MCID: PRM051
MIFTS: 46

Primary Pigmented Nodular Adrenocortical Disease malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases categories

Aliases & Classifications for Primary Pigmented Nodular Adrenocortical Disease

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Sources:
36MeSH, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Primary Pigmented Nodular Adrenocortical Disease:

Name: Primary Pigmented Nodular Adrenocortical Disease 10 45 12 51
Ppnad 45 51
 
Pigmented Nodular Adrenocortical Disease, Primary, 2 36
Pigmented Nodular Adrenocortical Disease, Primary, 1 36


Classifications:



Characteristics (Orphanet epidemiological data):

51
primary pigmented nodular adrenocortical disease:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology10 DOID:0060280
Orphanet51 189439
ICD10 via Orphanet28 E24.8

Summaries for Primary Pigmented Nodular Adrenocortical Disease

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Disease Ontology:10 An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.

MalaCards based summary: Primary Pigmented Nodular Adrenocortical Disease, also known as ppnad, is related to connective tissue cancer and acth-independent macronodular adrenal hyperplasia, and has symptoms including hypercortisolism, abnormality of the genital system and diabetes mellitus. An important gene associated with Primary Pigmented Nodular Adrenocortical Disease is PRKAR1A (Protein Kinase, CAMP-Dependent, Regulatory, Type I, Alpha), and among its related pathways are Endocrine and other factor-regulated calcium reabsorption and G-protein signaling_Rap1A regulation pathway. Affiliated tissues include cortex, adrenal gland and adrenal cortex, and related mouse phenotypes are adipose tissue and skeleton.

Related Diseases for Primary Pigmented Nodular Adrenocortical Disease

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Diseases in the Primary Pigmented Nodular Adrenocortical Disease family:

Pigmented Nodular Adrenocortical Disease, Primary, 2 Pigmented Nodular Adrenocortical Disease, Primary, 3
Pigmented Nodular Adrenocortical Disease, Primary, 1 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 173)
idRelated DiseaseScoreTop Affiliating Genes
1connective tissue cancer31.0GNAS, SYP
2acth-independent macronodular adrenal hyperplasia30.8GNAS, PRKAR1A
3multiple endocrine neoplasia 130.6CHGA, GNAS, PRKAR1A
4pituitary gland disease30.6CHGA, GNAS, POMC
5adrenal gland hyperfunction29.8GNAS, NR3C1, PDE11A, PDE8B, POMC, PRKAR1A
6cushing's syndrome10.9
7adenoma10.7
8pigmented nodular adrenocortical disease, primary, 210.6
9pigmented nodular adrenocortical disease, primary, 310.6
10pigmented nodular adrenocortical disease, primary, 110.6
11carney complex variant10.5
12peutz-jeghers syndrome10.5
13pigmented nodular adrenocortical disease, primary, 410.5
14polyposis, juvenile intestinal10.5
15child syndrome10.5
16skin conditions10.5
17skin disease10.5
18spondylosis10.5
19adrenal carcinoma10.5
20adrenal gland disease10.5
21congenital heart disease10.5
22connective tissue benign neoplasm10.5
23connective tissue disease10.5
24endocrine gland cancer10.5
25heart cancer10.5
26pigmentation disease10.5
27thoracic cancer10.5
28skin pigmentation disorders10.5
29heart tumor10.5
30kid syndrome10.5
31multiple endocrine neoplasia10.5
32heart tumor of the child10.5
33adult heart tumor10.5
34hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.3
35coronary heart disease 210.3
36breast cancer10.3
37coronary artery disease10.3
38thyroid hormone resistance10.3
39coronary heart disease 510.3
40adult syndrome10.3
41testicular anomalies with or without congenital heart disease10.3
42multiple endocrine neoplasia iia10.3
43carney complex, type 110.3
44spinal and bulbar muscular atrophy of kennedy10.3
45coronary heart disease 310.3
46prepuce cancer10.3
47thyroid malformation10.3
48down syndrome10.3
49malignant growth hormone secreting neoplasm of pituitary10.3
50adrenal cortex disease10.3

Graphical network of the top 20 diseases related to Primary Pigmented Nodular Adrenocortical Disease:



Diseases related to primary pigmented nodular adrenocortical disease

Symptoms for Primary Pigmented Nodular Adrenocortical Disease

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Symptoms:

 51 (show all 15)
  • adrenal glands anomalies
  • cortico-adrenal hyperplasia/hypersecretion
  • striae
  • thin skin
  • chronic arterial hypertension
  • diabetes mellitus
  • late puberty/hypogonadism/hypogenitalism
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • truncal obesity
  • short stature/dwarfism/nanism
  • asthenia/fatigue/weakness
  • myopathy

