CNC1
MCID: CRN243
MIFTS: 45

Carney Complex, Type 1 (CNC1)

Categories: Bone 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 58 76 30 13 6 41 74
Car 58 77 76 3
Carney Syndrome 58 77 76
Name Syndrome 58 77 76
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 58 76
Carney Myxoma-Endocrine Complex 58 76
Lamb Syndrome 58 76
Cnc1 58 76
Carney Syndrome; Car 58
Carney Complex 1 76
Carney Complex 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see cnc2, )


HPO:

33
carney complex, type 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Carney Complex, Type 1

OMIM : 58 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, type 2 and carney complex variant. An important gene associated with Carney Complex, Type 1 is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and liver, and related phenotypes are abnormality of the eye and congestive heart failure

UniProtKB/Swiss-Prot : 76 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 : 77 The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... 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 all 14)
# Related Disease Score Top Affiliating Genes
1 carney complex, type 2 11.7
2 carney complex variant 11.5
3 pigmented nodular adrenocortical disease, primary, 1 11.2
4 paragangliomas 1 11.0
5 peutz-jeghers syndrome 9.9
6 gastrointestinal stromal tumor 9.9
7 paraganglioma and gastric stromal sarcoma 9.9
8 paraganglioma 9.9
9 nonsyndromic paraganglioma 9.9
10 cerebral aneurysms 9.9
11 lentigines 9.7
12 insulin-like growth factor i 9.7
13 acrodysostosis 9.7 FAM20A PRKAR1A
14 neurofibroma 9.6

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:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 33 HP:0000478
2 congestive heart failure 33 HP:0001635
3 nevus 33 HP:0003764
4 pheochromocytoma 33 HP:0002666
5 growth hormone excess 33 HP:0000845
6 pituitary adenoma 33 HP:0002893
7 thyroid carcinoma 33 HP:0002890
8 freckling 33 HP:0001480
9 hirsutism 33 HP:0001007
10 schwannoma 33 HP:0100008
11 red hair 33 HP:0002297
12 profuse pigmented skin lesions 33 HP:0005587
13 thyroid follicular hyperplasia 33 HP:0008225
14 myxoid subcutaneous tumors 33 HP:0006769

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Carney Complex, Type 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 FAM20A PRKAR1A
2 respiratory system MP:0005388 8.62 FAM20A PRKAR1A

Drugs & Therapeutics for Carney Complex, Type 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3 Hormones
4 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
2 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
3 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
4 Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex Recruiting NCT00001452
5 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

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 30 PRKAR1A

Anatomical Context for Carney Complex, Type 1

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

42
T Cells, Skin, Liver, B Cells, Testes, Thyroid, Heart

Publications for Carney Complex, Type 1

Articles related to Carney Complex, Type 1:

(show top 50) (show all 3015)
# Title Authors Year
1
MSLN (Mesothelin), ANTXR1 (TEM8), and MUC3A are the potent antigenic targets for CAR T cell therapy of gastric adenocarcinoma. ( 30260046 )
2019
2
Switchable CAR-T cells mediate remission in metastatic pancreatic ductal adenocarcinoma. ( 30121627 )
2019
3
Not so crystal clear: observations from a case of crystalline arthritis with cytokine release syndrome (CRS) after chimeric antigen receptor (CAR)-T cell therapy. ( 30291306 )
2019
4
Anti-CD19 CAR-T as a feasible and safe treatment against central nervous system leukemia after intrathecal chemotherapy in adults with relapsed or refractory B-ALL. ( 30846865 )
2019
5
Corrigendum to "Combination Therapy with EpCAM-CAR-NK-92 Cells and Regorafenib against Human Colorectal Cancer Models". ( 31032372 )
2019
6
3D model for CAR-mediated cytotoxicity using patient-derived colorectal cancer organoids. ( 31036555 )
2019
7
Adoptive Transfer of NKG2D CAR mRNA-Engineered Natural Killer Cells in Colorectal Cancer Patients. ( 30962163 )
2019
8
Safety of CAR T-Cell Therapy in Patients with B-Cell Lymphoma and Chronic Hepatitis B or C Virus Infection. ( 31101626 )
2019
9
Combined Antitumor Effects of Sorafenib and GPC3-CAR T Cells in Mouse Models of Hepatocellular Carcinoma. ( 31078430 )
2019
10
Hypoxia Selectively Impairs CAR-T Cells In Vitro. ( 31052261 )
2019
11
CD22 CAR T-cell therapy in refractory or relapsed B acute lymphoblastic leukemia. ( 31110217 )
2019
12
Chronic lymphocytic leukemia cells impair mitochondrial fitness in CD8+ T cells and impede CAR T cell efficacy. ( 31076448 )
2019
13
Clinical utilization of Chimeric Antigen Receptor T-cells (CAR-T) in B-cell acute lymphoblastic leukemia (ALL)-an expert opinion from the European Society for Blood and Marrow Transplantation (EBMT) and the American Society for Blood and Marrow Transplantation (ASBMT). ( 31092900 )
2019
14
Delayed remission following sequential infusion of humanized CD19- and CD22-modified CAR-T cells in a patient with relapsed/refractory acute lymphoblastic leukemia and prior exposure to murine-derived CD19-directed CAR-T cells. ( 30988623 )
2019
15
CAR T Cell-Driven Trogocytosis Induces Antigen-Low Leukemia Relapse. ( 30979705 )
2019
16
Improving CAR T cell immunotherapy-mediated remissions for pediatric leukemia. ( 30985293 )
2019
17
Relapsed B-Acute Lymphoblastic Leukemia with Aberrant Myeloperoxidase Expression Following CAR T-cell Therapy: A Diagnostic Challenge. ( 30916805 )
2019
18
CD19 CAR T cell product and disease attributes predict leukemia remission durability. ( 30860496 )
2019
19
Genetically engineered CAR NK cells display selective cytotoxicity against FLT3-positive B-ALL and inhibit in vivo leukemia growth. ( 30860598 )
2019
20
CD133-directed CAR T-cells for MLL leukemia: on-target, off-tumor myeloablative toxicity. ( 30778134 )
2019
21
Fratricide-resistant CD1a-specific CAR T-cells for the treatment of cortical T-cell acute lymphoblastic leukemia. ( 30796021 )
2019
22
Chimeric Antigen Receptor (CAR) T Cell Therapy in Acute Myeloid Leukemia (AML). ( 30736352 )
2019
23
Current challenges for CAR T-cell therapy of acute myeloid leukemia. ( 30762880 )
2019
24
Clinical trials of dual-target CAR T cells, donor-derived CAR T cells, and universal CAR T cells for acute lymphoid leukemia. ( 30764841 )
2019
25
Allogeneic CAR T cell therapies for leukemia-R1. ( 30632623 )
2019
26
CD7 CAR T Cells for the Therapy of Acute Myeloid Leukemia. ( 30391141 )
2019
27
Next Generation CAR T Cells for the Immunotherapy of High-Grade Glioma. ( 30863720 )
2019
28
CAR-Based Approaches to Cutaneous T-Cell Lymphoma. ( 31058076 )
2019
29
Gluteal Burns from a Car Seat Heater in a Neurologically Intact Patient: A Case Report. ( 31023634 )
2019
30
Outcomes of Patients with Large B-Cell Lymphomas and Progressive Disease Following CD19-Specific CAR T-Cell Therapy. ( 31056762 )
2019
31
CAR T-cell therapy for B-cell lymphomas: clinical trial results of available products. ( 31019670 )
2019
32
CAR T cells mimicking an aggressive lymphoma. ( 30923108 )
2019
33
CAR T-Cell Therapy in Non-Hodgkin Lymphoma Patients. ( 30784033 )
2019
34
A good response of refractory mantel cell lymphoma to haploidentical CAR T cell therapy after failure of autologous CAR T cell therapy. ( 30791947 )
2019
35
Anti-CD19 CAR T cell therapy for lymphoma - off to the races! ( 30814672 )
2019
36
Expansion deficiency of CAR-T cells in patients with lymphoma and resolution by T cell purification. ( 30834515 )
2019
37
The response to lymphodepletion impacts PFS in aggressive non-Hodgkin lymphoma patients treated with CD19 CAR-T cells. ( 30782611 )
2019
38
HER2 CAR-T Cells Eradicate Uveal Melanoma and T-cell Therapy-Resistant Human Melanoma in IL2 Transgenic NOD/SCID IL2 Receptor Knockout Mice. ( 30622115 )
2019
39
Fabrication of Bioactive Rifampicin loaded κ-Car-MA-INH/Nano Hydroxyapatite Composite for Tuberculosis Osteomyelitis Infected Tissue Regeneration. ( 31102805 )
2019
40
Characterization of a Novel Third-Generation Anti-CD24-CAR against Ovarian Cancer. ( 30717444 )
2019
41
CAR T-Cells Targeting the Integrin αvβ6 and Co-Expressing the Chemokine Receptor CXCR2 Demonstrate Enhanced Homing and Efficacy against Several Solid Malignancies. ( 31091832 )
2019
42
Sustained B cell depletion by CD19-targeted CAR T cells is a highly effective treatment for murine lupus. ( 30842314 )
2019
43
Slamming the brakes on lupus with CAR T cells. ( 30952806 )
2019
44
A safe and potent anti-CD19 CAR T cell therapy. ( 31011207 )
2019
45
When CAR Meets Stem Cells. ( 31013813 )
2019
46
Ruthenium-catalyzed ortho-selective CAr-H amination of heteroaryl arenes with di-tert-butyldiaziridinone. ( 31017141 )
2019
47
CAR-T efficacy: is conditioning the key? ( 31023743 )
2019
48
Beyond CAR T Cells: Other Cell-Based Immunotherapeutic Strategies Against Cancer. ( 31024832 )
2019
49
BCMA CAR T cells: the winding path to success. ( 31033482 )
2019
50
Novel approaches to promote CAR T cell function in solid tumors. ( 31038366 )
2019

Variations for Carney Complex, Type 1

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

76
# 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 top 50) (show all 261)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A PRKAR1A, 1-BP DEL, 710G deletion Pathogenic
2 PRKAR1A PRKAR1A, 2-BP DEL, 845TC deletion Pathogenic
3 PRKAR1A PRKAR1A, 2-BP DEL, 576TG deletion Pathogenic
4 PRKAR1A NM_002734.3(PRKAR1A): c.491_492delTG (p.Val164Aspfs) deletion Pathogenic rs281864790 GRCh37 Chromosome 17, 66520207: 66520208
5 PRKAR1A NM_002734.3(PRKAR1A): c.491_492delTG (p.Val164Aspfs) deletion Pathogenic rs281864790 GRCh38 Chromosome 17, 68524066: 68524067
6 PRKAR1A NM_212472.2(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) indel Pathogenic rs281864785 GRCh37 Chromosome 17, 66525027: 66525028
7 PRKAR1A NM_212472.2(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) indel Pathogenic rs281864785 GRCh38 Chromosome 17, 68528886: 68528887
8 PRKAR1A NM_212472.2(PRKAR1A): c.891+3A> G single nucleotide variant Pathogenic rs281864799 GRCh37 Chromosome 17, 66525135: 66525135
9 PRKAR1A NM_212472.2(PRKAR1A): c.891+3A> G single nucleotide variant Pathogenic rs281864799 GRCh38 Chromosome 17, 68528994: 68528994
10 PRKAR1A NM_212472.2(PRKAR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs281864779 GRCh37 Chromosome 17, 66511541: 66511541
11 PRKAR1A NM_212472.2(PRKAR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs281864779 GRCh38 Chromosome 17, 68515400: 68515400
12 PRKAR1A NM_212472.2(PRKAR1A): c.708+1G> T single nucleotide variant Pathogenic rs281864798 GRCh37 Chromosome 17, 66522054: 66522054
13 PRKAR1A NM_212472.2(PRKAR1A): c.708+1G> T single nucleotide variant Pathogenic rs281864798 GRCh38 Chromosome 17, 68525913: 68525913
14 PRKAR1A NM_002734.4(PRKAR1A): c.220C> T (p.Arg74Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853303 GRCh37 Chromosome 17, 66518939: 66518939
15 PRKAR1A NM_002734.4(PRKAR1A): c.220C> T (p.Arg74Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853303 GRCh38 Chromosome 17, 68522798: 68522798
16 PRKAR1A NM_002734.4(PRKAR1A): c.204G> A (p.Leu68=) single nucleotide variant Benign/Likely benign rs74863634 GRCh37 Chromosome 17, 66518923: 66518923
17 PRKAR1A NM_002734.4(PRKAR1A): c.204G> A (p.Leu68=) single nucleotide variant Benign/Likely benign rs74863634 GRCh38 Chromosome 17, 68522782: 68522782
18 PRKAR1A NM_002734.4(PRKAR1A): c.87G> A (p.Ala29=) single nucleotide variant Benign/Likely benign rs3730349 GRCh37 Chromosome 17, 66511627: 66511627
19 PRKAR1A NM_002734.4(PRKAR1A): c.87G> A (p.Ala29=) single nucleotide variant Benign/Likely benign rs3730349 GRCh38 Chromosome 17, 68515486: 68515486
20 PRKAR1A NM_212472.2(PRKAR1A): c.101_105del (p.Ser34Cysfs) deletion Pathogenic rs281864788 GRCh37 Chromosome 17, 66511641: 66511645
21 PRKAR1A NM_212472.2(PRKAR1A): c.101_105del (p.Ser34Cysfs) deletion Pathogenic rs281864788 GRCh38 Chromosome 17, 68515500: 68515504
22 PRKAR1A NM_212472.2(PRKAR1A): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs281864781 GRCh37 Chromosome 17, 66511649: 66511649
23 PRKAR1A NM_212472.2(PRKAR1A): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs281864781 GRCh38 Chromosome 17, 68515508: 68515508
24 PRKAR1A NM_212472.2(PRKAR1A): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs281864782 GRCh37 Chromosome 17, 66511664: 66511664
25 PRKAR1A NM_212472.2(PRKAR1A): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs281864782 GRCh38 Chromosome 17, 68515523: 68515523
26 PRKAR1A NM_212472.2(PRKAR1A): c.139del (p.Met47Trpfs) deletion Pathogenic rs281864789 GRCh37 Chromosome 17, 66511679: 66511679
27 PRKAR1A NM_212472.2(PRKAR1A): c.139del (p.Met47Trpfs) deletion Pathogenic rs281864789 GRCh38 Chromosome 17, 68515538: 68515538
28 PRKAR1A NM_212472.2(PRKAR1A): c.178-2A> G single nucleotide variant Pathogenic rs281864796 GRCh37 Chromosome 17, 66518895: 66518895
29 PRKAR1A NM_212472.2(PRKAR1A): c.178-2A> G single nucleotide variant Pathogenic rs281864796 GRCh38 Chromosome 17, 68522754: 68522754
30 PRKAR1A NM_212472.2(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del) deletion Pathogenic rs1555813158 GRCh37 Chromosome 17, 66518897: 66519067
31 PRKAR1A NM_212472.2(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del) deletion Pathogenic rs1555813158 GRCh38 Chromosome 17, 68522756: 68522926
32 PRKAR1A NM_212472.2(PRKAR1A): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs281864783 GRCh37 Chromosome 17, 66519005: 66519005
33 PRKAR1A NM_212472.2(PRKAR1A): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs281864783 GRCh38 Chromosome 17, 68522864: 68522864
34 PRKAR1A NM_212472.2(PRKAR1A): c.348+1G> C single nucleotide variant Pathogenic rs281864797 GRCh37 Chromosome 17, 66519068: 66519068
35 PRKAR1A NM_212472.2(PRKAR1A): c.348+1G> C single nucleotide variant Pathogenic rs281864797 GRCh38 Chromosome 17, 68522927: 68522927
36 PRKAR1A NM_212472.2(PRKAR1A): c.550-9_550-2del deletion Pathogenic rs281864800 GRCh37 Chromosome 17, 66521886: 66521893
37 PRKAR1A NM_212472.2(PRKAR1A): c.550-9_550-2del deletion Pathogenic rs281864800 GRCh38 Chromosome 17, 68525745: 68525752
38 PRKAR1A NM_212472.2(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs) indel Pathogenic rs281864792 GRCh37 Chromosome 17, 66521911: 66521912
39 PRKAR1A NM_212472.2(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs) indel Pathogenic rs281864792 GRCh38 Chromosome 17, 68525770: 68525771
40 PRKAR1A NM_212472.2(PRKAR1A): c.638C> A (p.Ala213Asp) single nucleotide variant Pathogenic rs281864786 GRCh37 Chromosome 17, 66521983: 66521983
41 PRKAR1A NM_212472.2(PRKAR1A): c.638C> A (p.Ala213Asp) single nucleotide variant Pathogenic rs281864786 GRCh38 Chromosome 17, 68525842: 68525842
42 PRKAR1A NM_212472.2(PRKAR1A): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs281864784 GRCh37 Chromosome 17, 66522027: 66522027
43 PRKAR1A NM_212472.2(PRKAR1A): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs281864784 GRCh38 Chromosome 17, 68525886: 68525886
44 PRKAR1A NM_212472.2(PRKAR1A): c.693_694insT (p.Arg232Terfs) insertion Pathogenic rs281864793 GRCh37 Chromosome 17, 66522038: 66522038
45 PRKAR1A NM_212472.2(PRKAR1A): c.693_694insT (p.Arg232Terfs) insertion Pathogenic rs281864793 GRCh38 Chromosome 17, 68525897: 68525897
46 PRKAR1A NM_212472.2(PRKAR1A): c.712_713insAA (p.Ser238Lysfs) insertion Pathogenic rs281864794 GRCh37 Chromosome 17, 66523983: 66523984
47 PRKAR1A NM_212472.2(PRKAR1A): c.712_713insAA (p.Ser238Lysfs) insertion Pathogenic rs281864794 GRCh38 Chromosome 17, 68527842: 68527843
48 PRKAR1A NM_212472.2(PRKAR1A): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs281864780 GRCh37 Chromosome 17, 66511622: 66511622
49 PRKAR1A NM_212472.2(PRKAR1A): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs281864780 GRCh38 Chromosome 17, 68515481: 68515481
50 PRKAR1A NM_212472.2(PRKAR1A): c.846_847insA (p.Val283Serfs) insertion Pathogenic rs281864795 GRCh37 Chromosome 17, 66525087: 66525088

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

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