CNC1
MCID: CRN243
MIFTS: 43

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 57 75 29 13 6 40 73
Car 57 76 75 3
Carney Syndrome 57 76 75
Name Syndrome 57 76 75
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 57 75
Carney Myxoma-Endocrine Complex 57 75
Lamb Syndrome 57 75
Cnc1 57 75
Carney Syndrome; Car 57
Carney Complex 1 75
Carney Complex 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see cnc2, )


HPO:

32
carney complex, type 1:
Inheritance heterogeneous autosomal dominant inheritance


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)

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). Affiliated tissues include t cells, skin and b cells, and related phenotypes are abnormality of the eye and congestive heart failure

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.

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

UniProtKB/Swiss-Prot : 75 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 : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... 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 13)
# Related Disease Score Top Affiliating Genes
1 carney complex, type 2 11.6
2 carney complex variant 11.5
3 pigmented nodular adrenocortical disease, primary, 1 11.1
4 paragangliomas 1 11.0
5 peutz-jeghers syndrome 9.8
6 gastrointestinal stromal tumor 9.8
7 paraganglioma 9.8
8 nonsyndromic paraganglioma 9.8
9 cerebral aneurysms 9.8
10 melanocytic nevus syndrome, congenital 9.8 PRKAR1A CNC2
11 lentigines 9.7
12 insulin-like growth factor i 9.7
13 multiple endocrine neoplasia, type i 9.7 PRKAR1A CNC2

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

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 45)
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478
2 congestive heart failure 32 occasional (7.5%) HP:0001635
3 nevus 32 HP:0003764
4 pheochromocytoma 32 HP:0002666
5 colon cancer 32 very rare (1%) HP:0003003
6 adrenocortical carcinoma 32 very rare (1%) HP:0006744
7 parathyroid adenoma 32 very rare (1%) HP:0002897
8 growth hormone excess 32 frequent (33%) HP:0000845
9 thyroid adenoma 32 frequent (33%) HP:0000854
10 pituitary adenoma 32 HP:0002893
11 pituitary prolactin cell adenoma 32 occasional (7.5%) HP:0006767
12 pituitary growth hormone cell adenoma 32 frequent (33%) HP:0011760
13 increased urinary cortisol level 32 frequent (33%) HP:0012030
14 neoplasm of the pancreas 32 very rare (1%) HP:0002894
15 multiple lentigines 32 hallmark (90%) HP:0001003
16 enlarged polycystic ovaries 32 frequent (33%) HP:0008675
17 stomach cancer 32 very rare (1%) HP:0012126
18 blue nevus 32 frequent (33%) HP:0100814
19 thyroid carcinoma 32 occasional (7.5%) HP:0002890
20 bronchogenic cyst 32 very rare (1%) HP:0100730
21 uterine neoplasm 32 occasional (7.5%) HP:0010784
22 freckling 32 HP:0001480
23 cafe-au-lait spot 32 very rare (1%) HP:0000957
24 increased circulating cortisol level 32 frequent (33%) HP:0003118
25 pigmented micronodular adrenocortical disease 32 obligate (100%) HP:0001580
26 hirsutism 32 frequent (33%) HP:0001007
27 recurrent paroxysmal headache 32 occasional (7.5%) HP:0002331
28 abnormality of circulating adrenocorticotropin level 32 frequent (33%) HP:0011043
29 abnormal prolactin level 32 frequent (33%) HP:0040086
30 vestibular schwannoma 32 frequent (33%) HP:0009588
31 peripheral schwannoma 32 frequent (33%) HP:0009593
32 schwannoma 32 HP:0100008
33 hepatocellular adenoma 32 very rare (1%) HP:0012028
34 adrenal pheochromocytoma 32 occasional (7.5%) HP:0006748
35 hypertension associated with pheochromocytoma 32 occasional (7.5%) HP:0002640
36 sertoli cell neoplasm 32 very rare (1%) HP:0100619
37 red hair 32 occasional (7.5%) HP:0002297
38 profuse pigmented skin lesions 32 frequent (33%) HP:0005587
39 cardiac myxoma 32 frequent (33%) HP:0011672
40 thyroid follicular hyperplasia 32 frequent (33%) HP:0008225
41 myxoid subcutaneous tumors 32 HP:0006769
42 pigmentation of the sclera 32 occasional (7.5%) HP:0007832
43 osteochondroma 32 very rare (1%) HP:0030431
44 histiocytoma 32 very rare (1%) HP:0012315
45 fibroadenoma of the breast 32 occasional (7.5%) HP:0010619

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 29 PRKAR1A

Anatomical Context for Carney Complex, Type 1

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

41
T Cells, Skin, B Cells, Pituitary, Thyroid, Testes, Bone

Publications for Carney Complex, Type 1

Articles related to Carney Complex, Type 1:

(show top 50) (show all 933)
# Title Authors Year
1
Analysis of body pressure distribution on car seats by using deep learning. ( 30509538 )
2019
2
Using a car phone holder for performing oculoscopy with a universal serial bus dermatoscope. ( 30553300 )
2019
3
Standing Tall: Feasibility of a Modified Ride-On Car That Encourages Standing. ( 30557294 )
2019
4
A comparison of bus passengers' and car drivers' valuation of casualty risk reductions in their routes. ( 30312802 )
2019
5
Cell Cycle and Apoptosis Regulator 1, CCAR1, Regulates Enhancer-Dependent Nuclear Receptor CAR Transactivation. ( 30397001 )
2019
6
Generation of CAR-T Cells for Cancer Immunotherapy. ( 30465215 )
2019
7
MSLN (Mesothelin), ANTXR1 (TEM8), and MUC3A are the potent antigenic targets for CAR T cell therapy of gastric adenocarcinoma. ( 30260046 )
2018
8
Switchable CAR-T cells mediate remission in metastatic pancreatic ductal adenocarcinoma. ( 30121627 )
2018
9
Effects of Exposure to New Car Interiors in Patients With Asthma and Allergic Rhinitis. ( 30245910 )
2018
10
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 )
2018
11
Autobiographical Memory Impairment in Borderline Personality Disorder: A Quantitative Meta-analysis Interpreted in Terms of the CaR-FA-X Model. ( 30036172 )
2018
12
Impact of rapid response car system on ECMO in out-of-hospital cardiac arrest. ( 29656946 )
2018
13
Combination Therapy with EpCAM-CAR-NK-92 Cells and Regorafenib against Human Colorectal Cancer Models. ( 30410941 )
2018
14
Translating anti-CD19 CAR T-cell therapy into clinical practice for relapsed/refractory diffuse large B-cell lymphoma. ( 29914976 )
2018
15
CD19 directed CAR T cell therapy in diffuse large B-cell lymphoma. ( 30042816 )
2018
16
High-Affinity GD2-Specific CAR T Cells Induce Fatal Encephalitis in a Preclinical Neuroblastoma Model. ( 29180536 )
2018
17
Stuttering as the first sign of CAR-T-cell-related encephalopathy syndrome (CRES). ( 30539279 )
2018
18
Novel Human NK Cell Line Carrying CAR Targeting EGFRvIII Induces Antitumor Effects in Glioblastoma Cells. ( 30194149 )
2018
19
Response to the comment on "Trivalent CAR T cells overcome interpatient antigenic variability in glioblastoma" by Bielamowicz et al. ( 29788442 )
2018
20
Temozolomide lymphodepletion enhances CAR abundance and correlates with antitumor efficacy against established glioblastoma. ( 29872570 )
2018
21
Extramedullary relapse of acute lymphoblastic leukemia after allogeneic hematopoietic stem cell transplantation treated by CAR T-cell therapy: a case report. ( 30319272 )
2018
22
Giant Uterine Leiomyoma in a Young Woman as an Incidental Finding After a Car Accident: a Case Report. ( 30012247 )
2018
23
A Unique Human Immunoglobulin Heavy Chain Variable Domain-Only CD33 CAR for the Treatment of Acute Myeloid Leukemia. ( 30524966 )
2018
24
CTL019 (tisagenlecleucel): CAR-T therapy for relapsed and refractory B-cell acute lymphoblastic leukemia. ( 30518999 )
2018
25
CAR-T bridging to allo-HSCT as a treatment strategy for relapsed adult acute B-lymphoblastic leukemia: a case report. ( 30458755 )
2018
26
CD7 CAR T Cells for the Therapy of Acute Myeloid Leukemia. ( 30391141 )
2018
27
Erratum: First-in-man clinical trial of CAR NK-92 cells: safety test of CD33-CAR NK-92 cells in patients with relapsed and refractory acute myeloid leukemia. ( 30323981 )
2018
28
Determinants of response and resistance to CD19 chimeric antigen receptor (CAR) T cell therapy of chronic lymphocytic leukemia. ( 29713085 )
2018
29
Advances in CAR T-cell therapy for chronic lymphocytic leukemia. ( 29741512 )
2018
30
CD19-specific chimeric antigen receptor-modified (CAR)-T cell therapy for the treatment of chronic lymphocytic leukemia in the ibrutinib era. ( 29421980 )
2018
31
Concurrent therapy of chronic lymphocytic leukemia and Philadelphia chromosome-positive acute lymphoblastic leukemia utilizing CD19-targeted CAR T-cells. ( 29043880 )
2018
32
Autocrine-based selection of ligands for personalized CAR-T therapy of lymphoma. ( 30443597 )
2018
33
A Syngeneic Mouse B-Cell Lymphoma Model for Pre-Clinical Evaluation of CD19 CAR T Cells. ( 30394400 )
2018
34
The acceleration of CAR-T therapy in non-Hodgkin lymphoma. ( 30427551 )
2018
35
The promise of CAR T-cell therapy in aggressive B-cell lymphoma. ( 30213399 )
2018
36
CAR-T cell therapy in melanoma: A future success story? ( 30288790 )
2018
37
An Active Suspension System for Mitigating Motion Sickness and Enabling Reading in a Car. ( 30126515 )
2018
38
First-in-man clinical trial of CAR NK-92 cells: safety test of CD33-CAR NK-92 cells in patients with relapsed and refractory acute myeloid leukemia. ( 30034945 )
2018
39
Genetic Inactivation of CD33 in Hematopoietic Stem Cells to Enable CAR T Cell Immunotherapy for Acute Myeloid Leukemia. ( 29856956 )
2018
40
CAR T Cell Therapy for Neuroblastoma. ( 30459759 )
2018
41
Choice of costimulatory domains and of cytokines determines CAR T-cell activity in neuroblastoma. ( 29872565 )
2018
42
Benzyl isothiocyanate (BITC) triggers mitochondria-mediated apoptotic machinery in human cisplatin-resistant oral cancer CAR cells. ( 30141402 )
2018
43
Synergistic inhibitory effects of cetuximab and curcumin on human cisplatin-resistant oral cancer CAR cells through intrinsic apoptotic process. ( 30333889 )
2018
44
The Potential of CAR T Cell Therapy in Pancreatic Cancer. ( 30319627 )
2018
45
Distal Pancreatectomy with Celiac Axis Resection (DP-CAR) for Pancreatic Cancer. How I do It. ( 30105677 )
2018
46
Anti-BCMA CAR-T cells for treatment of plasma cell dyscrasia: case report on POEMS syndrome and multiple myeloma. ( 30348186 )
2018
47
Impaired systemic oxygen extraction in treated exercise pulmonary hypertension: a new engine in an old car? ( 29309261 )
2018
48
CD44v6 as innovative sarcoma target for CAR-redirected CIK cells. ( 29721373 )
2018
49
Simulated car driving and its association with cognitive abilities in patients with schizophrenia. ( 30219605 )
2018
50
The functional verification of EGFR-CAR T-cells targeted to hypopharyngeal squamous cell carcinoma. ( 30410362 )
2018

Variations for Carney Complex, Type 1

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

75
# 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 355)
# 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.491_492delTG (p.Val164Aspfs) deletion Pathogenic rs281864790 GRCh38 Chromosome 17, 68524066: 68524067
3 PRKAR1A NM_212472.2(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) indel Pathogenic rs281864785 GRCh37 Chromosome 17, 66525027: 66525028
4 PRKAR1A NM_212472.2(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) indel Pathogenic rs281864785 GRCh38 Chromosome 17, 68528886: 68528887
5 PRKAR1A NM_212472.2(PRKAR1A): c.891+3A> G single nucleotide variant Pathogenic rs281864799 GRCh37 Chromosome 17, 66525135: 66525135
6 PRKAR1A NM_212472.2(PRKAR1A): c.891+3A> G single nucleotide variant Pathogenic rs281864799 GRCh38 Chromosome 17, 68528994: 68528994
7 PRKAR1A PRKAR1A, 1-BP DEL, 710G deletion Pathogenic
8 PRKAR1A PRKAR1A, 2-BP DEL, 845TC deletion Pathogenic
9 PRKAR1A PRKAR1A, 2-BP DEL, 576TG deletion Pathogenic
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_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh37 Chromosome 17, 66523974: 66523979
17 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh38 Chromosome 17, 68527833: 68527838
18 PRKAR1A NM_002734.4(PRKAR1A): c.204G> A (p.Leu68=) single nucleotide variant Benign/Likely benign rs74863634 GRCh37 Chromosome 17, 66518923: 66518923
19 PRKAR1A NM_002734.4(PRKAR1A): c.204G> A (p.Leu68=) single nucleotide variant Benign/Likely benign rs74863634 GRCh38 Chromosome 17, 68522782: 68522782
20 PRKAR1A NM_002734.4(PRKAR1A): c.349-5dupT duplication Benign/Likely benign rs3841514 GRCh37 Chromosome 17, 66519861: 66519861
21 PRKAR1A NM_002734.4(PRKAR1A): c.349-5dupT duplication Benign/Likely benign rs3841514 GRCh38 Chromosome 17, 68523720: 68523720
22 PRKAR1A NM_002734.4(PRKAR1A): c.87G> A (p.Ala29=) single nucleotide variant Benign/Likely benign rs3730349 GRCh37 Chromosome 17, 66511627: 66511627
23 PRKAR1A NM_002734.4(PRKAR1A): c.87G> A (p.Ala29=) single nucleotide variant Benign/Likely benign rs3730349 GRCh38 Chromosome 17, 68515486: 68515486
24 PRKAR1A NM_212472.2(PRKAR1A): c.101_105delCTATT (p.Ser34Cysfs) deletion Pathogenic rs281864788 GRCh37 Chromosome 17, 66511641: 66511645
25 PRKAR1A NM_212472.2(PRKAR1A): c.101_105delCTATT (p.Ser34Cysfs) deletion Pathogenic rs281864788 GRCh38 Chromosome 17, 68515500: 68515504
26 PRKAR1A NM_212472.2(PRKAR1A): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs281864781 GRCh37 Chromosome 17, 66511649: 66511649
27 PRKAR1A NM_212472.2(PRKAR1A): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs281864781 GRCh38 Chromosome 17, 68515508: 68515508
28 PRKAR1A NM_212472.2(PRKAR1A): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs281864782 GRCh37 Chromosome 17, 66511664: 66511664
29 PRKAR1A NM_212472.2(PRKAR1A): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs281864782 GRCh38 Chromosome 17, 68515523: 68515523
30 PRKAR1A NM_212472.2(PRKAR1A): c.139delA (p.Met47Trpfs) deletion Pathogenic rs281864789 GRCh37 Chromosome 17, 66511679: 66511679
31 PRKAR1A NM_212472.2(PRKAR1A): c.139delA (p.Met47Trpfs) deletion Pathogenic rs281864789 GRCh38 Chromosome 17, 68515538: 68515538
32 PRKAR1A NM_212472.2(PRKAR1A): c.178-2A> G single nucleotide variant Pathogenic rs281864796 GRCh37 Chromosome 17, 66518895: 66518895
33 PRKAR1A NM_212472.2(PRKAR1A): c.178-2A> G single nucleotide variant Pathogenic rs281864796 GRCh38 Chromosome 17, 68522754: 68522754
34 PRKAR1A NM_212472.2(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del) deletion Pathogenic GRCh37 Chromosome 17, 66518897: 66519067
35 PRKAR1A NM_212472.2(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del) deletion Pathogenic GRCh38 Chromosome 17, 68522756: 68522926
36 PRKAR1A NM_212472.2(PRKAR1A): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs281864783 GRCh37 Chromosome 17, 66519005: 66519005
37 PRKAR1A NM_212472.2(PRKAR1A): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs281864783 GRCh38 Chromosome 17, 68522864: 68522864
38 PRKAR1A NM_212472.2(PRKAR1A): c.348+1G> C single nucleotide variant Pathogenic rs281864797 GRCh37 Chromosome 17, 66519068: 66519068
39 PRKAR1A NM_212472.2(PRKAR1A): c.348+1G> C single nucleotide variant Pathogenic rs281864797 GRCh38 Chromosome 17, 68522927: 68522927
40 PRKAR1A NM_212472.2(PRKAR1A): c.550-9_550-2delGCACTTTA deletion Pathogenic rs281864800 GRCh37 Chromosome 17, 66521886: 66521893
41 PRKAR1A NM_212472.2(PRKAR1A): c.550-9_550-2delGCACTTTA deletion Pathogenic rs281864800 GRCh38 Chromosome 17, 68525745: 68525752
42 PRKAR1A NM_212472.2(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs) indel Pathogenic rs281864792 GRCh37 Chromosome 17, 66521911: 66521912
43 PRKAR1A NM_212472.2(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs) indel Pathogenic rs281864792 GRCh38 Chromosome 17, 68525770: 68525771
44 PRKAR1A NM_212472.2(PRKAR1A): c.638C> A (p.Ala213Asp) single nucleotide variant Pathogenic rs281864786 GRCh37 Chromosome 17, 66521983: 66521983
45 PRKAR1A NM_212472.2(PRKAR1A): c.638C> A (p.Ala213Asp) single nucleotide variant Pathogenic rs281864786 GRCh38 Chromosome 17, 68525842: 68525842
46 PRKAR1A NM_212472.2(PRKAR1A): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs281864784 GRCh37 Chromosome 17, 66522027: 66522027
47 PRKAR1A NM_212472.2(PRKAR1A): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs281864784 GRCh38 Chromosome 17, 68525886: 68525886
48 PRKAR1A NM_212472.2(PRKAR1A): c.693_694insT (p.Arg232Terfs) insertion Pathogenic rs281864793 GRCh37 Chromosome 17, 66522038: 66522038
49 PRKAR1A NM_212472.2(PRKAR1A): c.693_694insT (p.Arg232Terfs) insertion Pathogenic rs281864793 GRCh38 Chromosome 17, 68525897: 68525897
50 PRKAR1A NM_212472.2(PRKAR1A): c.712_713insAA (p.Ser238Lysfs) insertion Pathogenic rs281864794 GRCh37 Chromosome 17, 66523983: 66523984

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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