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CACOV
MCID: CRN038
MIFTS: 62

Carney Complex Variant (CACOV)

Categories: Bone 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 58 12 60 76 30 13 6 41 74
Carney Complex 12 25 54 26 38 30 6 45 15 74
Carney Syndrome 12 25 54 26
Carney Complex, Type 1 12 74
Name Syndrome 12 54
Lamb Syndrome 12 54
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 26
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 26
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 54
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 54
Myxoma - Spotty Pigmentation - Endocrine Overactivity 54
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 60
Carney Myxoma-Endocrine Complex 54
Carney Complex, Type 2 12
Cacov 76
Cnc1 54
Car 54

Characteristics:

HPO:

33
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Carney Complex Variant

About this section
UniProtKB/Swiss-Prot : 76 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 gigantism 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 Signaling by GPCR and Response to elevated platelet cytosolic Ca2+. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include skin, pituitary and thyroid, and related phenotypes are pigmented micronodular adrenocortical disease and multiple lentigines

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

Genetics Home Reference : 26 Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.

NIH Rare Diseases : 54 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
Sources

Related Diseases for Carney Complex Variant

About this section

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 83)
# Related Disease Score Top Affiliating Genes
1 gigantism 32.5 AIP GPR101
2 acth-independent macronodular adrenal hyperplasia 31.9 GNAS PDE11A
3 primary pigmented nodular adrenocortical disease 31.7 GNAS PDE11A PDE8B POMC PRKACB PRKAR1A
4 thyroid cancer, nonmedullary, 2 31.4 MEN1 POMC SRGAP1
5 acrodysostosis 30.2 GNAS PRKAR1A
6 multiple endocrine neoplasia 30.1 CDKN1B MEN1 PRKAR1A
7 adenoma 29.9 AIP GNAS GPR101 MEN1 POMC USP8
8 pituitary tumors 29.9 AIP GNAS MEN1 POMC
9 conn's syndrome 29.7 GNAS MEN1 PDE11A POMC PRKAR1A
10 multiple endocrine neoplasia, type i 29.6 CDKN1B CNC2 GNAS MEN1 PRKAR1A
11 acromegaly 29.5 AIP GNAS GPR101 MEN1 POMC
12 carney complex, type 1 12.5
13 carney complex, type 2 11.7
14 neurilemmoma 11.5
15 pigmented nodular adrenocortical disease, primary, 1 11.2
16 thyroid cancer, nonmedullary, 1 11.1
17 carney triad 11.1
18 thyroid cancer, nonmedullary, 3 11.1
19 adrenal carcinoma 11.1
20 paragangliomas 1 11.0
21 melanotic neurilemmoma 10.4 MYH8 PRKAR1A
22 silent pituitary adenoma 10.4 AIP MEN1
23 null pituitary adenoma 10.4 AIP MEN1
24 pituitary adenoma 10.3
25 tièche-jadassohn nevus 10.3
26 pseudopseudohypoparathyroidism 10.3 GNAS PRKAR1A
27 pituitary apoplexy 10.3 AIP POMC
28 melanocytic nevus syndrome, congenital 10.3 CNC2 PRKAR1A
29 male reproductive organ benign neoplasm 10.2 POMC PRKAR1A
30 nemaline myopathy 4 10.2 CDKN1B MEN1
31 growth hormone secreting pituitary adenoma 10.2 AIP GNAS PRKAR1A
32 hyperpituitarism 10.2 AIP POMC
33 pancreatic intraductal papillary-mucinous neoplasm 10.2 CDKN1B GNAS
34 endocrine organ benign neoplasm 10.2 AIP MEN1 POMC
35 pituitary gland disease 10.2 AIP MEN1 POMC
36 mccune-albright syndrome 10.1
37 familial isolated pituitary adenoma 10.1 AIP CDKN1B CNC2
38 adrenocortical carcinoma, hereditary 10.1 GNAS POMC PRKAR1A
39 hormone producing pituitary cancer 10.1 AIP GNAS MEN1 PRKAR1A
40 primary hyperparathyroidism 10.1 CDKN1B MEN1 PRKAR1A
41 hyperparathyroidism 10.1 CDKN1B MEN1 PRKAR1A
42 albright's hereditary osteodystrophy 10.1 GNAS PRKAR1A
43 sertoli cell tumor 10.1
44 multiple endocrine neoplasia, type iib 10.0 CDKN1B MEN1
45 acth-secreting pituitary adenoma 10.0 POMC USP8
46 cell type benign neoplasm 10.0 AIP GNAS MEN1 POMC
47 multiple endocrine neoplasia, type iv 10.0 AIP CDKN1B MEN1 PRKAR1A
48 functioning pituitary adenoma 9.9 MEN1 POMC
49 atherosclerosis susceptibility 9.9
50 hepatocellular carcinoma 9.9

