PPNAD
MCID: PRM051
MIFTS: 55

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 20 58 29 15
Ppnad 20 58
Pigmented Nodular Adrenocortical Disease, Primary, 2 44
Pigmented Nodular Adrenocortical Disease, Primary, 1 44
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

GARD : 20 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 pigmented nodular adrenocortical disease, primary, 1 and pigmented nodular adrenocortical disease, primary, 2. An important gene associated with Primary Pigmented Nodular Adrenocortical Disease is PDE11A (Phosphodiesterase 11A), and among its related pathways/superpathways are Signaling by GPCR and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include pituitary, cortex and adrenal 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 : 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 237)
# Related Disease Score Top Affiliating Genes
1 pigmented nodular adrenocortical disease, primary, 1 33.3 PRKAR1A FAM20A
2 pigmented nodular adrenocortical disease, primary, 2 33.3 PDE11A-AS1 PDE11A
3 acth-independent macronodular adrenal hyperplasia 32.5 PRKAR1A POMC PDE8B PDE11A GNAS
4 carney complex variant 32.1 PRKAR1A PRKACG PRKACB POMC PDE8B PDE11A
5 acth-independent cushing syndrome 31.3 PRKAR1A PRKACA PDE8B PDE11A GNAS
6 adenoma 31.3 SYP PRKAR1A POMC GNAS CTNNB1 CHGA
7 carney complex, type 1 31.3 PRKAR1A FAM20A
8 adrenal adenoma 31.2 PRKAR1A POMC GNAS
9 adrenal cortical adenoma 31.2 SYP PRKAR1A POMC CTNNB1 CHGA
10 conn's syndrome 31.1 PRKAR1A POMC PDE11A NR3C1 GNAS CNC2
11 multiple endocrine neoplasia 31.1 PRKAR1A POMC GNAS CNC2 CHGA
12 pituitary adenoma 30.9 PRKAR1A POMC GNAS CHGA
13 adrenal cortical carcinoma 30.6 SYP PRKAR1A POMC GNAS CYP19A1 CTNNB1
14 mccune-albright syndrome 30.6 PRKAR1A PDE8B PDE11A GNAS CYP19A1
15 pituitary adenoma, prolactin-secreting 30.4 SSTR1 PRKAR1A POMC GNAS ESR2 CHGA
16 pigmented nodular adrenocortical disease, primary, 3 11.7
17 pigmented nodular adrenocortical disease, primary, 4 11.7
18 lentigines 10.5
19 breast ductal adenoma 10.5 PRKAR1A PDE11A
20 lung meningioma 10.5 SYP PGR
21 acth-independent macronodular adrenal hyperplasia 1 10.5 POMC GNAS
22 liver adenomatosis 10.5 PGR CTNNB1
23 glycogen-rich clear cell breast carcinoma 10.5 SYP PGR
24 alzheimer disease 16 10.5 POMC NR3C1
25 primary hepatic neuroendocrine carcinoma 10.4 SYP CHGA
26 vaginal glandular tumor 10.4 PGR CHGA
27 auditory system benign neoplasm 10.4 SYP CHGA
28 anal neuroendocrine tumor 10.4 SYP NCAM1
29 breast adenoma 10.4 PRKAR1A PGR PDE11A
30 small cell carcinoma of the bladder 10.4 SYP CHGA
31 auditory system cancer 10.4 SYP CHGA
32 acinar cell cystadenocarcinoma 10.4 SYP CHGA
33 vulvar eccrine porocarcinoma 10.4 SYP CHGA
34 lung combined type small cell carcinoma 10.4 SYP NCAM1
35 cauda equina neoplasm 10.4 SYP CHGA
36 gastrointestinal neuroendocrine benign tumor 10.4 SYP CHGA
37 subserous uterine fibroid 10.4 PGR CYP19A1
38 ampulla of vater neoplasm 10.4 SYP CHGA
39 appendix carcinoid tumor 10.4 SYP CHGA
40 carotid body cancer 10.4 SYP CHGA
41 vaginal tubulovillous adenoma 10.4 SYP CHGA
42 diffuse peritoneal leiomyomatosis 10.4 PGR CYP19A1
43 mixed ductal-endocrine carcinoma 10.4 SYP CHGA
44 middle ear adenoma 10.4 SYP CHGA
45 adult type testicular granulosa cell tumor 10.4 PGR NCAM1
46 duodenal benign neoplasm 10.4 SYP CHGA
47 thoracic benign neoplasm 10.4 PRKAR1A PGR ESR2
48 premenstrual tension 10.4 POMC PGR
49 breast benign neoplasm 10.4 PRKAR1A PGR ESR2
50 hypoganglionosis 10.4 SYP NCAM1