HPO human phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

(show all 13)
id Description Frequency HPO Source Accession
1 hypercortisolism hallmark (90%) HP:0001578
2 abnormality of the genital system typical (50%) HP:0000078
3 diabetes mellitus typical (50%) HP:0000819
4 hypertension typical (50%) HP:0000822
5 thin skin typical (50%) HP:0000963
6 striae distensae typical (50%) HP:0001065
7 muscle weakness typical (50%) HP:0001324
8 truncal obesity typical (50%) HP:0001956
9 recurrent fractures typical (50%) HP:0002757
10 skeletal muscle atrophy typical (50%) HP:0003202
11 short stature typical (50%) HP:0004322
12 reduced bone mineral density typical (50%) HP:0004349
13 myopathy occasional (7.5%) HP:0003198

Drugs & Therapeutics for Primary Pigmented Nodular Adrenocortical Disease

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Drugs for Primary Pigmented Nodular Adrenocortical Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EpinephrineapprovedPhase 276851-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenaclick
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
Auvi-q
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine bitartrate
Epinephrine chloride
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr
Epipen Jr.
Epipen Jr. Auto-Injector
Epipen jr
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
 
Esphygmogenina
Exadrin
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
Primatene Mist Refill
Prime Asthma Relief
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
2RacepinephrinePhase 2768
3Epinephryl boratePhase 2768
4Adrenocorticotropic HormonePhase 2121

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Efficacy and Safety of Osilodrostat in Cushing's SyndromeRecruitingNCT02468193Phase 2
2Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney ComplexRecruitingNCT00001452
3Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)Active, not recruitingNCT00668291

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

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Anatomical Context for Primary Pigmented Nodular Adrenocortical Disease

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

33
Cortex, Adrenal gland, Adrenal cortex, Bone, Skin, Skeletal muscle, Pituitary

Animal Models for Primary Pigmented Nodular Adrenocortical Disease or affiliated genes

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MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2GNAS, NR3C1, POMC, PRKACA, PRKAR1A
2MP:00053908.6CTNNB1, GNAS, NR3C1, PRKACA, PRKACB, PRKAR1A
3MP:00053858.2CHGA, CTNNB1, GNAS, NR3C1, POMC, PRKACA
4MP:00053678.2CHGA, CTNNB1, GNAS, NR3C1, PDE8B, POMC
5MP:00053797.9CHGA, CTNNB1, GNAS, NR3C1, POMC, PRKACA
6MP:00053787.3CHGA, CTNNB1, GNAS, NCAM1, NR3C1, POMC
7MP:00053866.9CTNNB1, GNAS, NCAM1, NR3C1, PDE11A, POMC
8MP:00107686.8CHGA, CTNNB1, GNAS, NCAM1, NR3C1, POMC
9MP:00036316.2CTNNB1, GNAS, NCAM1, NR3C1, PDE11A, POMC

Publications for Primary Pigmented Nodular Adrenocortical Disease

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Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD). (26390100)
2015
2
mTOR pathway is activated by PKA in adrenocortical cells and participates in vivo to apoptosis resistance in primary pigmented nodular adrenocortical disease (PPNAD). (24865460)
2014
3
Does somatostatin have a role in the regulation of cortisol secretion in primary pigmented nodular adrenocortical disease (ppnad)? a clinical and in vitro investigation. (24512486)
2014
4
A rare case of familial Cushing's syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease. (24859511)
2014
5
A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease. (24978147)
2014
6
Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings. (24805858)
2014
7
Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. (23065993)
2013
8
An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other. (22785148)
2012
9
Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease--case presentation. (21932601)
2011
10
Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected. (20924687)
2011
11
A case of subclinical Cushing syndrome due to primary pigmented nodular adrenocortical disease associated with adrenocortical adenoma. (21442380)
2011
12
Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl. (21648292)
2011
13
Primary pigmented nodular adrenocortical disease. (21717412)
2011
14
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review. (20099223)
2010
15
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. (20190548)
2010
16
CT findings of primary pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome. (20489078)
2010
17
Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report. (20670433)
2010
18
Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. (19915019)
2010
19
MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling. (19351815)
2009
20
The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits. (19383776)
2009
21
Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. (18491255)
2008
22
Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease. (18508999)
2008
23
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). (18419788)
2008
24
Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A. (17280861)
2007
25
Primary pigmented nodular adrenocortical disease and Cushing's syndrome. (18209861)
2007
26
Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X). (17396442)
2007
27
Primary pigmented nodular adrenocortical disease with synaptophysin immunoreactivity in two thai children. (17624220)
2007
28
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. (16464939)
2006
29
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. (17322955)
2006
30
Primary pigmented nodular adrenocortical disease: report of 5 cases. (16701022)
2006
31
Bilateral adrenal Cushing's syndrome: macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease. (15850852)
2005
32
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? (15240590)
2004
33
Clinical and molecular genetics of primary pigmented nodular adrenocortical disease. (15761532)
2004
34
Primary pigmented nodular adrenocortical disease: paradoxical responses of cortisol secretion to dexamethasone occur in vitro and are associated with increased expression of the glucocorticoid receptor. (12915689)
2003
35
Carney complex, a familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: a case report. (12670039)
2002
36
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. (12213893)
2002
37
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. (10523219)
1999
38
Synaptophysin immunoreactivity in primary pigmented nodular adrenocortical disease: neuroendocrine properties of tumors associated with Carney complex. (10084605)
1999
39
Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy. (9100606)
1997
40
Relapse of Cushing's syndrome following the treatment of primary pigmented nodular adrenocortical disease by unilateral adrenalectomy. (8811225)
1996
41
Cushing's syndrome due to primary pigmented nodular adrenocortical disease--a case report reviews of the literature. (7626560)
1995
42
Use of a two-site immunoradiometric assay to resolve a factitious elevation of ACTH in primary pigmented nodular adrenocortical disease. (8186827)
1994
43
Bilateral primary pigmented nodular adrenocortical disease--a case of report describing a rare cause of Cushing's syndrome. (7786440)
1994
44
Carney's complex with primary pigmented nodular adrenocortical disease and spotty pigmentations. (8495049)
1993
45
Carney's complex of primary pigmented nodular adrenocortical disease and pigmentous and myxomatous lesions. (2711295)
1989
46
Primary pigmented nodular adrenocortical disease. A light and electron microscopic study of eight cases. (2679153)
1989
47
Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50 years later. (2586567)
1989
48
Cushing's syndrome resulting from primary pigmented nodular adrenocortical disease. (3752018)
1986
49
Primary pigmented nodular adrenocortical disease: diagnosis and management. (3787476)
1986
50
Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome. (6329005)
1984

