CACOV
MCID: CRN038
MIFTS: 55

Carney Complex Variant (CACOV)

Categories: Bone 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 59 75 29 13 6 40 73
Carney Complex 12 24 53 25 37 29 6 44 15 73
Carney Syndrome 12 24 53 25
Carney Complex, Type 1 12 73
Name Syndrome 12 53
Lamb Syndrome 12 53
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 25
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 25
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 53
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 53
Myxoma - Spotty Pigmentation - Endocrine Overactivity 53
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 59
Carney Myxoma-Endocrine Complex 53
Carney Complex, Type 2 12
Cacov 75
Cnc1 53
Car 53

Characteristics:

HPO:

32
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:



External Ids:

OMIM 57 608837
Disease Ontology 12 DOID:0050471
MeSH 44 D056733
NCIt 50 C4705
Orphanet 59 ORPHA319340
UMLS via Orphanet 74 C1837245
ICD10 via Orphanet 34 Q68.8
MedGen 42 C1837245
KEGG 37 H01820

Summaries for Carney Complex Variant

UniProtKB/Swiss-Prot : 75 Carney complex variant: Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.

MalaCards based summary : Carney Complex Variant, also known as carney complex, is related to acromegaly and acth-independent macronodular adrenal hyperplasia. 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 bone, and related phenotypes are trismus and cardiac myxoma

NIH Rare Diseases : 53 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.

Description from OMIM: 608837
GeneReviews: NBK1286

Related Diseases for Carney Complex Variant

Diseases in the Carney Complex Variant family:

Carney Complex, Type 1 Carney Complex, Type 2

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 acromegaly 32.0 AIP GNAS MEN1
2 acth-independent macronodular adrenal hyperplasia 31.7 GNAS PDE11A
3 primary pigmented nodular adrenocortical disease 31.6 GNAS PDE11A PDE8B PRKACB PRKAR1A
4 pituitary adenoma 30.6 AIP GNAS
5 adenoma 30.5 AIP GNAS MEN1
6 multiple endocrine neoplasia 30.0 MEN1 PRKAR1A
7 acrodysostosis 29.9 GNAS PRKAR1A
8 multiple endocrine neoplasia, type i 29.7 GNAS MEN1 PRKAR1A
9 pituitary tumors 29.7 AIP GNAS MEN1
10 conn's syndrome 29.5 GNAS MEN1 PDE11A PRKAR1A
11 carney complex, type 1 12.5
12 carney complex, type 2 11.6
13 neurilemmoma 11.4
14 gigantism 11.4
15 pigmented nodular adrenocortical disease, primary, 1 11.1
16 thyroid cancer, nonmedullary, 2 11.1
17 thyroid cancer, nonmedullary, 1 11.1
18 carney triad 11.1
19 thyroid cancer, nonmedullary, 3 11.1
20 adrenal carcinoma 11.1
21 paragangliomas 1 11.0
22 tièche-jadassohn nevus 10.3
23 melanotic neurilemmoma 10.1 MYH8 PRKAR1A
24 silent pituitary adenoma 10.1 AIP MEN1
25 null pituitary adenoma 10.1 AIP MEN1
26 mccune-albright syndrome 10.1
27 adrenal cortex disease 10.1 PDE11A PRKAR1A
28 pseudopseudohypoparathyroidism 10.1 GNAS PRKAR1A
29 lipomatosis 10.1 MEN1 PRKAR1A
30 albright's hereditary osteodystrophy 10.0 GNAS PRKAR1A
31 endocrine organ benign neoplasm 10.0 AIP MEN1
32 sertoli cell tumor 10.0
33 multiple endocrine neoplasia, type iv 10.0 AIP MEN1 PRKAR1A
34 growth hormone secreting pituitary adenoma 10.0 AIP GNAS PRKAR1A
35 hypocalcemia, autosomal dominant 1 9.9 GNAS PRKAR1A
36 cell type benign neoplasm 9.9 AIP GNAS MEN1
37 pituitary gland disease 9.9 AIP MEN1
38 atherosclerosis susceptibility 9.9
39 hepatocellular carcinoma 9.9
40 doyne honeycomb retinal dystrophy 9.9
41 marfan syndrome 9.9
42 osteoporosis 9.9
43 pituitary adenoma 4, acth-secreting 9.9
44 male infertility 9.9
45 carotid stenosis 9.9
46 thyroid cancer 9.9
47 melanoma 9.9
48 neurilemmoma of the fifth cranial nerve 9.9
49 teratoma 9.9
50 myxosarcoma 9.9

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



Diseases related to Carney Complex Variant

Symptoms & Phenotypes for Carney Complex Variant

Clinical features from OMIM:

608837

Human phenotypes related to Carney Complex Variant:

32
# Description HPO Frequency HPO Source Accession
1 trismus 32 HP:0000211
2 cardiac myxoma 32 HP:0011672
3 distal arthrogryposis 32 HP:0005684

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 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 liver/biliary system MP:0005370 9.02 AIP GNAS MEN1 PRKAR1A PRKAR2B

Drugs & Therapeutics for Carney Complex Variant

Search Clinical Trials , 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:

41
Skin, Pituitary, Bone, Thyroid, Breast, Heart, Thymus

Publications for Carney Complex Variant

Articles related to Carney Complex Variant:

(show top 50) (show all 256)
# Title Authors Year
1
Carney complex: a case with thyroid follicular adenoma without a PRKAR1A mutation. ( 29666959 )
2018
2
Embolic stroke, left atrial myxoma and gigantism in a patient with Carney complex with additional features suggestive of Marfan syndrome. ( 30077980 )
2018
3
Advanced Atherosclerosis with Leriche Syndrome, in a Patient with Carney Complex. ( 30069243 )
2018
4
Carney complex revealed by a cerebellar ischaemic stroke in a 6-year-old girl. ( 28984035 )
2018
5
Malignant intercostal psammomatous melanotic schwannoma in a patient with Carney complex. ( 29132201 )
2018
6
Failure to Thrive in the Context of Carney Complex. ( 29161691 )
2018
7
Carney complex review: Genetic features. ( 29162369 )
2018
8
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex. ( 29318463 )
2018
9
Left ventricular myxoma with Carney complex. ( 29542870 )
2018
10
Recurrent left atrial myxoma in Carney complex: A case report of a familial pedigree. ( 29561454 )
2018
11
The Spectrum of Thyroid Gland Pathology in Carney Complex: The Importance of Follicular Carcinoma. ( 29635258 )
2018
12
Carney Complex and Cardiac Anesthesia. ( 29735348 )
2018
13
Clinical Manifestations and Molecular Biology of One Case of Carney Complex: A Case Report. ( 29900146 )
2018
14
Carney Complex: A Rare Case of Multicentric Cardiac Myxoma Associated with Endocrinopathy. ( 30065853 )
2018
15
Cytologic diagnosis of unusual, large multiple cutaneous myxomas in a case of Carney complex. ( 30078976 )
2018
16
Genetics of micronodular adrenal hyperplasia and Carney complex. ( 30093212 )
2018
17
Recurrence of cardiac myxoma in the right atrium with Carney complex following resection of myxomas in both ventricles. ( 30094554 )
2018
18
Teaching NeuroImages: Internal carotid artery stenosis due to myxoma in a patient with Carney complex. ( 30150273 )
2018
19
Carney Complex. ( 30428497 )
2018
20
Carney complex: Two case reports and review of literature. ( 30510946 )
2018
21
<i>PRKAR1A</i> mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. ( 28522647 )
2017
22
Corticotropinoma as a Component of Carney Complex. ( 29264542 )
2017
23
Fibrolamellar Carcinoma in the Carney Complex: PRKAR1A Loss Instead of the Classic DNAJB1-PRKACA Fusion. ( 29222914 )
2017
24
An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report. ( 28276158 )
2017
25
Surgical Management of Carney Complex-Associated Pituitary Pathology. ( 27509071 )
2017
26
Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients. ( 27875378 )
2017
27
Organ-sparing surgery for large cell calcifying Sertoli cell tumour in a patient with Carney complex. ( 28710192 )
2017
28
Novel PRKAR1A mutation in Carney complex with cardiac myxoma. ( 28745458 )
2017
29
Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation. ( 28871709 )
2017
30
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion. ( 28973408 )
2017
31
Carney Complex: Eleven Open Heart Operations in a Single Family. ( 29234618 )
2017
32
A Novel Mutation of PRKAR1A Caused Carney Complex in a Chinese Patient. ( 29237939 )
2017
33
Harvey Cushing Treated the First Known Patient With Carney Complex. ( 29264456 )
2017
34
Carney complex with PRKAR1A gene mutation: A case report and literature review. ( 29390296 )
2017
35
Familial Carney complex with biatrial cardiac myxoma. ( 30279766 )
2017
36
Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures. ( 27377598 )
2016
37
Fourth Recurrence of Cardiac Myxoma in a Patient with the Carney Complex. ( 27066435 )
2016
38
Association of Carney Complex with an Intronic Splice Site Mutation in the PRKAR1A Gene. ( 26788925 )
2016
39
Carney Complex with Multiple Cardiac Myxomas, Pigmented Nodular Adrenocortical Hyperplasia, Epithelioid Blue Nevus, and Multiple Calcified Lesions of the Testis: A Case Report. ( 26841936 )
2016
40
Primary Multiple Cardiac Myxomas in a Patient without the Carney Complex. ( 27081449 )
2016
41
A case of Carney complex presenting as acute testicular pain. ( 27453662 )
2016
42
Growth hormone and risk for cardiac tumors in Carney complex. ( 27535175 )
2016
43
Timely screening for Carney complex and PRKAR1A gene mutations. ( 27566888 )
2016
44
Cardio-Oncology: The Carney Complex Type I. ( 27765197 )
2016
45
Carney complex: A familial lentiginosis predisposing to a variety of tumors. ( 27943004 )
2016
46
Osteochondromyxoma: Review of a rare carney complex criterion. ( 28008382 )
2016
47
Carney complex: one more entity with skin and bone manifestations. ( 25590407 )
2015
48
Psammomatous melanotic schwannoma as a component of Carney complex. ( 26275268 )
2015
49
Isolated Large Cell Calcifying Sertoli Cell Tumor in a Young Boy, not Associated with Peutz-Jeghers Syndrome or Carney Complex. ( 26587565 )
2015
50
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family. ( 26416542 )
2015

Variations for Carney Complex Variant

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

75
# Symbol AA change Variation ID SNP ID
1 MYH8 p.Arg674Gln VAR_019810 rs121434590

ClinVar genetic disease variations for Carney Complex Variant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh37 Chromosome 17, 10310241: 10310241
2 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh38 Chromosome 17, 10406924: 10406924
3 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh37 Chromosome 17, 10302192: 10302192
4 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh38 Chromosome 17, 10398875: 10398875

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 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 GNAS MYH8 PRKACB PRKAR1A PRKAR2B
2
Show member pathways
13.15 F10 GNAS PDE11A PRKACB PRKAR1A PRKAR2B
3
Show member pathways
12.96 GNAS PDE8B PRKACB PRKAR1A PRKAR2B
4
Show member pathways
12.93 GNAS MYH8 PRKACB PRKAR1A PRKAR2B
5
Show member pathways
12.89 GNAS PRKACB PRKAR1A PRKAR2B
6
Show member pathways
12.87 GNAS PRKACB PRKAR1A PRKAR2B
7
Show member pathways
12.77 MYH8 PRKACB PRKAR1A PRKAR2B
8
Show member pathways
12.76 GNAS PRKACB PRKAR1A PRKAR2B
9
Show member pathways
12.74 GNAS PRKACB PRKAR1A PRKAR2B
10
Show member pathways
12.72 GNAS PRKACB PRKAR1A PRKAR2B
11
Show member pathways
12.67 GNAS PRKACB PRKAR1A PRKAR2B
12
Show member pathways
12.55 GNAS PRKACB PRKAR1A PRKAR2B
13
Show member pathways
12.55 GNAS PRKACB PRKAR1A PRKAR2B
14
Show member pathways
12.49 GNAS PRKACB PRKAR1A PRKAR2B
15
Show member pathways
12.46 GNAS PRKACB PRKAR1A PRKAR2B
16
Show member pathways
12.45 GNAS PDE11A PDE8B PRKACB
17
Show member pathways
12.43 GNAS PRKACB PRKAR1A PRKAR2B
18
Show member pathways
12.42 GNAS PRKACB PRKAR1A PRKAR2B
19
Show member pathways
12.35 PRKACB PRKAR1A PRKAR2B
20
Show member pathways
12.32 GNAS PRKACB PRKAR1A PRKAR2B
21
Show member pathways
12.3 PRKACB PRKAR1A PRKAR2B
22
Show member pathways
12.26 GNAS PRKACB PRKAR1A PRKAR2B
23
Show member pathways
12.25 GNAS PRKACB PRKAR1A PRKAR2B
24 12.23 GNAS PRKACB PRKAR1A PRKAR2B
25
Show member pathways
12.19 PRKACB PRKAR1A PRKAR2B
26
Show member pathways
12.17 GNAS PRKACB PRKAR1A PRKAR2B
27 12.07 PRKACB PRKAR1A PRKAR2B
28
Show member pathways
12.07 GNAS MYH8 PRKACB PRKAR1A PRKAR2B
29 12.04 PRKACB PRKAR1A PRKAR2B
30
Show member pathways
12.03 GNAS PRKACB PRKAR1A PRKAR2B
31
Show member pathways