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:

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

Clinical features from OMIM:

608837

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.28 CDKN1B GNAS MEN1 PDE8B POMC PRKAR1A
2 Decreased viability after gemcitabine stimulation GR00107-A-2 9.13 PRKACB PRKAR1A PRKAR2B

MGI Mouse Phenotypes related to Carney Complex Variant:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 AIP CDKN1B F10 GNAS GPR101 MEN1
2 integument MP:0010771 9.7 AIP CDKN1B GNAS POMC PRKAR1A PRKAR1B
3 liver/biliary system MP:0005370 9.56 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
4 neoplasm MP:0002006 9.1 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
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3 Hormones
4 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
2 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
3 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
4 Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex Recruiting NCT00001452
5 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Carney Complex Variant

Cochrane evidence based reviews: carney complex

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 30
2 Carney Complex Variant 30 MYH8
Sources

Anatomical Context for Carney Complex Variant

About this section

MalaCards organs/tissues related to Carney Complex Variant:

42
Skin, Pituitary, Thyroid, Breast, Bone, Heart, Pancreas
Sources

Publications for Carney Complex Variant

About this section

Articles related to Carney Complex Variant:

(show top 50) (show all 262)
# Title Authors Year
1
Hyperglycemia and Hypokalemia in a 16-Year-Old Overweight Female Patient Misdiagnosed with Cushing Syndrome at First and Ultimately Diagnosed with Carney Complex Proven by PRKAR1A Gene Test: a Case Report and Literature Review. ( 30868845 )
2019
2
Clinical features and surgical results of cardiac myxoma in Carney complex. ( 30625253 )
2019
3
Cutaneous myxomas and a psammomatous melanotic schwannoma in a patient with Carney complex. ( 30632654 )
2019
4
Teaching NeuroImages: CRAO and silent brain infarcts caused by cardiac myxomas in Carney complex. ( 30643037 )
2019
5
Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report. ( 30699069 )
2019
6
Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation. ( 30897549 )
2019
7
Carney complex: a case with thyroid follicular adenoma without a PRKAR1A mutation. ( 29666959 )
2018
8
Embolic stroke, left atrial myxoma and gigantism in a patient with Carney complex with additional features suggestive of Marfan syndrome. ( 30077980 )
2018
9
Advanced Atherosclerosis with Leriche Syndrome, in a Patient with Carney Complex. ( 30069243 )
2018
10
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex. ( 29318463 )
2018
11
Left ventricular myxoma with Carney complex. ( 29542870 )
2018
12
Recurrent left atrial myxoma in Carney complex: A case report of a familial pedigree. ( 29561454 )
2018
13
The Spectrum of Thyroid Gland Pathology in Carney Complex: The Importance of Follicular Carcinoma. ( 29635258 )
2018
14
Carney Complex and Cardiac Anesthesia. ( 29735348 )
