PPNAD
MCID: PRM051
MIFTS: 52

Primary Pigmented Nodular Adrenocortical Disease (PPNAD) malady

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases

Aliases & Classifications for Primary Pigmented Nodular Adrenocortical Disease

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Aliases & Descriptions for Primary Pigmented Nodular Adrenocortical Disease:

Name: Primary Pigmented Nodular Adrenocortical Disease 11 48 54 13
Ppnad 48 54
 
Pigmented Nodular Adrenocortical Disease, Primary, 2 39
Pigmented Nodular Adrenocortical Disease, Primary, 1 39

Characteristics:

Orphanet epidemiological data:

54
primary pigmented nodular adrenocortical disease:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:0060280
Orphanet54 ORPHA189439
ICD10 via Orphanet31 E24.8

Summaries for Primary Pigmented Nodular Adrenocortical Disease

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Disease Ontology:11 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 pigmented nodular adrenocortical disease, primary, 3 and pigmented nodular adrenocortical disease, primary, 4, and has symptoms including Array, Array and Array. 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 are Serotonin Receptor 4/6/7 and NR3C Signaling and Corticotropin-releasing hormone signaling pathway. Affiliated tissues include adrenal cortex, cortex and adrenal gland, and related mouse phenotypes are Decreased cell migration and Increased cell death HMECs cells.

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 109)
idRelated DiseaseScoreTop Affiliating Genes
1pigmented nodular adrenocortical disease, primary, 311.9
2pigmented nodular adrenocortical disease, primary, 411.9
3pigmented nodular adrenocortical disease, primary, 211.8
4pigmented nodular adrenocortical disease, primary, 111.8
5acth-independent macronodular adrenal hyperplasia11.1
6cushing's syndrome10.5
7peroneal nerve paralysis10.3CHGA, SYP
8thymus small cell carcinoma10.3CHGA, SYP
9brain stem ependymoma10.3CHGA, SYP
10extrahepatic biliary papillomatosis10.2CHGA, SYP
11prolactin producing pituitary tumor10.2CHGA, SYP
12adenoma10.2
13epithelioid malignant peripheral nerve sheath tumor10.2CHGA, SYP
14ameloblastoma10.2POMC, PRKAR1A, SYP
15pharynx cancer10.2POMC, PRKAR1A, SYP
16proliferative glomerulonephritis10.2CTNNB1, SYP
17cartilage cancer10.2CHGA, SYP
18intrahepatic bile duct adenoma10.2NCAM1, SYP
19villous adenocarcinoma10.2CHGA, SYP
20cold-induced sweating syndrome 210.2GNAS, POMC, PRKAR1A
21glomus tumor10.2NCAM1, SYP
22bone benign neoplasm10.2CTNNB1, POMC, SYP
23glioma susceptibility 110.2CHGA, PRKAR1A, SYP
24adamantinous craniopharyngioma10.2GNAS, POMC, PRKAR1A
25mitochondrial complex ii deficiency10.2CHGA, POMC, SYP
26eccrine papillary adenocarcinoma10.2CHGA, POMC, SYP
27cavernous hemangioma of face10.2CHGA, CTNNB1, SYP
28jejunal neuroendocrine tumor10.2CHGA, SYP
29leukemia, acute promyelocytic, somatic10.1CHGA, GNAS, PRKAR1A
30synovitis10.1ESR1, SYP
31infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations10.1GNAS, NR3C1, POMC
32renal pelvis adenocarcinoma10.1CHGA, SYP
33wheat allergy10.1PGR, POMC, SYP
34pancreatic colloid cystadenoma10.1PGR, POMC, SYP
35non specific chronic endometritis10.1CHGA, NCAM1, SYP
36superior vena cava syndrome10.1CHGA, NCAM1, SYP
37fragile x-associated tremor/ataxia syndrome10.1CHGA, NCAM1, SYP
38anal squamous cell carcinoma10.1CHGA, NCAM1, SYP
39uterine corpus myxoid leiomyosarcoma10.1CHGA, NCAM1, SYP
40pancreatic agenesis10.1CHGA, NCAM1, SYP
41myoepithelial carcinoma10.1CHGA, NCAM1, SYP
42retinal telangiectasia10.1CHGA, NCAM1, SYP
43spasmodic dysphonia10.1CHGA, SYP
44cavernous hemangioma of colon10.1NCAM1, PGR
45urinary tract papillary transitional cell benign neoplasm10.1CHGA, NCAM1, SYP
46brachial plexus neuropathy10.1CHGA, NCAM1, SYP
47oral leukoedema10.1CHGA, NCAM1, SYP
48brown-vialetto-van laere syndrome10.1CHGA, NCAM1, SYP
49meige syndrome10.1CHGA, NCAM1, SYP
50merkel cell carcinoma10.1NR3C1, PDE11A, POMC, PRKAR1A

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

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Human phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

 54 64 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadism64 54 Frequent (79-30%) HP:0000135
2 diabetes mellitus64 54 Frequent (79-30%) HP:0000819
3 hypertension64 54 Frequent (79-30%) HP:0000822
4 osteoporosis64 54 Frequent (79-30%) HP:0000939
5 thin skin64 54 Frequent (79-30%) HP:0000963
6 striae distensae64 54 Frequent (79-30%) HP:0001065
7 muscle weakness64 54 Frequent (79-30%) HP:0001324
8 slender build64 54 Frequent (79-30%) HP:0001533
9 pigmented micronodular adrenocortical disease64 54 Very frequent (99-80%) HP:0001580
10 increased susceptibility to fractures64 54 Frequent (79-30%) HP:0002659
11 myopathy64 54 Occasional (29-5%) HP:0003198
12 skeletal muscle atrophy64 54 Frequent (79-30%) HP:0003202
13 short stature64 54 Frequent (79-30%) HP:0004322
14 adrenal hyperplasia64 54 Very frequent (99-80%) HP:0008221
15 fatigue64 54 Frequent (79-30%) HP:0012378

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-18.8CTNNB1, NCAM1, PRKACA, PRKACB, PRKAR1A
2GR00103-A-08.5CTNNB1, NR3C1, PGR, PRKACA, PRKACB
3GR00235-A7.2CHGA, CTNNB1, ESR1, GNAS, PDE8B, PGR

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

41 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020067.9CTNNB1, ESR1, ESR2, GNAS, PGR, POMC
2MP:00053757.8ESR1, ESR2, GNAS, NR3C1, POMC, PRKACA
3MP:00053707.8CTNNB1, ESR1, ESR2, GNAS, NR3C1, POMC
4MP:00053697.7CTNNB1, ESR1, ESR2, GNAS, NR3C1, PGR
5MP:00053897.6CHGA, CTNNB1, ESR1, ESR2, NR3C1, PGR
6MP:00107717.6CTNNB1, ESR1, ESR2, GNAS, NR3C1, PGR
7MP:00030127.5CTNNB1, ESR1, ESR2, GNAS, NR3C1, PGR
8MP:00028737.4CTNNB1, ESR1, ESR2, GNAS, NR3C1, PGR
9MP:00053677.4CHGA, CTNNB1, ESR1, ESR2, GNAS, NR3C1
10MP:00053847.0CTNNB1, ESR1, ESR2, GNAS, NCAM1, NR3C1
11MP:00053856.8CHGA, CTNNB1, ESR1, ESR2, GNAS, NR3C1
12MP:00053796.7CHGA, CTNNB1, ESR1, ESR2, GNAS, NR3C1
13MP:00053906.7CTNNB1, ESR1, ESR2, GNAS, NR3C1, PGR
14MP:00053766.6CHGA, CTNNB1, ESR1, ESR2, GNAS, NR3C1
15MP:00053865.7CTNNB1, ESR1, ESR2, GNAS, NCAM1, NR3C1
16MP:00036315.6CTNNB1, ESR1, ESR2, GNAS, NCAM1, NR3C1
17MP:00107685.6CHGA, CTNNB1, ESR1, ESR2, GNAS, NCAM1

