CACOV
MCID: CRN038
MIFTS: 64

Carney Complex Variant (CACOV)

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

Aliases & Classifications for Carney Complex Variant

MalaCards integrated aliases for Carney Complex Variant:

Name: Carney Complex Variant 57 12 58 73 29 13 6 39 71
Carney Complex 12 25 20 43 58 36 29 6 44 15 71
Carney Syndrome 12 25 20 43 58
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 20 58
Carney Complex, Type 1 12 71
Name Syndrome 12 20
Lamb Syndrome 12 20
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 43
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 43
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 20
Myxoma - Spotty Pigmentation - Endocrine Overactivity 20
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 58
Carney Myxoma-Endocrine Complex 20
Carney Complex, Type 2 12
Cacov 73
Cnc1 20
Car 20

Characteristics:

Orphanet epidemiological data:

58
carney complex
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

31
carney complex variant:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance The overall penetrance of cnc in those with a prkar1a pathogenic variant is greater than 95% by age 50 years....

Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Carney Complex Variant

MedlinePlus Genetics : 43 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.Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of the four chambers of the heart and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Myxomas may also develop on the skin and in internal organs. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In Carney complex, myxomas have a tendency to recur after they are removed.Individuals with Carney complex also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce an excess of the hormone cortisol. High levels of cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.People with Carney complex may also develop tumors of other endocrine tissues, including the thyroid, testes, and ovaries. A tumor called an adenoma may form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized by large hands and feet, arthritis, and "coarse" facial features.Some people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma. This tumor occurs in specialized cells called Schwann cells, which wrap around and insulate nerves. This tumor is usually benign, but in some cases it can become cancerous (malignant).Almost all people with Carney complex have areas of unusual skin pigmentation. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus.

MalaCards based summary : Carney Complex Variant, also known as carney complex, is related to carney complex, type 1 and gigantism. An important gene associated with Carney Complex Variant is MYH8 (Myosin Heavy Chain 8), and among its related pathways/superpathways are Integrin Pathway and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include skin, pituitary and heart, and related phenotypes are pigmented micronodular adrenocortical disease and multiple lentigines

Disease Ontology : 12 A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.

GARD : 20 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.

KEGG : 36 Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. Further manifestations include primary pigmented nodular adrenocortical disease (PPNAD) [DS:H00260] leading to Cushing's syndrome [DS:H01431], pituitary adenomas [DS:H01102], thyroid nodules, testicular neoplasms, ovarian cysts, psammomatous melanotic schwannomas, ductal breast adenomas and osteochondromyxomas. Most CNC patients initially present with adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to PPNAD or heart myxomas. Skin lesions are the most common CNC manifestation: lentigines are present in 70 to 75% of patients with CNC. Blue nevi are also typical of CNC. CNC is caused by inactivating mutations or large deletions of the PRKAR1A gene coding for the regulatory subunit type I alpha of protein kinase A (PKA). It may be inherited as an autosomal dominant trait but in a significant number of patients the disease is sporadic, presumably due to de novo mutations.

UniProtKB/Swiss-Prot : 73 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.

More information 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 224)
# Related Disease Score Top Affiliating Genes
1 carney complex, type 1 33.2 PRKAR1A FAM20A
2 gigantism 32.2 PRL GPR101 AIP
3 pituitary adenoma 1, multiple types 32.2 PRL MEN1 AIP
4 pigmented nodular adrenocortical disease, primary, 1 32.2 PRKAR1A FAM20A
5 familial isolated pituitary adenoma 32.1 MEN1 CNC2 CDKN1B AIP
6 adrenal carcinoma 31.9 PRKAR1A POMC MIR483 MEN1 GNAS ARMC5
7 pituitary adenoma 31.9 PRL PRKAR1A POMC MEN1 GPR101 GNAS
8 acth-independent macronodular adrenal hyperplasia 31.7 PRKAR2B PRKAR1A POMC PDE8B PDE11A MIR483
9 multiple endocrine neoplasia 31.2 PRKAR1A POMC MEN1 GNAS CNC2 CDKN1B
10 mccune-albright syndrome 31.0 PRL PRKAR1A PDE8B PDE11A MEN1 GNAS
11 pituitary tumors 31.0 PRL POMC MEN1 GNAS CNC2 AIP
12 melanocytic nevus syndrome, congenital 30.8 PRKAR1A CNC2
13 adrenal cortical adenoma 30.8 PRKAR1A POMC MIR483 MEN1
14 adrenal adenoma 30.7 PRKAR1A POMC MIR483 MEN1 GNAS
15 hyperparathyroidism 30.7 PRKAR1A MEN1 CDKN1B
16 follicular adenoma 30.6 MEN1 GNAS CDKN1B
17 conn's syndrome 30.6 PRL PRKAR1A POMC PDE11A MEN1 GNAS
18 hyperprolactinemia 30.5 PRL POMC GNAS
19 adrenal cortical carcinoma 30.5 PRKAR1A POMC MIR483 GNAS
20 myxoma, intracardiac 30.5 PRKAR1A FAM20A
21 hyperthyroidism 30.4 PRL POMC GNAS
22 growth hormone secreting pituitary adenoma 30.4 PRL PRKAR1A POMC MEN1 GPR101 GNAS
23 thyroid carcinoma, familial medullary 30.4 PRKAR1A POMC MEN1
24 paraganglioma and gastric stromal sarcoma 30.4 PRKAR1A PDE11A MEN1
25 acrodysostosis 30.4 PRKAR2B PRKAR1A GNAS FAM20A
26 pituitary-dependent cushing's disease 30.3 PRL POMC
27 breast ductal adenoma 30.3 PRL PRKAR1A PDE11A ARMC5
28 pituitary apoplexy 30.3 PRL POMC MEN1 AIP
29 melanotic neurilemmoma 30.3 PRKAR2B PRKAR2A PRKAR1A POMC PDE8B PDE11A
30 multiple endocrine neoplasia, type i 30.3 PRL PRKAR1A POMC MIR483 MEN1 GPR101
31 primary hyperparathyroidism 30.2 PRL PRKAR1A POMC MEN1 GNAS CDKN1B
32 multiple endocrine neoplasia, type iv 30.2 PRKAR1A MEN1 GPR101 CDKN1B AIP
33 acth-independent cushing syndrome 30.2 PRKAR1A PDE8B PDE11A GNAS ARMC5
34 pituitary adenoma, prolactin-secreting 30.1 PRL PRKAR1A POMC MEN1 GNAS AIP
35 beckwith-wiedemann syndrome 30.1 PRKAR1A PDE11A MIR483 MEN1 GNAS ARMC5
36 acromegaly 30.1 PRL PRKAR1A POMC MEN1 GPR101 GNAS
37 adenoma 30.0 PRL PRKAR1A POMC MEN1 GPR101 GNAS
38 peutz-jeghers syndrome 29.8 PRKAR1A GNAS CNC2
39 primary pigmented nodular adrenocortical disease 29.6 PRKAR2B PRKAR1B PRKAR1A PRKACB POMC PDE8B
40 carney complex, type 2 11.5
41 lentiginosis, inherited patterned 11.0
42 thyroid cancer, nonmedullary, 2 11.0
43 thyroid cancer, nonmedullary, 1 11.0
44 thyroid cancer, nonmedullary, 3 11.0
45 paragangliomas 1 10.9
46 null pituitary adenoma 10.5 MEN1 AIP
47 silent pituitary adenoma 10.5 MEN1 AIP
48 acrodysostosis 1 with or without hormone resistance 10.5 PRKAR1A FAM20A
49 acth-independent macronodular adrenal hyperplasia 1 10.5 POMC GNAS
50 fibrous dysplasia/mccune-albright syndrome 10.4 PRL GNAS

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



Diseases related to Carney Complex Variant

Symptoms & Phenotypes for Carney Complex Variant

Human phenotypes related to Carney Complex Variant:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pigmented micronodular adrenocortical disease 58 31 obligate (100%) Obligate (100%),Obligate (100%) HP:0001580
2 multiple lentigines 58 31 hallmark (90%) Very frequent (99-80%) HP:0001003
3 enlarged polycystic ovaries 58 31 frequent (33%) Frequent (79-30%) HP:0008675
4 growth hormone excess 58 31 frequent (33%) Frequent (79-30%) HP:0000845
5 pituitary growth hormone cell adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0011760
6 blue nevus 58 31 frequent (33%) Frequent (79-30%) HP:0100814
7 hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0001007
8 thyroid adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0000854
9 profuse pigmented skin lesions 58 31 frequent (33%) Frequent (79-30%) HP:0005587
10 thyroid follicular hyperplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008225
11 vestibular schwannoma 58 31 frequent (33%) Frequent (79-30%) HP:0009588
12 peripheral schwannoma 58 31 frequent (33%) Frequent (79-30%) HP:0009593
13 abnormality of circulating adrenocorticotropin level 58 31 frequent (33%) Frequent (79-30%) HP:0011043
14 cardiac myxoma 58 31 frequent (33%) Frequent (79-30%) HP:0011672
15 increased urinary cortisol level 58 31 frequent (33%) Frequent (79-30%) HP:0012030
16 abnormal prolactin level 58 31 frequent (33%) Frequent (79-30%) HP:0040086
17 increased circulating cortisol level 58 31 frequent (33%) Occasional (29-5%) HP:0003118
18 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
19 red hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002297
20 pituitary prolactin cell adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006767
21 thyroid carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002890
22 uterine neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010784
23 fibroadenoma of the breast 58 31 occasional (7.5%) Occasional (29-5%) HP:0010619
24 recurrent paroxysmal headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002331
25 hypertension associated with pheochromocytoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002640
26 adrenal pheochromocytoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006748
27 pigmentation of the sclera 58 31 occasional (7.5%) Occasional (29-5%) HP:0007832
28 colon cancer 58 31 very rare (1%) Very rare (<4-1%) HP:0003003
29 stomach cancer 58 31 very rare (1%) Very rare (<4-1%) HP:0012126
30 adrenocortical carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0006744
31 neoplasm of the pancreas 58 31 very rare (1%) Very rare (<4-1%) HP:0002894
32 cafe-au-lait spot 58 31 very rare (1%) Very rare (<4-1%) HP:0000957
33 bronchogenic cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0100730
34 parathyroid adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002897
35 hepatocellular adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012028
36 histiocytoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012315
37 osteochondroma 58 31 very rare (1%) Very rare (<4-1%) HP:0030431
38 sertoli cell neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0100619
39 nevus 58 Frequent (79-30%)
40 polycystic ovaries 58 Frequent (79-30%)
41 hypermelanotic macule 58 Frequent (79-30%)
42 trismus 31 HP:0000211
43 hypercortisolism 58 Frequent (79-30%)
44 ovarian cyst 58 Occasional (29-5%)
45 pituitary adenoma 58 Frequent (79-30%)
46 schwannoma 58 Frequent (79-30%)
47 distal arthrogryposis 31 HP:0005684

Clinical features from OMIM®:

608837 (Updated 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.7 CDKN1B PRKACB PRKAR1A PRKAR1B PRKAR2A
2 Decreased viability GR00221-A-2 9.7 PRKAR1A PRKAR1B
3 Decreased viability GR00221-A-3 9.7 PRKAR1A PRKAR1B
4 Decreased viability GR00221-A-4 9.7 PRKAR1A PRKAR2A
5 Decreased viability after gemcitabine stimulation GR00107-A-2 8.8 PRKACB PRKAR1A PRKAR2B

MGI Mouse Phenotypes related to Carney Complex Variant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.81 AIP ARMC5 CDKN1B GNAS MEN1 PDE11A
2 liver/biliary system MP:0005370 9.56 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
3 neoplasm MP:0002006 9.17 AIP CDKN1B GNAS MEN1 POMC PRKAR1A

Drugs & Therapeutics for Carney Complex Variant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Study of Linsitinib (OSI-906) in Pediatric and Adult Wild Type Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
2 Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions Completed NCT00001452
3 Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC). Completed NCT00668291
4 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 29
2 Carney Complex Variant 29 MYH8

Anatomical Context for Carney Complex Variant

MalaCards organs/tissues related to Carney Complex Variant:

40
Skin, Pituitary, Heart, Thyroid, Testes, Breast, Pancreas

Publications for Carney Complex Variant

Articles related to Carney Complex Variant:

(show top 50) (show all 702)
# Title Authors PMID Year
1
Mutation of perinatal myosin heavy chain associated with a Carney complex variant. 25 61 6 57
15282353 2004
2
Mutation of perinatal myosin heavy chain. 6 25 57
15590965 2004
3
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. 6 57 61
17041932 2006
4
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 61 6 25
16464939 2006
5
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. 61 6 25
12424709 2002
6
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. 25 6 61
10973256 2000
7
The myxoma syndrome: an unusual entity. A family study. 57 6
1600999 1992
8
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. 61 6
18241045 2008
9
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. 61 6
18049072 2008
10
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. 6 61
15371594 2004
11
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. 6 61
12213893 2002
12
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. 6 61
11115848 2000
13
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. 61 6
10974026 2000
14
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion. 61 25
28973408 2017
15
PRKACB and Carney complex. 25 61
24571725 2014
16
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 61 25
24170103 2014
17
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. 6
20949528 2010
18
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. 25 61
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. 25 61
19293268 2009
20
Heterogeneity of skin manifestations in patients with Carney complex. 25 61
18804312 2008
21
Large deletions of the PRKAR1A gene in Carney complex. 61 25
18223213 2008
22
Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas. 61 25
16001434 2005
23
GH-secreting pituitary adenomas infrequently contain inactivating mutations of PRKAR1A and LOH of 17q23-24. 61 25
12641630 2003
24
Surgical correction of trismus in a child with Hecht syndrome. 6
12800911 2003
25
Isolated familial somatotropinomas: clinical and genetic considerations. 61 25
12813918 2003
26
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex. 61 25
12471216 2002
27
Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer. 25 61
12203783 2002
28
Genetic alterations of Carney complex are not present in sporadic cardiac myxomas. 25 61
11744997 2002
29
Genetic background of adrenocortical tumor development. 61 25
11572037 2001
30
Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. 25 61
11095480 2000
31
Neurosurgical implications of Carney complex. 25 61
10701527 2000
32
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. 25 61
10523219 1999
33
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. 25 61
8609225 1996
34
Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. 6
4443857 1974
35
The trismus-pseudocampylodactyly syndrome. 6
4837286 1974
36
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. 25
24571724 2014
37
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. 25
17609395 2007
38
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. 25
16767104 2006
39
cAMP-dependent protein kinase regulatory subunit type IIbeta: active site mutations define an isoform-specific network for allosteric signaling by cAMP. 25
14625280 2004
40
Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity. 25
14500362 2003
41
Isolated familial somatotropinomas: does the disease map to 11q13 or to 2p16? 25
11134164 2000
42
MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. 61
33444222 2021
43
The clinical aspects of pituitary tumour genetics. 61
33543431 2021
44
Newborn infant with congenital lentigines as a manifestation of Carney Complex. 61
33414123 2021
45
Predicting the risk of cardiac myxoma in Carney complex. 61
32893266 2021
46
Visualization and bibliometric analysis of cAMP signaling system research trends and hotspots in cancer. 61
33391432 2021
47
A Rare Case of Vulvar Superficial Angiomyxoma in a Pediatric Patient. 61
32739529 2020
48
Carney complex featuring giant intracardiac biatrial myxoma in an adolescent girl. 61
33367534 2020
49
Carney Complex syndrome. 61
32950201 2020
50
Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature. 61
33027596 2020

Variations for Carney Complex Variant

ClinVar genetic disease variations for Carney Complex Variant:

6 (show top 50) (show all 324)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKAR1A NM_212472.2(PRKAR1A):c.709-7_709-2del Microsatellite Pathogenic 12675 rs281864801 17:66523965-66523970 17:68527824-68527829
2 PRKAR1A NM_212472.2(PRKAR1A):c.101_105del (p.Ser34fs) Deletion Pathogenic 41380 rs281864788 17:66511638-66511642 17:68515497-68515501
3 PRKAR1A NM_212472.2(PRKAR1A):c.109C>T (p.Gln37Ter) SNV Pathogenic 41381 rs281864781 17:66511649-66511649 17:68515508-68515508
4 PRKAR1A NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter) SNV Pathogenic 41382 rs281864782 17:66511664-66511664 17:68515523-68515523
5 PRKAR1A NM_212472.2(PRKAR1A):c.139del (p.Met47fs) Deletion Pathogenic 41383 rs281864789 17:66511679-66511679 17:68515538-68515538
6 PRKAR1A NM_212472.2(PRKAR1A):c.178-2A>G SNV Pathogenic 41384 rs281864796 17:66518895-66518895 17:68522754-68522754
7 PRKAR1A NM_212472.2(PRKAR1A):c.178_348del (p.Glu60_Lys116del) Deletion Pathogenic 41385
8 PRKAR1A NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter) SNV Pathogenic 41386 rs281864783 17:66519005-66519005 17:68522864-68522864
9 PRKAR1A NM_212472.2(PRKAR1A):c.348+1G>C SNV Pathogenic 41387 rs281864797 17:66519068-66519068 17:68522927-68522927
10 PRKAR1A NM_212472.2(PRKAR1A):c.550-8_550-1del Deletion Pathogenic 41388 rs281864800 17:66521886-66521893 17:68525745-68525752
11 PRKAR1A NM_212472.2(PRKAR1A):c.566_567delinsCAC (p.Glu189fs) Indel Pathogenic 41389 rs281864792 17:66521911-66521912 17:68525770-68525771
12 PRKAR1A NM_212472.2(PRKAR1A):c.638C>A (p.Ala213Asp) SNV Pathogenic 41390 rs281864786 17:66521983-66521983 17:68525842-68525842
13 PRKAR1A NM_212472.2(PRKAR1A):c.682C>T (p.Arg228Ter) SNV Pathogenic 41391 rs281864784 17:66522027-66522027 17:68525886-68525886
14 PRKAR1A NM_212472.2(PRKAR1A):c.693dup (p.Arg232Ter) Duplication Pathogenic 41392 rs281864793 17:66522037-66522038 17:68525896-68525897
15 PRKAR1A NM_212472.2(PRKAR1A):c.711_712dup (p.Ser238fs) Duplication Pathogenic 41393 rs281864794 17:66523982-66523983 17:68527841-68527842
16 PRKAR1A NM_212472.2(PRKAR1A):c.82C>T (p.Gln28Ter) SNV Pathogenic 41394 rs281864780 17:66511622-66511622 17:68515481-68515481
17 PRKAR1A NM_212472.2(PRKAR1A):c.846_847insA (p.Val283fs) Insertion Pathogenic 41395 rs281864795 17:66525087-66525088 17:68528946-68528947
18 PRKAR1A NM_212472.2(PRKAR1A):c.85_95del (p.Ala29fs) Deletion Pathogenic 41396 rs281864787 17:66511621-66511631 17:68515480-68515490
19 PRKAR1A NM_212472.2(PRKAR1A):c.489_490TG[1] (p.Val164fs) Microsatellite Pathogenic 12662 rs281864790 17:66520205-66520206 17:68524064-68524065
20 PRKAR1A NM_212472.2(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) Indel Pathogenic 12663 rs281864785 17:66525027-66525028 17:68528886-68528887
21 PRKAR1A NM_212472.2(PRKAR1A):c.891+3A>G SNV Pathogenic 12664 rs281864799 17:66525135-66525135 17:68528994-68528994
22 PRKAR1A PRKAR1A, 1-BP DEL, 710G Deletion Pathogenic 12666
23 PRKAR1A PRKAR1A, 2-BP DEL, 845TC Deletion Pathogenic 12667
24 PRKAR1A PRKAR1A, 2-BP DEL, 576TG Deletion Pathogenic 12668
25 PRKAR1A NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val) SNV Pathogenic 12669 rs281864779 17:66511541-66511541 17:68515400-68515400
26 PRKAR1A NM_212472.2(PRKAR1A):c.708+1G>T SNV Pathogenic 12672 rs281864798 17:66522054-66522054 17:68525913-68525913
27 MYH8 NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) SNV Pathogenic 14136 rs121434590 17:10310241-10310241 17:10406924-10406924
28 PRKAR1A NM_212472.2(PRKAR1A):c.623del (p.Gly208fs) Deletion Pathogenic 164995 rs727503379 17:66521967-66521967 17:68525826-68525826
29 PRKAR1A NM_212472.2(PRKAR1A):c.177+3A>G SNV Pathogenic 189811 rs797044568 17:66511720-66511720 17:68515579-68515579
30 FAM20A NC_000017.11:g.(?_68512379)_(68533431_?)del Deletion Pathogenic 189812 17:68512379-68533431
31 PRKAR1A NC_000017.11:g.(?_68512379)_(68512548_?)del Deletion Pathogenic 189813 17:68512379-68512548
32 PRKAR1A NC_000017.11:g.(?_68515394)_(68515576_?)del Deletion Pathogenic 189814 17:68515394-68515576
33 FAM20A NC_000017.11:g.(?_68528870)_(68530449_?)del Deletion Pathogenic 189815 17:68528870-68530449
34 PRKAR1A NM_212472.2(PRKAR1A):c.502+1G>A SNV Pathogenic 469066 rs1555813578 17:66520219-66520219 17:68524078-68524078
35 PRKAR1A NM_212472.2(PRKAR1A):c.46C>T (p.Arg16Ter) SNV Pathogenic 279877 rs886041228 17:66511586-66511586 17:68515445-68515445
36 PRKAR1A NM_212472.2(PRKAR1A):c.177+1G>A SNV Pathogenic 536896 rs1555811753 17:66511718-66511718 17:68515577-68515577
37 PRKAR1A NM_212472.2(PRKAR1A):c.764_768del (p.Ile255fs) Deletion Pathogenic 536897 rs1555814477 17:66524034-66524038 17:68527893-68527897
38 PRKAR1A NM_212472.2(PRKAR1A):c.660_661TG[1] (p.Val221fs) Microsatellite Pathogenic 570680 rs1568698487 17:66522005-66522006 17:68525864-68525865
39 PRKAR1A NM_212472.2(PRKAR1A):c.812dup (p.Leu271fs) Duplication Pathogenic 574526 rs1568701362 17:66525051-66525052 17:68528910-68528911
40 PRKAR1A NM_212472.2(PRKAR1A):c.671G>A (p.Trp224Ter) SNV Pathogenic 575134 rs1568698504 17:66522016-66522016 17:68525875-68525875
41 FAM20A NC_000017.11:g.(?_68512379)_(68530459_?)del Deletion Pathogenic 583714 17:66508520-66526600 17:68512379-68530459
42 PRKAR1A NC_000017.11:g.(?_68515384)_(68529001_?)del Deletion Pathogenic 584116 17:66511525-66525142 17:68515384-68529001
43 FAM20A NC_000017.11:g.(?_68515394)_(68530455_?)del Deletion Pathogenic 584268 17:66511535-66526596 17:68515394-68530455
44 PRKAR1A NM_212472.2(PRKAR1A):c.289C>T (p.Arg97Ter) SNV Pathogenic 523771 rs1555813217 17:66519008-66519008 17:68522867-68522867
45 PRKAR1A NM_002734.5(PRKAR1A):c.431_440del (p.Asn144fs) Deletion Pathogenic 836915 17:66519948-66519957 17:68523807-68523816
46 PRKAR1A NC_000017.11:g.(?_68512379)_(68515586_?)del Deletion Pathogenic 830487 17:66508520-66511727
47 PRKAR1A NC_000017.11:g.(?_68522746)_(68530459_?)del Deletion Pathogenic 831062 17:66518887-66526600
48 PRKAR1A NC_000017.11:g.(?_68512379)_(68524087_?)del Deletion Pathogenic 832947 17:66508520-66520228
49 PRKAR1A NC_000017.11:g.68528870_68528871del Microsatellite Pathogenic 933955 17:66525009-66525010 17:68528868-68528869
50 PRKAR1A NM_212472.2(PRKAR1A):c.535C>T (p.Gln179Ter) SNV Pathogenic 379923 rs141913727 17:66521085-66521085 17:68524944-68524944

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

73
# Symbol AA change Variation ID SNP ID
1 MYH8 p.Arg674Gln VAR_019810 rs121434590

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 top 50) (show all 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB MYH8
2
Show member pathways
13.32 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB PDE11A
3
Show member pathways
13.26 PRL PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
4
Show member pathways
13.13 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
5
Show member pathways
13.1 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB MYH8
6
Show member pathways
13.08 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
7
Show member pathways
13.06 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
8
Show member pathways
12.96 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB MYH8
9
Show member pathways
12.92 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
10
Show member pathways
12.89 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
11
Show member pathways
12.88 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
12
Show member pathways
12.85 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
13
Show member pathways
12.83 PRKACB POMC PDE8B PDE11A MEN1 GNAS
14
Show member pathways
12.73 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB CDKN1B
15
Show member pathways
12.72 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
16
Show member pathways
12.71 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
17
Show member pathways
12.71 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
18
Show member pathways
12.66 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
19
Show member pathways
12.63 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
20
Show member pathways
12.62 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
21
Show member pathways
12.58 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
22
Show member pathways
12.58 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
23
Show member pathways
12.52 PRKACB PDE8B PDE11A GNAS
24
Show member pathways
12.5 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
25
Show member pathways
12.49 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
26
Show member pathways
12.44 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
27
Show member pathways
12.43 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
28 12.42 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
29
Show member pathways
12.38 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
30
Show member pathways
12.38 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
31
Show member pathways
12.27 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
32 12.24 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
33 12.22 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
34
Show member pathways
12.22 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
35 12.2 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
36
Show member pathways
12.19 PRKAR2B PRKAR2A PRKAR1B PRKAR1A GNAS
37 12.15 POMC PDE8B PDE11A GNAS
38
Show member pathways
12.05 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
39 11.81 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
40
Show member pathways
11.8 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
41 11.79 PRL PRKACB POMC
42 11.79 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
43 11.74 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
44 11.61 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
45 11.54 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
46 11.49 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
47 11.25 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
48 11.16 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
49 11.02 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
50 11.01 PRL POMC

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 cytoplasm GO:0005737 10.17 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
2 cytosol GO:0005829 9.97 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB PDE8B
3 ciliary base GO:0097546 9.35 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
4 nucleotide-activated protein kinase complex GO:0031588 9.26 PRKAR2A PRKAR1A
5 cAMP-dependent protein kinase complex GO:0005952 9.02 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.85 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
2 regulation of protein phosphorylation GO:0001932 9.73 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
3 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.67 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
4 activation of protein kinase A activity GO:0034199 9.65 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
5 regulation of cAMP-mediated signaling GO:0043949 9.62 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
6 regulation of cAMP-dependent protein kinase activity GO:2000479 9.58 PRKAR2B PRKAR2A PRKAR1A
7 regulation of protein kinase A signaling GO:0010738 9.55 PRKAR2B PRKAR2A PRKAR1B PRKAR1A AIP
8 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.49 GPR101 GNAS
9 response to clozapine GO:0097338 9.48 PRKAR2B PRKACB
10 renal water homeostasis GO:0003091 9.43 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
11 cellular response to glucagon stimulus GO:0071377 9.1 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.67 PRKAR2B PRKAR2A PRKAR1A PRKACB
2 cAMP binding GO:0030552 9.56 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
3 protein kinase A catalytic subunit binding GO:0034236 9.46 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
4 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 9.32 PDE8B PDE11A
5 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.26 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
6 cAMP-dependent protein kinase regulator activity GO:0008603 8.92 PRKAR2B PRKAR2A PRKAR1B PRKAR1A

Sources for Carney Complex Variant

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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