MCID: CRN243
MIFTS: 35

Carney Complex, Type 1

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

Aliases & Classifications for Carney Complex, Type 1

MalaCards integrated aliases for Carney Complex, Type 1:

Name: Carney Complex, Type 1 53 71 28 13 69
Car 53 72 71 3
Carney Syndrome 53 72 71
Name Syndrome 53 72 71
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 53 71
Carney Myxoma-Endocrine Complex 53 71
Lamb Syndrome 53 71
Cnc1 53 71
Carney Syndrome; Car 53
Carney Complex 1 71
Carney Complex 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see cnc2, )


HPO:

31
carney complex, type 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Carney Complex, Type 1

OMIM : 53 Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; 131100 and MEN2; 171400). Carney complex shows some similarities to McCune-Albright syndrome (MAS; 174800), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; 175200). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001). (160980)

MalaCards based summary : Carney Complex, Type 1, also known as car, is related to carney complex variant and pigmented nodular adrenocortical disease, primary, 1, and has symptoms including abnormality of the eye, congestive heart failure and nevus. An important gene associated with Carney Complex, Type 1 is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha). Affiliated tissues include skin, heart and thyroid.

UniProtKB/Swiss-Prot : 71 Carney complex 1: CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.

CDC : 3 Supported by CDC research, collaborations, or technical assistance (no staff or physical presence)

Wikipedia : 72 Carney complex and its subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions... more...

Related Diseases for Carney Complex, Type 1

Diseases in the Carney Complex Variant family:

Carney Complex, Type 1 Carney Complex, Type 2

Diseases related to Carney Complex, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 carney complex variant 11.3
2 pigmented nodular adrenocortical disease, primary, 1 11.0

Symptoms & Phenotypes for Carney Complex, Type 1

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
congestive heart failure
atrial myxoma
ventricular myxoma

Skin Nails Hair Hair:
hirsutism
red hair

Endocrine Features:
acromegaly
pigmented micronodular adrenal dysplasia
cushing disease
thyroid follicular hyperplasia

Neoplasia:
pheochromocytoma
pituitary adenoma
thyroid carcinoma
schwannoma
myxoid subcutaneous tumors
more
Skin Nails Hair Skin:
profuse pigmented skin lesions
nevi
ephelides
centrofacial/mucosal lentigines
blue nevi

Head And Neck Eyes:
conjunctival and scleral pigmentation
eyelid myxoma


Clinical features from OMIM:

160980

Human phenotypes related to Carney Complex, Type 1:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 31 HP:0000478
2 congestive heart failure 31 HP:0001635
3 nevus 31 HP:0003764
4 pheochromocytoma 31 HP:0002666
5 growth hormone excess 31 HP:0000845
6 pituitary adenoma 31 HP:0002893
7 thyroid carcinoma 31 HP:0002890
8 freckling 31 HP:0001480
9 hirsutism 31 HP:0001007
10 schwannoma 31 HP:0100008
11 red hair 31 HP:0002297
12 profuse pigmented skin lesions 31 HP:0005587
13 thyroid follicular hyperplasia 31 HP:0008225
14 myxoid subcutaneous tumors 31 HP:0006769

Drugs & Therapeutics for Carney Complex, Type 1

Search Clinical Trials , NIH Clinical Center for Carney Complex, Type 1

Genetic Tests for Carney Complex, Type 1

Genetic tests related to Carney Complex, Type 1:

# Genetic test Affiliating Genes
1 Carney Complex, Type 1 28 PRKAR1A

Anatomical Context for Carney Complex, Type 1

MalaCards organs/tissues related to Carney Complex, Type 1:

38
Skin, Heart, Thyroid, Eye, Pituitary

Publications for Carney Complex, Type 1

Articles related to Carney Complex, Type 1:

(show top 50) (show all 278)
# Title Authors Year
1
Comparison among perfect-CAr, zero-PAr, and plates with a cage in single-level cervical degenerative disc disease. ( 29368613 )
2018
2
A rare e14a3 BCR/ABL fusion transcript in acute lymphoblastic leukemia patient treated with CAR-modified T-cell therapy. ( 29434963 )
2018
3
Coccidioidomycosis, immunoglobulin deficiency: safety challenges with CAR T cells therapy for relapsed lymphoma. ( 29032736 )
2017
4
The clinical efficacy of first-generation carcinoembryonic antigen (CEACAM5)-specific CAR T cells is limited by poor persistence and transient pre-conditioning-dependent respiratory toxicity. ( 28660319 )
2017
5
FLAG-tagged CD19-specific CAR-T cells eliminate CD19-bearing solid tumor cells in vitro and in vivo. ( 28410137 )
2017
6
Chimeric Antigen Receptor (CAR) T Cell Therapy for Malignant Pleural Mesothelioma (MPM). ( 28862644 )
2017
7
Pharmacy services after a tank car derailment and toxic chemical release in Blount County, Tennessee. ( 27816541 )
2017
8
Universal CAR T Cells Treat Leukemia. ( 28193774 )
2017
9
Driving the hemophilia tolerance CAR. ( 28082293 )
2017
10
Chimeric antigen receptor (CAR) T and other T cell strategies for pancreas adenocarcinoma. ( 29156888 )
2017
11
Prevalence of Trachoma in Car-Nicobar Island, India after Three Annual Rounds of Mass Drug Administration with Azithromycin. ( 27391274 )
2016
12
Genomewide comparison of the inducible transcriptomes of nuclear receptors CAR, PXR and PPARI+ in primary human hepatocytes. ( 26994748 )
2016
13
The CAR that drives Ca2+ to Orai1. ( 26956483 )
2016
14
Epigallocatechin gallate sensitizes cisplatin-resistant oral cancer CAR cell apoptosis and autophagy through stimulating AKT/STAT3 pathway and suppressing multidrug resistance 1 signaling. ( 27200496 )
2016
15
Plasma IFN-I^ and IL-6 levels correlate with peripheral T-cell numbers but not toxicity in RCC patients treated with CAR T-cells. ( 27377533 )
2016
16
Distinct Signaling of Coreceptors Regulates Specific Metabolism Pathways and Impacts Memory Development in CAR T Cells. ( 26885860 )
2016
17
Loss of cysteinyl-tRNA synthetase (CARS) induces the transsulfuration pathway and inhibits ferroptosis induced by cystine deprivation. ( 26184909 )
2016
18
Irisin Is Regulated by CAR in Liver and Is a Mediator of Hepatic Glucose and Lipid Metabolism. ( 27007446 )
2016
19
Correlation between Autism Treatment Evaluation Checklist (ATEC) and Childhood Autism Rating Scale (CARS) in the evaluation of autism spectrum disorder. ( 27651549 )
2016
20
Evaluation of associations between single nucleotide polymorphisms in the FRMD3 and CARS genes and diabetic nephropathy in a Kuwaiti population. ( 26909942 )
2016
21
Human CAR T cells with cell-intrinsic PD-1 checkpoint blockade resist tumor-mediated inhibition. ( 27454297 )
2016
22
RP-CARS reveals molecular spatial order anomalies in myelin of an animal model of Krabbe disease. ( 26990139 )
2016
23
Expression of hepatic cytochrome P450s and UDP-glucuronosyltransferases in PXR and CAR double humanized mice treated with rifampicin. ( 25835148 )
2015
24
Protein arginine methyltransferase 5 (PRMT5) is a novel coactivator of constitutive androstane receptor (CAR). ( 25721668 )
2015
25
Lovastatin enhances adenovirus-mediated TRAIL induced apoptosis by depleting cholesterol of lipid rafts and affecting CAR and death receptor expression of prostate cancer cells. ( 25605010 )
2015
26
CAR Suppresses Hepatic Gluconeogenesis by Facilitating the Ubiquitination and Degradation of PGC1I+. ( 26407237 )
2015
27
A CAR-responsive enhancer element locating approximately 31 kb upstream in the 5'-flanking region of rat cytochrome P450 (CYP) 3A1 gene. ( 25989892 )
2015
28
Effect of passengers' active head tilt and opening/closure of eyes on motion sickness in lateral acceleration environment of cars. ( 26481809 )
2015
29
Tuning Sensitivity of CAR to EGFR Density Limits Recognition of Normal Tissue While Maintaining Potent Antitumor Activity. ( 26330164 )
2015
30
Patient-derived glioblastoma stem cells are killed by CD133-specific CAR T cells but induce the T cell aging marker CD57. ( 25426558 )
2015
31
Modification of Traffic-related Respiratory Response by Asthma Control in a Population of Car Commuters. ( 25901844 )
2015
32
Heparanase promotes tumor infiltration and antitumor activity of CAR-redirected T lymphocytes. ( 25849134 )
2015
33
Rigorous optimization and validation of potent RNA CAR T cell therapy for the treatment of common epithelial cancers expressing folate receptor. ( 26359629 )
2015
34
Involvement of CAR and PXR in the transcriptional regulation of CYP2B6 gene expression by ingredients from herbal medicines. ( 25869249 )
2015
35
Genome-wide analysis of human constitutive androstane receptor (CAR) transcriptome in wild-type and CAR-knockout HepaRG cells. ( 26275810 )
2015
36
Car Transfer and Wheelchair Loading Techniques in Independent Drivers with Paraplegia. ( 26442253 )
2015
37
IGF1R- and ROR1-Specific CAR T Cells as a Potential Therapy for High Risk Sarcomas. ( 26173023 )
2015
38
Activating CAR and I^-catenin induces uncontrolled liver growth and tumorigenesis. ( 25661872 )
2015
39
A vesicular stomatitis virus glycoprotein epitope-incorporated oncolytic adenovirus overcomes CAR-dependency and shows markedly enhanced cancer cell killing and suppression of tumor growth. ( 26430798 )
2015
40
Systemic treatment with CAR-engineered T cells against PSCA delays subcutaneous tumor growth and prolongs survival of mice. ( 24438073 )
2014
41
A novel RARI+/CAR-mediated mechanism for regulation of human organic solute transporter-I^ gene expression. ( 24264050 )
2014
42
CAR expression in human embryos and hESC illustrates its role in pluripotency and tight junctions. ( 25118298 )
2014
43
The effect of sleep disorder on the work ability of workers in a car accessories manufacturing plant. ( 25678990 )
2014
44
Modified toy cars for mobility and socialization: case report of a child with cerebral palsy. ( 24263247 )
2014
45
Pharmacogenetic effects of regulatory nuclear receptors (PXR, CAR, RXRI+ and HNF4I+) on docetaxel disposition in Chinese nasopharyngeal cancer patients. ( 24193570 )
2014
46
Regional delivery of mesothelin-targeted CAR T cell therapy generates potent and long-lasting CD4-dependent tumor immunity. ( 25378643 )
2014
47
Why patients know more about cars than peripheral artery disease. ( 25239437 )
2014
48
Rethinking Molecular Mimicry in Rheumatic Heart Disease and Autoimmune Myocarditis: Laminin, Collagen IV, CAR, and B1AR as Initial Targets of Disease. ( 25191648 )
2014
49
Coordinated regulation of nuclear receptor CAR by CCRP/DNAJC7, HSP70 and the ubiquitin-proteasome system. ( 24789201 )
2014
50
Rapid assessment of trachoma in underserved population of Car-Nicobar Island, India. ( 23799063 )
2013

Variations for Carney Complex, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Carney Complex, Type 1:

71
# Symbol AA change Variation ID SNP ID
1 PRKAR1A p.Ser9Asn VAR_046894
2 PRKAR1A p.Arg74Cys VAR_046895 rs137853303
3 PRKAR1A p.Arg146Ser VAR_046896
4 PRKAR1A p.Asp183Tyr VAR_046897
5 PRKAR1A p.Ala213Asp VAR_046898 rs281864786
6 PRKAR1A p.Gly289Trp VAR_046899

ClinVar genetic disease variations for Carney Complex, Type 1:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_212472.2(PRKAR1A): c.491_492delTG (p.Val164Aspfs) deletion Pathogenic rs281864790 GRCh37 Chromosome 17, 66520207: 66520208
2 PRKAR1A NM_212472.2(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) indel Pathogenic rs281864785 GRCh37 Chromosome 17, 66525027: 66525028
3 PRKAR1A NM_212472.2(PRKAR1A): c.891+3A> G single nucleotide variant Pathogenic rs281864799 GRCh37 Chromosome 17, 66525135: 66525135
4 PRKAR1A PRKAR1A, 1-BP DEL, 710G deletion Pathogenic
5 PRKAR1A PRKAR1A, 2-BP DEL, 845TC deletion Pathogenic
6 PRKAR1A PRKAR1A, 2-BP DEL, 576TG deletion Pathogenic
7 PRKAR1A NM_212472.2(PRKAR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs281864779 GRCh37 Chromosome 17, 66511541: 66511541
8 PRKAR1A NM_212472.2(PRKAR1A): c.708+1G> T single nucleotide variant Pathogenic rs281864798 GRCh37 Chromosome 17, 66522054: 66522054
9 PRKAR1A NM_212472.2(PRKAR1A): c.101_105delCTATT (p.Ser34Cysfs) deletion Pathogenic rs281864788 GRCh37 Chromosome 17, 66511641: 66511645
10 PRKAR1A NM_212472.2(PRKAR1A): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs281864781 GRCh37 Chromosome 17, 66511649: 66511649
11 PRKAR1A NM_212472.2(PRKAR1A): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs281864782 GRCh37 Chromosome 17, 66511664: 66511664
12 PRKAR1A NM_212472.2(PRKAR1A): c.139delA (p.Met47Trpfs) deletion Pathogenic rs281864789 GRCh37 Chromosome 17, 66511679: 66511679
13 PRKAR1A NM_212472.2(PRKAR1A): c.178-2A> G single nucleotide variant Pathogenic rs281864796 GRCh37 Chromosome 17, 66518895: 66518895
14 PRKAR1A NM_212472.2(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del) deletion Pathogenic GRCh37 Chromosome 17, 66518897: 66519067
15 PRKAR1A NM_212472.2(PRKAR1A): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs281864783 GRCh37 Chromosome 17, 66519005: 66519005
16 PRKAR1A NM_212472.2(PRKAR1A): c.348+1G> C single nucleotide variant Pathogenic rs281864797 GRCh37 Chromosome 17, 66519068: 66519068
17 PRKAR1A NM_212472.2(PRKAR1A): c.550-9_550-2delGCACTTTA deletion Pathogenic rs281864800 GRCh37 Chromosome 17, 66521886: 66521893
18 PRKAR1A NM_212472.2(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs) indel Pathogenic rs281864792 GRCh37 Chromosome 17, 66521911: 66521912
19 PRKAR1A NM_212472.2(PRKAR1A): c.638C> A (p.Ala213Asp) single nucleotide variant Pathogenic rs281864786 GRCh37 Chromosome 17, 66521983: 66521983
20 PRKAR1A NM_212472.2(PRKAR1A): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs281864784 GRCh37 Chromosome 17, 66522027: 66522027
21 PRKAR1A NM_212472.2(PRKAR1A): c.693_694insT (p.Arg232Terfs) insertion Pathogenic rs281864793 GRCh37 Chromosome 17, 66522038: 66522038
22 PRKAR1A NM_212472.2(PRKAR1A): c.712_713insAA (p.Ser238Lysfs) insertion Pathogenic rs281864794 GRCh37 Chromosome 17, 66523983: 66523984
23 PRKAR1A NM_212472.2(PRKAR1A): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs281864780 GRCh37 Chromosome 17, 66511622: 66511622
24 PRKAR1A NM_212472.2(PRKAR1A): c.846_847insA (p.Val283Serfs) insertion Pathogenic rs281864795 GRCh37 Chromosome 17, 66525087: 66525088
25 PRKAR1A NM_212472.2(PRKAR1A): c.85_95delGCGCTGCTCAA (p.Ala29Argfs) deletion Pathogenic rs281864787 GRCh37 Chromosome 17, 66511625: 66511635
26 PRKAR1A NC_000017.11: g.(?_68512379)_(68512548_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68512548
27 PRKAR1A NC_000017.11: g.(?_68512379)_(68533431_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68533431
28 PRKAR1A NC_000017.11: g.(?_68515394)_(68515576_?)del deletion Pathogenic GRCh38 Chromosome 17, 68515394: 68515576
29 PRKAR1A NC_000017.11: g.(?_68528870)_(68530449_?)del deletion Pathogenic GRCh38 Chromosome 17, 68528870: 68530449
30 PRKAR1A NM_212472.2(PRKAR1A): c.177+3A> G single nucleotide variant Pathogenic rs797044568 GRCh37 Chromosome 17, 66511720: 66511720
31 PRKAR1A NM_002734.4(PRKAR1A): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs886041228 GRCh37 Chromosome 17, 66511586: 66511586
32 PRKAR1A NM_002734.4(PRKAR1A): c.502+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 66520219: 66520219

Expression for Carney Complex, Type 1

Search GEO for disease gene expression data for Carney Complex, Type 1.

Pathways for Carney Complex, Type 1

GO Terms for Carney Complex, Type 1

Sources for Carney Complex, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....