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):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Hydrocortisoneapproved, vet_approvedPhase 266750-23-75754, 657311
Synonyms:
(11alpha,14beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione
(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione
11-Hydrocortisone
11-beta-Hydrocortisone
11-beta-Hydroxycortisone
11a-Hydroxycorticosterone
11alpha-Hydroxycorticosterone
11b,17,21-Trihydroxyprogesterone
11b-Hydrocortisone
11b-Hydroxycortisone
11beta,17,21-Trihydroxyprogesterone
11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione
11beta-Hydrocortisone
11beta-Hydroxycortisone
11beta-hydrocortisone
11β-hydrocortisone
17-Hydroxycorticosterone
17a-Hydroxycorticosterone
17alpha-Hydroxycorticosterone
2v95
4-Pregnen-11beta,17alpha,21-triol-3,20-dione
4-Pregnene-11alpha,21-triol 3,20-dione
4-Pregnene-11b,17a,21-triol-3,20-dione
50-23-7
8056-08-4
80562-38-5
8063-42-1
AC-12902
AC1L1L2B
ACETASOL HC
ACETIC ACID W/ HYDROCORTISONE
AI3-25006
AKOS001582651
Acticort
Acticort (TN)
Aeroseb HC
Aeroseb-HC
Ala-Cort
Ala-Scalp
Alacort
Algicirtis
Alphaderm
Amberin
Anflam
Anti-inflammatory hormone
Anucort
Anucort-HC
Anusol HC
Anusol HC (TN)
Aquacort
Aquanil HC
B48448A1-24BA-47CA-8D9E-43E5BC949386
BPBio1_000544
BRD-K93568044-001-03-1
BSPBio_000494
Balneol-hc
Barseb HC
Basan-Corti
Beta-hc
Bio-0648
C00735
C21H30O5
CCRIS 5854
CHEBI:17650
CHEMBL389621
CID5754
COR-OTICIN
CPD000653523
CaldeCORT Spray
Cetacort
Chronocort
Clear aid
Cleiton
Cobadex
Colocort
Colocort (TN)
Compound F
Compound F (kendall)
Cor-Tar-Quin
Corhydron
Cort-Dome
Cort-Quin
Cortanal
Cortef
Cortef (TN)
Cortenema
Cortesal
Corticreme
Cortifair
Cortifan
Cortifoam
Cortiment
Cortisol
Cortisol alcohol
Cortisol, Hydrocortisone
Cortisolonum
Cortisporin
Cortisporin Otico
Cortispray
Cortizol
Cortolotion
Cortonema
Cortoxide
Cortril
Cremesone
Cremicort-H
Cutisol
Cyclodextrin-encapsulated hydrocortisone
D00088
DB00741
DB07886
Delacort
Derm-Aid
Dermacort
Dermaspray
Dermil
Dermocortal
Dermolate
Dihydrocostisone
Dioderm
Dome-cort
Domolene-HC
Drotic
DuoCort
EINECS 200-020-1
EU-0100594
Ef corlin
Efcorbin
Efcortelan
Efcortelin
Eldecort
Eldercort
Epicort
Epicortisol
Epiderm H
Esiderm H
Evacort
Ficortril
Fiocortril
Flexicort
Foille Insetti
Genacort
Genacort (lotion)
Glycort
Gyno-Cortisone
H 4001
H-Cort
H0135_SIGMA
H0396_SIGMA
H0888_SIGMA
H3160_SIGMA
H4001_SIGMA
H6909_SIGMA
HC
HC #1
 