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 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
9 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
10 striae distensae 58 31 frequent (33%) Frequent (79-30%) HP:0001065
11 slender build 58 31 frequent (33%) Frequent (79-30%) HP:0001533
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 9.65 PRKACB PRKACG PRKAR1A
2 Decreased cell migration GR00055-A-2 9.65 NCAM1
3 Decreased cell migration GR00055-A-3 9.65 NCAM1
4 Decreased viability after gemcitabine stimulation GR00107-A-2 9.33 PRKACB PRKACG PRKAR1A
5 Reduced mammosphere formation GR00396-S 9.17 CHGA GNAS NCAM1 NR3C1 POMC PRKACA
6 Increased cell death in HCT116 cells GR00103-A-0 8.65 CTNNB1

MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 CTNNB1 CYP19A1 ESR2 GNAS NCAM1 NR3C1
2 homeostasis/metabolism MP:0005376 10.25 CHGA CTNNB1 CYP19A1 ESR2 GNAS NR3C1
3 cardiovascular system MP:0005385 10.22 CHGA CTNNB1 CYP19A1 ESR2 FAM20A GNAS
4 endocrine/exocrine gland MP:0005379 10.2 CHGA CTNNB1 CYP19A1 ESR2 GNAS NR3C1
5 nervous system MP:0003631 10.07 CHGA CTNNB1 CYP19A1 ESR2 GNAS NCAM1
6 liver/biliary system MP:0005370 10.01 CTNNB1 CYP19A1 ESR2 GNAS NR3C1 POMC
7 muscle MP:0005369 9.97 CHGA CTNNB1 CYP19A1 ESR2 GNAS NR3C1
8 neoplasm MP:0002006 9.87 CTNNB1 ESR2 GNAS PGR POMC PRKACA
9 no phenotypic analysis MP:0003012 9.7 CHGA CTNNB1 ESR2 GNAS NR3C1 PGR
10 renal/urinary system MP:0005367 9.65 CHGA CTNNB1 CYP19A1 ESR2 FAM20A GNAS
11 skeleton MP:0005390 9.32 CTNNB1 CYP19A1 ESR2 FAM20A GNAS NR3C1

Drugs & Therapeutics for Primary Pigmented Nodular Adrenocortical Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions Completed NCT00001452
2 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 29

