CNC1
MCID: CRN243
MIFTS: 53

Carney Complex, Type 1 (CNC1)

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

Aliases & Classifications for Carney Complex, Type 1

MalaCards integrated aliases for Carney Complex, Type 1:

Name: Carney Complex, Type 1 57 72 29 13 6 39 70
Carney Syndrome 57 73 72 6
Name Syndrome 57 73 72
Car 57 73 72
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 57 72
Carney Myxoma-Endocrine Complex 57 72
Lamb Syndrome 57 72
Cnc1 57 72
Carney Syndrome; Car 57
Carney Complex 1 72
Carney Complex 70
Caries 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see cnc2, )


HPO:

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


Classifications:



Summaries for Carney Complex, Type 1

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Carney Complex, Type 1, also known as carney syndrome, is related to dental caries and carney complex variant. An important gene associated with Carney Complex, Type 1 is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha), and among its related pathways/superpathways is Myometrial Relaxation and Contraction Pathways. The drugs Ethanol and Ciprofloxacin have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and thyroid, and related phenotypes are congestive heart failure and nevus

UniProtKB/Swiss-Prot : 72 Carney complex 1: CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.

Wikipedia : 73 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:

(show top 50) (show all 486)
# Related Disease Score Top Affiliating Genes
1 dental caries 32.4 VPS13B ATP2B3
2 carney complex variant 31.4 PRKAR1A FAM20A ATP2B3
3 pigmented nodular adrenocortical disease, primary, 1 31.3 PRKAR1A FAM20A
4 amelogenesis imperfecta 29.7 PRKAR1A FAM20A
5 hypoplastic amelogenesis imperfecta 29.3 PRKAR1A FAM20A
6 adenoma 29.3 PRKAR1A ATP2B3
7 primary pigmented nodular adrenocortical disease 29.1 PRKAR1A FAM20A ATP2B3
8 conn's syndrome 28.9 PRKAR1A ATP2B3
9 root caries 11.6
10 carney complex, type 2 11.5
11 enamel caries 11.5
12 dentin caries 11.4
13 curly hair-acral keratoderma-caries syndrome 11.3
14 pulpitis 11.0
15 calvarial doughnut lesions with bone fragility 11.0
16 permanent molars, secondary retention of 11.0
17 aplasia of lacrimal and salivary glands 11.0
18 recessive dystrophic epidermolysis bullosa-generalized other 11.0
19 paragangliomas 1 11.0
20 dental pulp necrosis 10.9
21 sjogren syndrome 10.9
22 gingivitis 10.9
23 acrofacial dysostosis, catania type 10.8
24 epidermolysis bullosa dystrophica, autosomal dominant 10.8
25 flynn-aird syndrome 10.8
26 ichthyosis, lamellar, autosomal dominant 10.8
27 johnson neuroectodermal syndrome 10.8
28 otodental dysplasia 10.8
29 singleton-merten syndrome 1 10.8
30 trichodentoosseous syndrome 10.8
31 alopecia-contractures-dwarfism mental retardation syndrome 10.8
32 cockayne syndrome a 10.8
33 cutis laxa, autosomal recessive, type iia 10.8
34 insensitivity to pain, congenital, with anhidrosis 10.8
35 osteopetrosis, autosomal recessive 1 10.8
36 timothy syndrome 10.8
37 catifa syndrome 10.8
38 cockayne syndrome 10.8
39 periapical granuloma 10.8
40 periapical periodontitis 10.8
41 benjamin syndrome 10.8
42 regional odontodysplasia 10.8
43 periodontitis 10.8
44 dental fluorosis 10.8
45 hair whorl 10.7
46 disease by infectious agent 10.7
47 body mass index quantitative trait locus 1 10.6
48 gingival recession 10.5
49 cleft lip 10.5
50 body mass index quantitative trait locus 9 10.5

Graphical network of the top 20 diseases related to Carney Complex, Type 1:



Diseases related to Carney Complex, Type 1

Symptoms & Phenotypes for Carney Complex, Type 1

Human phenotypes related to Carney Complex, Type 1:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
congestive heart failure
atrial myxoma
ventricular myxoma

Skin Nails Hair Hair:
red hair
hirsutism

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

Neoplasia:
pheochromocytoma
thyroid carcinoma
pituitary adenoma
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 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Carney Complex, Type 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.1 VPS13B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.1 PRKAR1A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.1 VPS13B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.1 PRKAR1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.1 VPS13B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.1 VPS13B

MGI Mouse Phenotypes related to Carney Complex, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.92 ATP2B3 FAM20A PRKAR1A VPS13B

Drugs & Therapeutics for Carney Complex, Type 1

Drugs for Carney Complex, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 257)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
3
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
4
Xylometazoline Approved, Investigational Phase 4 526-36-3 5709
5
Lactitol Approved, Investigational Phase 4 585-86-4 157355
6
Eugenol Approved Phase 4 97-53-0 3314
7
Zinc oxide Approved Phase 4 1314-13-2
8
Zinc Approved, Investigational Phase 4 7440-66-6 32051
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
10
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
11
Cetylpyridinium Approved Phase 4 7773-52-6
12
Thymol Approved Phase 4 89-83-8 6989
13
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
14
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
15
Meperidine Approved Phase 4 57-42-1 4058
16
Hydroxyzine Approved Phase 4 68-88-2 3658
17
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
18
Petrolatum Approved, Investigational Phase 4 8009-03-8
19
Iodine Approved, Investigational Phase 4 7553-56-2 807
20
Olaflur Experimental Phase 4 6818-37-7
21
Imidacloprid Vet_approved Phase 4 105827-78-9 86418
22 Protective Agents Phase 4
23 Fluorides, Topical Phase 4
24 Calcium, Dietary Phase 4
25 Caseins Phase 4
26 Fluorophosphate Phase 4
27 Sodium fluoride topical preparation Phase 4
28 Anti-Bacterial Agents Phase 4
29 Antibiotics, Antitubercular Phase 4
30 Neurotransmitter Agents Phase 4
31 Disinfectants Phase 4
32 Anti-Inflammatory Agents Phase 4
33 Propolis Phase 4
34 Bee Products Phase 4
35 Antiprotozoal Agents Phase 4
36 Antiparasitic Agents Phase 4
37 Cytochrome P-450 Enzyme Inhibitors Phase 4
38 Bifidobacterium Phase 4
39 Antirheumatic Agents Phase 4
40 Anti-Inflammatory Agents, Non-Steroidal Phase 4
41 Analgesics, Non-Narcotic Phase 4
42 Fibrinolytic Agents Phase 4
43 Platelet Aggregation Inhibitors Phase 4
44 Cyclooxygenase Inhibitors Phase 4
45 Antipyretics Phase 4
46 Chlorhexidine, thymol drug combination Phase 4
47 Anesthetics, Dissociative Phase 4
48 Excitatory Amino Acid Antagonists Phase 4
49 Dermatologic Agents Phase 4
50 Hypnotics and Sedatives Phase 4

Interventional clinical trials:

