MCID: CRN038
MIFTS: 51

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 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 2 11 27
Carney Complex, Type 1 11 68
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
UMLS68 C0406810, C1854540, C2607929

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 pigmented nodular adrenocortical disease, primary, 1, 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 Development EGFR signaling via small GTPases and NgR-p75(NTR)-Mediated Signaling. Affiliated tissues include skin, bone and pituitary, and related mouse phenotypes are Decreased viability and cardiovascular system.

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

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

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

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 top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1carney complex, type 112.4
2pigmented nodular adrenocortical disease, primary, 111.0
3pituitary adenoma, growth hormone-secreting10.9
4thyroid cancer, nonmedullary, 210.9
5thyroid cancer, monmedullary, 110.9
6acth-independent macronodular adrenal hyperplasia10.9
7paragangliomas 1, with or without deafness10.8
8lethal arteriopathy syndrome due to fibulin-4 deficiency10.5AIP, MEN1
9medich giant platelet syndrome10.5AIP, MEN1
10als2-related disorders10.4AIP, GNAS
11pseudohypoparathyroidism, type ib10.3GNAS, PRKAR1A
12familial progressive cardiac conduction defect10.3AIP, CDKN1B
13prolactin producing pituitary tumor10.2AIP, MEN1, PRKAR1A
14glaucoma iridogoniodysgenesia10.2AIP, GPR101
15adenoma10.2
16epileptic encephalopathy, early infantile, 2610.2GNAS, PDE11A
17malignant spindle cell melanoma10.1MEN1, PRKAR1A
18mobitz type ii atrioventricular block10.1AIP, POMC
19primary pigmented nodular adrenocortical disease10.1
20retinal microaneurysm10.1AIP, POMC
21nonsyndromic holoprosencephaly10.1AIP, CDKN1B, MEN1
22pituitary adenoma10.1
23malignant mediastinum hemangiopericytoma10.1CDKN1B, MEN1
24central retinal vein occlusion10.0AIP, POMC
25adrenal medulla cancer10.0AIP, GNAS, MEN1, PRKAR1A
26lipoadenoma10.0AIP, MEN1, POMC
27pituitary adenoma, prolactin-secreting10.0AIP, GNAS, GPR101
28peutz-jeghers syndrome10.0
29loeffler endocarditis9.9PDE11A, POMC, PRKAR1A
30peritoneal benign neoplasm9.9POMC, PRKAR1A
31nasopharyngeal disease9.9PDE11A, POMC, PRKAR1A
32cardiovascular organ benign neoplasm9.9AIP, MEN1, POMC
33ehlers-danlos syndrome, type viii9.9AIP, CDKN1B, MEN1, PRKAR1A
34cold-induced sweating syndrome 29.9AIP, GNAS, POMC
35vestibular gland benign neoplasm9.9AIP, MEN1, POMC
36thyroiditis9.9
37multiple endocrine neoplasia9.9
38immunodeficiency, common variable, 59.8CDKN1B, GNAS, MEN1, PRKAR1A
39cushing's syndrome9.8
40sertoli cell tumor9.8
41aneurysm9.8
42breast scirrhous carcinoma9.7CDKN1B, GNAS
43acute myocarditis9.7GNAS, PDE11A, POMC, PRKAR1A
44male reproductive organ benign neoplasm9.7AIP, GNAS, MEN1, POMC
45hepatocellular carcinoma9.6
46adrenal cortical carcinoma9.6
47male infertility9.6
48intracranial aneurysm9.6
49acrodysostosis9.6
50thyroid cancer9.6

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
id Description HPO Frequency HPO Source Accession
1 trismus64 HP:0000211
2 distal arthrogryposis64 HP:0005684
3 cardiac myxoma64 HP:0011672

UMLS symptoms related to Carney Complex Variant:


cushingoid facies, pigmentation lip

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-19.2CDKN1B, PRKACB, PRKAR1A, PRKAR1B

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.6AIP, CDKN1B, F10, GNAS, MEN1, POMC
2MP:00020068.2AIP, CDKN1B, GNAS, MEN1, POMC, PRKAR1A

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 3198041575-94-410339178, 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 3275833069-62-436314
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 2161306-40-15314
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 2269015663-27-184093, 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 222776
6Albumin-Bound PaclitaxelPhase 32757
7Neuromuscular Depolarizing AgentsPhase 3, Phase 2135
8Neuromuscular Blocking AgentsPhase 3, Phase 2414
9Antineoplastic Agents, PhytogenicPhase 35420
10Antimitotic AgentsPhase 35498
11Neuromuscular AgentsPhase 3, Phase 21129
12
Epinephrineapproved, vet_approved93351-43-45816
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
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nchembio747-comp9
13Hormones13979
14Racepinephrine933
15Epinephryl borate933

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
7Studying 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, Bone, Pituitary, Thyroid, Heart, Breast

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_002734.4(PRKAR1A): c.220C> T (p.Arg74Cys)SNVPathogenicrs137853303GRCh37Chr 17, 66518939: 66518939
2PRKAR1ANM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTAdeletionPathogenicrs281864801GRCh37Chr 17, 66523974: 66523979
3MYH8NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln)SNVPathogenicrs121434590GRCh37Chr 17, 10310241: 10310241
4PRKAR1ANM_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 36)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0GNAS, PRKAR1A, PRKAR1B
29.0PRKACB, PRKAR1A, PRKAR1B
39.0PRKACB, PRKAR1A, PRKAR1B
49.0PRKACB, PRKAR1A, PRKAR1B
59.0PRKACB, PRKAR1A, PRKAR1B
69.0PRKACB, PRKAR1A, PRKAR1B
79.0PRKACB, PRKAR1A, PRKAR1B
8
Show member pathways
9.0PRKACB, PRKAR1A, PRKAR1B
99.0PRKACB, PRKAR1A, PRKAR1B
109.0PRKACB, PRKAR1A, PRKAR1B
118.6GNAS, PDE11A, PDE8B, POMC
128.6GNAS, PRKACB, PRKAR1A, PRKAR1B
13
Show member pathways
8.6GNAS, 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
218.6GNAS, PRKACB, PRKAR1A, PRKAR1B
22
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
23
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
248.6GNAS, PRKACB, PRKAR1A, PRKAR1B
258.6GNAS, PRKACB, PRKAR1A, PRKAR1B
26
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
27
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
28
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
298.6GNAS, PRKACB, PRKAR1A, PRKAR1B
308.6GNAS, PRKACB, PRKAR1A, PRKAR1B
31
Show member pathways
8.6GNAS, PRKACB, PRKAR1A, PRKAR1B
32
Show member pathways
8.5CDKN1B, PRKACB, PRKAR1A, PRKAR1B
338.4POMC, PRKACB, PRKAR1A, PRKAR1B
34
Show member pathways
8.3GNAS, MYH8, PRKACB, PRKAR1A, PRKAR1B
35
Show member pathways
8.0GNAS, POMC, PRKACB, PRKAR1A, PRKAR1B
36
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:00975469.7PRKACB, 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:004573610.1CDKN1B, MEN1
3negative regulation of cAMP-dependent protein kinase activityGO:20004809.9PRKAR1A, PRKAR1B
4activation of protein kinase A activityGO:00341999.6PRKACB, PRKAR1A, PRKAR1B
5cellular response to glucagon stimulusGO:00713779.5PRKACB, PRKAR1A, PRKAR1B
6blood coagulationGO:00075969.2F10, PRKACB, PRKAR1A, PRKAR1B
7renal water homeostasisGO:00030919.0PRKACB, 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: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