Anatomical Context for Primary Pigmented Nodular Adrenocortical Disease

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

40
Pituitary, Cortex, Adrenal Cortex, Adrenal Gland, Skeletal Muscle, Skin

Publications for Primary Pigmented Nodular Adrenocortical Disease

Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50) (show all 237)
# Title Authors PMID Year
1
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 6 61
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
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. 6
24747643 2014
4
Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. 6
24700472 2014
5
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 6
24855271 2014
6
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. 6
24571724 2014
7
Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. 6
18272904 2008
8
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. 6
16767104 2006
9
MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. 61
33444222 2021
10
Predicting the risk of cardiac myxoma in Carney complex. 61
32893266 2021
11
Insulin-like growth factor 2 (IGF2) expression in adrenocortical disease due to PRKAR1A mutations compared to other benign adrenal tumors. 61
33420948 2021
12
PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A. 61
33055300 2020
13
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! 61
33109698 2020
14
c-KIT oncogene expression in PRKAR1A-mutant adrenal cortex. 61
32738126 2020
15
Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome. 61
32783015 2020
16
ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome. 61
32638579 2020
17
Update of Genetic and Molecular Causes of Adrenocortical Hyperplasias Causing Cushing Syndrome. 61
32097969 2020
18
PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE (PPNAD) PRESENTING AS CUSHING SYNDROME IN A CHILD AND REVIEW OF LITERATURE. 61
33363661 2020
19
Update on primary micronodular bilateral adrenocortical diseases. 61
32209819 2020
20
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma. 61
32249909 2020
21
Adrenocortical hyperplasia: A multifaceted disease. 61
32115357 2020
22
Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up. 61
31912137 2020
23
Link between steroidogenesis, the cell cycle, and PKA in adrenocortical tumor cells. 61
31678420 2020
24
A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease. 61
31996203 2020
25
Corticotropinoma as the underlying cause of intermittent Cushing's syndrome in a patient previously diagnosed with primary pigmented nodular adrenocortical disease. 61
32293705 2020
26
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels. 61
31074783 2019
27
Corrigendum to: Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. 61
31730532 2019
28
Ultrasonographic Findings of 1385 Adrenal Masses: A Retrospective Study of 1319 Benign and 66 Malignant Masses. 61
29194699 2019
29
Adrenal tumors: when to search for a germline abnormality? 61
30985498 2019
30
Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. 61
30875328 2019
31
Bilateral adrenocortical adenomas causing adrenocorticotropic hormone-independent Cushing's syndrome: A case report and review of the literature. 61
31119141 2019
32
Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation. 61
30897549 2019
33
Outcomes of Bilateral Adrenalectomy in Cushing's Syndrome. 61
31161102 2019
34
Cyclic Cushing's syndrome caused by neuroendocrine tumor: a case report. 61
30568069 2019
35
Carney Complex. 61
30428497 2019
36
Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report. 61
30699069 2019
37
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
38
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
39
Factitious Cushing's Syndrome: A Diagnosis to Consider When Evaluating Hypercortisolism. 61
30886602 2019
40
Unilateral Adrenalectomy Could Be a Valid Option for Primary Nodular Adrenal Disease: Evidence From Twins. 61
30591956 2019
41
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
42
Carney Syndrome Presented as a Pathological Spine Fracture in a 35-Year-Old Male. 61
30442879 2018
43
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex. 61
29318463 2018
44
Genetics of micronodular adrenal hyperplasia and Carney complex. 61
30093212 2018
45
Genetics of tumors of the adrenal cortex. 61
29233839 2018
46
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series. 61
29909407 2018
47
Failure to Thrive in the Context of Carney Complex. 61
29161691 2018
48
Carney complex review: Genetic features. 61
29162369 2018
49
Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review. 61
30259502 2018
50
Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. 61
29094256 2018