(show top 50) (show all 901)
# Name Status NCT ID Phase Drugs
1 Efficacy of Calcium Silicate Pulp-capping; a Randomized Controlled Clinical Trial Unknown status NCT02201641 Phase 4
2 Postoperative Pain After Application of Silver Diamine Fluoride and Glass Ionomer Versus Glass Ionomer Alone Following Minimal Caries Removal Technique in Asymptomatic Young Permanent Teeth With Deep Caries. A Randomized Pilot Study. Unknown status NCT03568474 Phase 4 Silver Diamine Fluoride;Glass Ionomer
3 Dental Caries Management by Risk Assessment: Identification and Treatment of Risk Factors Among Israeli Defence Force (IDF) Personnel Unknown status NCT01142440 Phase 4
4 Reminerlization Potential of Innovative Biomimetic Material Versus Casein Phosphopeptide-amorphous Calcium Phosphate in Caries White Spot Lesions "A Randomized Clinical Trial" Unknown status NCT03823612 Phase 4 Clinpro Tooth Creme;GC tooth mousse
5 Post-operative Pain After Silver Diamine Fluoride Application in Primary Molars With Deep Caries Versus Interim Restorative Therapy Unknown status NCT03563534 Phase 4 Silver Diamine Fluoride;Glass Ionomer
6 Discoloration of Carious Primary Teeth After Application of Silver Diamine Fluoride Versus Sodium Fluoride Varnish: A Randomized Clinical Trial Unknown status NCT03557996 Phase 4 Silver Diamine Fluoride;Sodium Fluoride Varnish
7 Consumption Effect of Probiotic Products on Salivary Cariogenic Bacterial Counts in Preschool Children. Unknown status NCT02692625 Phase 4
8 Postoperative Pain After Application of Silver Diamine Fluoride Verses Sodium Fluoride Varnish in Treatment of Carious Primary Teeth (A Randomized Clinical Trial) Unknown status NCT03554980 Phase 4 Silver Diamine Fluoride;Sodium Fluoride varnish
9 Phase 4 Study Prevention of Incipient Carious Lesions (White Spot Lesions) in Patients With Fixed Orthodontic Appliances Following the Application of Elmex Gel Unknown status NCT00268138 Phase 4 elmex gel
10 Anticaries Effect of Probiotic Lactobacillus Brevis CD2 (Lb CD2). A Randomized Double Blind Interventional Study. Unknown status NCT01778699 Phase 4
11 Clinical and Radiographic Evaluation of Light Cured Resin Modified Calcium Silicate Versus Light Cured Calcium Hydroxide in Indirect Pulp Treatment of Primary Molars Unknown status NCT03791255 Phase 4 Calcium silicate liner;Calcium hydroxide liner
12 Esthetic Effect of Casein Phosphopeptide-Amorphous Calcium Phosphate Varnish Versus Tricalcium Phosphate Varnish on Postorthodontic White Spot Lesions: A Randomized Pilot Study Unknown status NCT03217084 Phase 4 MI varnish GC;White varnish 3M
13 Comparison of Enamel Remineralization Potential of Dentifrices Incorporating Different Fluoride Salts Using an in Situ Caries Model Completed NCT01128946 Phase 4 NaF;SnF;NaMFP
14 Comparison Of The Caries-Protective Effect Of Fluoride Varnish (Duraphat®) With Treatment As Usual In Nursery School Attendees Receiving Preventive Oral Health Support Through The Childsmile Oral Health Improvement Programme: An RCT Completed NCT01674933 Phase 4 Duraphat® Fluoride Varnish
15 Impact of Maternal Xylitol Consumption on Mutans Sterptococci ,Plaque and Caries Levels in Children Completed NCT02036151 Phase 4 xylitol;fluoride varnish application
16 Caries-preventive Effectiveness of a Dentifrice Containing 5.000 Ppm Fluoride - a Randomized Controlled Trial in Adolescents With Fixed Orthodontic Appliances Completed NCT01768390 Phase 4
17 A Randomized Clinical Trial on Preventive and Therapeutic Proximal Sealants Completed NCT02338180 Phase 4
18 The Effectiveness of Sealants in Prevention of Occlusal Caries on Primary Molars Completed NCT01438866 Phase 4
19 Evaluation of Resin Modified Glass Ionomer Liner (Vitrebond™) Versus Calcium Hydroxide as Indirect Pulp Treatment Material Used in Deep Carious Lesions in Primary Molars: A Randomized Clinical Trial Completed NCT03770871 Phase 4 Indirect pulp treatment using Dycal (TM);Indirect pulp treatment using Vitrebond (TM )
20 Efficiency of Triple Antibiotic Mixture and Propolis as Intracanal Medication in Revascularization Process in Immature Apex: A Clinical Study Completed NCT03533231 Phase 4
21 The Effect of Silver Diamine Fluoride (SDF) on Bacteria Involved in Root or Cervical Carious Lesions Using HOMINGS Technology. A Clinical Study Completed NCT02953886 Phase 4
22 MI Varnish and MI Paste Plus in a Caries Prevention and Remineralization Study Completed NCT02424097 Phase 4 CPP-ACP 5% sodium fluoride varnish & 900ppm fluoride paste;1,100pm F-toothpaste and 0.5%NaF rinse
23 Effects of Two Sugar Substituted Chewing Gums Plus Tooth Brushing on Different Caries and Gingivitis Related Variables: a Double Blind, Randomized Controlled Clinical Trial Completed NCT01578603 Phase 4
24 A Study to Measure the Effect of Dentifrice Usage Regime on Delivery and Efficacy of Fluoride Using an In Situ Caries Model Completed NCT01563172 Phase 4 Sodium fluoride / silica and carbopol, 0.5g;Sodium fluoride / silica and carbopol, 1.5g;Sodium fluoride / silica and carbopol, 1.5g
25 Prevention of Dental Caries Lesions With Fluoride Varnish in Erupting First Permanent Molars Completed NCT02592278 Phase 4 Fluoride Varnish;Control Group
26 Economic Evaluation of ART Sealant in Preventing Pit and Fissure Caries in Permanent First Molars in an Asia Population Completed NCT03034837 Phase 4 resin sealant;ART sealant
27 A 2-year Clinical Study on Postoperative Pulpal Complications Arising From the Absence of a Glass-ionomer Lining in Deep Occlusal Resin Composite Restorations Completed NCT01567514 Phase 4
28 BiodentineTM Versus Formocresol Pulpotomy Technique in Primary Molars: A 12-Month Randomized Controlled Clinical Trial Completed NCT03779698 Phase 4 Formocresol
29 Dental Fluorosis Risk by the Use of Acidulated Fluoride Dentifrice: Clinical Trial - Epidemiological Study With Children Residing in an área Without Public Water Fluoridation Completed NCT03761485 Phase 4
30 Comparison of the Effect of Fluoride Remineralizer Gel and Foam: a Randomized Clinical Trial Completed NCT02490592 Phase 4
31 Partial Pulpotomy Treatment Of Immature Permanent Molars: A Randomized Clinical Trial Completed NCT03426046 Phase 4 Pulp Capping Agents
32 Therapeutic Effect of Two Fluoride Varnishes on White Spot Lesions: a Clinical Study Completed NCT00723515 Phase 4 sodium fluoride;sodium fluoride calcium fluoride
33 Bifidobacterium Lactis BB12 and Xylitol Delivered With a Novel Slow-release Pacifier Completed NCT00638677 Phase 4
34 Theracal Versus Formocresol Pulpotomy in Primary Molars Completed NCT04397094 Phase 4 Theracal LC;Formocresol
35 Effect of the Amount of Fluoride Toothpaste on Fluoride Availability in the Oral Fluids in Children Completed NCT03455621 Phase 4
36 Fuji Type VII Sealants Versus Resin Based Sealants. A Clinical Trial Completed NCT02795728 Phase 4
37 Randomized Controlled Trial of Oral Sedatives for Moderate Sedation in Young Children Completed NCT00902395 Phase 4 Midazolam;Midazolam, ketamine
38 Intranasal Sedation With Dexmedetomidine and Ketamine in Pediatric Dentistry (NASO II): Randomized Clinical Trial Completed NCT03290625 Phase 4 Dexmedetomidine Hydrochloride;Ketamine Hydrochloride
39 Evaluation Of Fluoride Uptake By Dentine Following Pretreatment With Silver Diamine Fluoride And Potassium Iodide Under Resin Modified Glass Ionomer Restoration Versus Resin Modified Glass Ionomer Restoration Alone In Carious Primary Molars: (In Vitro Study) Completed NCT04777968 Phase 4 Silver diamine fluoride
40 A Randomised Controlled Trial of Pediatric Sedation for Dental Treatment Using Oral Midazolam or Placebo Completed NCT01795222 Phase 4 Midazolam;Placebo
41 Efficacy, Safety and Cost-effectiveness of Intranasal Sedation With Ketamine and Midazolam in Pediatric Dentistry: a Randomized Clinical Trial Completed NCT02447289 Phase 4 Intranasal ketamine;Oral ketamine;Intranasal midazolam;Oral midazolam
42 Evaluation of the Impact of Fluoride Vanish Application in Dental Prevention Among Institutionalised Elderly People Completed NCT01038817 Phase 4 Duraphat
43 White Spot Lesion Development in Post-orthodontic Patients Following Weekly Application of a 1.25% Fluoride Gel Compared to Placebo Over 6 Months Completed NCT01329731 Phase 4 elmex® gelée;negative control (placebo)
44 The Use of MI Varnish for the Prevention and Reduction of White Spot Lesions in Orthodontic Treatment Completed NCT03446690 Phase 4 MI Varnish
45 Interaction Chlorhexidine-fluoride - a 4-day and 6-week Randomised Clinical Mouthrinse Study Completed NCT02935322 Phase 4 0.12 % chlorhexidine + 0.2 % NaF mouthrinse;0.2 % NaF mouthrinse;0.12% chlorhexidine
46 Comparison of Topical Analgesic With Saline Rinses in Post Extraction Healing Among Hypertensive and Non-hypertensive Subjects Completed NCT02921165 Phase 4 analgesic mouth rinses (dissolved Aspirin);Normal saline rinses.
47 Comparison of Silver Modified and Conventional Atraumatic Restorative Treatment Modalities in Primary Molars in a Group of Egyptian School Children. A Randomized Controlled Trial Recruiting NCT03881020 Phase 4 Silver diamine Fluoride 38%
48 Assessment of Inhibition of Biofilm Formation and Plaque Bacterial Count of Fluoride Varnish Containing Chlorhexidine and Cetylpyridinium Chloride Versus Conventional Fluoride Varnish Among High Caries Risk Patients: Randomized Clinical Trial Recruiting NCT04254835 Phase 4 Cervitec F, Ivoclar Vivadent - Schaan Liechtenstein;Fluor Protector, Ivoclar Vivadent - Schaan Liechtenstein
49 Sedation Versus Protective Stabilization for Dental Treatment of Children With Caries and Negative Behavior at the Dentist: a Non-randomized Clinical Trial Recruiting NCT04119180 Phase 4 Ketamine 50 MG/ML;Midazolam Hcl 2Mg/Ml Syrup
50 Clinical and Radiographic Evaluation of a New Bioactive Ionic Resin Material (ACTIVA™ BioACTIVE) Versus Compomer for Class II Restorations in Primary Molars: A Split Mouth Randomized Clinical Trial Recruiting NCT03516838 Phase 4 ACTIVA™ BioACTIVE;Compomer

Search 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 29 PRKAR1A

Anatomical Context for Carney Complex, Type 1

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

40
Bone, Heart, Thyroid, Kidney, Pituitary, Liver, Ovary

Publications for Carney Complex, Type 1

Articles related to Carney Complex, Type 1:

(show top 50) (show all 101)
# Title Authors PMID Year
1
An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits. 57 6
18056771 2008
2
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. 57 6
11115848 2000
3
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. 57 6
10973256 2000
4
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. 57 6
10974026 2000
5
Bilateral primary pigmented nodular adrenal disease as a component of Carney syndrome - case report. 61 6
28255981 2017
6
Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X). 6 61
17396442 2007
7
Spectrum of malignancy and premalignancy in Carney syndrome. 57 61
9415461 1997
8
Long-read genome sequencing identifies causal structural variation in a Mendelian disease. 6
28640241 2018
9
Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG. 6
25890363 2015
10
Carney complex with biatrial cardiac myxoma. 6
24088910 2014
11
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 6
24170103 2014
12
Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented. 6
22341669 2012
13
Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations. 6
22259056 2012
14
An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other. 6
22785148 2012
15
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. 6
21850686 2011
16
Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected. 6
20924687 2011
17
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. 6
21047926 2011
18
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. 6
20358582 2010
19
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. 6
19293268 2009
20
Ectopic thymus presenting as a thyroid nodule in a patient with the Carney complex. 6
19265501 2009
21
The use of positron emission tomography-computed tomography scan in the evaluation of a patient with Carney complex. 57
18685116 2008
22
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. 6
18241045 2008
23
Large deletions of the PRKAR1A gene in Carney complex. 6
18223213 2008
24
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 6
16464939 2006
25
Clinical phenotypes and molecular genetic mechanisms of Carney complex. 6
15992699 2005
26
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. 6
15371594 2004
27
Epidermal basaloid proliferation in cutaneous myxomas. 6
12950501 2003
28
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. 6
12424709 2002
29
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. 6
12213893 2002
30
Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. 57
11549623 2001
31
Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex). 57
11061550 2000
32
Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex). 57
10440831 1999
33
Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. 57
9843463 1998
34
Carney complex: diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas. 57
9805140 1998
35
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. 57
9709978 1998
36
Syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex). 57
9894167 1998
37
Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex) 57
9215269 1997
38
Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex). 57
9104925 1997
39
Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex). 57
8855810 1996
40
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. 57
8609225 1996
41
The search for Harvey Cushing's patient, Minnie G., and the cause of her hypercortisolism. 57
7802129 1995
42
Multiple lentigines, myxoid tumours and endocrine overactivity; four cases of Carney's complex. 57
1571257 1992
43
Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity). 57
1997386 1991
44
Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50 years later. 57
2586567 1989
45
Ocular pigmented spots and eyelid myxomas. 57
3674187 1987
46
"Syndrome myxoma": a subset of patients with cardiac myxoma associated with pigmented skin lesions and peripheral and endocrine neoplasms. 57
3566983 1987
47
Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity. 57
3729510 1986
48
"Carney's complex". 57
3713260 1986
49
A familial syndrome of cardiac myxomas, myxoid neurofibromata, cutaneous pigmented lesions, and endocrine abnormalities. 57
3465316 1986
50
Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity. 57
3945116 1986

Variations for Carney Complex, Type 1

ClinVar genetic disease variations for Carney Complex, Type 1:

6 (show top 50) (show all 353)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKAR1A NM_212472.2(PRKAR1A):c.709-7_709-2del Microsatellite Pathogenic 12675 rs281864801 GRCh37: 17:66523965-66523970
GRCh38: 17:68527824-68527829
2 PRKAR1A NM_212472.2(PRKAR1A):c.101_105del (p.Ser34fs) Deletion Pathogenic 41380 rs281864788 GRCh37: 17:66511638-66511642
GRCh38: 17:68515497-68515501
3 PRKAR1A NM_212472.2(PRKAR1A):c.109C>T (p.Gln37Ter) SNV Pathogenic 41381 rs281864781 GRCh37: 17:66511649-66511649
GRCh38: 17:68515508-68515508
4 PRKAR1A NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter) SNV Pathogenic 41382 rs281864782 GRCh37: 17:66511664-66511664
GRCh38: 17:68515523-68515523
5 PRKAR1A NM_212472.2(PRKAR1A):c.139del (p.Met47fs) Deletion Pathogenic 41383 rs281864789 GRCh37: 17:66511679-66511679
GRCh38: 17:68515538-68515538
6 PRKAR1A NM_212472.2(PRKAR1A):c.178-2A>G SNV Pathogenic 41384 rs281864796 GRCh37: 17:66518895-66518895
GRCh38: 17:68522754-68522754
7 PRKAR1A NM_212472.2(PRKAR1A):c.178_348del (p.Glu60_Lys116del) Deletion Pathogenic 41385 GRCh37:
GRCh38:
8 PRKAR1A NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter) SNV Pathogenic 41386 rs281864783 GRCh37: 17:66519005-66519005
GRCh38: 17:68522864-68522864
9 PRKAR1A NM_212472.2(PRKAR1A):c.348+1G>C SNV Pathogenic 41387 rs281864797 GRCh37: 17:66519068-66519068
GRCh38: 17:68522927-68522927
10 PRKAR1A NM_212472.2(PRKAR1A):c.550-8_550-1del Deletion Pathogenic 41388 rs281864800 GRCh37: 17:66521886-66521893
GRCh38: 17:68525745-68525752
11 PRKAR1A NM_212472.2(PRKAR1A):c.566_567delinsCAC (p.Glu189fs) Indel Pathogenic 41389 rs281864792 GRCh37: 17:66521911-66521912
GRCh38: 17:68525770-68525771
12 PRKAR1A NM_212472.2(PRKAR1A):c.638C>A (p.Ala213Asp) SNV Pathogenic 41390 rs281864786 GRCh37: 17:66521983-66521983
GRCh38: 17:68525842-68525842
13 PRKAR1A NM_212472.2(PRKAR1A):c.682C>T (p.Arg228Ter) SNV Pathogenic 41391 rs281864784 GRCh37: 17:66522027-66522027
GRCh38: 17:68525886-68525886
14 PRKAR1A NM_212472.2(PRKAR1A):c.693dup (p.Arg232Ter) Duplication Pathogenic 41392 rs281864793 GRCh37: 17:66522037-66522038
GRCh38: 17:68525896-68525897
15 PRKAR1A NM_212472.2(PRKAR1A):c.711_712dup (p.Ser238fs) Duplication Pathogenic 41393 rs281864794 GRCh37: 17:66523982-66523983
GRCh38: 17:68527841-68527842
16 PRKAR1A NM_212472.2(PRKAR1A):c.82C>T (p.Gln28Ter) SNV Pathogenic 41394 rs281864780 GRCh37: 17:66511622-66511622
GRCh38: 17:68515481-68515481
17 PRKAR1A NM_212472.2(PRKAR1A):c.846_847insA (p.Val283fs) Insertion Pathogenic 41395 rs281864795 GRCh37: 17:66525087-66525088
GRCh38: 17:68528946-68528947
18 PRKAR1A NM_212472.2(PRKAR1A):c.85_95del (p.Ala29fs) Deletion Pathogenic 41396 rs281864787 GRCh37: 17:66511621-66511631
GRCh38: 17:68515480-68515490
19 PRKAR1A NM_212472.2(PRKAR1A):c.489_490TG[1] (p.Val164fs) Microsatellite Pathogenic 12662 rs281864790 GRCh37: 17:66520205-66520206
GRCh38: 17:68524064-68524065
20 PRKAR1A NM_212472.2(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) Indel Pathogenic 12663 rs281864785 GRCh37: 17:66525027-66525028
GRCh38: 17:68528886-68528887
21 PRKAR1A NM_212472.2(PRKAR1A):c.891+3A>G SNV Pathogenic 12664 rs281864799 GRCh37: 17:66525135-66525135
GRCh38: 17:68528994-68528994
22 PRKAR1A PRKAR1A, 1-BP DEL, 710G Deletion Pathogenic 12666 GRCh37:
GRCh38:
23 PRKAR1A PRKAR1A, 2-BP DEL, 845TC Deletion Pathogenic 12667 GRCh37:
GRCh38:
24 PRKAR1A PRKAR1A, 2-BP DEL, 576TG Deletion Pathogenic 12668 GRCh37:
GRCh38:
25 PRKAR1A NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val) SNV Pathogenic 12669 rs281864779 GRCh37: 17:66511541-66511541
GRCh38: 17:68515400-68515400
26 PRKAR1A NM_212472.2(PRKAR1A):c.708+1G>T SNV Pathogenic 12672 rs281864798 GRCh37: 17:66522054-66522054
GRCh38: 17:68525913-68525913
27 PRKAR1A NM_212472.2(PRKAR1A):c.623del (p.Gly208fs) Deletion Pathogenic 164995 rs727503379 GRCh37: 17:66521967-66521967
