Involving PRKAR1A. 62
35732416 2022
5
Primary pigmented nodular adrenal disease presenting as hypertensive crisis. 62
35649622 2022
6
Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature. 62
35003466 2022
7
Clinical Spectrum of Adrenal Cushing's Syndrome and the Caution for Interpretation of Adrenocorticotrophic Hormone: A Single-Center Experience. 62
35130566 2022
8
Carney Complex Complicated with Primary Pigmented Nodular Adrenocortical Disease without Cushing's Syndrome Recurrence for Five Years after Unilateral Adrenalectomy. 62
35034934 2022
9
Cushing´s syndrome due to bilateral adrenal cortical disease: Bilateral macronodular adrenal cortical disease and bilateral micronodular adrenal cortical disease. 62
35992106 2022
10
A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma. 62
33939912 2021
11
Dermatological and endocrine elements in Carney complex (Review). 62
34630667 2021
12
Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment. 62
34680514 2021
13
Insulin-like growth factor 2 (IGF2) expression in adrenocortical disease due to PRKAR1A mutations compared to other benign adrenal tumors. 62
33420948 2021
14
First Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome. 62
33644619 2021
15
MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. 62
33444222 2021
16
Role of unilateral adrenalectomy in bilateral adrenal hyperplasias with Cushing's syndrome. 62
33637447 2021
17
Predicting the risk of cardiac myxoma in Carney complex. 62
32893266 2021
18
PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A. 62
33055300 2020
19
c-KIT oncogene expression in PRKAR1A-mutant adrenal cortex. 62
32738126 2020
20
Cushing's syndrome in early infancy due to isolated sporadic bilateral micronodular adrenocortical disease associated with myosin heavy chain 8 mutation: diagnostic challenges, too many! 62
33109698 2020
21
Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome. 62
32783015 2020
22
ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome. 62
32638579 2020
23
Update of Genetic and Molecular Causes of Adrenocortical Hyperplasias Causing Cushing Syndrome. 62
32097969 2020
24
PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE (PPNAD) PRESENTING AS CUSHING SYNDROME IN A CHILD AND REVIEW OF LITERATURE. 62
33363661 2020
25
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma. 62
32249909 2020
26
Update on primary micronodular bilateral adrenocortical diseases. 62
32209819 2020
27
Adrenocortical hyperplasia: A multifaceted disease. 62
32115357 2020
28
Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up. 62
31912137 2020
29
Link between steroidogenesis, the cell cycle, and PKA in adrenocortical tumor cells. 62
31678420 2020
30
Corticotropinoma as the underlying cause of intermittent Cushing's syndrome in a patient previously diagnosed with primary pigmented nodular adrenocortical disease. 62
32293705 2020
31
A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease. 62
31996203 2020
32
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels. 62
31074783 2019
33
Ultrasonographic Findings of 1385 Adrenal Masses: A Retrospective Study of 1319 Benign and 66 Malignant Masses. 62
29194699 2019
34
Corrigendum to: Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. 62
31730532 2019
35
Adrenal tumors: when to search for a germline abnormality? 62
30985498 2019
36
Bilateral adrenocortical adenomas causing adrenocorticotropic hormone-independent Cushing's syndrome: A case report and review of the literature. 62
31119141 2019
37
Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. 62
30875328 2019
38
Outcomes of Bilateral Adrenalectomy in Cushing's Syndrome. 62
31161102 2019
39
Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation. 62
30897549 2019
40
Carney Complex. 62
30428497 2019
41
Cyclic Cushing's syndrome caused by neuroendocrine tumor: a case report. 62
30568069 2019
42
Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report. 62
30699069 2019
43
A case of autonomous cortisol secretion in a patient with subclinical Cushing's syndrome, GNAS mutation, and paradoxical cortisol response to dexamethasone. 62
30670014 2019
44
Unilateral Adrenalectomy Could Be a Valid Option for Primary Nodular Adrenal Disease: Evidence From Twins. 62
30591956 2019
45
Demographic Characteristics, Etiology, and Comorbidities of Patients with Cushing's Syndrome: A 10-Year Retrospective Study at a Large General Hospital in China. 62
30915114 2019
46
Factitious Cushing's Syndrome: A Diagnosis to Consider When Evaluating Hypercortisolism. 62
30886602 2019
47
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. 62
30129786 2018
48
Carney Syndrome Presented as a Pathological Spine Fracture in a 35-Year-Old Male. 62
30442879 2018
49
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex. 62
29318463 2018
50
Genetics of micronodular adrenal hyperplasia and Carney complex. 62
30093212 2018