HC #4
HC (HYDROCORTISONE)
HMS1569I16
HMS2090M04
HSDB 3339
HYDROCORTISONE AND ACETIC ACID
HYDROCORTISONE IN ABSORBASE
Heb Cort
Heb-Cort
Hi-cor
Hidalone
Hidro-Colisona
Hidrocortisona
Hidrocortisona [INN-Spanish]
Hycort
Hycortol
Hycortole
Hydracort
Hydrasson
Hydro-Adreson
Hydro-Colisona
Hydro-RX
Hydro-colisona
Hydrocort
Hydrocortal
Hydrocorticosterone
Hydrocortisone
Hydrocortisone (JP15/USP/INN)
Hydrocortisone Acetate
Hydrocortisone Base
Hydrocortisone Butyrate
Hydrocortisone Sodium Phosphate
Hydrocortisone Valerate
Hydrocortisone [INN:BAN:JAN]
Hydrocortisone alcohol
Hydrocortisone base
Hydrocortisone free alcohol
Hydrocortisone solution
Hydrocortisone-Water Soluble
Hydrocortisonum
Hydrocortisonum [INN-Latin]
Hydrocortistab
Hydrocortisyl
Hydrocortone
Hydroskin
Hydroxycortisone
Hysone
Hytisone
Hytone
Hytone (TN)
Hytone lotion
Idrocortisone
Idrocortisone [DCIT]
Incortin-H
Incortin-hydrogen
Kendall'S compound F
Kendall's compound F
Komed HC
Kyypakkaus
LMST02030001
LS-7439
Lacticare HC
Lacticare-HC
Lactisona
Lopac0_000594
Lubricort
MLS000069609
MLS001148103
MLS002207135
MLS002222189
Maintasone
Medicort
Meusicort
Mildison
Milliderm
MolPort-001-794-637
NCGC00022848-06
NCGC00022848-07
NCGC00022848-09
NCGC00022848-12
NCI60_000118
NSC 10483
NSC-10483
NSC10483
Neo-Cort-Dome
Neo-Cortef
Neosporin-H Ear
Nogenic HC
Nutracort
Nystaform-HC
ORLEX HC
Optef
Otalgine
Otic-Neo-Cort-Dome
Otobiotic
Otocort
Otosone-F
Pediotic Suspension
Penecort
Permicort
Polcort H
Preparation H Hydrocortisone Cream
Prepcort
Prestwick0_000447
Prestwick1_000447
Prestwick2_000447
Prestwick3_000447
Prestwick_265
Prevex HC
Proctocort
Proctofoam
Proctozone HC
Protocort
Racet
Rectasol-HC
Rectoid
Reichstein'S substance M
Reichstein's substance M
Remederm HC
S1696_Selleck
SAM002264617
SMP1_000156
SMR000059022
SMR000653523
SPBio_002433
Sanatison
Scalp-Cort
Scalpicin Capilar
Schericur
Scheroson F
Sigmacort
Signef
Stie-cort
Stiefcorcil
Synacort
Systral Hydrocort
Tarcortin
Texacort
Texacort lotion 25
Timocort
Topicort
Transderma H
Traumaide
UNII-WI4X0X7BPJ
UPCMLD-DP133
UPCMLD-DP133:001
Uniderm
Vioform-Hydrocortisone
VoSol HC
Vytone
Zenoxone
[3H]cortisol
component of Lubricort
component of Neo-Cort-Dome
component of Otalgine
hydrocortisone
2
Epinephrineapproved, vet_approvedPhase 298551-43-45816
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
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
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 hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr.
Epipen Jr. Auto-Injector
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
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
3Hydrocortisone 17-butyrate 21-propionatePhase 2667
4Hydrocortisone acetatePhase 2667
5HormonesPhase 214415
6Cortisol succinatePhase 2667
7Epinephryl boratePhase 2985
8RacepinephrinePhase 2985
9Adrenocorticotropic HormonePhase 2164

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Efficacy and Safety of Osilodrostat in Cushing's SyndromeRecruitingNCT02468193Phase 2
2Study to Evaluate CORT125134 in Patients With Cushing's SyndromeRecruitingNCT02804750Phase 2
3Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)CompletedNCT00668291
4Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney ComplexRecruitingNCT00001452

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:

36
Adrenal cortex, Cortex, Adrenal gland, Skin, Skeletal muscle, Pituitary

Publications for Primary Pigmented Nodular Adrenocortical Disease

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Articles related to Primary Pigmented Nodular Adrenocortical Disease:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Use of 3-Dimensional Volumetric Modeling of Adrenal Gland Size in Patients with Primary Pigmented Nodular Adrenocortical Disease. (27065461)
2016
2
A Novel Mutation in the type II+ Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease. (27580546)
2016
3
Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD). (26390100)
2015
4
Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings. (24805858)
2014
5
A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease. (24978147)
2014
6
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
7
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
8
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
9
Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. (23065993)
2013
10
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
11
Primary pigmented nodular adrenocortical disease. (21717412)
2011
12
A case of subclinical Cushing syndrome due to primary pigmented nodular adrenocortical disease associated with adrenocortical adenoma. (21442380)
2011
13
Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease--case presentation. (21932601)
2011
14
Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl. (21648292)
2011
15
Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected. (20924687)
2011
16
Primary pigmented nodular adrenocortical disease. (22121318)
2011
17
CT findings of primary pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome. (20489078)
2010
18
Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report. (20670433)
2010
19
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. (19833579)
2010
20
Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. (19915019)
2010
21
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review. (20099223)
2010
22
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. (20190548)
2010
23
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
24
MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling. (19351815)
2009
25
Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease. (18508999)
2008
26
Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. (18491255)
2008
27
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). (18419788)
2008
28
Primary pigmented nodular adrenocortical disease with synaptophysin immunoreactivity in two thai children. (17624220)
2007
29
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
30
Primary pigmented nodular adrenocortical disease and Cushing's syndrome. (18209861)
2007
31
Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A. (17280861)
2007
32
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. (16464939)
2006
33
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. (17322955)
2006
34
Primary pigmented nodular adrenocortical disease: report of 5 cases. (16701022)
2006
35
PRKAR1A mutations in primary pigmented nodular adrenocortical disease. (17036196)
2006
36
Bilateral adrenal Cushing's syndrome: macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease. (15850852)
2005
37
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? (15240590)
2004
38
Clinical and molecular genetics of primary pigmented nodular adrenocortical disease. (15761532)
2004
39
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
40
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. (12213893)
2002
41
Carney complex, a familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: a case report. (12670039)
2002
42
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. (12424709)
2002
43
Synaptophysin immunoreactivity in primary pigmented nodular adrenocortical disease: neuroendocrine properties of tumors associated with Carney complex. (10084605)
1999
44
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. (10523219)
1999
45
Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy. (9100606)
1997
46
Relapse of Cushing's syndrome following the treatment of primary pigmented nodular adrenocortical disease by unilateral adrenalectomy. (8811225)
1996
47
Cushing's syndrome due to primary pigmented nodular adrenocortical disease--a case report reviews of the literature. (7626560)
1995
48
Bilateral primary pigmented nodular adrenocortical disease--a case of report describing a rare cause of Cushing's syndrome. (7786440)
1994
49
Use of a two-site immunoradiometric assay to resolve a factitious elevation of ACTH in primary pigmented nodular adrenocortical disease. (8186827)
1994
50
Carney's complex with primary pigmented nodular adrenocortical disease and spotty pigmentations. (8495049)
1993

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_ 212472.2(PRKAR1A): c.709-7_ 709-2delTTTTTAdeletionPathogenicrs281864801GRCh37Chr 17, 66523974: 66523979

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 66)
idSuper pathwaysScoreTop Affiliating Genes
19.8GNAS, NR3C1
29.5CTNNB1, GNAS, POMC
39.4GNAS, PDE11A, PDE8B, POMC
49.4PRKACA, PRKACB
59.4PRKACA, PRKACB
69.4PRKACA, PRKACB
79.3ESR1, ESR2
89.3ESR1, GNAS, PRKACA
9
Show member pathways
9.2CTNNB1, NR3C1, PRKACA, PRKAR1A
109.2PRKACA, PRKACB, PRKAR1A
119.2PRKACA, PRKACB, PRKAR1A
129.2PRKACA, PRKACB, PRKAR1A
139.2PRKACA, PRKACB, PRKAR1A
149.2PRKACA, PRKACB, PRKAR1A
159.2PRKACA, PRKACB, PRKAR1A
169.1GNAS, PRKACA, PRKACB
17
Show member pathways
9.1GNAS, PRKACA, PRKACB
189.1GNAS, PRKACA, PRKACB
199.1GNAS, PRKACA, PRKACB
209.1GNAS, PRKACA, PRKACB
219.1GNAS, PRKACA, PRKACB
229.1GNAS, PRKACA, PRKACB
239.1GNAS, PRKACA, PRKACB
249.1GNAS, PRKACA, PRKACB
259.1GNAS, PRKACA, PRKACB
269.1GNAS, PRKACA, PRKACB
279.0NR3C1, PRKACA, PRKACB
288.9NCAM1, PRKACA, PRKACB
298.9ESR1, ESR2, NR3C1
308.9NCAM1, POMC, PRKACA, PRKAR1A, SYP
318.9POMC, PRKACA, PRKACB, PRKAR1A
32
Show member pathways
8.9GNAS, PRKACA, PRKACB, PRKAR1A
338.9GNAS, PRKACA, PRKACB, PRKAR1A
34
Show member pathways
8.9GNAS, PRKACA, PRKACB, PRKAR1A
358.9GNAS, PRKACA, PRKACB, PRKAR1A
36
Show member pathways
8.9GNAS, PRKACA, PRKACB, PRKAR1A
37
Show member pathways
8.9GNAS, PRKACA, PRKACB, PRKAR1A
38
Show member pathways
8.9GNAS, PRKACA, PRKACB, PRKAR1A
39
Show member pathways
8.9GNAS, PRKACA, PRKACB, PRKAR1A
40
Show member pathways
8.9GNAS, PRKACA, PRKACB, PRKAR1A
41
Show member pathways
8.9GNAS, PRKACA, PRKACB, PRKAR1A
428.9GNAS, PRKACA, PRKACB, PRKAR1A
438.9GNAS, PRKACA, PRKACB, PRKAR1A
44
Show member pathways
8.9GNAS, PRKACA, PRKACB, PRKAR1A
458.9GNAS, PRKACA, PRKACB, PRKAR1A
46
Show member pathways
8.8CTNNB1, PRKACA, PRKACB, PRKAR1A
478.7NR3C1, POMC, PRKACA, PRKACB
48
Show member pathways
8.6GNAS, PDE11A, PDE8B, PRKACA, PRKACB
49
Show member pathways
8.6GNAS, POMC, PRKACA, PRKACB, PRKAR1A
50
Show member pathways
8.6GNAS, POMC, PRKACA, PRKACB, PRKAR1A