GRCh38: 17:68525826-68525826
28 PRKAR1A NM_212472.2(PRKAR1A):c.177+3A>G SNV Pathogenic 189811 rs797044568 GRCh37: 17:66511720-66511720
GRCh38: 17:68515579-68515579
29 PRKAR1A and overlap with 1 gene(s) NC_000017.11:g.(?_68512379)_(68533431_?)del Deletion Pathogenic 189812 GRCh37:
GRCh38: 17:68512379-68533431
30 PRKAR1A NC_000017.11:g.(?_68512379)_(68512548_?)del Deletion Pathogenic 189813 GRCh37:
GRCh38: 17:68512379-68512548
31 PRKAR1A NC_000017.11:g.(?_68515394)_(68515576_?)del Deletion Pathogenic 189814 GRCh37:
GRCh38: 17:68515394-68515576
32 PRKAR1A and overlap with 1 gene(s) NC_000017.11:g.(?_68528870)_(68530449_?)del Deletion Pathogenic 189815 GRCh37:
GRCh38: 17:68528870-68530449
33 ATP2B3 NM_001001344.2(ATP2B3):c.3594G>T (p.Lys1198Asn) SNV Pathogenic 242886 rs782596945 GRCh37: X:152845687-152845687
GRCh38: X:153580229-153580229
34 VPS13B NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) SNV Pathogenic 56645 rs386834070 GRCh37: 8:100146872-100146872
GRCh38: 8:99134644-99134644
35 PRKAR1A NM_212472.2(PRKAR1A):c.502+1G>A SNV Pathogenic 469066 rs1555813578 GRCh37: 17:66520219-66520219
GRCh38: 17:68524078-68524078
36 PRKAR1A NM_212472.2(PRKAR1A):c.46C>T (p.Arg16Ter) SNV Pathogenic 279877 rs886041228 GRCh37: 17:66511586-66511586
GRCh38: 17:68515445-68515445
37 PRKAR1A NM_212472.2(PRKAR1A):c.177+1G>A SNV Pathogenic 536896 rs1555811753 GRCh37: 17:66511718-66511718
GRCh38: 17:68515577-68515577
38 PRKAR1A NM_212472.2(PRKAR1A):c.764_768del (p.Ile255fs) Deletion Pathogenic 536897 rs1555814477 GRCh37: 17:66524034-66524038
GRCh38: 17:68527893-68527897
39 PRKAR1A NM_212472.2(PRKAR1A):c.660_661TG[1] (p.Val221fs) Microsatellite Pathogenic 570680 rs1568698487 GRCh37: 17:66522005-66522006
GRCh38: 17:68525864-68525865
40 PRKAR1A NM_212472.2(PRKAR1A):c.812dup (p.Leu271fs) Duplication Pathogenic 574526 rs1568701362 GRCh37: 17:66525051-66525052
GRCh38: 17:68528910-68528911
41 PRKAR1A NM_212472.2(PRKAR1A):c.671G>A (p.Trp224Ter) SNV Pathogenic 575134 rs1568698504 GRCh37: 17:66522016-66522016
GRCh38: 17:68525875-68525875
42 PRKAR1A and overlap with 1 gene(s) NC_000017.11:g.(?_68512379)_(68530459_?)del Deletion Pathogenic 583714 GRCh37: 17:66508520-66526600
GRCh38: 17:68512379-68530459
43 PRKAR1A NC_000017.11:g.(?_68515384)_(68529001_?)del Deletion Pathogenic 584116 GRCh37: 17:66511525-66525142
GRCh38: 17:68515384-68529001
44 PRKAR1A and overlap with 1 gene(s) NC_000017.11:g.(?_68515394)_(68530455_?)del Deletion Pathogenic 584268 GRCh37: 17:66511535-66526596
GRCh38: 17:68515394-68530455
45 PRKAR1A NM_212472.2(PRKAR1A):c.289C>T (p.Arg97Ter) SNV Pathogenic 523771 rs1555813217 GRCh37: 17:66519008-66519008
GRCh38: 17:68522867-68522867
46 PRKAR1A NM_002734.5(PRKAR1A):c.431_440del (p.Asn144fs) Deletion Pathogenic 836915 GRCh37: 17:66519948-66519957
GRCh38: 17:68523807-68523816
47 PRKAR1A NC_000017.11:g.(?_68512379)_(68515586_?)del Deletion Pathogenic 830487 GRCh37: 17:66508520-66511727
GRCh38:
48 PRKAR1A NC_000017.11:g.(?_68522746)_(68530459_?)del Deletion Pathogenic 831062 GRCh37: 17:66518887-66526600
GRCh38:
49 PRKAR1A NC_000017.11:g.(?_68512379)_(68524087_?)del Deletion Pathogenic 832947 GRCh37: 17:66508520-66520228
GRCh38:
50 PRKAR1A NM_212472.2(PRKAR1A):c.682C>T (p.Arg228Ter) SNV Pathogenic 41391 rs281864784 GRCh37: 17:66522027-66522027
GRCh38: 17:68525886-68525886

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

72
# 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

Expression for Carney Complex, Type 1

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

Pathways for Carney Complex, Type 1

Pathways related to Carney Complex, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 PRKAR1A ATP2B3

GO Terms for Carney Complex, Type 1

Sources for Carney Complex, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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