CACOV
MCID: CRN038
MIFTS: 62

Carney Complex Variant (CACOV)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Carney Complex Variant

MalaCards integrated aliases for Carney Complex Variant:

Name: Carney Complex Variant 57 11 58 73 12 38 71
Carney Complex 11 24 19 42 58 28 5 43 14 71
Carney Syndrome 11 24 19 42 58
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 19 58
Carney Complex - Trismus - Pseudocamptodactyly Syndrome 28 5
Carney Complex, Type 1 11 71
Name Syndrome 11 19
Lamb Syndrome 11 19
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 42
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 42
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 19
Myxoma - Spotty Pigmentation - Endocrine Overactivity 19
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 58
Carney Myxoma-Endocrine Complex 19
Carney Complex, Type 2 11
Cacov 73
Cnc1 19
Car 19

Characteristics:


Inheritance:

Carney Complex: Autosomal dominant 58

Prevelance:

Carney Complex-Trismus-Pseudocamptodactyly Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Carney Complex-Trismus-Pseudocamptodactyly Syndrome: Neonatal 58
Carney Complex: Infancy,Neonatal 58

GeneReviews:

24
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: 42 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 adrenal carcinoma and multiple endocrine neoplasia. An important gene associated with Carney Complex Variant is MYH8 (Myosin Heavy Chain 8), and among its related pathways/superpathways are Signal Transduction and ERK Signaling. Affiliated tissues include skin, pituitary and bone, and related phenotypes are pigmented micronodular adrenocortical disease and multiple cafe-au-lait spots

UniProtKB/Swiss-Prot: 73 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.

Orphanet 58 Carney complex: Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

Carney complex-trismus-pseudocamptodactyly syndrome: Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).

GARD: 19 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 genetic changes 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 genetic change from one affected parent.

Disease Ontology: 11 A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.

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 293)
# Related Disease Score Top Affiliating Genes
1 adrenal carcinoma 32.1 PRKAR1A POMC PDE8B PDE11A MIR483 MEN1
2 multiple endocrine neoplasia 31.3 PRL PRKAR1A POMC MEN1 GNAS CNC2
3 pituitary tumors 31.2 PRL MEN1 GNAS CNC2
4 bap1 tumor predisposition syndrome 31.2 PRKAR1A MEN1 CDKN1B AIP
5 inherited cancer-predisposing syndrome 31.0 PRKAR1A MEN1 CDKN1B AIP
6 adrenal cortical adenoma 30.8 PRKAR1A POMC MIR483 MEN1
7 hyperthyroidism 30.8 PRL POMC GNAS
8 adrenal adenoma 30.7 PRKAR1A POMC MIR483 MEN1 GNAS CNC2
9 adrenal cortical carcinoma 30.7 PRKAR1A POMC PDE8B PDE11A MIR483 MEN1
10 hyperprolactinemia 30.7 PRL POMC GNAS
11 mccune-albright syndrome 30.7 USP8 PRL PRKAR1A PRKACB POMC PDE8B
12 hyperparathyroidism 30.7 PRKAR1A MEN1 CDKN1B
13 multiple endocrine neoplasia, type i 30.7 PRL PRKAR1A POMC MIR483 MEN1 GPR101
14 acrodysostosis 30.7 PRKAR2B PRKAR1A GNAS
15 ovarian cyst 30.6 PRL GNAS CNC2
16 arthrogryposis, distal, type 7 30.6 PRKAR1A MYHAS MYH8
17 pituitary-dependent cushing's disease 30.6 USP8 PRL POMC
18 primary hyperparathyroidism 30.5 PRL PRKAR1A MEN1 CDKN1B AIP
19 growth hormone secreting pituitary adenoma 30.5 USP8 PRL PRKAR1A POMC MEN1 GPR101
20 acth-secreting pituitary adenoma 30.5 USP8 PRL PRKAR1A POMC MEN1 AIP
21 pituitary adenoma 1, multiple types 30.4 PRL MEN1 AIP
22 functioning pituitary adenoma 30.4 USP8 PRL PRKAR1A POMC MEN1 GPR101
23 pituitary apoplexy 30.4 PRL POMC AIP
24 peutz-jeghers syndrome 30.4 PRKAR1A GNAS CNC2
25 fibrolamellar carcinoma 30.4 PRKAR2B PRKAR2A PRKAR1A PRKACB
26 breast ductal adenoma 30.3 PRKAR1B PRKAR1A PRKACB PDE11A ARMC5
27 acth-independent cushing syndrome 30.3 PRKAR1A PDE8B PDE11A GNAS ARMC5
28 acromegaly 30.3 PRL POMC MEN1 GPR101 GNAS CNC2
29 neuroendocrine tumor 30.3 POMC MEN1 CDKN1B
30 beckwith-wiedemann syndrome 30.3 PRKAR1A PDE11A MIR483 MEN1 GNAS ARMC5
31 prolactinoma 30.3 PRL PRKAR1A POMC MEN1 GNAS AIP
32 hypothyroidism 30.2 PRL POMC PDE8B GNAS
33 melanotic neurilemmoma 30.2 PRL PRKAR1B PRKAR1A PRKACB POMC PDE8B
34 multiple endocrine neoplasia, type iv 30.2 USP8 PRKAR1A MEN1 GPR101 GNAS CDKN1B
35 li-fraumeni syndrome 30.2 PRKAR1A MIR483 MEN1
36 acth-independent macronodular adrenal hyperplasia 30.1 PRKAR2B PRKAR1A POMC PDE8B PDE11A MEN1
37 adenoma 30.1 USP8 PRL PRKAR1A POMC MEN1 GNAS
38 pituitary gland disease 30.1 USP8 PRL PRKAR1A POMC MEN1 GPR101
39 pituitary adenoma 30.0 USP8 PRL PRKAR1A POMC MEN1 GNAS
40 conn's syndrome 29.9 USP8 PRL PRKAR1B PRKAR1A PRKACB POMC
41 primary pigmented nodular adrenocortical disease 29.8 PRL PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
42 carney complex, type 1 11.7
43 carney complex, type 2 11.5
44 thyroid cancer, nonmedullary, 1 11.1
45 thyroid cancer, nonmedullary, 2 11.1
46 lentiginosis, inherited patterned 11.1
47 gastrointestinal defects and immunodeficiency syndrome 1 11.1
48 thyroid cancer, nonmedullary, 3 11.1
49 isolated melanotic schwannoma 11.1
50 pigmented nodular adrenocortical disease, primary, 1 11.0

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 30 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pigmented micronodular adrenocortical disease 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001580
2 multiple cafe-au-lait spots 58 30 Frequent (33%) Frequent (79-30%)
HP:0007565
3 multiple lentigines 58 30 Frequent (33%) Frequent (79-30%)
HP:0001003
4 pituitary growth hormone cell adenoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0011760
5 blue nevus 58 30 Frequent (33%) Frequent (79-30%)
HP:0100814
6 spotty hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0005585
7 increased circulating cortisol level 58 30 Frequent (33%) Frequent (79-30%)
HP:0003118
8 increased circulating prolactin concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0000870
9 cardiac myxoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0011672
10 cutaneous myxoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0030428
11 euthyroid multinodular goiter 58 30 Frequent (33%) Frequent (79-30%)
HP:0000866
12 atypical nevi in non-sun exposed areas 58 30 Frequent (33%) Frequent (79-30%)
HP:0001074
13 sertoli cell neoplasm 58 30 Frequent (33%) Frequent (79-30%)
HP:0100619
14 elevated circulating growth hormone concentration 30 Frequent (33%) HP:0000845
15 increased circulating insulin-like growth factor 1 concentration 30 Frequent (33%) HP:0030269
16 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
17 muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001324
18 behavioral abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000708
19 macroorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000053
20 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
21 striae distensae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001065
22 stroke 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001297
23 bruising susceptibility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000978
24 gynecomastia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000771
25 esophageal neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100751
26 neoplasm of the stomach 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006753
27 hirsutism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001007
28 decreased fertility in males 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012041
29 oligospermia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000798
30 enchondroma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030038
31 tongue nodules 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000199
32 fibroadenoma of the breast 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010619
33 thromboembolism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001907
34 abdominal obesity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012743
35 dorsocervical fat pad 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025383
36 moon facies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0500011
37 ovarian serous cystadenoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012887
38 nodular changes affecting the eyelids 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010732
39 abnormal sperm motility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012206
40 ovarian dermoid cyst 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025274
41 ovarian carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025318
42 testicular adrenal rest tumor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025451
43 paranasal sinus neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030072
44 ductal carcinoma in situ 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030075
45 schwannoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100008
46 leydig cell neoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100618
47 neoplasm of the pharynx 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100638
48 abnormal hard palate morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100737
49 precocious puberty 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000826
50 tall stature 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000098

Clinical features from OMIM®:

608837 (Updated 08-Dec-2022)

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 GR00221-A-1 9.36 CDKN1B PRKACB PRKAR1A PRKAR1B PRKAR2A
2 Decreased viability GR00221-A-2 9.36 PRKAR1A PRKAR1B
3 Decreased viability GR00221-A-3 9.36 PRKAR1A PRKAR1B
4 Decreased viability GR00221-A-4 9.36 PRKAR1A PRKAR2A
5 Decreased viability after gemcitabine stimulation GR00107-A-2 9.13 PRKACB PRKAR1A PRKAR2B

MGI Mouse Phenotypes related to Carney Complex Variant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.7 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
2 liver/biliary system MP:0005370 9.61 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
3 embryo MP:0005380 9.28 AIP ARMC5 CDKN1B GNAS MEN1 MYH8

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 28
2 Carney Complex - Trismus - Pseudocamptodactyly Syndrome 28 MYH8

Anatomical Context for Carney Complex Variant

Organs/tissues related to Carney Complex Variant:

MalaCards : Skin, Pituitary, Bone, Thyroid, Heart, Breast, Testes

Publications for Carney Complex Variant

Articles related to Carney Complex Variant:

(show top 50) (show all 848)
# Title Authors PMID Year
1
Mutation of perinatal myosin heavy chain associated with a Carney complex variant. 62 24 57 5
15282353 2004
2
Mutation of perinatal myosin heavy chain. 24 57 5
15590965 2004
3
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. 62 57 5
17041932 2006
4
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 62 24 5
16464939 2006
5
The myxoma syndrome: an unusual entity. A family study. 57 5
1600999 1992
6
Bilateral primary pigmented nodular adrenal disease as a component of Carney syndrome - case report. 62 5
28255981 2017
7
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. 62 5
21047926 2011
8
Ectopic thymus presenting as a thyroid nodule in a patient with the Carney complex. 62 5
19265501 2009
9
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. 62 5
18049072 2008
10
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. 62 5
12213893 2002
11
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. 62 5
11115848 2000
12
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. 62 5
10974026 2000
13
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion. 62 24
28973408 2017
14
PRKACB and Carney complex. 62 24
24571725 2014
15
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 62 24
24170103 2014
16
Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations. 5
22259056 2012
17
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. 5
20949528 2010
18
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. 62 24
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. 62 24
19293268 2009
20
Heterogeneity of skin manifestations in patients with Carney complex. 62 24
18804312 2008
21
Large deletions of the PRKAR1A gene in Carney complex. 62 24
18223213 2008
22
Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas. 62 24
16001434 2005
23
GH-secreting pituitary adenomas infrequently contain inactivating mutations of PRKAR1A and LOH of 17q23-24. 62 24
12641630 2003
24
Surgical correction of trismus in a child with Hecht syndrome. 5
12800911 2003
25
Isolated familial somatotropinomas: clinical and genetic considerations. 62 24
12813918 2003
26
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. 62 24
12424709 2002
27
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex. 62 24
12471216 2002
28
Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer. 62 24
12203783 2002
29
Genetic alterations of Carney complex are not present in sporadic cardiac myxomas. 62 24
11744997 2002
30
Genetic background of adrenocortical tumor development. 62 24
11572037 2001
31
Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. 62 24
11095480 2000
32
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. 62 24
10973256 2000
33
Neurosurgical implications of Carney complex. 62 24
10701527 2000
34
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. 62 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. 62 24
8609225 1996
36
Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. 5
4443857 1974
37
The trismus-pseudocampylodactyly syndrome. 5
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
Efficacy of aromatase inhibitor therapy in a case with large cell calcifying Sertoli cell tumour-associated prepubertal gynaecomastia. 62
36181314 2022
45
Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation. 62
36456122 2022
46
Bilateral tympanic myxoma: A CARE case report. 62
36333210 2022
47
Abnormal Fibroblasts Drive Pigmentary Skin Lesions in a Mouse Model of Carney Complex. 62
36273836 2022
48
The Spectrum of Familial Pituitary Neuroendocrine Tumors. 62
36401106 2022
49
Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome. 62
35568059 2022
50
A Novel Missense PRKAR1A Variant Causes Carney Complex. 62
36193716 2022

Variations for Carney Complex Variant

ClinVar genetic disease variations for Carney Complex Variant:

5 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKAR1A NM_002734.5(PRKAR1A):c.709-7_709-2del MICROSAT Pathogenic
12675 rs281864801 GRCh37: 17:66523965-66523970
GRCh38: 17:68527824-68527829
2 PRKAR1A NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter) SNV Pathogenic
41391 rs281864784 GRCh37: 17:66522027-66522027
GRCh38: 17:68525886-68525886
3 MYH8, MYHAS NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) SNV Pathogenic
14136 rs121434590 GRCh37: 17:10310241-10310241
GRCh38: 17:10406924-10406924
4 PRKAR1A NM_002734.5(PRKAR1A):c.623del (p.Gly208fs) DEL Pathogenic
164995 rs727503379 GRCh37: 17:66521967-66521967
GRCh38: 17:68525826-68525826
5 PRKAR1A NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) SNV Uncertain Significance
12674 rs137853303 GRCh37: 17:66518939-66518939
GRCh38: 17:68522798-68522798
6 PRKAR1A NM_002734.5(PRKAR1A):c.-53C>T SNV Uncertain Significance
324777 rs886053304 GRCh37: 17:66508643-66508643
GRCh38: 17:68512502-68512502
7 PRKAR1A NM_002734.5(PRKAR1A):c.*1118dup DUP Uncertain Significance
324804 rs886053312 GRCh37: 17:66527701-66527702
GRCh38: 17:68531560-68531561
8 MYH8, MYHAS NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter) SNV Uncertain Significance
225416 rs150008607 GRCh37: 17:10302192-10302192
GRCh38: 17:10398875-10398875
9 MYH8, MYHAS NM_002472.3(MYH8):c.4724T>C (p.Val1575Ala) SNV Uncertain Significance
931773 rs61730805 GRCh37: 17:10298688-10298688
GRCh38: 17:10395371-10395371
10 MYH8, MYHAS NM_002472.3(MYH8):c.1640C>T (p.Thr547Met) SNV Uncertain Significance
931774 rs149040691 GRCh37: 17:10312853-10312853
GRCh38: 17:10409536-10409536
11 MYH8, MYHAS NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) SNV Uncertain Significance
634583 rs34124921 GRCh37: 17:10317540-10317540
GRCh38: 17:10414223-10414223
12 PRKAR1A NM_002734.5(PRKAR1A):c.*587del DEL Uncertain Significance
324791 rs398041821 GRCh37: 17:66527167-66527167
GRCh38: 17:68531026-68531026
13 PRKAR1A NM_002734.5(PRKAR1A):c.*138C>A SNV Likely Benign
324784 rs28730842 GRCh37: 17:66526728-66526728
GRCh38: 17:68530587-68530587
14 PRKAR1A NM_002734.5(PRKAR1A):c.*759C>T SNV Likely Benign
324796 rs62087489 GRCh37: 17:66527349-66527349
GRCh38: 17:68531208-68531208
15 PRKAR1A NM_002734.5(PRKAR1A):c.*1837G>T SNV Likely Benign
324813 rs201999343 GRCh37: 17:66528427-66528427
GRCh38: 17:68532286-68532286
16 PRKAR1A NM_002734.5(PRKAR1A):c.*847A>G SNV Likely Benign
324799 rs144299673 GRCh37: 17:66527437-66527437
GRCh38: 17:68531296-68531296
17 PRKAR1A NM_002734.5(PRKAR1A):c.*151A>G SNV Likely Benign
324785 rs11540571 GRCh37: 17:66526741-66526741
GRCh38: 17:68530600-68530600
18 PRKAR1A NM_002734.5(PRKAR1A):c.*172_*175del DEL Likely Benign
324787 rs201146882 GRCh37: 17:66526759-66526762
GRCh38: 17:68530618-68530621
19 PRKAR1A NM_002734.5(PRKAR1A):c.*1835del DEL Likely Benign
324812 rs138320066 GRCh37: 17:66528423-66528423
GRCh38: 17:68532282-68532282
20 PRKAR1A NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) SNV Likely Benign
41047 rs3730349 GRCh37: 17:66511627-66511627
GRCh38: 17:68515486-68515486
21 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) SNV Likely Benign
369223 rs146689929 GRCh37: 17:66533733-66533733
GRCh38: 17:68537592-68537592
22 PRKAR1A NM_002734.5(PRKAR1A):c.349-5dup DUP Benign
41046 rs3841514 GRCh37: 17:66519857-66519858
GRCh38: 17:68523716-68523717
23 PRKAR1A NM_002734.5(PRKAR1A):c.*1244T>C SNV Benign
324807 rs9925 GRCh37: 17:66527834-66527834
GRCh38: 17:68531693-68531693
24 MYH8, MYHAS NM_002472.3(MYH8):c.3320del (p.Leu1107fs) DEL Benign
397646 rs751871946 GRCh37: 17:10304211-10304211
GRCh38: 17:10400894-10400894
25 PRKAR1A NM_002734.5(PRKAR1A):c.*2188C>G SNV Benign
324819 rs6958 GRCh37: 17:66528778-66528778
GRCh38: 17:68532637-68532637
26 PRKAR1A NM_002734.5(PRKAR1A):c.*1212T>G SNV Benign
324806 rs8905 GRCh37: 17:66527802-66527802
GRCh38: 17:68531661-68531661
27 PRKAR1A NM_002734.5(PRKAR1A):c.*587dup DUP Benign
324790 rs398041821 GRCh37: 17:66527166-66527167
GRCh38: 17:68531025-68531026
28 PRKAR1A NM_002734.5(PRKAR1A):c.*870G>A SNV Benign
324800 rs8082254 GRCh37: 17:66527460-66527460
GRCh38: 17:68531319-68531319
29 PRKAR1A NM_002734.5(PRKAR1A):c.*1777C>T SNV Benign
324811 rs7977 GRCh37: 17:66528367-66528367
GRCh38: 17:68532226-68532226
30 PRKAR1A NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter) SNV Not Provided
379923 rs141913727 GRCh37: 17:66521085-66521085
GRCh38: 17:68524944-68524944
31 PRKAR1A NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) SNV Not Provided
29907 rs387906692 GRCh37: 17:66526546-66526546
GRCh38: 17:68530405-68530405

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 61)
# Super pathways Score Top Affiliating Genes
1 13.81 USP8 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
2
Show member pathways
13.8 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB MYH8
3
Show member pathways
13.62 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
4
Show member pathways
13.5 CDKN1B GNAS PRKACB PRKAR1A PRKAR1B PRKAR2A
5
Show member pathways
13.41 GNAS MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2A
6
Show member pathways
13.31 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB PDE11A
7
Show member pathways
13.29 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB PDE8B
8
Show member pathways
13.27 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB MYH8
9
Show member pathways
13.25 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
10
Show member pathways
13.11 GNAS MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2A
11
Show member pathways
13.09 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB CDKN1B
12
Show member pathways
13.07 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B
13
Show member pathways
12.96 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB MYH8
14
Show member pathways
12.94 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B
15
Show member pathways
12.91 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
16
Show member pathways
12.9 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B
17
Show member pathways
12.83 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB CDKN1B
18
Show member pathways
12.81 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
19
Show member pathways
12.77 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
20
Show member pathways
12.74 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
21
Show member pathways
12.73 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
22
Show member pathways
12.73 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
23
Show member pathways
12.73 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB POMC
24
Show member pathways
12.72 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
25
Show member pathways
12.69 CDKN1B GNAS PRKACB PRKAR1A PRKAR1B PRKAR2A
26
Show member pathways
12.65 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
27
Show member pathways
12.6 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
28
Show member pathways
12.57 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
29
Show member pathways
12.52 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B
30
Show member pathways
12.5 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
31 12.45 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B
32
Show member pathways
12.42 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
33
Show member pathways
12.41 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
34
Show member pathways
12.39 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
35
Show member pathways
12.27 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
36
Show member pathways
12.26 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B
37 12.25 PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B
38 12.24 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
39
Show member pathways
12.21 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
40
Show member pathways
12.08 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B
41
Show member pathways
12.06 PRKAR2B PRKAR2A PRKAR1B PRKAR1A GNAS
42
Show member pathways
11.98 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
43 11.85 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
44
Show member pathways
11.84 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
45 11.81 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
46 11.78 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB GNAS
47 11.64 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
48 11.58 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
49 11.54 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
50
Show member pathways
11.48 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB 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 ciliary base GO:0097546 9.65 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB
2 nucleotide-activated protein kinase complex GO:0031588 9.46 PRKAR2A PRKAR1A
3 cAMP-dependent protein kinase complex GO:0005952 9.32 PRKAR2B PRKAR2A PRKAR1B PRKAR1A PRKACB

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

# Name GO ID Score Top Affiliating Genes
1 regulation of protein phosphorylation GO:0001932 9.26 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
2 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.23 PRKAR2B PRKAR2A PRKAR1B PRKAR1A

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 10.02 PRKAR2B PRKAR2A PRKAR1A PRKACB CDKN1B
2 cAMP binding GO:0030552 9.86 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
3 protein kinase A catalytic subunit binding GO:0034236 9.76 PRKAR1A PRKAR1B PRKAR2A PRKAR2B
4 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.56 PRKAR2B PRKAR2A PRKAR1B PRKAR1A
5 cAMP-dependent protein kinase regulator activity GO:0008603 9.23 PRKAR2B PRKAR2A PRKAR1B PRKAR1A

Sources for Carney Complex Variant

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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