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
1neuromuscular junctionGO:003159410.3PRKACA, PRKAR1A, SYP
2plasma membrane raftGO:004485310.0PRKACA, PRKAR1A
3cAMP-dependent protein kinase complexGO:00059529.8PRKACA, PRKACB, PRKAR1A
4ciliary baseGO:00975469.8PRKACA, PRKACB, PRKAR1A
5perinuclear region of cytoplasmGO:00484718.7CHGA, CTNNB1, GNAS, PRKACA, PRKACB

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cAMP catabolic processGO:000619810.7PDE11A, PDE8B
2regulation of osteoblast differentiationGO:004566710.6CTNNB1, PRKACA
3hair follicle placode formationGO:006078910.6CTNNB1, GNAS
4high-density lipoprotein particle assemblyGO:003438010.1PRKACA, PRKACB
5negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:190162110.1PRKACA, PRKACB
6regulation of protein processingGO:007061310.1PRKACA, PRKACB
7activation of protein kinase A activityGO:00341999.9PRKACA, PRKACB, PRKAR1A
8positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.7CTNNB1, ESR1, ESR2
9cellular response to glucagon stimulusGO:00713779.6GNAS, PRKACA, PRKACB, PRKAR1A
10renal water homeostasisGO:00030919.6GNAS, PRKACA, PRKACB, PRKAR1A
11steroid hormone mediated signaling pathwayGO:00434019.0ESR1, ESR2, NR3C1, PGR
12transcription initiation from RNA polymerase II promoterGO:00063678.4ESR1, ESR2, NR3C1, PGR
13signal transductionGO:00071656.7CTNNB1, ESR1, ESR2, GNAS, NR3C1, PDE11A

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-AMP phosphodiesterase activityGO:000411510.7PDE11A, PDE8B
23,5-cyclic-nucleotide phosphodiesterase activityGO:000411410.7PDE11A, PDE8B
3cAMP-dependent protein kinase activityGO:000469110.1PRKACA, PRKACB
4estrogen receptor activityGO:003028410.0ESR1, ESR2
5estrogen response element bindingGO:003405610.0ESR1, ESR2
6RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA bindingGO:00380529.9ESR1, ESR2
7RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.3ESR1, ESR2, PGR
8enzyme bindingGO:00198999.1CTNNB1, ESR1, ESR2, PGR
9RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.1CTNNB1, ESR1, NR3C1, PGR
10lipid bindingGO:00082899.0ESR1, ESR2, NR3C1, PGR
11steroid bindingGO:00054968.9ESR1, ESR2, NR3C1, PGR
12steroid hormone receptor activityGO:00037078.4ESR1, ESR2, NR3C1, PGR

Sources for Primary Pigmented Nodular Adrenocortical Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet