CACOV
MCID: CRN038
MIFTS: 53

Carney Complex Variant (CACOV) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Carney Complex Variant

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Aliases & Descriptions for Carney Complex Variant:

Name: Carney Complex Variant 52 11 24 54 70 12 68
Carney Complex 11 23 48 24 25 27 39 13 68
Carney Syndrome 11 23 48 24 25
Carney Complex, Type 1 11 68
Carney Complex, Type 2 11 27
Lamb Syndrome 11 48
Name Syndrome 11 48
Car 48 2
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 25
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 25
 
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 48
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 48
Myxoma - Spotty Pigmentation - Endocrine Overactivity 48
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 54
Carney Myxoma-Endocrine Complex 48
Carney Complex, Type Ii 12
Familial Myxoma 24
Cacov 70
Cnc1 48

Characteristics:

HPO:

64
carney complex variant:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: the overall penetrance of cnc in those with a prkar1a pathogenic variant is greater than 95% by age 50 years...


Classifications:



External Ids:

OMIM52 608837
Disease Ontology11 DOID:0050471
MeSH39 D056733
NCIt45 C4705
SNOMED-CT62 239132009
Orphanet54 ORPHA319340
ICD10 via Orphanet31 Q68.8
MedGen37 C1837245

Summaries for Carney Complex Variant

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UniProtKB/Swiss-Prot:70 Carney complex variant: Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.

MalaCards based summary: Carney Complex Variant, also known as carney complex, is related to carney complex, type 1 and pituitary adenoma, growth hormone-secreting, and has symptoms including trismus, distal arthrogryposis and cardiac myxoma. An important gene associated with Carney Complex Variant is MYH8 (Myosin Heavy Chain 8), and among its related pathways are DARPP-32 Phosphorylation and Development EGFR signaling via small GTPases. Affiliated tissues include skin, thyroid and pituitary, and related mouse phenotypes are Decreased viability and liver/biliary system.

Disease Ontology:11 An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.

Genetics Home Reference:25 Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.

NIH Rare Diseases:48 Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. some families with this condition have been found to have mutations in the prkar1a gene. carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. in most cases, an affected person inherits the mutation from one affected parent. last updated: 4/6/2015

CDC:2 Supported by CDC research, collaborations, or technical assistance (no staff or physical presence)

Description from OMIM:52 608837

GeneReviews for NBK1286

Related Diseases for Carney Complex Variant

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Diseases in the Carney Complex Variant family:

Carney Complex, Type 1

Diseases related to Carney Complex Variant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1carney complex, type 112.2
2pituitary adenoma, growth hormone-secreting10.8
3paragangliomas 1, with or without deafness10.8
4pigmented nodular adrenocortical disease, primary, 110.3MYH8, PRKAR1A
5spondyloepimetaphyseal dysplasia, isidor type10.2AIP, MEN1
6spondylometaphyseal dysplasia, czarny-ratajczak type10.2AIP, MEN1
7atp7a-related copper transport disorders10.2AIP, GNAS
8familial porencephaly10.2AIP, CDKN1B
9pseudohypoparathyroidism, type ib10.1GNAS, PRKAR1A
10osseous heteroplasia, progressive10.1GNAS, MEN1, PRKAR1A
11glaucoma, hereditary adult type 1a10.1AIP, GPR101
12aneurysm10.1CDKN1B, MEN1, PRKAR1A
13african histoplasmosis10.1AIP, POMC
14vertebral artery occlusion10.1AIP, POMC
15epileptic encephalopathy, early infantile, 2610.1GNAS, PDE11A
16pituitary adenoma, acth-secreting10.0AIP, GNAS, GPR101
17subserous uterine fibroid10.0CDKN1B, MEN1, PRKAR1A
18uterine ligament cancer10.0AIP, GNAS, MEN1, PRKAR1A
19pulmonary neuroendocrine tumor10.0AIP, MEN1, POMC
20merkel cell carcinoma10.0PDE11A, POMC, PRKAR1A
21esophagus squamous cell papilloma10.0PDE11A, POMC, PRKAR1A
22immune system organ benign neoplasm10.0AIP, MEN1, POMC
23bowen-conradi syndrome10.0AIP, CDKN1B, MEN1, PRKAR1A
24early-onset parkinson disease10.0MEN1, POMC
25mitochondrial complex ii deficiency10.0MEN1, POMC
26infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations10.0AIP, GNAS, POMC
27endocrine organ benign neoplasm10.0AIP, MEN1, POMC
28rheumatic encephalitis10.0GNAS, MEN1, POMC
29leukemia, acute promyelocytic, somatic10.0CDKN1B, GNAS, MEN1, PRKAR1A
30protein s deficiency9.9AIP, POMC
31anisometropia9.9GNAS, PDE11A, POMC, PRKAR1A
32vestibular gland benign neoplasm9.9AIP, GNAS, MEN1, POMC
33cold-induced sweating syndrome 29.8AIP, GNAS, MEN1, POMC, PRKAR1A
34adamantinous craniopharyngioma9.8AIP, GNAS, MEN1, POMC, PRKAR1A
35bladder colonic type adenocarcinoma9.8AIP, GNAS, MEN1, POMC, PRKAR1A
36thrombophilia9.7AIP, GNAS, GPR101, MEN1, POMC
37peeling skin syndrome9.5GNAS, PDE11A, PDE8B, POMC, PRKACB, PRKAR1A
38cone-rod dystrophy 58.4AIP, CDKN1B, F10, GNAS, GPR101, MEN1

Graphical network of the top 20 diseases related to Carney Complex Variant:



Diseases related to carney complex variant

Symptoms & Phenotypes for Carney Complex Variant

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Clinical features from OMIM:

608837

Human phenotypes related to Carney Complex Variant:

 64 (show all 40)
id Description HPO Frequency HPO Source Accession
1 trismus64 HP:0000211
2 distal arthrogryposis64 HP:0005684
3 cardiac myxoma64 HP:0011672
4 growth hormone excess64 HP:0000845
5 thyroid adenoma64 HP:0000854
6 cafe-au-lait spot64 HP:0000957
7 multiple lentigines64 HP:0001003
8 hirsutism64 HP:0001007
9 pigmented micronodular adrenocortical disease64 HP:0001580
10 congestive heart failure64 HP:0001635
11 red hair64 HP:0002297
12 recurrent paroxysmal headache64 HP:0002331
13 hypertension associated with pheochromocytoma64 HP:0002640
14 thyroid carcinoma64 HP:0002890
15 neoplasm of the pancreas64 HP:0002894
16 parathyroid adenoma64 HP:0002897
17 colon cancer64 HP:0003003
18 increased circulating cortisol level64 HP:0003118
19 profuse pigmented skin lesions64 HP:0005587
20 adrenocortical carcinoma64 HP:0006744
21 adrenal pheochromocytoma64 HP:0006748
22 pituitary prolactin cell adenoma64 HP:0006767
23 pigmentation of the sclera64 HP:0007832
24 thyroid follicular hyperplasia64 HP:0008225
25 enlarged polycystic ovaries64 HP:0008675
26 vestibular schwannoma64 HP:0009588
27 peripheral schwannoma64 HP:0009593
28 fibroadenoma of the breast64 HP:0010619
29 uterine neoplasm64 HP:0010784
30 abnormality of circulating adrenocorticotropin level64 HP:0011043
31 pituitary growth hormone cell adenoma64 HP:0011760
32 hepatocellular adenoma64 HP:0012028
33 increased urinary cortisol level64 HP:0012030
34 stomach cancer64 HP:0012126
35 histiocytoma64 HP:0012315
36 osteochondroma64 HP:0030431
37 abnormal prolactin level64 HP:0040086
38 sertoli cell neoplasm64 HP:0100619
39 bronchogenic cyst64 HP:0100730
40 blue nevus64 HP:0100814

GenomeRNAi Phenotypes related to Carney Complex Variant according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-19.3CDKN1B, PRKACB, PRKAR1A, PRKAR1B

MGI Mouse Phenotypes related to Carney Complex Variant according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9AIP, CDKN1B, GNAS, MEN1, POMC, PRKAR1A
2MP:00020068.2AIP, CDKN1B, GNAS, MEN1, POMC, PRKAR1A
3MP:00053858.1AIP, CDKN1B, F10, GNAS, GPR101, MEN1