12.02 GNAS PRKAR1A PRKAR2B
32 12.01 GNAS PDE11A PDE8B
33
Show member pathways
12 GNAS PRKACB PRKAR1A PRKAR2B
34 11.98 GNAS PRKACB PRKAR1A PRKAR2B
35
Show member pathways
11.84 AIP GNAS MEN1 PDE11A PDE8B PRKACB
36
Show member pathways
11.76 GNAS PRKACB PRKAR1A PRKAR2B
37 11.66 PRKACB PRKAR1A PRKAR2B
38 11.61 GNAS PRKACB PRKAR1A PRKAR2B
39
Show member pathways
11.58 GNAS PRKACB PRKAR1A PRKAR2B
40 11.5 GNAS PRKACB PRKAR1A PRKAR2B
41 11.45 GNAS PRKACB
42 11.45 PRKACB PRKAR1A PRKAR2B
43 11.41 GNAS PRKACB
44 11.4 GNAS PRKACB
45 11.4 PRKACB PRKAR1A PRKAR2B
46 11.38 GNAS PRKACB
47 11.36 PRKACB PRKAR1A PRKAR2B
48 11.35 GNAS PRKACB
49 11.3 PRKACB PRKAR1A PRKAR2B
50 11.29 GNAS PRKACB PRKAR1A PRKAR2B

GO Terms for Carney Complex Variant

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.81 AIP GNAS MEN1 MYH8 PDE11A PDE8B
2 ciliary base GO:0097546 9.13 PRKACB PRKAR1A PRKAR2B
3 cAMP-dependent protein kinase complex GO:0005952 8.8 PRKACB PRKAR1A PRKAR2B

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.62 F10 PRKACB PRKAR1A PRKAR2B
2 regulation of protein phosphorylation GO:0001932 9.48 PRKAR1A PRKAR2B
3 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.46 GNAS PRKACB
4 regulation of protein kinase activity GO:0045859 9.43 PRKAR1A PRKAR2B
5 cGMP-mediated signaling GO:0019934 9.4 PRKAR1A PRKAR2B
6 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.37 PRKAR1A PRKAR2B
7 activation of protein kinase A activity GO:0034199 9.33 PRKACB PRKAR1A PRKAR2B
8 response to clozapine GO:0097338 9.26 PRKACB PRKAR2B
9 renal water homeostasis GO:0003091 9.26 GNAS PRKACB PRKAR1A PRKAR2B
10 cellular response to glucagon stimulus GO:0071377 8.92 GNAS PRKACB PRKAR1A PRKAR2B

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 9.58 PRKACB PRKAR1A PRKAR2B
2 phosphoric diester hydrolase activity GO:0008081 9.43 PDE11A PDE8B
3 cAMP binding GO:0030552 9.37 PRKAR1A PRKAR2B
4 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 9.32 PDE11A PDE8B
5 protein kinase A catalytic subunit binding GO:0034236 9.26 PRKAR1A PRKAR2B
6 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.16 PRKAR1A PRKAR2B
7 cAMP-dependent protein kinase regulator activity GO:0008603 8.96 PRKAR1A PRKAR2B
8 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.8 PDE11A PRKAR1A PRKAR2B

Sources for Carney Complex Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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