Variations for Primary Pigmented Nodular Adrenocortical Disease

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Clinvar genetic disease variations for Primary Pigmented Nodular Adrenocortical Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PRKAR1ANM_002734.4(PRKAR1A): c.-7+1G> Asingle nucleotide variantPathogenicrs587776773GRCh37Chr 17, 66508690: 66508690
2PRKAR1APRKAR1A, 16-BP DELdeletionPathogenic
3PRKAR1ANM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTAdeletionPathogenicrs281864801GRCh37Chr 17, 66523974: 66523979
4PDE11ANM_001077197.1(PDE11A): c.169C> T (p.Arg57Ter)single nucleotide variantPathogenicrs76308115GRCh37Chr 2, 178879181: 178879181
5PDE11APDE11A, 1-BP DEL, 171TdeletionPathogenic
6PDE8BNM_003719.3(PDE8B): c.914A> C (p.His305Pro)single nucleotide variantPathogenicrs121918360GRCh37Chr 5, 76645281: 76645281

Expression for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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Search GEO for disease gene expression data for Primary Pigmented Nodular Adrenocortical Disease.

Pathways for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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

(show top 50)    (show all 83)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3GNAS, PRKACA, PRKACB
29.3GNAS, PRKACA, PRKACB
39.3GNAS, PRKACA, PRKACB
4
Show member pathways
9.0GNAS, POMC, PRKACA, PRKACB
5
Show member pathways
9.0GNAS, PRKACA, PRKAR1A, PRKAR1B
68.8NCAM1, PRKACA, PRKACB
78.8CHGA, GNAS, PRKACA, PRKACB
88.8CHGA, GNAS, PRKACA, PRKACB
98.8PRKACA, PRKACB, PRKAR1A, PRKAR1B
108.8PRKACA, PRKACB, PRKAR1A, PRKAR1B
118.8PRKACA, PRKACB, PRKAR1A, PRKAR1B
128.8PRKACA, PRKACB, PRKAR1A, PRKAR1B
138.8PRKACA, PRKACB, PRKAR1A, PRKAR1B
148.8PRKACA, PRKACB, PRKAR1A, PRKAR1B
158.8PRKACA, PRKACB, PRKAR1A, PRKAR1B
16
Apoptosis (KEGG)
Show member pathways
8.8PRKACA, PRKACB, PRKAR1A, PRKAR1B
178.7CHGA, GNAS, PDE11A, PDE8B, POMC
188.7CHGA, NR3C1, PRKACA, PRKACB
19
Show member pathways
8.5CTNNB1, GNAS, POMC, PRKACA, PRKACB
208.5POMC, PRKACA, PRKACB, PRKAR1A, PRKAR1B
21
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
22
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
23
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
24
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
25
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
26
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
27
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
28
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
29
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
30
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
318.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
328.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
338.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
348.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
35
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
36
Show member pathways
8.4GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
378.4CHGA, NR3C1, POMC, PRKACA, PRKACB
38
Show member pathways
8.3CTNNB1, PRKACA, PRKACB, PRKAR1A, PRKAR1B
39
Show member pathways
8.2GNAS, PDE11A, PRKACA, PRKACB, PRKAR1A, PRKAR1B
40
Show member pathways
8.1GNAS, PDE8B, PRKACA, PRKACB, PRKAR1A, PRKAR1B
41
Show member pathways
8.1GNAS, POMC, PRKACA, PRKACB, PRKAR1A, PRKAR1B
428.1NCAM1, PRKACA, PRKAR1A, PRKAR1B, SYP
43
Show member pathways
8.0CTNNB1, GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
44
Show member pathways
8.0CTNNB1, GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
45
Show member pathways
8.0CTNNB1, GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
468.0CTNNB1, GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
477.9CTNNB1, NR3C1, PRKACA, PRKACB, PRKAR1A, PRKAR1B
48
Show member pathways
7.6CHGA, GNAS, POMC, PRKACA, PRKACB, PRKAR1A
49
Show member pathways
7.5CHGA, CTNNB1, GNAS, PRKACA, PRKACB, PRKAR1A
50
Show member pathways
5.8CHGA, CTNNB1, GNAS, NCAM1, PDE11A, PDE8B