Drugs & Therapeutics for Carney Complex Variant

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Drugs for Carney Complex Variant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CarboplatinapprovedPhase 3205041575-94-410339178, 498142, 38904
Synonyms:
(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum
/h1-3H2,(H,7,8)(H,9,10)
/q
1,1-Cyclobutanedicarboxylate diammine platinum (II)
1,1-Cyclobutanedicarboxylate diammine platinum(II)
2*-1
2*1H2
41575-94-4
70903-55-8
AC-1457
AC1L8I6U
Ambap41575-94-4
BSPBio_003145
C 2538
C2043
C2538_SIGMA
C6H10N2O4Pt
CBDCA
CCRIS 3404
CHEBI:31355
CHEMBL1351
CHEMBL288376
CID10339178
CID2567
CID38904
CID426756
CID498142
CID5352133
CID6398587
CID6603770
Carbopaltin
Carboplatin
Carboplatin (JAN/USP/INN)
Carboplatin (USAN)
Carboplatin [USAN:INN:BAN:JAN]
Carboplatine
Carboplatine [French]
Carboplatino
Carboplatino [Spanish]
Carboplatinum
Carboplatinum [Latin]
Cbdca
Cyclobutane-1,1-dicarboxylate
D01363
DB00958
Diammine(1,1-cyclobutanedicarboxylato)platinum (II)
Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum
Diammine-1,1-cyclobutane dicarboxylate platinum II
DivK1c_000892
EINECS 255-446-0
EU-0100230
Ercar
HMS1921J16
HMS2090M05
HMS2092B22
HMS502M14
HSDB 6957
I14-2390
IDI1_000892
IUPAC: Azane
InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6
 
JM 8
JM-8
KBio1_000892
KBio2_002009
KBio2_004577
KBio2_007145
KBio3_002645
KBioGR_000713
KBioSS_002009
LS-117689
Lopac-C-2538
Lopac0_000230
MolPort-003-665-501
MolPort-003-845-609
NCGC00015223-01
NCGC00093695-01
NCGC00094961-01
NCGC00094961-02
NCGC00094961-03
NCGC00162099-01
NCGC00162099-02
NCGC00167800-01
NCGC00178242-01
NINDS_000892
NSC 201345
NSC 241240
NSC-241240
NSC201345
NSC241240
Paraplatin
Paraplatin (TN)
Paraplatin, Carboplatin
Paraplatin-AQ
Platinum(+2) Cation
Platinum(II), (1, 1-cyclobutanedicar
Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)
Platinum, {diammine[1,1-cyclobut
S1215_Selleck
SPBio_000716
SPECTRUM1502106
Spectrum2_000898
Spectrum3_001503
Spectrum4_000337
Spectrum5_001094
Spectrum_001529
UNII-BG3F62OND5
azanide
carboplatin
cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(ii)
cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)
cis-Diammine(1,1-cyclobutanedicarboxylato) platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diammine(cyclobutanedicarboxylato)platinum II
cyclobutane-1,1-dicarboxylic acid
diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum
nchembio.573-comp10
nchembio773-comp2
nchembio873-comp3
platinum(2+)
2
Paclitaxelapproved, vet_approvedPhase 3286433069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nab-paclitaxel
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
3
SuccinylcholineapprovedPhase 3, Phase 2169306-40-15314
Synonyms:
2,2'-[(1,4-DIOXOBUTANE-1,4-DIYL)BIS(OXY)]BIS(N,N,N-TRIMETHYLETHANAMINIUM)
2,2'-[(1,4-DIOXOBUTANE-1,4-diyl)bis(oxy)]bis(N,N,N-trimethylethanaminium)
2ha2
2ha6
306-40-1
4-04-00-01451 (Beilstein Handbook Reference)
541-19-5 (diiodide)
55-94-7 (dibromide)
71-27-2 (dichloride)
AC1L1K2T
Anectine
BRN 1805311
C07546
C14H30N2O4
CHEBI:45652
CHEMBL703
CID5314
Choline, succinate (2:1) (ester)
Choline, succinate (ester)
DB00202
Diacetylcholine
Dicholine succinate
Ditilin
Ditiline
HMS2090P14
HSDB 3254
InChI=1/C14H30N2O4/c1-15(2,3)9-11-19-13(17)7-8-14(18)20-12-10-16(4,5)6/h7-12H2,1-6H3/q+2
L000926
LS-53328
Listenon
 
Lopac-S-8251
Lopac0_001080
Lysthenon
MolPort-002-964-486
NCGC00015971-01
NCGC00015971-03
NCGC00162336-01
Quelicin
Quelicin Preservative Free
SCK
ST50437287
STK177290
Scoline
Succicuran
Succinic acid, diester with choline
Succinic acid, diester with choline chloride
Succinocholine
Succinoylcholine
Succinyl choline
Succinylbischoline
Succinylcholine
Succinylcholine Chloride
Succinyldicholine
Sucostrin
Suxamethonium
Suxamethonium chloride
UNII-J2R869A8YF
ZINC01530820
succinylcholine
succinyldicholine
trimethyl-[2-[4-oxo-4-(2-trimethylazaniumylethoxy)butanoyl]oxyethyl]azanium diio
trimethyl-[2-[4-oxo-4-[2-(trimethylazaniumyl)ethoxy]butanoyl]oxyethyl]azanium
4
CisplatinapprovedPhase 3, Phase 2277015663-27-184093, 441203, 2767
Synonyms:
(SP-4-1)-diamminedichloridoplatinum
(SP-4-1)-diamminedichloroplatinum
(SP-4-2)-diamminedichloridoplatinum
(SP-4-2)-diamminedichloroplatinum
Abiplatin
Biocisplatinum
Briplatin
CACP
CDDP
CHEBI:35852
CID441203
CPD0-1392
CPDC
CPDD
Carboquone
Cis Pt II
Cis-DDP
Cis-Diaminedichloroplatinum
Cis-Diamminedichloroplatinum
Cismaplat
Cisplatine
Cisplatino
Cisplatinum
Cisplatyl
Citoplationo
DB00515
DDP
DDPT
Diamminedichloroplatinum
 
EU-0100918
Lederplatin
Neoplatin
Peyrone's chloride
Peyrone's salt
Plastin
Platamine
Platiblastin
Platidiam
Platinex
Platinol
Platinol-AQ
Platinoxan
Platinum Ammine Chloride
Platinum Ammonium Chloride
Platinum Diamine Dichloride
Randa
Trans-DDP
Trans-Diaminedichloroplatinum
Trans-Diamminedichloroplatinum
Trans-Dichlorodiammine Platinum
Trans-Platinumdiammine Dichloride
cis-DDP
cis-Diamminedichloroplatinum
cis-Dichlorodiammineplatinum(II)
cis-[PtCl2(NH3)2]
cis-diamminedichloridoplatinum(II)
cis-diamminedichloroplatinum(II)
nchembio773-comp1
trans-diamminedichloridoplatinum(II)
5Peripheral Nervous System AgentsPhase 3, Phase 223689
6Albumin-Bound PaclitaxelPhase 32864
7Neuromuscular Depolarizing AgentsPhase 3, Phase 2139
8Neuromuscular Blocking AgentsPhase 3, Phase 2429
9Antineoplastic Agents, PhytogenicPhase 35602
10Antimitotic AgentsPhase 35657
11Neuromuscular AgentsPhase 3, Phase 21180
12
Epinephrineapproved, vet_approved98551-43-45816
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
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Interventional clinical trials:

idNameStatusNCT IDPhase
1Cisplatin and Radiation Therapy With or Without Carboplatin and Paclitaxel in Patients With Locally Advanced Cervical CancerRecruitingNCT01414608Phase 3
2Linsitinib in Treating Patients With Gastrointestinal Stromal TumorsCompletedNCT01560260Phase 2
3Radiation Therapy and Cisplatin With or Without Triapine in Treating Patients With Newly Diagnosed Stage IB2, II, or IIIB-IVA Cervical Cancer or Stage II-IVA Vaginal CancerRecruitingNCT02466971Phase 2
4Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in AcromegalyUnknown statusNCT01902420
5Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)CompletedNCT00668291
6Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney ComplexRecruitingNCT00001452
7Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268
8Studying the Physical Function and Quality of Life Before and After Surgery in Patients With Stage I Cervical CancerRecruitingNCT01649089

Search NIH Clinical Center for Carney Complex Variant


Cochrane evidence based reviews: carney complex

Genetic Tests for Carney Complex Variant

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Genetic tests related to Carney Complex Variant:

id Genetic test Affiliating Genes
1 Carney Complex27 24 PRKAR1A
2 Carney Complex Variant27 24 MYH8
3 Carney Complex, Type 227

Anatomical Context for Carney Complex Variant

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MalaCards organs/tissues related to Carney Complex Variant:

36
Skin, Thyroid, Pituitary, Heart, Breast, Bone, Pancreas

Publications for Carney Complex Variant

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Articles related to Carney Complex Variant:

idTitleAuthorsYear
1
Mutation of perinatal myosin heavy chain associated with a Carney complex variant. (15282353)
2004

Variations for Carney Complex Variant

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UniProtKB/Swiss-Prot genetic disease variations for Carney Complex Variant:

70
id Symbol AA change Variation ID SNP ID
1MYH8p.Arg674GlnVAR_019810rs28932773

Clinvar genetic disease variations for Carney Complex Variant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PRKAR1ANM_ 212472.2(PRKAR1A): c.709-7_ 709-2delTTTTTAdeletionPathogenicrs281864801GRCh37Chr 17, 66523974: 66523979
2MYH8NM_ 002472.2(MYH8): c.2021G> A (p.Arg674Gln)SNVPathogenicrs121434590GRCh37Chr 17, 10310241: 10310241
3PRKAR1ANM_ 002734.4(PRKAR1A): c.623delG (p.Gly208Glufs)deletionPathogenicrs727503379GRCh37Chr 17, 66521968: 66521968

Expression for genes affiliated with Carney Complex Variant

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Search GEO for disease gene expression data for Carney Complex Variant.