2018
15
Clinical Manifestations and Molecular Biology of One Case of Carney Complex: A Case Report. ( 29900146 )
2018
16
Carney Complex: A Rare Case of Multicentric Cardiac Myxoma Associated with Endocrinopathy. ( 30065853 )
2018
17
Cytologic diagnosis of unusual, large multiple cutaneous myxomas in a case of Carney complex. ( 30078976 )
2018
18
Genetics of micronodular adrenal hyperplasia and Carney complex. ( 30093212 )
2018
19
Recurrence of cardiac myxoma in the right atrium with Carney complex following resection of myxomas in both ventricles. ( 30094554 )
2018
20
Teaching NeuroImages: Internal carotid artery stenosis due to myxoma in a patient with Carney complex. ( 30150273 )
2018
21
Carney Complex. ( 30428497 )
2018
22
Carney complex: Two case reports and review of literature. ( 30510946 )
2018
23
Carney complex revealed by a cerebellar ischaemic stroke in a 6-year-old girl. ( 28984035 )
2018
24
Malignant intercostal psammomatous melanotic schwannoma in a patient with Carney complex. ( 29132201 )
2018
25
Failure to Thrive in the Context of Carney Complex. ( 29161691 )
2018
26
Carney complex review: Genetic features. ( 29162369 )
2018
27
<i>PRKAR1A</i> mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. ( 28522647 )
2017
28
Corticotropinoma as a Component of Carney Complex. ( 29264542 )
2017
29
Fibrolamellar Carcinoma in the Carney Complex: PRKAR1A Loss Instead of the Classic DNAJB1-PRKACA Fusion. ( 29222914 )
2017
30
An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report. ( 28276158 )
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
Surgical Management of Carney Complex-Associated Pituitary Pathology. ( 27509071 )
2017
36
Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients. ( 27875378 )
2017
37
Organ-sparing surgery for large cell calcifying Sertoli cell tumour in a patient with Carney complex. ( 28710192 )
2017
38
Novel PRKAR1A mutation in Carney complex with cardiac myxoma. ( 28745458 )
2017
39
Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation. ( 28871709 )
2017
40
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion. ( 28973408 )
2017
41
Familial Carney complex with biatrial cardiac myxoma. ( 30279766 )
2017
42
Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures. ( 27377598 )
2016
43
Fourth Recurrence of Cardiac Myxoma in a Patient with the Carney Complex. ( 27066435 )
2016
44
Association of Carney Complex with an Intronic Splice Site Mutation in the PRKAR1A Gene. ( 26788925 )
2016
45
A case of Carney complex presenting as acute testicular pain. ( 27453662 )
2016
46
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
47
Primary Multiple Cardiac Myxomas in a Patient without the Carney Complex. ( 27081449 )
2016
48
Growth hormone and risk for cardiac tumors in Carney complex. ( 27535175 )
2016
49
Timely screening for Carney complex and PRKAR1A gene mutations. ( 27566888 )
2016
50
Cardio-Oncology: The Carney Complex Type I. ( 27765197 )
2016
Sources

Variations for Carney Complex Variant

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

76
# Symbol AA change Variation ID SNP ID
1 MYH8 p.Arg674Gln VAR_019810 rs121434590

ClinVar genetic disease variations for Carney Complex Variant:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_002734.4(PRKAR1A): c.623delG (p.Gly208Glufs) deletion Pathogenic rs727503379 GRCh37 Chromosome 17, 66521968: 66521968
2 PRKAR1A NM_002734.4(PRKAR1A): c.623delG (p.Gly208Glufs) deletion Pathogenic rs727503379 GRCh38 Chromosome 17, 68525827: 68525827
3 PRKAR1A NM_002734.4(PRKAR1A): c.220C> T (p.Arg74Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853303 GRCh37 Chromosome 17, 66518939: 66518939
4 PRKAR1A NM_002734.4(PRKAR1A): c.220C> T (p.Arg74Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853303 GRCh38 Chromosome 17, 68522798: 68522798
5 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh37 Chromosome 17, 66523974: 66523979
6 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh38 Chromosome 17, 68527833: 68527838
7 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh37 Chromosome 17, 10310241: 10310241
8 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh38 Chromosome 17, 10406924: 10406924
9 PRKAR1A NM_002734.4(PRKAR1A): c.204G> A (p.Leu68=) single nucleotide variant Benign/Likely benign rs74863634 GRCh37 Chromosome 17, 66518923: 66518923
10 PRKAR1A NM_002734.4(PRKAR1A): c.204G> A (p.Leu68=) single nucleotide variant Benign/Likely benign rs74863634 GRCh38 Chromosome 17, 68522782: 68522782
11 PRKAR1A NM_002734.4(PRKAR1A): c.349-5dupT duplication Benign/Likely benign rs3841514 GRCh37 Chromosome 17, 66519861: 66519861
12 PRKAR1A NM_002734.4(PRKAR1A): c.349-5dupT duplication Benign/Likely benign rs3841514 GRCh38 Chromosome 17, 68523720: 68523720
13 PRKAR1A NM_002734.4(PRKAR1A): c.87G> A (p.Ala29=) single nucleotide variant Benign/Likely benign rs3730349 GRCh37 Chromosome 17, 66511627: 66511627
14 PRKAR1A NM_002734.4(PRKAR1A): c.87G> A (p.Ala29=) single nucleotide variant Benign/Likely benign rs3730349 GRCh38 Chromosome 17, 68515486: 68515486
15 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh37 Chromosome 17, 10302192: 10302192
16 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh38 Chromosome 17, 10398875: 10398875
17 PRKAR1A NM_002734.4(PRKAR1A): c.221G> A (p.Arg74His) single nucleotide variant Conflicting interpretations of pathogenicity rs200069356 GRCh37 Chromosome 17, 66518940: 66518940
18 PRKAR1A NM_002734.4(PRKAR1A): c.221G> A (p.Arg74His) single nucleotide variant Conflicting interpretations of pathogenicity rs200069356 GRCh38 Chromosome 17, 68522799: 68522799
19 PRKAR1A NM_002734.4(PRKAR1A): c.546G> A (p.Thr182=) single nucleotide variant Likely benign rs117639566 GRCh37 Chromosome 17, 66521096: 66521096
20 PRKAR1A NM_002734.4(PRKAR1A): c.546G> A (p.Thr182=) single nucleotide variant Likely benign rs117639566 GRCh38 Chromosome 17, 68524955: 68524955
21 PRKAR1A NM_002734.4(PRKAR1A): c.-6-7C> T single nucleotide variant Uncertain significance rs373646911 GRCh38 Chromosome 17, 68515387: 68515387
22 PRKAR1A NM_002734.4(PRKAR1A): c.-6-7C> T single nucleotide variant Uncertain significance rs373646911 GRCh37 Chromosome 17, 66511528: 66511528
23 PRKAR1A NM_002734.4(PRKAR1A): c.*526G> A single nucleotide variant Uncertain significance rs886053308 GRCh38 Chromosome 17, 68530975: 68530975
24 PRKAR1A NM_002734.4(PRKAR1A): c.*526G> A single nucleotide variant Uncertain significance rs886053308 GRCh37 Chromosome 17, 66527116: 66527116
25 PRKAR1A NM_002734.4(PRKAR1A): c.*724T> A single nucleotide variant Uncertain significance rs746409603 GRCh38 Chromosome 17, 68531173: 68531173
26 PRKAR1A NM_002734.4(PRKAR1A): c.*724T> A single nucleotide variant Uncertain significance rs746409603 GRCh37 Chromosome 17, 66527314: 66527314
27 PRKAR1A NM_002734.4(PRKAR1A): c.*759C> T single nucleotide variant Likely benign rs62087489 GRCh38 Chromosome 17, 68531208: 68531208
28 PRKAR1A NM_002734.4(PRKAR1A): c.*759C> T single nucleotide variant Likely benign rs62087489 GRCh37 Chromosome 17, 66527349: 66527349
29 PRKAR1A NM_002734.4(PRKAR1A): c.*795G> T single nucleotide variant Likely benign rs150031305 GRCh38 Chromosome 17, 68531244: 68531244
30 PRKAR1A NM_002734.4(PRKAR1A): c.*795G> T single nucleotide variant Likely benign rs150031305 GRCh37 Chromosome 17, 66527385: 66527385
31 PRKAR1A NM_002734.4(PRKAR1A): c.*1842A> T single nucleotide variant Uncertain significance rs886053317 GRCh38 Chromosome 17, 68532291: 68532291
32 PRKAR1A NM_002734.4(PRKAR1A): c.*1842A> T single nucleotide variant Uncertain significance rs886053317 GRCh37 Chromosome 17, 66528432: 66528432
33 PRKAR1A NM_002734.4(PRKAR1A): c.*2072G> A single nucleotide variant Uncertain significance rs886053319 GRCh38 Chromosome 17, 68532521: 68532521
34 PRKAR1A NM_002734.4(PRKAR1A): c.*2072G> A single nucleotide variant Uncertain significance rs886053319 GRCh37 Chromosome 17, 66528662: 66528662
35 PRKAR1A NM_002734.4(PRKAR1A): c.-75G> T single nucleotide variant Likely benign rs559757120 GRCh38 Chromosome 17, 68512480: 68512480
36 PRKAR1A NM_002734.4(PRKAR1A): c.-75G> T single nucleotide variant Likely benign rs559757120 GRCh37 Chromosome 17, 66508621: 66508621
37 PRKAR1A NM_002734.4(PRKAR1A): c.-25C> T single nucleotide variant Likely benign rs546338099 GRCh38 Chromosome 17, 68512530: 68512530
38 PRKAR1A NM_002734.4(PRKAR1A): c.-25C> T single nucleotide variant Likely benign rs546338099 GRCh37 Chromosome 17, 66508671: 66508671
39 PRKAR1A NM_002734.4(PRKAR1A): c.678C> T (p.Ile226=) single nucleotide variant Benign/Likely benign rs200592054 GRCh38 Chromosome 17, 68525882: 68525882
40 PRKAR1A NM_002734.4(PRKAR1A): c.678C> T (p.Ile226=) single nucleotide variant Benign/Likely benign rs200592054 GRCh37 Chromosome 17, 66522023: 66522023
41 PRKAR1A NM_002734.4(PRKAR1A): c.*138C> A single nucleotide variant Likely benign rs28730842 GRCh38 Chromosome 17, 68530587: 68530587
42 PRKAR1A NM_002734.4(PRKAR1A): c.*138C> A single nucleotide variant Likely benign rs28730842 GRCh37 Chromosome 17, 66526728: 66526728
43 PRKAR1A NM_002734.4(PRKAR1A): c.*151A> G single nucleotide variant Likely benign rs11540571 GRCh38 Chromosome 17, 68530600: 68530600
44 PRKAR1A NM_002734.4(PRKAR1A): c.*151A> G single nucleotide variant Likely benign rs11540571 GRCh37 Chromosome 17, 66526741: 66526741
45 PRKAR1A NM_002734.4(PRKAR1A): c.*156C> T single nucleotide variant Likely benign rs535007635 GRCh38 Chromosome 17, 68530605: 68530605
46 PRKAR1A NM_002734.4(PRKAR1A): c.*156C> T single nucleotide variant Likely benign rs535007635 GRCh37 Chromosome 17, 66526746: 66526746
47 PRKAR1A NM_002734.4(PRKAR1A): c.*587delT deletion Uncertain significance rs398041821 GRCh38 Chromosome 17, 68531036: 68531036
48 PRKAR1A NM_002734.4(PRKAR1A): c.*587delT deletion Uncertain significance rs398041821 GRCh37 Chromosome 17, 66527177: 66527177
49 PRKAR1A NM_002734.4(PRKAR1A): c.*847A> G single nucleotide variant Likely benign rs144299673 GRCh38 Chromosome 17, 68531296: 68531296
50 PRKAR1A NM_002734.4(PRKAR1A): c.*847A> G single nucleotide variant Likely benign rs144299673 GRCh37 Chromosome 17, 66527437: 66527437
Sources

Expression for Carney Complex Variant

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Search GEO for disease gene expression data for Carney Complex Variant.
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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
Signaling by GPCR 67
Show member pathways
 14.14 CDKN1B GNAS MEN1 PDE11A PDE8B POMC
2
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 13.29 F10 GNAS PDE11A PRKACB PRKAR1A PRKAR1B
3
IL-2 Pathway 65
Show member pathways
 13.16 CDKN1B GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
4
G-Beta Gamma Signaling 65
Show member pathways
 13.06 GNAS POMC PRKACB PRKAR1A PRKAR1B PRKAR2B
5
Sweet Taste Signaling 65
Show member pathways
 13.04 GNAS MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2B
6
p70S6K Signaling 65
Show member pathways
 12.99 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
7
DAG and IP3 signaling 67
Show member pathways
 12.95 CDKN1B GNAS PDE8B POMC PRKACB PRKAR1A
8
Sertoli-Sertoli Cell Junction Dynamics 65
Show member pathways
 12.88 MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2B
9
Development Angiotensin activation of ERK 23
Show member pathways
 12.86 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
10
Regulation of lipid metabolism Insulin signaling-generic cascades 23
Show member pathways
 12.86 PRKACB PRKAR1A PRKAR1B PRKAR2B USP8
11
CCR5 Pathway in Macrophages 65
Show member pathways
 12.84 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
12
NFAT and Cardiac Hypertrophy 65
Show member pathways
 12.82 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
13
Beta-Adrenergic Signaling 65
Show member pathways
 12.77 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
14
G-AlphaQ Signaling 65
Show member pathways
 12.65 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
15
Neuropathic Pain-Signaling in Dorsal Horn Neurons 65
Show member pathways
 12.64 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
16
NF-KappaB Family Pathway 65
Show member pathways
 12.63 PRKACB PRKAR1A PRKAR1B PRKAR2B
17
Signaling by Hedgehog 67
Show member pathways
 12.57 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
18
TRAF Pathway 65
Show member pathways
 12.54 PRKACB PRKAR1A PRKAR1B PRKAR2B
19
Development Dopamine D2 receptor transactivation of EGFR 23
Show member pathways
 12.54 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
20
GABAergic synapse 38
Show member pathways
 12.51 GNAS PDE11A PDE8B PRKACB
21
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.51 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
22
ADP signalling through P2Y purinoceptor 12 67
Show member pathways
 12.47 GNAS POMC PRKACB PRKAR1A PRKAR1B PRKAR2B
23
DREAM Repression and Dynorphin Expression 65
Show member pathways
 12.45 PRKACB PRKAR1A PRKAR1B PRKAR2B
24
Aquaporin-mediated transport 67
Show member pathways
 12.41 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
25
G-protein signaling G-Protein alpha-i signaling cascades 23
Show member pathways
 12.36 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
26
Integration of energy metabolism 67
Show member pathways
 12.34 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
27
Dopamine-DARPP32 Feedback onto cAMP Pathway 65
12.33 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
28
Development A3 receptor signaling 23
Show member pathways
 12.31 PRKACB PRKAR1A PRKAR1B PRKAR2B
29
Development Ligand-independent activation of ESR1 and ESR2 23
Show member pathways
 12.29 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
30
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 12.19 GNAS MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2B
31
AMPK Enzyme Complex Pathway 65
Show member pathways
 12.18 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
32
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.16 PRKACB PRKAR1A PRKAR1B PRKAR2B
33
Regulation of CFTR activity (norm and CF) 23
Show member pathways
 12.15 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
34
Factors involved in megakaryocyte development and platelet production 67
12.14 PRKACB PRKAR1A PRKAR1B PRKAR2B
35
Colorectal Cancer Metastasis 65
12.14 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
36
Development EGFR signaling via small GTPases 23
Show member pathways
 12.12 GNAS PRKAR1A PRKAR1B PRKAR2B
37
G alpha (s) signalling events 67
12.1 GNAS PDE11A PDE8B POMC
38
Signal transduction_Erk Interactions- Inhibition of Erk 23
11.73 PRKACB PRKAR1A PRKAR1B PRKAR2B
39
G-protein signaling_RhoA regulation pathway 23
11.71 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
40
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 23
Show member pathways
 11.68 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
41
Signal transduction_PKA signaling 23
11.6 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
42
Development_Leptin signaling via PI3K-dependent pathway 23
11.53 PRKACB PRKAR1A PRKAR1B PRKAR2B
43
Netrin Signaling 65
11.47 PRKACB PRKAR1A PRKAR1B PRKAR2B
44
NgR-p75(NTR)-Mediated Signaling 65
11.42 PRKACB PRKAR1A PRKAR1B PRKAR2B
45
G-protein signaling_Cross-talk between Ras-family GTPases 23
11.38 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
46
miRs in Muscle Cell Differentiation 1
11.26 PRKACB PRKAR1A PRKAR1B PRKAR2B
47
14-3-3 and Regulation of BAD Activity 65
11.17 PRKACB PRKAR1A PRKAR1B PRKAR2B
48
Melanocyte Development and Pigmentation 65
11.17 POMC PRKACB PRKAR1A PRKAR1B PRKAR2B
49
DARPP-32 Phosphorylation 66
11.05 PRKACB PRKAR1B
50
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
10.94 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
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 AIP CDKN1B GNAS MEN1 MYH8 PDE11A
2 glutamatergic synapse GO:0098978 9.56 PRKAR1A PRKAR1B PRKAR2B USP8
3 ciliary base GO:0097546 9.26 PRKACB PRKAR1A PRKAR1B PRKAR2B
4 cAMP-dependent protein kinase complex GO:0005952 8.92 PRKACB PRKAR1A PRKAR1B PRKAR2B
5 cytoplasm GO:0005737 10.1 AIP CDKN1B GNAS MEN1 MYH8 PDE11A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.97 GNAS GPR101 PDE11A PDE8B POMC PRKACB
2 blood coagulation GO:0007596 9.72 F10 PRKACB PRKAR1A PRKAR1B PRKAR2B
3 regulation of protein phosphorylation GO:0001932 9.65 PRKAR1A PRKAR1B PRKAR2B
4 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.63 GNAS GPR101 PRKACB
5 regulation of protein kinase activity GO:0045859 9.58 PRKAR1A PRKAR1B PRKAR2B
6 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.54 CDKN1B MEN1
7 cGMP-mediated signaling GO:0019934 9.54 PRKAR1A PRKAR1B PRKAR2B
8 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.51 GNAS GPR101
9 activation of protein kinase A activity GO:0034199 9.46 PRKACB PRKAR1A PRKAR1B PRKAR2B
10 response to clozapine GO:0097338 9.43 PRKACB PRKAR2B
11 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.43 PRKAR1A PRKAR1B PRKAR2B
12 renal water homeostasis GO:0003091 9.35 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
13 cellular response to glucagon stimulus GO:0071377 9.02 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
14 signal transduction GO:0007165 10.07 GNAS GPR101 PDE11A PDE8B POMC PRKACB

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

# Name GO ID Score Top Affiliating Genes
1 cAMP binding GO:0030552 9.5 PRKAR1A PRKAR1B PRKAR2B
2 protein kinase A catalytic subunit binding GO:0034236 9.43 PRKAR1A PRKAR1B PRKAR2B
3 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 9.37 PDE11A PDE8B
4 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.33 PRKAR1A PRKAR1B PRKAR2B
5 cAMP-dependent protein kinase regulator activity GO:0008603 9.13 PRKAR1A PRKAR1B PRKAR2B
6 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.92 PDE11A PRKAR1A PRKAR1B PRKAR2B
Sources

Sources for Carney Complex Variant

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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