GO Terms for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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Cellular components related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1AMP-activated protein kinase complexGO:003158810.6PRKACA, PRKAR1A
2plasma membrane raftGO:004485310.4PRKACA, PRKAR1A
3ciliary baseGO:00975469.5PRKACA, PRKACB, PRKAR1A, PRKAR1B
4cAMP-dependent protein kinase complexGO:00059529.4PRKACA, PRKACB, PRKAR1A, PRKAR1B
5perinuclear region of cytoplasmGO:00484718.8CHGA, CTNNB1, GNAS, PRKACA, PRKACB
6cytosolGO:00058297.0CTNNB1, GNAS, NR3C1, PDE11A, PDE8B, PRKACA

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1cAMP catabolic processGO:000619810.6PDE11A, PDE8B
2negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:190162110.4PRKACA, PRKACB
3regulation of osteoblast differentiationGO:004566710.4CTNNB1, PRKACA
4negative regulation of meiotic cell cycleGO:005144710.3PRKACA, PRKACB
5regulation of protein processingGO:007061310.3PRKACA, PRKACB
6negative regulation of cAMP-dependent protein kinase activityGO:200048010.3PRKAR1A, PRKAR1B
7hair follicle placode formationGO:006078910.2CTNNB1, GNAS
8activation of protein kinase A activityGO:00341999.5PRKACA, PRKACB, PRKAR1A, PRKAR1B
9activation of phospholipase C activityGO:00072029.3PRKACA, PRKACB, PRKAR1A, PRKAR1B
10renal water homeostasisGO:00030919.0GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
11water transportGO:00068339.0GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
12energy reserve metabolic processGO:00061129.0GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
13regulation of insulin secretionGO:00507968.9GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
14cellular response to glucagon stimulusGO:00713778.9GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
15transmembrane transportGO:00550858.9GNAS, PRKACA, PRKACB, PRKAR1A, PRKAR1B
16fibroblast growth factor receptor signaling pathwayGO:00085438.3NCAM1, PRKACA, PRKACB, PRKAR1A, PRKAR1B
17neurotrophin TRK receptor signaling pathwayGO:00480118.2NCAM1, PRKACA, PRKACB, PRKAR1A, PRKAR1B
18epidermal growth factor receptor signaling pathwayGO:00071738.2NCAM1, PRKACA, PRKACB, PRKAR1A, PRKAR1B
19blood coagulationGO:00075968.2GNAS, PDE11A, PRKACA, PRKACB, PRKAR1A, PRKAR1B
20innate immune responseGO:00450877.1CHGA, CTNNB1, NCAM1, PRKACA, PRKACB, PRKAR1A
21signal transductionGO:00071656.6CTNNB1, GNAS, NR3C1, PDE11A, PDE8B, POMC

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

idNameGO IDScoreTop Affiliating Genes
1cAMP-dependent protein kinase activityGO:000469110.0PRKACA, PRKACB
2cAMP-dependent protein kinase inhibitor activityGO:00048629.9PRKAR1A, PRKAR1B
3protein kinase A catalytic subunit bindingGO:00342369.9PRKAR1A, PRKAR1B
43,5-cyclic-nucleotide phosphodiesterase activityGO:00041149.9PDE11A, PDE8B
5cAMP-dependent protein kinase regulator activityGO:00086039.9PRKAR1A, PRKAR1B
6cAMP bindingGO:00305529.3PDE11A, PRKAR1A, PRKAR1B

Sources for Primary Pigmented Nodular Adrenocortical Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet