MCID: CRN038
MIFTS: 53

Carney Complex Variant 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 50 11 23 52 68 12 66
Carney Complex 11 22 46 23 24 13 25 37 66
Carney Syndrome 11 22 46 23 24
Carney Complex, Type 1 11 66
Carney Complex, Type 2 11 25
Lamb Syndrome 11 46
Name Syndrome 11 46
Car 46 2
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 24
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 24
 
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 46
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 46
Myxoma - Spotty Pigmentation - Endocrine Overactivity 46
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 52
Carney Myxoma-Endocrine Complex 46
Carney Complex, Type Ii 12
Familial Myxoma 23
Cacov 68
Cnc1 46

Characteristics:

HPO:

62
carney complex variant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 608837
Disease Ontology11 DOID:0050471
MeSH37 D056733
NCIt43 C4705
SNOMED-CT60 239132009
Orphanet52 ORPHA319340
ICD10 via Orphanet29 Q68.8
MedGen35 C1837245
UMLS66 C0406810, C1854540, C2607929

Summaries for Carney Complex Variant

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UniProtKB/Swiss-Prot:68 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 lethal arteriopathy syndrome due to fibulin-4 deficiency, and has symptoms including cushingoid facies, cushingoid facies and pigmentation lip. An important gene associated with Carney Complex Variant is MYH8 (Myosin Heavy Chain 8), and among its related pathways are AhR pathway (WikiPathways) and Development EGFR signaling via small GTPases. Affiliated tissues include skin, bone and pituitary, and related mouse phenotypes are craniofacial and neoplasm.

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

NIH Rare Diseases:46 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)

Genetics Home Reference:24 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.

Description from OMIM:50 608837

GeneReviews summary 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 top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1carney complex, type 112.4
2lethal arteriopathy syndrome due to fibulin-4 deficiency10.6AIP, MEN1
3medich giant platelet syndrome10.6AIP, MEN1
4als2-related disorders10.4AIP, GNAS
5pseudohypoparathyroidism, type ib10.4GNAS, PRKAR1A
6malignant spindle cell melanoma10.3MEN1, PRKAR1A
7epileptic encephalopathy, early infantile, 2610.3GNAS, PDE11A
8familial progressive cardiac conduction defect10.3AIP, CDKN1B
9adenoma10.3
10prolactin producing pituitary tumor10.3AIP, MEN1, PRKAR1A
11primary pigmented nodular adrenocortical disease10.2
12mobitz type ii atrioventricular block10.2AIP, POMC
13pituitary adenoma10.2
14retinal microaneurysm10.2AIP, POMC
15pigmented nodular adrenocortical disease, primary, 110.1
16central retinal vein occlusion10.1AIP, POMC
17vacterl association10.1GNAS, PRKAR1A
18peritoneal benign neoplasm10.1POMC, PRKAR1A
19peutz-jeghers syndrome10.1
20nonsyndromic holoprosencephaly10.1AIP, CDKN1B, MEN1
21malignant mediastinum hemangiopericytoma10.0CDKN1B, MEN1
22adrenal medulla cancer10.0AIP, GNAS, MEN1, PRKAR1A
23lipoadenoma10.0AIP, MEN1, POMC
24pituitary adenoma, growth hormone-secreting10.0
25thyroid cancer, nonmedullary, 210.0
26thyroid cancer, monmedullary, 110.0
27acth-independent macronodular adrenal hyperplasia10.0
28gigantism10.0
29thyroiditis10.0
30multiple endocrine neoplasia10.0
31loeffler endocarditis10.0PDE11A, POMC, PRKAR1A
32nasopharyngeal disease10.0PDE11A, POMC, PRKAR1A
33breast scirrhous carcinoma10.0CDKN1B, GNAS
34cardiovascular organ benign neoplasm9.9AIP, MEN1, POMC
35vestibular gland benign neoplasm9.9AIP, MEN1, POMC
36cold-induced sweating syndrome 29.9AIP, GNAS, POMC
37sertoli cell tumor9.9
38aneurysm9.9
39pituitary adenoma, prolactin-secreting9.9AIP, GNAS
40ehlers-danlos syndrome, type viii9.9AIP, CDKN1B, MEN1, PRKAR1A
41immunodeficiency, common variable, 59.8CDKN1B, GNAS, MEN1, PRKAR1A
42hepatocellular carcinoma9.8
43adrenal cortical carcinoma9.8
44male infertility9.8
45intracranial aneurysm9.8
46cushing's syndrome9.8
47acrodysostosis9.8
48thyroid cancer9.8
49melanoma9.8
50acromegaly9.8

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



Diseases related to carney complex variant

Symptoms for Carney Complex Variant

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Clinical features from OMIM:

608837

HPO human phenotypes related to Carney Complex Variant:

id Description Frequency HPO Source Accession
1 trismus HP:0000211
2 distal arthrogryposis HP:0005684
3 cardiac myxoma HP:0011672