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 70)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 PRKX PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
2 13.85 GNAS MC2R MEN1 PDE11A PDE8B POMC
3
Show member pathways
13.65 GNAS MC2R PDE11A PDE8B POMC PRKACA
4
Show member pathways
13.47 ATP1A1 ATP1A4 ATP2B3 GNAS PRKACA PRKACB
5
Show member pathways
13.36 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA PDE11A
6
Show member pathways
13.35 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
7
Show member pathways
13.33 GNAS PDE8B PRKACA PRKACB PRKAR1A PRKAR1B
8
Show member pathways
13.27 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
9
Show member pathways
13.19 KCNJ5 PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2B
10
Show member pathways
13.09 PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2B PRKX
11
Show member pathways
13.08 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
12
Show member pathways
13.07 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
13
Show member pathways
12.95 PRKX PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
14
Show member pathways
12.94 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
15
Show member pathways
12.92 PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2B
16
Show member pathways
12.92 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
17
Show member pathways
12.85 PRKX PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
18
Show member pathways
12.79 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
19
Show member pathways
12.77 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
20
Show member pathways
12.77 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
21
Show member pathways
12.75 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
22
Show member pathways
12.73 PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2B
23
Show member pathways
12.73 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
24
Show member pathways
12.71 GNAS PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2B
25
Show member pathways
12.7 GNAS KCNJ5 POMC PRKACA PRKACB PRKAR1A
26
Show member pathways
12.65 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
27
Show member pathways
12.61 GNAS PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2B
28 12.57 PRKAR1B PRKAR1A PRKACA POMC
29
Show member pathways
12.55 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
30
Show member pathways
12.52 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
31
Show member pathways
12.46 PRKX PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
32 12.45 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA KCNJ5
33
Show member pathways
12.43 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
34
Show member pathways
12.41 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
35
Show member pathways
12.4 ATP1A4 ATP2B3 GNAS KCNJ5 PRKACA PRKACB
36
Show member pathways
12.3 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
37
Show member pathways
12.3 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
38 12.29 GNAS PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2B
39 12.28 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
40
Show member pathways
12.26 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
41
Show member pathways
12.15 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
42
Show member pathways
12.09 PRKAR2B PRKAR1B PRKAR1A PRKACA GNAS
43
Show member pathways
12.04 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
44 12.02 PRKAR1B PRKAR1A PRKACA
45
Show member pathways
11.96 PRKACB PRKACA GNAS
46
Show member pathways
11.91 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
47 11.88 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
48 11.87 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA GNAS
49 11.86 POMC GNAS CYP11B1
50 11.84 PRKAR2B PRKAR1B PRKAR1A 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 ciliary base GO:0097546 9.65 PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
2 cAMP-dependent protein kinase complex GO:0005952 9.4 PRKX PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
3 nucleotide-activated protein kinase complex GO:0031588 9.33 PRKAR1A PRKACA

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

# Name GO ID Score Top Affiliating Genes
1 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.71 ATP1A4 ATP1A1
2 regulation of protein processing GO:0070613 9.67 PRKACB PRKACA
3 potassium ion import across plasma membrane GO:1990573 9.63 KCNJ5 ATP1A4 ATP1A1
4 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.56 PRKACB PRKACA
5 regulation of protein phosphorylation GO:0001932 9.5 PRKAR2B PRKAR1B PRKAR1A
6 mesoderm formation GO:0001707 9.43 PRKAR1A PRKACA ARMC5
7 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.1 PRKAR2B PRKAR1B PRKAR1A

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

# Name GO ID Score Top Affiliating Genes
1 cAMP binding GO:0030552 9.88 PRKAR2B PRKAR1B PRKAR1A
2 ATPase-coupled monoatomic cation transmembrane transporter activity GO:0019829 9.85 ATP2B3 ATP1A4 ATP1A1
3 protein kinase A catalytic subunit binding GO:0034236 9.8 PRKAR2B PRKAR1B PRKAR1A
4 AMP-activated protein kinase activity GO:0004679 9.78 PRKACB PRKACA
5 P-type sodium:potassium-exchanging transporter activity GO:0005391 9.76 ATP1A4 ATP1A1
6 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.73 PRKAR1A PRKAR1B PRKAR2B
7 nucleotide binding GO:0000166 9.65 PRKX PRKAR2B PRKAR1B PRKAR1A PRKACB PRKACA
8 cAMP-dependent protein kinase activity GO:0004691 9.63 PRKX PRKACB PRKACA
9 P-type potassium transmembrane transporter activity GO:0008556 9.43 ATP1A4 ATP1A1
10 cAMP-dependent protein kinase regulator activity GO:0008603 9.1 PRKAR2B PRKAR1B PRKAR1A

Sources for Primary Pigmented Nodular Adrenocortical Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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