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MCID: CRN038
MIFTS: 61

Carney Complex Variant

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

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Carney Complex Variant

About this section
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 acth-independent macronodular adrenal hyperplasia and gigantism. 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 congestive heart failure and colon cancer

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

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.

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
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 74)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 31.6 GNAS PDE11A
2 gigantism 31.6 AIP GPR101
3 primary pigmented nodular adrenocortical disease 30.7 GNAS PDE11A PDE8B POMC PRKACB PRKAR1A
4 acromegaly 30.7 AIP GNAS GPR101 MEN1 POMC
5 thyroid cancer, nonmedullary, 2 30.5 MEN1 POMC SRGAP1
6 multiple endocrine neoplasia 30.3 CDKN1B MEN1 PRKAR1A
7 acrodysostosis 30.3 GNAS PRKAR1A
8 adenoma 30.1 AIP GNAS MEN1 POMC
9 pituitary tumors 29.4 AIP GNAS MEN1 POMC
10 conn's syndrome 29.4 GNAS MEN1 POMC PRKAR1A
11 multiple endocrine neoplasia, type i 29.2 CDKN1B CNC2 GNAS MEN1 PRKAR1A
12 carney complex, type 1 12.6
13 carney complex, type 2 12.2
14 neurilemmoma 11.3
15 pigmented nodular adrenocortical disease, primary, 1 11.1
16 thyroid cancer, nonmedullary, 1 10.9
17 carney triad 10.9
18 thyroid cancer, nonmedullary, 3 10.9
19 adrenal carcinoma 10.9
20 silent pituitary adenoma 10.7 AIP MEN1
21 null pituitary adenoma 10.7 AIP MEN1
22 pseudopseudohypoparathyroidism 10.5 GNAS PRKAR1A
23 growth hormone secreting pituitary adenoma 10.5 AIP GNAS PRKAR1A
24 melanocytic nevus syndrome, congenital 10.4 CNC2 PRKAR1A
25 familial isolated pituitary adenoma 10.4 AIP CDKN1B CNC2
26 pituitary apoplexy 10.3 AIP POMC
27 primary hyperparathyroidism 10.2 CDKN1B MEN1 PRKAR1A
28 hyperparathyroidism 10.2 CDKN1B MEN1 PRKAR1A
29 functioning pituitary adenoma 10.2 AIP MEN1 POMC
30 hormone producing pituitary cancer 10.2 AIP GNAS MEN1 PRKAR1A
31 adrenal cortex disease 10.2 PDE11A POMC PRKAR1A
32 hyperpituitarism 10.2 AIP POMC
33 endocrine organ benign neoplasm 10.2 AIP MEN1 POMC
34 organ system benign neoplasm 10.2 AIP MEN1 POMC
35 melanotic neurilemmoma 10.1
36 pituitary adenoma 10.1
37 multiple endocrine neoplasia, type iv 10.1 AIP CDKN1B MEN1 PRKAR1A
38 adrenocortical carcinoma, hereditary 10.1 GNAS POMC PRKAR1A
39 tièche-jadassohn nevus 10.1
40 peutz-jeghers syndrome 10.0
41 thyroiditis 10.0
42 albright's hereditary osteodystrophy 10.0 GNAS PRKAR1A
43 mccune-albright syndrome 10.0
44 sertoli cell tumor 10.0
45 cell type benign neoplasm 9.9 AIP GNAS MEN1 POMC
46 lentigines 9.9
47 type i 9.9
48 aneurysm 9.9
49 hepatocellular carcinoma 9.7
50 doyne honeycomb retinal dystrophy 9.7

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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Clinical features from OMIM:

608837

Human phenotypes related to Carney Complex Variant:

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

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 in esophageal squamous lineage GR00235-A 9.28 PRKAR1B SRGAP1 ASMTL CDKN1B GNAS MEN1
2 Decreased viability after gemcitabine stimulation GR00107-A-2 9.13 PRKACB PRKAR1A PRKAR2B

MGI Mouse Phenotypes related to Carney Complex Variant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 AIP CDKN1B F10 GNAS GPR101 MEN1
2 integument MP:0010771 9.7 AIP CDKN1B GNAS POMC PRKAR1A PRKAR1B
3 liver/biliary system MP:0005370 9.5 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
4 neoplasm MP:0002006 9.1 MEN1 POMC PRKAR1A AIP CDKN1B GNAS
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 29
2 Carney Complex Variant 29 MYH8
Sources

