CACOV
MCID: CRN038
MIFTS: 53

Carney Complex Variant (CACOV) malady

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

Aliases & Classifications for Carney Complex Variant

Aliases & Descriptions for Carney Complex Variant:

Name: Carney Complex Variant 54 12 24 56 66 13 69
Carney Complex 12 23 50 24 25 29 42 14 69
Carney Syndrome 12 23 50 24 25
Carney Complex, Type 1 12 69
Carney Complex, Type 2 12 29
Lamb Syndrome 12 50
Name Syndrome 12 50
Car 50 3
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 25
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 25
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 50
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 50
Myxoma - Spotty Pigmentation - Endocrine Overactivity 50
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 56
Carney Myxoma-Endocrine Complex 50
Carney Complex, Type Ii 13
Familial Myxoma 24
Cacov 66
Cnc1 50

Characteristics:

GeneReviews:

23
carney complex variant:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The overall penetrance of cnc in those with a prkar1a pathogenic variant is greater than 95% by age 50 years...

Classifications:



External Ids:

OMIM 54 608837
Disease Ontology 12 DOID:0050471
MeSH 42 D056733
NCIt 47 C4705
SNOMED-CT 64 239132009
Orphanet 56 ORPHA319340
ICD10 via Orphanet 34 Q68.8
MedGen 40 C1837245

Summaries for Carney Complex Variant

UniProtKB/Swiss-Prot : 66 Carney complex variant: Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.

MalaCards based summary : Carney Complex Variant, also known as carney complex, is related to carney complex, type 1 and pituitary adenoma, growth hormone-secreting, and has symptoms including recurrent paroxysmal headache, congestive heart failure and colon cancer. An important gene associated with Carney Complex Variant is MYH8 (Myosin Heavy Chain 8), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and IL-2 Pathway. The drugs Carboplatin and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and pituitary, and related phenotypes are Decreased viability and cardiovascular system

Disease Ontology : 12 An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.

Genetics Home Reference : 25 Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.

NIH Rare Diseases : 50 carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. some families with this condition have been found to have mutations in the prkar1a gene. carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. in most cases, an affected person inherits the mutation from one affected parent. last updated: 4/6/2015

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

Description from OMIM: 608837
GeneReviews: NBK1286

Related Diseases for Carney Complex Variant

Diseases in the Carney Complex Variant family:

Carney Complex, Type 1

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

(show all 38)
id Related Disease Score Top Affiliating Genes
1 carney complex, type 1 12.2
2 pituitary adenoma, growth hormone-secreting 10.8
3 paragangliomas 1, with or without deafness 10.8
4 pigmented nodular adrenocortical disease, primary, 1 10.3 MYH8 PRKAR1A
5 spondyloepimetaphyseal dysplasia, isidor type 10.2 AIP MEN1
6 spondylometaphyseal dysplasia, czarny-ratajczak type 10.2 AIP MEN1
7 atp7a-related copper transport disorders 10.2 AIP GNAS
8 familial porencephaly 10.2 AIP CDKN1B
9 pseudohypoparathyroidism, type ib 10.1 GNAS PRKAR1A
10 osseous heteroplasia, progressive 10.1 GNAS MEN1 PRKAR1A
11 glaucoma, hereditary adult type 1a 10.1 AIP GPR101
12 aneurysm 10.1 CDKN1B MEN1 PRKAR1A
13 african histoplasmosis 10.1 AIP POMC
14 vertebral artery occlusion 10.1 AIP POMC
15 epileptic encephalopathy, early infantile, 26 10.1 GNAS PDE11A
16 pituitary adenoma, acth-secreting 10.0 AIP GNAS GPR101
17 subserous uterine fibroid 10.0 CDKN1B MEN1 PRKAR1A
18 uterine ligament cancer 10.0 AIP GNAS MEN1 PRKAR1A
19 pulmonary neuroendocrine tumor 10.0 AIP MEN1 POMC
20 merkel cell carcinoma 10.0 PDE11A POMC PRKAR1A
21 esophagus squamous cell papilloma 10.0 PDE11A POMC PRKAR1A
22 immune system organ benign neoplasm 10.0 AIP MEN1 POMC
23 bowen-conradi syndrome 10.0 AIP CDKN1B MEN1 PRKAR1A
24 early-onset parkinson disease 10.0 MEN1 POMC
25 mitochondrial complex ii deficiency 10.0 MEN1 POMC
26 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.0 AIP GNAS POMC
27 endocrine organ benign neoplasm 10.0 AIP MEN1 POMC
28 rheumatic encephalitis 10.0 GNAS MEN1 POMC
29 leukemia, acute promyelocytic, somatic 10.0 CDKN1B GNAS MEN1 PRKAR1A
30 protein s deficiency 9.9 AIP POMC
31 anisometropia 9.9 GNAS PDE11A POMC PRKAR1A
32 vestibular gland benign neoplasm 9.9 AIP GNAS MEN1 POMC
33 cold-induced sweating syndrome 2 9.8 AIP GNAS MEN1 POMC PRKAR1A
34 adamantinous craniopharyngioma 9.8 AIP GNAS MEN1 POMC PRKAR1A
35 bladder colonic type adenocarcinoma 9.8 AIP GNAS MEN1 POMC PRKAR1A
36 thrombophilia 9.7 AIP GNAS GPR101 MEN1 POMC
37 peeling skin syndrome 9.5 GNAS PDE11A PDE8B POMC PRKACB PRKAR1A
38 cone-rod dystrophy 5 8.4 AIP CDKN1B F10 GNAS GPR101 MEN1

Graphical network of the top 20 diseases related to Carney Complex Variant:



Diseases related to Carney Complex Variant

Symptoms & Phenotypes for Carney Complex Variant

Clinical features from OMIM:

608837

Human phenotypes related to Carney Complex Variant:

32 (show all 40)
id Description HPO Frequency HPO Source Accession
1 recurrent paroxysmal headache 32 HP:0002331
2 congestive heart failure 32 HP:0001635
3 colon cancer 32 HP:0003003
4 adrenocortical carcinoma 32 HP:0006744
5 parathyroid adenoma 32 HP:0002897
6 growth hormone excess 32 HP:0000845
7 thyroid adenoma 32 HP:0000854
8 pituitary prolactin cell adenoma 32 HP:0006767
9 pituitary growth hormone cell adenoma 32 HP:0011760
10 increased urinary cortisol level 32 HP:0012030
11 neoplasm of the pancreas 32 HP:0002894
12 trismus 32 HP:0000211
13 multiple lentigines 32 HP:0001003
14 enlarged polycystic ovaries 32 HP:0008675
15 stomach cancer 32 HP:0012126
16 blue nevus 32 HP:0100814
17 thyroid carcinoma 32 HP:0002890
18 bronchogenic cyst 32 HP:0100730
19 uterine neoplasm 32 HP:0010784
20 increased circulating cortisol level 32 HP:0003118
21 pigmented micronodular adrenocortical disease 32 HP:0001580
22 hirsutism 32 HP:0001007
23 abnormality of circulating adrenocorticotropin level 32 HP:0011043
24 abnormal prolactin level 32 HP:0040086
25 vestibular schwannoma 32 HP:0009588
26 peripheral schwannoma 32 HP:0009593
27 sertoli cell neoplasm 32 HP:0100619
28 cafe-au-lait spot 32 HP:0000957
29 red hair 32 HP:0002297
30 profuse pigmented skin lesions 32 HP:0005587
31 distal arthrogryposis 32 HP:0005684
32 histiocytoma 32 HP:0012315
33 hypertension associated with pheochromocytoma 32 HP:0002640
34 adrenal pheochromocytoma 32 HP:0006748
35 osteochondroma 32 HP:0030431
36 hepatocellular adenoma 32 HP:0012028
37 fibroadenoma of the breast 32 HP:0010619
38 thyroid follicular hyperplasia 32 HP:0008225
39 pigmentation of the sclera 32 HP:0007832
40 cardiac myxoma 32 HP:0011672

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.28 CDKN1B PRKACB PRKAR1A PRKAR1B
2 Decreased viability GR00221-A-2 9.28 PRKAR1A PRKAR1B
3 Decreased viability GR00221-A-3 9.28 PRKAR1A PRKAR1B
4 Decreased viability GR00221-A-4 9.28 PRKAR1A

MGI Mouse Phenotypes related to Carney Complex Variant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 AIP CDKN1B F10 GNAS GPR101 MEN1
2 liver/biliary system MP:0005370 9.43 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
3 neoplasm MP:0002006 9.1 POMC PRKAR1A AIP CDKN1B GNAS MEN1

Drugs & Therapeutics for Carney Complex Variant

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
2
Cisplatin Approved Phase 3,Phase 2 15663-27-1 84093 441203 2767
3
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
4
Succinylcholine Approved Phase 3,Phase 2 306-40-1 5314
5 Albumin-Bound Paclitaxel Phase 3
6 Antimitotic Agents Phase 3
7 Antineoplastic Agents, Phytogenic Phase 3
8 Neuromuscular Agents Phase 3,Phase 2
9 Neuromuscular Blocking Agents Phase 3,Phase 2
10 Neuromuscular Depolarizing Agents Phase 3,Phase 2
11 Peripheral Nervous System Agents Phase 3,Phase 2
12
Epinephrine Approved, Vet_approved 51-43-4 5816
13 Hormones
14 Epinephryl borate
15 Racepinephrine

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cisplatin and Radiation Therapy With or Without Carboplatin and Paclitaxel in Patients With Locally Advanced Cervical Cancer Recruiting NCT01414608 Phase 3
2 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2
3 Radiation Therapy and Cisplatin With or Without Triapine in Treating Patients With Newly Diagnosed Stage IB2, II, or IIIB-IVA Cervical Cancer or Stage II-IVA Vaginal Cancer Recruiting NCT02466971 Phase 2
4 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
5 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
6 Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex Recruiting NCT00001452
7 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
8 Studying the Physical Function and Quality of Life Before and After Surgery in Patients With Stage I Cervical Cancer Recruiting NCT01649089

Search NIH Clinical Center for Carney Complex Variant

Cochrane evidence based reviews: carney complex

Genetic Tests for Carney Complex Variant

Genetic tests related to Carney Complex Variant:

id Genetic test Affiliating Genes
1 Carney Complex 29 24 PRKAR1A
2 Carney Complex Variant 29 24 MYH8
3 Carney Complex, Type 2 29

Anatomical Context for Carney Complex Variant

MalaCards organs/tissues related to Carney Complex Variant:

39
Skin, Thyroid, Pituitary, Heart, Bone, Breast, Pancreas

Publications for Carney Complex Variant

Articles related to Carney Complex Variant:

id Title Authors Year
1
Mutation of perinatal myosin heavy chain associated with a Carney complex variant. ( 15282353 )
2004

Variations for Carney Complex Variant

UniProtKB/Swiss-Prot genetic disease variations for Carney Complex Variant:

66
id Symbol AA change Variation ID SNP ID
1 MYH8 p.Arg674Gln VAR_019810 rs28932773

ClinVar genetic disease variations for Carney Complex Variant:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_212472.2(PRKAR1A): c.708+1G> T single nucleotide variant Pathogenic rs281864798 GRCh37 Chromosome 17, 66522054: 66522054
2 PRKAR1A PRKAR1A, 1-BP DEL, 710G deletion Pathogenic
3 PRKAR1A NM_212472.2(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) indel Pathogenic rs281864785 GRCh38 Chromosome 17, 68528886: 68528887
4 PRKAR1A NM_212472.2(PRKAR1A): c.891+3A> G single nucleotide variant Pathogenic rs281864799 GRCh37 Chromosome 17, 66525135: 66525135
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.491_492delTG (p.Val164Aspfs) deletion Pathogenic rs281864790 GRCh37 Chromosome 17, 66520207: 66520208
9 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh37 Chromosome 17, 66523974: 66523979
10 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh37 Chromosome 17, 10310241: 10310241
11 PRKAR1A NM_212472.2(PRKAR1A): c.101_105delCTATT (p.Ser34Cysfs) deletion Pathogenic rs281864788 GRCh37 Chromosome 17, 66511641: 66511645
12 PRKAR1A NM_212472.2(PRKAR1A): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs281864781 GRCh37 Chromosome 17, 66511649: 66511649
13 PRKAR1A NM_212472.2(PRKAR1A): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs281864782 GRCh37 Chromosome 17, 66511664: 66511664
14 PRKAR1A NM_212472.2(PRKAR1A): c.139delA (p.Met47Trpfs) deletion Pathogenic rs281864789 GRCh37 Chromosome 17, 66511679: 66511679
15 PRKAR1A NM_212472.2(PRKAR1A): c.178-2A> G single nucleotide variant Pathogenic rs281864796 GRCh37 Chromosome 17, 66518895: 66518895
16 PRKAR1A NM_212472.2(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del) deletion Pathogenic GRCh37 Chromosome 17, 66518897: 66519067
17 PRKAR1A NM_212472.2(PRKAR1A): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs281864783 GRCh37 Chromosome 17, 66519005: 66519005
18 PRKAR1A NM_212472.2(PRKAR1A): c.348+1G> C single nucleotide variant Pathogenic rs281864797 GRCh37 Chromosome 17, 66519068: 66519068
19 PRKAR1A NM_212472.2(PRKAR1A): c.550-9_550-2delGCACTTTA deletion Pathogenic rs281864800 GRCh37 Chromosome 17, 66521886: 66521893
20 PRKAR1A NM_212472.2(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs) indel Pathogenic rs281864792 GRCh37 Chromosome 17, 66521911: 66521912
21 PRKAR1A NM_212472.2(PRKAR1A): c.638C> A (p.Ala213Asp) single nucleotide variant Pathogenic rs281864786 GRCh37 Chromosome 17, 66521983: 66521983
22 PRKAR1A NM_212472.2(PRKAR1A): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs281864784 GRCh37 Chromosome 17, 66522027: 66522027
23 PRKAR1A NM_212472.2(PRKAR1A): c.693dupT (p.Arg232Terfs) duplication Pathogenic rs281864793 GRCh37 Chromosome 17, 66522038: 66522038
24 PRKAR1A NM_212472.2(PRKAR1A): c.711_712dupAA (p.Ser238Lysfs) duplication Pathogenic rs281864794 GRCh37 Chromosome 17, 66523983: 66523984
25 PRKAR1A NM_212472.2(PRKAR1A): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs281864780 GRCh37 Chromosome 17, 66511622: 66511622
26 PRKAR1A NM_212472.2(PRKAR1A): c.846_847insA (p.Val283Serfs) insertion Pathogenic rs281864795 GRCh37 Chromosome 17, 66525087: 66525088
27 PRKAR1A NM_212472.2(PRKAR1A): c.85_95delGCGCTGCTCAA (p.Ala29Argfs) deletion Pathogenic rs281864787 GRCh37 Chromosome 17, 66511625: 66511635
28 PRKAR1A NM_002734.4(PRKAR1A): c.623delG (p.Gly208Glufs) deletion Pathogenic rs727503379 GRCh37 Chromosome 17, 66521968: 66521968
29 PRKAR1A NC_000017.11: g.(?_68512379)_(68512548_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68512548
30 PRKAR1A NC_000017.11: g.(?_68512379)_(68533431_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68533431
31 PRKAR1A NC_000017.11: g.(?_68515394)_(68515576_?)del deletion Pathogenic GRCh38 Chromosome 17, 68515394: 68515576
32 PRKAR1A NC_000017.11: g.(?_68528870)_(68530449_?)del deletion Pathogenic GRCh38 Chromosome 17, 68528870: 68530449
33 PRKAR1A NM_212472.2(PRKAR1A): c.177+3A> G single nucleotide variant Pathogenic rs797044568 GRCh37 Chromosome 17, 66511720: 66511720

Expression for Carney Complex Variant

Search GEO for disease gene expression data for Carney Complex Variant.

Pathways for Carney Complex Variant

Pathways related to Carney Complex Variant according to GeneCards Suite gene sharing:

(show all 41)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 F10 GNAS PDE11A PRKACB PRKAR1A PRKAR1B
2
Show member pathways
13.07 CDKN1B GNAS PRKACB PRKAR1A PRKAR1B
3
Show member pathways
12.94 GNAS MYH8 PRKACB PRKAR1A PRKAR1B
4
Show member pathways
12.78 GNAS POMC PRKACB PRKAR1A PRKAR1B
5
Show member pathways
12.71 CDKN1B GNAS PDE8B POMC PRKACB PRKAR1A
6
Show member pathways
12.68 GNAS PRKACB PRKAR1A PRKAR1B
7
Show member pathways
12.55 GNAS PRKACB PRKAR1A PRKAR1B
8
Show member pathways
12.55 GNAS PRKACB PRKAR1A PRKAR1B
9
Show member pathways
12.49 GNAS PRKACB PRKAR1A PRKAR1B
10
Show member pathways
12.47 GNAS PRKACB PRKAR1A PRKAR1B
11
Show member pathways
12.46 GNAS PDE11A PDE8B PRKACB
12
Show member pathways
12.42 GNAS PRKACB PRKAR1A PRKAR1B
13
Show member pathways
12.33 GNAS PRKACB PRKAR1A PRKAR1B
14
Show member pathways
12.3 GNAS PRKACB PRKAR1A PRKAR1B
15
Show member pathways
12.3 GNAS POMC PRKACB PRKAR1A PRKAR1B
16
Show member pathways
12.27 GNAS PRKACB PRKAR1A PRKAR1B
17
Show member pathways
12.25 GNAS PRKACB PRKAR1A PRKAR1B
18 12.24 GNAS PRKACB PRKAR1A PRKAR1B
19
Show member pathways
12.2 GNAS PRKACB PRKAR1A PRKAR1B
20
Show member pathways
12.09 GNAS PRKACB PRKAR1B
21
Show member pathways
12.07 GNAS PRKACB PRKAR1A PRKAR1B
22 12.06 PRKACB PRKAR1A PRKAR1B
23
Show member pathways
12.05 GNAS PRKACB PRKAR1A PRKAR1B
24 12.04 PRKACB PRKAR1A PRKAR1B
25 12.03 GNAS PRKACB PRKAR1A PRKAR1B
26
Show member pathways
12.02 GNAS PRKAR1A PRKAR1B
27 11.96 GNAS PDE11A PDE8B POMC
28
Show member pathways
11.83 GNAS PRKACB PRKAR1A PRKAR1B
29 11.66 PRKACB PRKAR1A PRKAR1B
30
Show member pathways
11.63 GNAS PRKACB PRKAR1A PRKAR1B
31 11.62 GNAS PRKACB PRKAR1A PRKAR1B
32 11.57 GNAS PRKACB PRKAR1A PRKAR1B
33 11.46 PRKACB PRKAR1A PRKAR1B
34 11.42 PRKACB PRKAR1A PRKAR1B
35 11.39 PRKACB PRKAR1A PRKAR1B
36 11.21 PRKACB PRKAR1A PRKAR1B
37 11.14 PRKACB PRKAR1A PRKAR1B
38 11.07 PRKACB PRKAR1B
39 11.07 POMC PRKACB PRKAR1A PRKAR1B
40 10.85 GNAS PRKACB PRKAR1A PRKAR1B
41 10.29 GNAS PRKACB PRKAR1A PRKAR1B

GO Terms for Carney Complex Variant

Cellular components related to Carney Complex Variant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.85 AIP CDKN1B GNAS MEN1 MYH8 PDE11A
2 ciliary base GO:0097546 9.13 PRKACB PRKAR1A PRKAR1B
3 cAMP-dependent protein kinase complex GO:0005952 8.8 PRKACB PRKAR1A PRKAR1B

Biological processes related to Carney Complex Variant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.95 AIP GNAS GPR101 PDE11A PDE8B POMC
2 blood coagulation GO:0007596 9.56 F10 PRKACB PRKAR1A PRKAR1B
3 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.46 CDKN1B MEN1
4 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.43 GNAS GPR101
5 cAMP catabolic process GO:0006198 9.37 PDE11A PDE8B
6 activation of protein kinase A activity GO:0034199 9.33 PRKACB PRKAR1A PRKAR1B
7 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.32 PRKAR1A PRKAR1B
8 cellular response to glucagon stimulus GO:0071377 9.26 GNAS PRKACB PRKAR1A PRKAR1B
9 renal water homeostasis GO:0003091 8.92 GNAS PRKACB PRKAR1A PRKAR1B

Molecular functions related to Carney Complex Variant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.37 PDE11A PDE8B
2 3,5-cyclic-AMP phosphodiesterase activity GO:0004115 9.32 PDE11A PDE8B
3 protein kinase A catalytic subunit binding GO:0034236 9.26 PRKAR1A PRKAR1B
4 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.16 PRKAR1A PRKAR1B
5 cAMP-dependent protein kinase regulator activity GO:0008603 8.96 PRKAR1A PRKAR1B
6 cAMP binding GO:0030552 8.8 PDE11A PRKAR1A PRKAR1B

Sources for Carney Complex Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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