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CACOV
MCID: CRN038
MIFTS: 61

Carney Complex Variant (CACOV)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Carney Complex Variant

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MalaCards integrated aliases for Carney Complex Variant:

Name: Carney Complex Variant 56 12 58 73 29 13 6 39 71
Carney Complex 12 24 52 25 58 36 29 6 43 15 71
Carney Syndrome 12 24 52 25 58
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 52 58
Carney Complex, Type 1 12 71
Name Syndrome 12 52
Lamb Syndrome 12 52
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 25
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 25
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 52
Myxoma - Spotty Pigmentation - Endocrine Overactivity 52
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 58
Carney Myxoma-Endocrine Complex 52
Carney Complex, Type 2 12
Cacov 73
Cnc1 52
Car 52

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:

24
Penetrance The overall penetrance of cnc in those with a prkar1a pathogenic variant is greater than 95% by age 50 years....

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Carney Complex Variant

About this section
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. 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 pituitary adenoma 1, multiple types and adrenal carcinoma. 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+. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include skin, pituitary and thyroid, 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.

NIH Rare Diseases : 52 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
Sources

Related Diseases for Carney Complex Variant

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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 222)
# Related Disease Score Top Affiliating Genes
1 pituitary adenoma 1, multiple types 33.1 PRL MEN1 AIP
2 adrenal carcinoma 32.7 PRKAR1A POMC PDE11A MIR483 MEN1 ARMC5
3 familial isolated pituitary adenoma 32.5 MEN1 CNC2 CDKN1B AIP
4 acth-independent macronodular adrenal hyperplasia 32.0 PRKAR2B PRKAR1A POMC PDE8B PDE11A MIR483
5 multiple endocrine neoplasia 31.6 PRKAR1A MEN1 CNC2 CDKN1B
6 lentigines 31.4 PRKAR1A POMC MEN1 CNC2
7 gigantism 31.2 PRL GPR101 AIP
8 pituitary tumors 31.0 PRL POMC MEN1 GNAS CNC2 AIP
9 acromegaly 31.0 PRL PRKAR1A POMC MEN1 GPR101 GNAS
10 adrenal cortical adenoma 30.9 PRKAR1A POMC MIR483 MEN1
11 mccune-albright syndrome 30.9 PRL PRKAR1A PDE8B PDE11A MEN1 GPR101
12 hyperparathyroidism 30.8 PRKAR1A MEN1 CDKN1B
13 follicular adenoma 30.8 MEN1 GNAS CDKN1B
14 adrenal adenoma 30.8 PRKAR1A POMC MIR483 MEN1 GNAS
15 ovarian cyst 30.7 PRL GNAS CNC2
16 thyroid gland cancer 30.7 PRKAR1A POMC MEN1 GNAS CDKN1B
17 melanocytic nevus syndrome, congenital 30.7 PRKAR1A CNC2
18 hyperprolactinemia 30.7 PRL POMC GNAS
19 acrodysostosis 30.6 PRKAR2B PRKAR1A GNAS
20 dowling-degos disease 1 30.6 POMC GNAS
21 paraganglioma and gastric stromal sarcoma 30.6 PRKAR1A PDE11A MEN1
22 thyroid carcinoma, familial medullary 30.6 PRKAR1A POMC MEN1
23 adrenocortical carcinoma, hereditary 30.5 PRKAR1A MIR483 GNAS
24 pituitary adenoma 30.5 PRL PRKAR1A POMC MEN1 GPR101 GNAS
25 peutz-jeghers syndrome 30.5 PRKAR1A GNAS CNC2
26 primary hyperparathyroidism 30.5 PRL PRKAR1A POMC MEN1 CDKN1B
27 pituitary-dependent cushing's disease 30.4 PRL POMC
28 pituitary apoplexy 30.4 PRL POMC MEN1 AIP
29 adrenal cortical carcinoma 30.4 PRKAR1A POMC PDE11A MIR483 MEN1 ARMC5
30 acth-secreting pituitary adenoma 30.4 PRL PRKAR1A POMC MEN1 GPR101 AIP
31 hyperthyroidism 30.3 PRL POMC GNAS
32 breast ductal adenoma 30.3 PRL PRKAR1A PDE8B PDE11A ARMC5
33 acth-independent cushing syndrome 30.3 PRKAR1A PDE8B PDE11A GNAS ARMC5
34 growth hormone secreting pituitary adenoma 30.3 PRL PRKAR1A POMC MEN1 GPR101 GNAS
35 multiple endocrine neoplasia, type iv 30.2 PRKAR1A MEN1 GPR101 GNAS CDKN1B AIP
36 pituitary adenoma, prolactin-secreting 30.2 PRL PRKAR1A POMC MEN1 GNAS AIP
37 beckwith-wiedemann syndrome 30.2 PRKAR1A PDE11A MIR483 MEN1 GNAS ARMC5
38 adenoma 30.0 PRL PRKAR1A POMC MEN1 GPR101 GNAS
39 multiple endocrine neoplasia, type i 29.9 PRL PRKAR1A POMC MIR483 MEN1 GPR101
40 conn's syndrome 29.8 PRL PRKAR1A POMC PDE11A MEN1 GNAS
41 primary pigmented nodular adrenocortical disease 29.1 PRKAR2B PRKAR1B PRKAR1A PRKACB POMC PDE8B
42 carney complex, type 1 12.7
43 carney complex, type 2 11.8
44 neurilemmoma 11.6
45 pigmented nodular adrenocortical disease, primary, 1 11.3
46 lentiginosis, inherited patterned 11.2
47 thyroid cancer, nonmedullary, 2 11.2
48 thyroid cancer, nonmedullary, 1 11.2
49 thyroid cancer, nonmedullary, 3 11.2
50 paragangliomas 1 11.1

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



Diseases related to Carney Complex Variant
Sources

Symptoms & Phenotypes for Carney Complex Variant

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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 pituitary prolactin cell adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006767
20 thyroid carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002890
21 uterine neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010784
22 fibroadenoma of the breast 58 31 occasional (7.5%) Occasional (29-5%) HP:0010619
23 red hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002297
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 hypermelanotic macule 58 Frequent (79-30%)
40 nevus 58 Frequent (79-30%)
41 polycystic ovaries 58 Frequent (79-30%)
42 trismus 31 HP:0000211
43 hypercortisolism 58 Frequent (79-30%)
44 ovarian cyst 58 Occasional (29-5%)
45 distal arthrogryposis 31 HP:0005684
46 pituitary adenoma 58 Frequent (79-30%)
47 schwannoma 58 Frequent (79-30%)

Clinical features from OMIM:

608837

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.56 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
2 neoplasm MP:0002006 9.17 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
Sources

Drugs & Therapeutics for Carney Complex Variant

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

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 Investigation of Prevalence and Clinical Effects of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations With DNA Sequence Analysis in Acromegaly Patients in Turkey Unknown status NCT01902420
3 Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC). Completed NCT00668291
4 Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions Completed NCT00001452
5 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
6 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188
7 Impact of a Physical Rehabilitation Program on the Quality of Life of Patients With Acromegaly: a Non-randomized Clinical Trial. Recruiting NCT03710499
8 Epidemiology of Pituitary Tumours: Prevalence of Associated Endocrine and Non-endocrine Tumours and Potential Implications in the Management and Follow-up of Patients" Not yet recruiting NCT03973450

Search NIH Clinical Center for Carney Complex Variant

Cochrane evidence based reviews: carney complex

Sources

Genetic Tests for Carney Complex Variant

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Genetic tests related to Carney Complex Variant:

# Genetic test Affiliating Genes
1 Carney Complex 29
2 Carney Complex Variant 29 MYH8
Sources

Anatomical Context for Carney Complex Variant

About this section

MalaCards organs/tissues related to Carney Complex Variant:

40
Skin, Pituitary, Thyroid, Heart, Breast, Bone, Ovary
Sources

Publications for Carney Complex Variant

About this section

Articles related to Carney Complex Variant:

(show top 50) (show all 677)
# Title Authors PMID Year
1
Mutation of perinatal myosin heavy chain associated with a Carney complex variant. 6 24 56 61
15282353 2004
2
Mutation of perinatal myosin heavy chain. 24 56 6
15590965 2004
3
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. 6 56 61
17041932 2006
4
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 61 6 24
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. 24 6 61
12424709 2002
6
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. 61 6 24
10973256 2000
7
The myxoma syndrome: an unusual entity. A family study. 56 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
Carney Complex 61 6
20301463 2003
12
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. 61 6
12213893 2002
13
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. 61 6
11115848 2000
14
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. 6 61
10974026 2000
15
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion. 24 61
28973408 2017
16
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
17
PRKACB and Carney complex. 61 24
24571725 2014
18
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 61 24
24170103 2014
19
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. 6
20949528 2010
20
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. 24 61
20358582 2010
21
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. 24 61
19293268 2009
22
Heterogeneity of skin manifestations in patients with Carney complex. 61 24
18804312 2008
23
Large deletions of the PRKAR1A gene in Carney complex. 24 61
18223213 2008
24
Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas. 61 24
16001434 2005
25
GH-secreting pituitary adenomas infrequently contain inactivating mutations of PRKAR1A and LOH of 17q23-24. 61 24
12641630 2003
26
Surgical correction of trismus in a child with Hecht syndrome. 6
12800911 2003
27
Isolated familial somatotropinomas: clinical and genetic considerations. 24 61
12813918 2003
28
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex. 61 24
12471216 2002
29
Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer. 61 24
12203783 2002
30
Genetic alterations of Carney complex are not present in sporadic cardiac myxomas. 61 24
11744997 2002
31
Genetic background of adrenocortical tumor development. 61 24
11572037 2001
32
Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. 61 24
11095480 2000
33
Neurosurgical implications of Carney complex. 24 61
10701527 2000
34
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. 61 24
10523219 1999
35
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. 61 24
8609225 1996
36
Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. 6
4443857 1974
37
The trismus-pseudocampylodactyly syndrome. 6
4837286 1974
38
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. 24
24571724 2014
39
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. 24
17609395 2007
40
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. 24
16767104 2006
41
cAMP-dependent protein kinase regulatory subunit type IIbeta: active site mutations define an isoform-specific network for allosteric signaling by cAMP. 24
14625280 2004
42
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. 24
14500362 2003
43
Isolated familial somatotropinomas: does the disease map to 11q13 or to 2p16? 24
11134164 2000
44
History of the multiple endocrine neoplasia workshops and overview of MEN2019. 61
32508314 2020
45
Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas. 61
32302974 2020
46
Update on primary micronodular bilateral adrenocortical diseases. 61
32209819 2020
47
Adrenocortical tumorigenesis: Lessons from genetics. 61
32507359 2020
48
Clinical and Molecular Update on Genetic Causes of Pituitary Adenomas. 61
32299111 2020
49
Pigmented spots on the lacrimal caruncle: a key to the diagnosis of Carney complex in a child with multiple lentigines. 61
32301134 2020
50
[Hereditary predispositions to follicular thyroid tumors]. 61
32192806 2020
Sources

Variations for Carney Complex Variant

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ClinVar genetic disease variations for Carney Complex Variant:

6 (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKAR1A NM_212472.2(PRKAR1A):c.709-7_709-2delshort repeat Pathogenic 12675 rs281864801 17:66523965-66523970 17:68527824-68527829
2 MYH8 NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)SNV Pathogenic 14136 rs121434590 17:10310241-10310241 17:10406924-10406924
3 PRKAR1A NM_212472.2(PRKAR1A):c.623del (p.Gly208fs)deletion Pathogenic 164995 rs727503379 17:66521967-66521967 17:68525826-68525826
4 PRKAR1A NM_212472.2(PRKAR1A):c.535C>T (p.Gln179Ter)SNV Pathogenic 379923 rs141913727 17:66521085-66521085 17:68524944-68524944
5 PRKAR1A NM_212472.2(PRKAR1A):c.-84C>TSNV Uncertain significance 324777 rs886053304 17:66508643-66508643 17:68512502-68512502
6 MYH8 NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter)SNV Uncertain significance 225416 rs150008607 17:10302192-10302192 17:10398875-10398875
7 MYH8 NM_002472.3(MYH8):c.977T>C (p.Ile326Thr)SNV Uncertain significance 634583 rs34124921 17:10317540-10317540 17:10414223-10414223
8 PRKAR1A NM_212472.2(PRKAR1A):c.220C>T (p.Arg74Cys)SNV Uncertain significance 12674 rs137853303 17:66518939-66518939 17:68522798-68522798
9 PRKAR1A NM_212472.2(PRKAR1A):c.*587deldeletion Uncertain significance 324791 rs398041821 17:66527167-66527167 17:68531026-68531026
10 PRKAR1A NM_212472.2(PRKAR1A):c.*1118dupduplication Uncertain significance 324804 rs886053312 17:66527701-66527702 17:68531560-68531561
11 PRKAR1A NM_212472.2(PRKAR1A):c.*1835deldeletion Likely benign 324812 rs138320066 17:66528423-66528423 17:68532282-68532282
12 PRKAR1A NM_212472.2(PRKAR1A):c.*847A>GSNV Likely benign 324799 rs144299673 17:66527437-66527437 17:68531296-68531296
13 PRKAR1A NM_212472.2(PRKAR1A):c.*759C>TSNV Likely benign 324796 rs62087489 17:66527349-66527349 17:68531208-68531208
14 PRKAR1A NM_212472.2(PRKAR1A):c.*138C>ASNV Likely benign 324784 rs28730842 17:66526728-66526728 17:68530587-68530587
15 PRKAR1A NM_212472.2(PRKAR1A):c.*151A>GSNV Likely benign 324785 rs11540571 17:66526741-66526741 17:68530600-68530600
16 PRKAR1A NM_212472.2(PRKAR1A):c.*172_*175deldeletion Likely benign 324787 rs201146882 17:66526759-66526762 17:68530618-68530621
17 PRKAR1A NM_212472.2(PRKAR1A):c.*1837G>TSNV Likely benign 324813 rs201999343 17:66528427-66528427 17:68532286-68532286
18 FAM20A , PRKAR1A NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile)SNV Benign/Likely benign 369223 rs146689929 17:66533733-66533733 17:68537592-68537592
19 PRKAR1A NM_212472.2(PRKAR1A):c.349-5dupduplication Benign/Likely benign 41046 rs3841514 17:66519857-66519858 17:68523716-68523717
20 PRKAR1A NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=)SNV Benign/Likely benign 41047 rs3730349 17:66511627-66511627 17:68515486-68515486
21 PRKAR1A NM_212472.2(PRKAR1A):c.*870G>ASNV Benign 324800 rs8082254 17:66527460-66527460 17:68531319-68531319
22 PRKAR1A NM_212472.2(PRKAR1A):c.*2188C>GSNV Benign 324819 rs6958 17:66528778-66528778 17:68532637-68532637
23 PRKAR1A NM_212472.2(PRKAR1A):c.*1244T>CSNV Benign 324807 rs9925 17:66527834-66527834 17:68531693-68531693
24 PRKAR1A NM_212472.2(PRKAR1A):c.*587dupduplication Benign 324790 rs398041821 17:66527166-66527167 17:68531025-68531026
25 PRKAR1A NM_212472.2(PRKAR1A):c.*1212T>GSNV Benign 324806 rs8905 17:66527802-66527802 17:68531661-68531661
26 PRKAR1A NM_212472.2(PRKAR1A):c.*1777C>TSNV Benign 324811 rs7977 17:66528367-66528367 17:68532226-68532226

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

Sources

Expression for Carney Complex Variant

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

Pathways for Carney Complex Variant

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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
Integrin Pathway 63
Show member pathways
 13.39 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB MYH8
2
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.35 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB PDE11A
3
IL-2 Pathway 63
Show member pathways
 13.26 PRL PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
4
DAG and IP3 signaling 65
Show member pathways
 13.13 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
5
Sweet Taste Signaling 63
Show member pathways
 13.1 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB MYH8
6
G-Beta Gamma Signaling 63
Show member pathways
 13.08 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
7
p70S6K Signaling 63
Show member pathways
 13.06 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
8
Sertoli-Sertoli Cell Junction Dynamics 63
Show member pathways
 12.96 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB MYH8
9
CCR5 Pathway in Macrophages 63
Show member pathways
 12.92 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
10
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.9 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
11
Regulation of lipid metabolism Insulin signaling-generic cascades 22
Show member pathways
 12.88 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
12
Beta-Adrenergic Signaling 63
Show member pathways
 12.85 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
13
Aldosterone synthesis and secretion 36
Show member pathways
 12.83 PRKACB POMC PDE8B PDE11A MEN1 GNAS
14
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.73 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB CDKN1B
15
G-AlphaQ Signaling 63
Show member pathways
 12.72 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
16
NF-KappaB Family Pathway 63
Show member pathways
 12.71 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
17
Neuropathic Pain-Signaling in Dorsal Horn Neurons 63
Show member pathways
 12.71 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
18
Signaling by Hedgehog 65
Show member pathways
 12.66 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
19
Development Dopamine D2 receptor transactivation of EGFR 22
Show member pathways
 12.63 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
20
TRAF Pathway 63
Show member pathways
 12.62 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
21
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.58 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
22
ADP signalling through P2Y purinoceptor 12 65
Show member pathways
 12.58 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
23
GABAergic synapse 36
Show member pathways
 12.52 PRKACB PDE8B PDE11A GNAS
24
Delta508-CFTR traffic / ER-to-Golgi in CF 22
Show member pathways
 12.5 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
25
Aquaporin-mediated transport 65
Show member pathways
 12.5 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
26
G-protein signaling G-Protein alpha-i signaling cascades 22
Show member pathways
 12.44 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
27
Integration of energy metabolism 65
Show member pathways
 12.43 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
28
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.42 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
29
Development A3 receptor signaling 22
Show member pathways
 12.38 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
30
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.38 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
31
AMPK Enzyme Complex Pathway 63
Show member pathways
 12.27 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
32
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.24 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
33
Factors involved in megakaryocyte development and platelet production 65
12.22 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
34
Regulation of CFTR activity (norm and CF) 22
Show member pathways
 12.22 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
35
Colorectal Cancer Metastasis 63
12.2 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
36
Development EGFR signaling via small GTPases 22
Show member pathways
 12.19 PRKAR2B PRKAR2A PRKAR1B PRKAR1A GNAS
37
G alpha (s) signalling events 65
12.15 POMC PDE8B PDE11A GNAS
38
Development A2A receptor signaling 22
Show member pathways
 12.05 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
39
Signal transduction_Erk Interactions- Inhibition of Erk 22
11.81 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
40
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 22
Show member pathways
 11.8 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
41
Glucocorticoid receptor regulatory network 1
11.79 PRL PRKACB POMC
42
G-protein signaling_RhoA regulation pathway 22
11.79 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
43
Signal transduction_PKA signaling 22
11.74 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
44
Development_Leptin signaling via PI3K-dependent pathway 22
11.61 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
45
Netrin Signaling 63
11.54 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
46
NgR-p75(NTR)-Mediated Signaling 63
11.49 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
47
Melanocyte Development and Pigmentation 63
11.25 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
48
14-3-3 and Regulation of BAD Activity 63
11.16 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
49
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.02 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
50
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
11.01 PRL POMC
Sources

GO Terms for Carney Complex Variant

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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 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB PDE8B
2 ciliary base GO:0097546 9.35 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
3 nucleotide-activated protein kinase complex GO:0031588 9.26 PRKAR2A PRKAR1A
4 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 12)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.93 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB F10
2 regulation of protein phosphorylation GO:0001932 9.78 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
3 cGMP-mediated signaling GO:0019934 9.73 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
4 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.71 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
5 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.69 PRKACB GPR101 GNAS
6 regulation of cAMP-dependent protein kinase activity GO:2000479 9.67 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
7 activation of protein kinase A activity GO:0034199 9.65 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
8 regulation of cAMP-mediated signaling GO:0043949 9.62 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
9 regulation of protein kinase A signaling GO:0010738 9.55 PRKAR2B PRKAR2A PRKAR1B PRKAR1A AIP
10 response to clozapine GO:0097338 9.49 PRKAR2B PRKACB
11 renal water homeostasis GO:0003091 9.43 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
12 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 9.62 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
3 protein kinase A catalytic subunit binding GO:0034236 9.56 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
4 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.46 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
5 cAMP-dependent protein kinase regulator activity GO:0008603 9.26 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
6 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.02 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PDE11A
Sources

Sources for Carney Complex Variant

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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