Variations for Primary Pigmented Nodular Adrenocortical Disease

ClinVar genetic disease variations for Primary Pigmented Nodular Adrenocortical Disease:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDE11A NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) SNV Pathogenic 5286 rs76308115 2:178879181-178879181 2:178014454-178014454
2 PDE8B NM_001029851.3(PDE8B):c.876+4525A>C SNV Pathogenic 6390 rs121918360 5:76645281-76645281 5:77349456-77349456
3 PRKAR1A NM_212472.2(PRKAR1A):c.-37G>A SNV Pathogenic 12670 rs587776773 17:66508690-66508690 17:68512549-68512549
4 PRKAR1A PRKAR1A, 16-BP DEL Deletion Pathogenic 12671
5 PRKAR1A NM_212472.2(PRKAR1A):c.709-7_709-2del Microsatellite Pathogenic 12675 rs281864801 17:66523965-66523970 17:68527824-68527829
6 PRKACA NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) SNV Pathogenic 91945 rs386352352 19:14208416-14208416 19:14097604-14097604
7 PRKACA NM_002730.4(PRKACA):c.597_599dup (p.Cys200_Gly201insTrp) Duplication Pathogenic 162471 rs724160013 19:14208434-14208436 19:14097621-14097622
8 PDE11A NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) SNV Likely pathogenic 225433 rs771254375 2:178592878-178592878 2:177728150-177728150
9 PDE11A NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) SNV Likely pathogenic 225434 rs188985665 2:178879115-178879115 2:178014388-178014388
10 PDE11A-AS1 NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) Deletion Likely pathogenic 225431 rs769235876 2:178562133-178562137 2:177697405-177697409
11 FAM20A NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys) SNV Likely pathogenic 433148 rs1555815121 17:66526447-66526447 17:68530306-68530306
12 PDE11A NM_001077197.1(PDE11A):c.20_21del (p.Arg7fs) Deletion Likely pathogenic 225432 rs202117698 2:178969170-178969171 2:178104443-178104444
13 PDE11A NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys) SNV Uncertain significance 801831 rs77597060 2:178592456-178592456 2:177727728-177727728
14 PDE11A NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr) SNV Uncertain significance 725066 rs138427178 2:178681638-178681638 2:177816911-177816911
15 PDE11A NM_016953.4(PDE11A):c.1660del (p.Cys554fs) Deletion Uncertain significance 725065 rs573163079 2:178681633-178681633 2:177816906-177816906
16 PDE11A Duplication Uncertain significance 560139 2:178562111-178577218
17 DSC2 NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) SNV Uncertain significance 617896 rs794728075 18:28662344-28662344 18:31082378-31082378
18 PDE11A NM_016953.4(PDE11A):c.171del (p.Thr58fs) Deletion Uncertain significance 208602 rs529789124 2:178936994-178936994 2:178072267-178072267

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 84)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.24 SSTR1 PRKAR1A PRKACG PRKACB PRKACA POMC
2
Show member pathways
13.34 PRKAR1A PRKACG PRKACB PRKACA GNAS ESR2
3
Show member pathways
13.16 PRKAR1A PRKACG PRKACB PRKACA POMC PDE8B
4
Show member pathways
13.1 PRKAR1A PRKACG PRKACB PRKACA POMC GNAS
5
Show member pathways
12.92 PRKAR1A PRKACG PRKACB PRKACA GNAS
6 12.91 PRKACG PRKACB PRKACA GNAS ESR2 CTNNB1
7
Show member pathways
12.9 PRKAR1A PRKACG PRKACB PRKACA GNAS
8
Show member pathways
12.88 PRKAR1A PRKACG PRKACB PRKACA GNAS CTNNB1
9
Show member pathways
12.88 PRKACG PRKACB PRKACA POMC PDE8B PDE11A
10
Show member pathways
12.87 PRKACG PRKACB PRKACA NCAM1 GNAS
11
Show member pathways
12.79 PRKACG PRKACB PRKACA GNAS CTNNB1
12
Show member pathways
12.74 PRKACG PRKACB PRKACA GNAS ESR2
13
Show member pathways
12.73 PRKAR1A PRKACG PRKACB PRKACA GNAS
14
Show member pathways
12.72 PRKAR1A PRKACG PRKACB PRKACA GNAS
15
Show member pathways
12.7 PRKACG PRKACB PRKACA GNAS CTNNB1
16
Show member pathways
12.66 PRKAR1A PRKACG PRKACB PRKACA GNAS
17
Show member pathways
12.64 PRKAR1A PRKACG PRKACB PRKACA GNAS
18 12.64 SYP SSTR1 PRKAR1A PRKACA POMC NCAM1
19
Show member pathways
12.62 PRKACG PRKACB PRKACA PDE8B PDE11A GNAS
20
Show member pathways
12.59 PRKAR1A PRKACG PRKACB PRKACA POMC GNAS
21
Show member pathways
12.57 SSTR1 PRKACG PRKACB PRKACA POMC PGR
22
Show member pathways
12.52 PRKACG PRKACB PRKACA GNAS
23
Show member pathways
12.51 PRKACG PRKACB PRKACA GNAS
24
Show member pathways
12.51 PRKAR1A PRKACG PRKACB PRKACA GNAS
25
Show member pathways
12.49 PRKACG PRKACB PRKACA GNAS
26
Show member pathways
12.48 PRKAR1A PRKACG PRKACB PRKACA
27
Show member pathways
12.45 PRKAR1A PRKACG PRKACB PRKACA GNAS
28
Show member pathways
12.44 PRKAR1A PRKACG PRKACB PRKACA GNAS
29 12.43 PRKACG PRKACB PRKACA GNAS
30 12.43 PRKAR1A PRKACG PRKACB PRKACA GNAS
31
Show member pathways
12.41 PRKACG PRKACB PRKACA PGR
32
Show member pathways
12.39 PRKAR1A PRKACG PRKACB PRKACA CTNNB1
33
Show member pathways
12.37 PRKACG PRKACB PRKACA CTNNB1
34 12.37 SSTR1 PRKACG PRKACB PRKACA POMC GNAS
35 12.36 PRKACG PRKACB PRKACA CTNNB1
36
Show member pathways
12.34 PRKAR1A PRKACG PRKACB PRKACA GNAS ESR2
37
Show member pathways
12.31 PRKACG PRKACB PRKACA GNAS
38
Show member pathways
12.27 PRKAR1A PRKACG PRKACB PRKACA GNAS
39
Show member pathways
12.25 PRKAR1A PRKACG PRKACB PRKACA GNAS
40 12.24 PRKACG PRKACB PRKACA CTNNB1
41 12.23 PRKAR1A PRKACG PRKACB PRKACA
42 12.19 POMC PDE8B PDE11A GNAS
43 12.15 PRKAR1A PRKACG PRKACB PRKACA GNAS CTNNB1
44 12.11 PRKACG PRKACB PRKACA GNAS
45 12.1 PRKACG PRKACB PRKACA CTNNB1
46
Show member pathways
12.08 PRKACG PRKACB PRKACA GNAS
47 12.07 PRKACG PRKACB PRKACA GNAS
48
Show member pathways
12.04 PRKACG PRKACB PRKACA GNAS
49 12.02 PRKACG PRKACB PRKACA GNAS
50 12.02 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 perinuclear region of cytoplasm GO:0048471 9.63 SYP PRKACB PRKACA GNAS CTNNB1 CHGA
2 neuromuscular junction GO:0031594 9.43 SYP PRKAR1A PRKACA
3 nucleotide-activated protein kinase complex GO:0031588 9.32 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.11 SSTR1 PRKACB POMC PGR PDE8B PDE11A
2 G protein-coupled receptor signaling pathway GO:0007186 10.04 SSTR1 PRKACB PRKACA POMC PDE8B PDE11A
3 blood coagulation GO:0007596 9.78 PRKAR1A PRKACG PRKACB PRKACA
4 protein kinase A signaling GO:0010737 9.54 PRKACG PRKACB PRKACA
5 regulation of protein processing GO:0070613 9.51 PRKACB PRKACA
6 high-density lipoprotein particle assembly GO:0034380 9.5 PRKACG PRKACB PRKACA
7 activation of protein kinase A activity GO:0034199 9.46 PRKAR1A PRKACG PRKACB PRKACA
8 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.43 PRKACB PRKACA
9 intracellular steroid hormone receptor signaling pathway GO:0030518 9.43 PGR NR3C1 ESR2
10 hair follicle placode formation GO:0060789 9.4 GNAS CTNNB1
11 renal water homeostasis GO:0003091 9.35 PRKAR1A PRKACG PRKACB PRKACA GNAS
12 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 nuclear receptor activity GO:0004879 9.5 PGR NR3C1 ESR2
2 steroid binding GO:0005496 9.43 PGR NR3C1 ESR2
3 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 9.37 PDE8B PDE11A
4 protein kinase A regulatory subunit binding GO:0034237 9.33 PRKACG PRKACB PRKACA
5 AMP-activated protein kinase activity GO:0004679 9.13 PRKACG PRKACB PRKACA
6 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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