UMLS symptoms related to Carney Complex Variant:


cushingoid facies, pigmentation lip

Drugs & Therapeutics for Carney Complex Variant

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
succinylcholinePhase 3, Phase 2154306-40-15314
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
2
CarboplatinPhase 3194241575-94-410339178, 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+)
3
PaclitaxelPhase 3269133069-62-436314
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
4
CisplatinPhase 3, Phase 2261415663-27-184093, 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)
5
Epinephrine88651-43-45816
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cisplatin and Radiation Therapy With or Without Carboplatin and Paclitaxel in Patients With Locally Advanced Cervical CancerRecruitingNCT01414608Phase 3
2Radiation Therapy With or Without Chemotherapy in Patients With Stage I or Stage II Cervical Cancer Who Previously Underwent SurgeryRecruitingNCT01101451Phase 3
3Linsitinib in Treating Patients With Gastrointestinal Stromal TumorsCompletedNCT01560260Phase 2
4Radiation 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
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
7Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in AcromegalyRecruitingNCT01902420

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 Complex25 23 PRKAR1A
2 Carney Complex Variant25 23 MYH8
3 Carney Complex, Type 225

Anatomical Context for Carney Complex Variant

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MalaCards organs/tissues related to Carney Complex Variant:

34
Skin, Bone, Pituitary, Thyroid, Heart, Breast

Animal Models for Carney Complex Variant or affiliated genes

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MGI Mouse Phenotypes related to Carney Complex Variant:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9CDKN1B, FOXI1, GNAS, MEN1, PRKAR1A
2MP:00020068.4AIP, CDKN1B, GNAS, MEN1, POMC, PRKAR1A
3MP:00053857.5AIP, CDKN1B, F10, GNAS, MEN1, POMC
4MP:00107686.8AIP, CDKN1B, F10, FOXI1, GNAS, MEN1
5MP:00053766.8AIP, CDKN1B, F10, FOXI1, GNAS, MEN1
6MP:00036316.5CDKN1B, FOXI1, GNAS, MEN1, PDE11A, POMC

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:

68
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
1NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln)single nucleotide variantPathogenicrs121434590GRCh37Chr 17, 10310241: 10310241

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 39)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7AIP, CDKN1B
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
118.7GNAS, PDE11A, PDE8B, POMC
12
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
138.6GNAS, PRKACB, PRKAR1A, PRKAR1B
14
Show member pathways
8.6GNAS, 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
228.6GNAS, 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
268.6GNAS, PRKACB, PRKAR1A, PRKAR1B
27
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
28
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
29
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
30
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
318.6GNAS, PRKACB, PRKAR1A, PRKAR1B
328.6GNAS, PRKACB, PRKAR1A, PRKAR1B
33
Show member pathways
8.5CDKN1B, PRKACB, PRKAR1A, PRKAR1B
348.4POMC, PRKACB, PRKAR1A, PRKAR1B
35
Show member pathways
8.3GNAS, MYH8, PRKACB, PRKAR1A, PRKAR1B
36
Show member pathways
8.1GNAS, PDE8B, PRKACB, PRKAR1A, PRKAR1B
37
Show member pathways
8.0GNAS, POMC, PRKACB, PRKAR1A, PRKAR1B
38
Show member pathways
7.9F10, GNAS, PDE11A, PRKACB, PRKAR1A, PRKAR1B
39
Show member pathways
7.5CDKN1B, GNAS, POMC, PRKACB, PRKAR1A, PRKAR1B

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:00059529.7PRKACB, PRKAR1A, PRKAR1B
2ciliary baseGO:00975469.4PRKACB, 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 7)
idNameGO IDScoreTop Affiliating Genes
1cAMP catabolic processGO:000619810.2PDE11A, PDE8B
2negative regulation of cyclin-dependent protein serine/threonine kinase activityGO:004573610.0CDKN1B, MEN1
3negative regulation of cAMP-dependent protein kinase activityGO:20004809.9PRKAR1A, PRKAR1B
4activation of protein kinase A activityGO:00341999.4PRKACB, PRKAR1A, PRKAR1B
5cellular response to glucagon stimulusGO:00713779.2PRKACB, PRKAR1A, PRKAR1B
6renal water homeostasisGO:00030919.1PRKACB, PRKAR1A, PRKAR1B
7blood coagulationGO:00075968.6F10, PRKACB, PRKAR1A, PRKAR1B

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

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-AMP phosphodiesterase activityGO:00041159.9PDE11A, PDE8B
23,5-cyclic-nucleotide phosphodiesterase activityGO:00041149.9PDE11A, PDE8B
3cAMP-dependent protein kinase inhibitor activityGO:00048629.8PRKAR1A, PRKAR1B
4cAMP-dependent protein kinase regulator activityGO:00086039.4PRKAR1A, PRKAR1B
5protein kinase A catalytic subunit bindingGO:00342369.1PRKAR1A, PRKAR1B
6cAMP bindingGO:00305529.0PDE11A, PRKAR1A, PRKAR1B

Sources for Carney Complex Variant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet