MCID: CRN038
MIFTS: 59

Carney Complex Variant

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

Aliases & Classifications for Carney Complex Variant

MalaCards integrated aliases for Carney Complex Variant:

Name: Carney Complex Variant 53 12 55 71 28 13 69
Carney Complex 12 23 49 24 36 28 41 14 69
Carney Syndrome 12 23 49 24
Carney Complex, Type 1 12 69
Name Syndrome 12 49
Lamb Syndrome 12 49
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 24
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 24
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 49
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 49
Myxoma - Spotty Pigmentation - Endocrine Overactivity 49
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 55
Carney Myxoma-Endocrine Complex 49
Carney Complex, Type 2 12
Cacov 71
Cnc1 49
Car 49

Characteristics:

HPO:

31
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:



Summaries for Carney Complex Variant

UniProtKB/Swiss-Prot : 71 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 acth-independent macronodular adrenal hyperplasia and gigantism, 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 Signaling by GPCR and Response to elevated platelet cytosolic Ca2+. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and pituitary, and related phenotypes are Decreased viability in esophageal squamous lineage and Decreased viability after gemcitabine stimulation

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

Genetics Home Reference : 24 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 : 49 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

Description from OMIM: 608837
GeneReviews: NBK1286

Related Diseases for Carney Complex Variant

Diseases in the Carney Complex Variant family:

Carney Complex, Type 1 Carney Complex, Type 2

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 31.5 GNAS PDE11A
2 gigantism 31.5 AIP GPR101
3 primary pigmented nodular adrenocortical disease 31.2 GNAS PDE11A PDE8B POMC PRKACB PRKAR1A
4 acromegaly 31.1 AIP GNAS GPR101 MEN1 POMC
5 multiple endocrine neoplasia 30.2 CDKN1B MEN1 PRKAR1A
6 lentigines 29.8 CNC2 MEN1 POMC PRKAR1A
7 conn's syndrome 29.8 GNAS MEN1 POMC
8 multiple endocrine neoplasia, type i 29.5 CDKN1B GNAS MEN1 PRKAR1A
9 adenoma 29.5 AIP GNAS GPR101 MEN1 POMC
10 pituitary tumors 29.5 AIP GNAS MEN1 POMC
11 pituitary adenoma 29.4 AIP GNAS GPR101 MEN1 POMC
12 carney complex, type 1 12.5
13 carney complex, type 2 12.2
14 pigmented nodular adrenocortical disease, primary, 1 11.1
15 thyroid cancer, nonmedullary, 2 11.0
16 thyroid cancer, nonmedullary, 1 11.0
17 thyroid cancer, nonmedullary, 3 11.0
18 neurilemmoma 11.0
19 adrenal carcinoma 11.0
20 silent pituitary adenoma 10.5 AIP MEN1
21 null pituitary adenoma 10.5 AIP MEN1
22 pseudopseudohypoparathyroidism 10.3 GNAS PRKAR1A
23 growth hormone secreting pituitary adenoma 10.3 AIP GNAS PRKAR1A
24 familial isolated pituitary adenoma 10.2 AIP CDKN1B CNC2
25 pituitary apoplexy 10.2 AIP POMC
26 primary hyperparathyroidism 10.1 CDKN1B MEN1 PRKAR1A
27 pituitary carcinoma 10.1 GNAS POMC
28 hyperparathyroidism 10.1 CDKN1B MEN1 PRKAR1A
29 functioning pituitary adenoma 10.1 AIP MEN1 POMC
30 hyperpituitarism 10.1 AIP POMC
31 adrenal cortex disease 10.1 PDE11A POMC PRKAR1A
32 hormone producing pituitary cancer 10.1 AIP GNAS MEN1 PRKAR1A
33 adrenal gland disease 10.1 PDE11A POMC PRKAR1A
34 melanotic neurilemmoma 10.1
35 endocrine organ benign neoplasm 10.1 AIP MEN1 POMC
36 organ system benign neoplasm 10.1 AIP MEN1 POMC
37 multiple endocrine neoplasia, type iv 10.1 AIP CDKN1B MEN1 PRKAR1A
38 melanocytic nevus syndrome, congenital 10.0 CNC2 PRKAR1A
39 peutz-jeghers syndrome 10.0
40 acth-secreting pituitary adenoma 10.0 GNAS POMC
41 mccune-albright syndrome 10.0
42 sertoli cell tumor 10.0
43 thyroiditis 10.0
44 cell type benign neoplasm 9.9 AIP GNAS MEN1 POMC
45 adrenal gland hyperfunction 9.9
46 cushing syndrome, familial 9.9
47 aneurysm 9.9
48 pituitary adenoma, prolactin-secreting 9.8 AIP GNAS MEN1 POMC PRKAR1A
49 acrodysostosis 1 with or without hormone resistance 9.7
50 hepatocellular carcinoma 9.7

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:

31 (show all 40)
# Description HPO Frequency HPO Source Accession
1 recurrent paroxysmal headache 31 occasional (7.5%) HP:0002331
2 congestive heart failure 31 occasional (7.5%) HP:0001635
3 colon cancer 31 very rare (1%) HP:0003003
4 adrenocortical carcinoma 31 very rare (1%) HP:0006744
5 parathyroid adenoma 31 very rare (1%) HP:0002897
6 growth hormone excess 31 frequent (33%) HP:0000845
7 thyroid adenoma 31 frequent (33%) HP:0000854
8 pituitary prolactin cell adenoma 31 occasional (7.5%) HP:0006767
9 pituitary growth hormone cell adenoma 31 frequent (33%) HP:0011760
10 increased urinary cortisol level 31 frequent (33%) HP:0012030
11 neoplasm of the pancreas 31 very rare (1%) HP:0002894
12 trismus 31 HP:0000211
13 multiple lentigines 31 hallmark (90%) HP:0001003
14 enlarged polycystic ovaries 31 frequent (33%) HP:0008675
15 stomach cancer 31 very rare (1%) HP:0012126
16 blue nevus 31 frequent (33%) HP:0100814
17 thyroid carcinoma 31 occasional (7.5%) HP:0002890
18 bronchogenic cyst 31 very rare (1%) HP:0100730
19 uterine neoplasm 31 occasional (7.5%) HP:0010784
20 cafe-au-lait spot 31 very rare (1%) HP:0000957
21 increased circulating cortisol level 31 frequent (33%) HP:0003118
22 pigmented micronodular adrenocortical disease 31 obligate (100%) HP:0001580
23 hirsutism 31 frequent (33%) HP:0001007
24 abnormality of circulating adrenocorticotropin level 31 frequent (33%) HP:0011043
25 abnormal prolactin level 31 frequent (33%) HP:0040086
26 vestibular schwannoma 31 frequent (33%) HP:0009588
27 peripheral schwannoma 31 frequent (33%) HP:0009593
28 hepatocellular adenoma 31 very rare (1%) HP:0012028
29 adrenal pheochromocytoma 31 occasional (7.5%) HP:0006748
30 hypertension associated with pheochromocytoma 31 occasional (7.5%) HP:0002640
31 sertoli cell neoplasm 31 very rare (1%) HP:0100619
32 red hair 31 occasional (7.5%) HP:0002297
33 profuse pigmented skin lesions 31 frequent (33%) HP:0005587
34 cardiac myxoma 31 frequent (33%) HP:0011672
35 thyroid follicular hyperplasia 31 frequent (33%) HP:0008225
36 pigmentation of the sclera 31 occasional (7.5%) HP:0007832
37 osteochondroma 31 very rare (1%) HP:0030431
38 distal arthrogryposis 31 HP:0005684
39 histiocytoma 31 very rare (1%) HP:0012315
40 fibroadenoma of the breast 31 occasional (7.5%) HP:0010619

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.28 ASMTL CDKN1B GNAS MEN1 PDE8B POMC
2 Decreased viability after gemcitabine stimulation GR00107-A-2 9.13 PRKACB PRKAR1A PRKAR2B

MGI Mouse Phenotypes related to Carney Complex Variant:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.7 AIP CDKN1B GNAS POMC PRKAR1A PRKAR1B
2 liver/biliary system MP:0005370 9.5 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
3 neoplasm MP:0002006 9.1 AIP CDKN1B GNAS MEN1 POMC PRKAR1A

Drugs & Therapeutics for Carney Complex Variant

Drugs for Carney Complex Variant (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
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 Variant

Cochrane evidence based reviews: carney complex

Genetic Tests for Carney Complex Variant

Genetic tests related to Carney Complex Variant:

# Genetic test Affiliating Genes
1 Carney Complex 28
2 Carney Complex Variant 28 MYH8

Anatomical Context for Carney Complex Variant

MalaCards organs/tissues related to Carney Complex Variant:

38
Skin, Thyroid, Pituitary, Bone, Heart, Breast, Pancreas

Publications for Carney Complex Variant

Articles related to Carney Complex Variant:

(show top 50) (show all 205)
# Title Authors Year
1
An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report. ( 28276158 )
2017
2
Fibrolamellar Carcinoma in the Carney Complex: PRKAR1A Loss Instead of the Classic DNAJB1-PRKACA Fusion. ( 29222914 )
2017
3
Association of Carney Complex with an Intronic Splice Site Mutation in the PRKAR1A Gene. ( 26788925 )
2016
4
Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures. ( 27377598 )
2016
5
Successful pregnancy and delivery in a patient with Carney complex: implications for anesthesiologists. ( 25612273 )
2015
6
Biatrial Myxomas With Various Manifestationsa88- Carney Complex. ( 25833082 )
2015
7
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family. ( 26416542 )
2015
8
Defects of the Carney complex gene (PRKAR1A) in odontogenic tumors. ( 25870248 )
2015
9
Carney complex: one more entity with skin and bone manifestations. ( 25590407 )
2015
10
Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG. ( 25890363 )
2015
11
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex. ( 26405036 )
2015
12
A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex. ( 26354069 )
2015
13
MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics. ( 25592387 )
2015
14
Sporadic Carney Complex without PRKAR1A Mutation in a Young Patient with Ischemic Stroke. ( 25576349 )
2015
15
Isolated Large Cell Calcifying Sertoli Cell Tumor in a Young Boy, not Associated with Peutz-Jeghers Syndrome or Carney Complex. ( 26587565 )
2015
16
Pigmented epithelioid melanocytoma on the glans penis not associated with Carney complex. ( 24612297 )
2014
17
Recurrent right ventricular cardiac myxoma in a patient with Carney complex: a case report. ( 24886234 )
2014
18
Carney complex presenting with a unilateral adrenocortical nodule: a case report. ( 24499519 )
2014
19
Mitotane and Carney Complex: ten years follow-up of a low-dose mitotane regimen inducing a sustained correction of hypercortisolism. ( 25402388 )
2014
20
Carney complex: fourth time excision of recurrent atrial myxoma via left thoracotomy. ( 24789151 )
2014
21
Cutaneous myxoma: an important clue to Carney complex. ( 25118746 )
2014
22
Hepato-pancreato-biliary lesions are present in both Carney complex and McCune Albright syndrome: comments on P. Salpea and C. Stratakis. ( 24161590 )
2014
23
Knockdown of PRKAR1A, the gene responsible for Carney complex, interferes with differentiation in osteoblastic cells. ( 24506536 )
2014
24
PRKACB and Carney complex. ( 24571725 )
2014
25
Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma. ( 25336503 )
2014
26
Carney complex: a rare cause of Cushing syndrome in pregnancy. ( 25004313 )
2014
27
Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing. ( 24170103 )
2014
28
Tumorectomy with right thoracotomy for synchronous left atrial myxomas from Carney complex: report of a case. ( 23052755 )
2014
29
PKA RII+ Homodimer Structure Reveals an Intermolecular Interface with Implications for Cooperative cAMP Binding and Carney Complex Disease. ( 24316401 )
2014
30
Recurrence of Carney complex atrial myxoma causing embolic stroke. ( 24621290 )
2014
31
Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion. ( 24144965 )
2014
32
Epithelioid and fusiform blue nevus of chronically sun-damaged skin, an entity distinct from the epithelioid blue nevus of the Carney complex. ( 22892599 )
2013
33
Pituitary adenoma with mucin cells in a man with an unusual presentation of Carney complex. ( 23640426 )
2013
34
Carney Complex with Right Ventricular Myxoma following Second Excision of Left Atrial Myxoma. ( 23995348 )
2013
35
Carney complex. ( 23652670 )
2013
36
Carney complex and McCune Albright syndrome: An overview of clinical manifestations and human molecular genetics. ( 24012779 )
2013
37
A complicated case of Carney complex: fifth reoperative cardiac surgery for resection of recurrent cardiac myxoma. ( 23866852 )
2013
38
Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters. ( 24122441 )
2013
39
The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation. ( 23315333 )
2013
40
Carney Complex with Biatrial Cardiac Myxoma. ( 24088910 )
2013
41
Obstructive right atrial myxoma in association with Carney complex. ( 23266189 )
2013
42
Epithelioid blue nevus not associated with Carney complex in a Korean patient. ( 22772645 )
2012
43
A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. ( 22112814 )
2012
44
Myxoma of the ear lobe in a 23-month-old girl with Carney complex. ( 21880053 )
2012
45
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. ( 22785148 )
2012
46
Biatrial myxomas with Carney complex. ( 22879562 )
2012
47
Novel Mutation in PRKAR1A in Carney Complex. ( 23323113 )
2012
48
A novel PRKAR1A mutation in Korean Carney complex family. ( 22020668 )
2012
49
Spectrum of cutaneous and soft tissue lesions in two Carney complex patients-adnexal induction versus authentic adnexal neoplasms. ( 22588545 )
2012
50
Carney complex and teratoma maturum ovarii--a case report. ( 23327071 )
2012

Variations for Carney Complex Variant

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

71
# Symbol AA change Variation ID SNP ID
1 MYH8 p.Arg674Gln VAR_019810 rs121434590

ClinVar genetic disease variations for Carney Complex Variant:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_212472.2(PRKAR1A): c.491_492delTG (p.Val164Aspfs) deletion Pathogenic rs281864790 GRCh37 Chromosome 17, 66520207: 66520208
2 PRKAR1A NM_212472.2(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) indel Pathogenic rs281864785 GRCh37 Chromosome 17, 66525027: 66525028
3 PRKAR1A NM_212472.2(PRKAR1A): c.891+3A> G single nucleotide variant Pathogenic rs281864799 GRCh37 Chromosome 17, 66525135: 66525135
4 PRKAR1A PRKAR1A, 1-BP DEL, 710G deletion Pathogenic
5 PRKAR1A PRKAR1A, 2-BP DEL, 845TC deletion Pathogenic
6 PRKAR1A PRKAR1A, 2-BP DEL, 576TG deletion Pathogenic
7 PRKAR1A NM_212472.2(PRKAR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs281864779 GRCh37 Chromosome 17, 66511541: 66511541
8 PRKAR1A NM_212472.2(PRKAR1A): c.708+1G> T single nucleotide variant Pathogenic rs281864798 GRCh37 Chromosome 17, 66522054: 66522054
9 PRKAR1A NM_212472.2(PRKAR1A): c.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.693_694insT (p.Arg232Terfs) insertion Pathogenic rs281864793 GRCh37 Chromosome 17, 66522038: 66522038
24 PRKAR1A NM_212472.2(PRKAR1A): c.712_713insAA (p.Ser238Lysfs) insertion 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
34 PRKAR1A NM_002734.4(PRKAR1A): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs886041228 GRCh37 Chromosome 17, 66511586: 66511586
35 PRKAR1A NM_002734.4(PRKAR1A): c.535C> T (p.Gln179Ter) single nucleotide variant Pathogenic rs141913727 GRCh38 Chromosome 17, 68524944: 68524944
36 PRKAR1A NM_002734.4(PRKAR1A): c.502+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 66520219: 66520219

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 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.13 CDKN1B GNAS MEN1 PDE11A PDE8B POMC
2
Show member pathways
13.29 F10 GNAS PDE11A PRKACB PRKAR1A PRKAR1B
3
Show member pathways
13.16 CDKN1B GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
4
Show member pathways
13.04 GNAS MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2B
5
Show member pathways
13.01 GNAS POMC PRKACB PRKAR1A PRKAR1B PRKAR2B
6
Show member pathways
12.99 CDKN1B GNAS PDE8B POMC PRKACB PRKAR1A
7
Show member pathways
12.98 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
8
Show member pathways
12.87 MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2B
9
Show member pathways
12.84 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
10
Show member pathways
12.77 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
11
Show member pathways
12.76 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
12
Show member pathways
12.65 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
13
Show member pathways
12.65 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
14
Show member pathways
12.58 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
15
Show member pathways
12.55 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
16
Show member pathways
12.52 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
17
Show member pathways
12.51 GNAS PDE11A PDE8B PRKACB
18
Show member pathways
12.5 GNAS POMC PRKACB PRKAR1A PRKAR1B PRKAR2B
19
Show member pathways
12.45 PRKACB PRKAR1A PRKAR1B PRKAR2B
20
Show member pathways
12.42 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
21
Show member pathways
12.41 PRKACB PRKAR1A PRKAR1B PRKAR2B
22
Show member pathways
12.36 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
23
Show member pathways
12.35 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
24 12.34 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
25
Show member pathways
12.31 PRKACB PRKAR1A PRKAR1B PRKAR2B
26
Show member pathways
12.3 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
27
Show member pathways
12.19 GNAS MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2B
28
Show member pathways
12.19 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
29 12.17 PRKACB PRKAR1A PRKAR1B PRKAR2B
30
Show member pathways
12.17 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
31 12.15 PRKACB PRKAR1A PRKAR1B PRKAR2B
32 12.15 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
33
Show member pathways
12.13 GNAS PRKAR1A PRKAR1B PRKAR2B
34 12.1 GNAS PDE11A PDE8B POMC
35
Show member pathways
11.92 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
36 11.74 PRKACB PRKAR1A PRKAR1B PRKAR2B
37
Show member pathways
11.68 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
38 11.6 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
39 11.53 PRKACB PRKAR1A PRKAR1B PRKAR2B
40 11.49 PRKACB PRKAR1A PRKAR1B PRKAR2B
41 11.42 PRKACB PRKAR1A PRKAR1B PRKAR2B
42 11.4 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
43 11.26 PRKACB PRKAR1A PRKAR1B PRKAR2B
44 11.17 PRKACB PRKAR1A PRKAR1B PRKAR2B
45 11.17 POMC PRKACB PRKAR1A PRKAR1B PRKAR2B
46 11.04 PRKACB PRKAR1B
47 10.94 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
48 10.38 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B

GO Terms for Carney Complex Variant

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 AIP ASMTL CDKN1B GNAS MEN1 MYH8
2 ciliary base GO:0097546 9.26 PRKACB PRKAR1A PRKAR1B PRKAR2B
3 cAMP-dependent protein kinase complex GO:0005952 8.92 PRKACB PRKAR1A PRKAR1B PRKAR2B

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.72 F10 PRKACB PRKAR1A PRKAR1B PRKAR2B
2 regulation of protein phosphorylation GO:0001932 9.61 PRKAR1A PRKAR1B PRKAR2B
3 regulation of protein kinase activity GO:0045859 9.58 PRKAR1A PRKAR1B PRKAR2B
4 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.48 CDKN1B MEN1
5 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.46 GNAS GPR101
6 activation of protein kinase A activity GO:0034199 9.46 PRKACB PRKAR1A PRKAR1B PRKAR2B
7 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.43 PRKAR1A PRKAR1B PRKAR2B
8 response to clozapine GO:0097338 9.37 PRKACB PRKAR2B
9 cellular response to glucagon stimulus GO:0071377 9.35 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
10 renal water homeostasis GO:0003091 9.02 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B

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

# Name GO ID Score Top Affiliating Genes
1 cAMP binding GO:0030552 9.43 PRKAR1A PRKAR1B PRKAR2B
2 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.37 PDE11A PDE8B
3 protein kinase A catalytic subunit binding GO:0034236 9.33 PRKAR1A PRKAR1B PRKAR2B
4 3,5-cyclic-AMP phosphodiesterase activity GO:0004115 9.32 PDE11A PDE8B
5 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.13 PRKAR1A PRKAR1B PRKAR2B
6 cAMP-dependent protein kinase regulator activity GO:0008603 8.8 PRKAR1A PRKAR1B PRKAR2B

Sources for Carney Complex Variant

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