Pathways for genes affiliated with Carney Complex Variant

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Pathways related to Carney Complex Variant according to GeneCards Suite gene sharing:

(show all 41)
idSuper pathwaysScoreTop Affiliating Genes
19.2PRKACB, PRKAR1B
2
Show member pathways
9.0GNAS, PRKAR1A, PRKAR1B
39.0PRKACB, PRKAR1A, PRKAR1B
49.0PRKACB, PRKAR1A, PRKAR1B
59.0PRKACB, PRKAR1A, PRKAR1B
69.0PRKACB, PRKAR1A, PRKAR1B
79.0PRKACB, PRKAR1A, PRKAR1B
89.0PRKACB, PRKAR1A, PRKAR1B
99.0PRKACB, PRKAR1A, PRKAR1B
109.0PRKACB, PRKAR1A, PRKAR1B
11
Show member pathways
8.9GNAS, PRKACB, PRKAR1B
12
Show member pathways
8.9GNAS, PDE11A, PDE8B, PRKACB
138.6GNAS, PDE11A, PDE8B, POMC
148.6GNAS, PRKACB, PRKAR1A, PRKAR1B
15
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
16
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
17
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
18
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
19
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
20
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
21
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
22
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
23
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
24
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
258.6GNAS, PRKACB, PRKAR1A, PRKAR1B
26
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
278.6GNAS, PRKACB, PRKAR1A, PRKAR1B
28
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
29
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
308.6GNAS, PRKACB, PRKAR1A, PRKAR1B
318.6GNAS, PRKACB, PRKAR1A, PRKAR1B
32
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
338.6GNAS, PRKACB, PRKAR1A, PRKAR1B
34
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
358.4POMC, PRKACB, PRKAR1A, PRKAR1B
36
Show member pathways
8.3GNAS, MYH8, PRKACB, PRKAR1A, PRKAR1B
37
Show member pathways
8.1CDKN1B, GNAS, PRKACB, PRKAR1A, PRKAR1B
38
Show member pathways
8.0GNAS, POMC, PRKACB, PRKAR1A, PRKAR1B
39
Show member pathways
8.0GNAS, POMC, PRKACB, PRKAR1A, PRKAR1B
40
Show member pathways
7.9F10, GNAS, PDE11A, PRKACB, PRKAR1A, PRKAR1B
41
Show member pathways
7.0CDKN1B, GNAS, PDE8B, POMC, PRKACB, PRKAR1A

GO Terms for genes affiliated with Carney Complex Variant

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Cellular components related to Carney Complex Variant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cAMP-dependent protein kinase complexGO:00059529.8PRKACB, PRKAR1A, PRKAR1B
2ciliary baseGO:00975469.8PRKACB, PRKAR1A, PRKAR1B
3cytosolGO:00058296.5AIP, CDKN1B, GNAS, MEN1, MYH8, PDE11A

Biological processes related to Carney Complex Variant according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cyclin-dependent protein serine/threonine kinase activityGO:004573610.5CDKN1B, MEN1
2cAMP catabolic processGO:000619810.4PDE11A, PDE8B
3adenylate cyclase-activating adrenergic receptor signaling pathwayGO:007188010.3GNAS, GPR101
4negative regulation of cAMP-dependent protein kinase activityGO:200048010.1PRKAR1A, PRKAR1B
5activation of protein kinase A activityGO:00341999.7PRKACB, PRKAR1A, PRKAR1B
6blood coagulationGO:00075969.4F10, PRKACB, PRKAR1A, PRKAR1B
7cellular response to glucagon stimulusGO:00713779.3GNAS, PRKACB, PRKAR1A, PRKAR1B
8renal water homeostasisGO:00030919.3GNAS, PRKACB, PRKAR1A, PRKAR1B
9signal transductionGO:00071657.4AIP, GNAS, GPR101, PDE11A, PDE8B, POMC

Molecular functions related to Carney Complex Variant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-AMP phosphodiesterase activityGO:000411510.1PDE11A, PDE8B
23,5-cyclic-nucleotide phosphodiesterase activityGO:000411410.1PDE11A, PDE8B
3cAMP-dependent protein kinase inhibitor activityGO:00048629.7PRKAR1A, PRKAR1B
4cAMP-dependent protein kinase regulator activityGO:00086039.7PRKAR1A, PRKAR1B
5cAMP bindingGO:00305529.5PDE11A, PRKAR1A, PRKAR1B
6protein kinase A catalytic subunit bindingGO:00342369.4PRKAR1A, PRKAR1B

Sources for Carney Complex Variant

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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