Anatomical Context for Carney Complex Variant

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MalaCards organs/tissues related to Carney Complex Variant:

41
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 212)
# Title Authors Year
1
Carney complex: a case with thyroid follicular adenoma without a PRKAR1A mutation. ( 29666959 )
2018
2
<i>PRKAR1A</i> mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. ( 28522647 )
2017
3
Corticotropinoma as a Component of Carney Complex. ( 29264542 )
2017
4
Fibrolamellar Carcinoma in the Carney Complex: PRKAR1A Loss Instead of the Classic DNAJB1-PRKACA Fusion. ( 29222914 )
2017
5
An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report. ( 28276158 )
2017
6
Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures. ( 27377598 )
2016
7
Fourth Recurrence of Cardiac Myxoma in a Patient with the Carney Complex. ( 27066435 )
2016
8
Association of Carney Complex with an Intronic Splice Site Mutation in the PRKAR1A Gene. ( 26788925 )
2016
9
A case of Carney complex presenting as acute testicular pain. ( 27453662 )
2016
10
Carney complex: one more entity with skin and bone manifestations. ( 25590407 )
2015
11
Psammomatous melanotic schwannoma as a component of Carney complex. ( 26275268 )
2015
12
Isolated Large Cell Calcifying Sertoli Cell Tumor in a Young Boy, not Associated with Peutz-Jeghers Syndrome or Carney Complex. ( 26587565 )
2015
13
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family. ( 26416542 )
2015
14
Successful pregnancy and delivery in a patient with Carney complex: implications for anesthesiologists. ( 25612273 )
2015
15
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex. ( 26405036 )
2015
16
Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG. ( 25890363 )
2015
17
Defects of the Carney complex gene (PRKAR1A) in odontogenic tumors. ( 25870248 )
2015
18
A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex. ( 26354069 )
2015
19
Carney complex: an update. ( 26130139 )
2015
20
Biatrial Myxomas With Various Manifestationsa88- Carney Complex. ( 25833082 )
2015
21
MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics. ( 25592387 )
2015
22
Sporadic Carney Complex without PRKAR1A Mutation in a Young Patient with Ischemic Stroke. ( 25576349 )
2015
23
Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma. ( 25336503 )
2014
24
Mitotane and Carney Complex: ten years follow-up of a low-dose mitotane regimen inducing a sustained correction of hypercortisolism. ( 25402388 )
2014
25
PKA RII+ Homodimer Structure Reveals an Intermolecular Interface with Implications for Cooperative cAMP Binding and Carney Complex Disease. ( 24316401 )
2014
26
Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing. ( 24170103 )
2014
27
Carney complex presenting with a unilateral adrenocortical nodule: a case report. ( 24499519 )
2014
28
Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion. ( 24144965 )
2014
29
Tumorectomy with right thoracotomy for synchronous left atrial myxomas from Carney complex: report of a case. ( 23052755 )
2014
30
Recurrence of Carney complex atrial myxoma causing embolic stroke. ( 24621290 )
2014
31
Cutaneous myxoma: an important clue to Carney complex. ( 25118746 )
2014
32
Carney complex: fourth time excision of recurrent atrial myxoma via left thoracotomy. ( 24789151 )
2014
33
Knockdown of PRKAR1A, the gene responsible for Carney complex, interferes with differentiation in osteoblastic cells. ( 24506536 )
2014
34
Recurrent right ventricular cardiac myxoma in a patient with Carney complex: a case report. ( 24886234 )
2014
35
Pigmented epithelioid melanocytoma on the glans penis not associated with Carney complex. ( 24612297 )
2014
36
Carney complex: a rare cause of Cushing syndrome in pregnancy. ( 25004313 )
2014
37
PRKACB and Carney complex. ( 24571725 )
2014
38
Hepato-pancreato-biliary lesions are present in both Carney complex and McCune Albright syndrome: comments on P. Salpea and C. Stratakis. ( 24161590 )
2014
39
The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation. ( 23315333 )
2013
40
Epithelioid and fusiform blue nevus of chronically sun-damaged skin, an entity distinct from the epithelioid blue nevus of the Carney complex. ( 22892599 )
2013
41
Carney Complex with Right Ventricular Myxoma following Second Excision of Left Atrial Myxoma. ( 23995348 )
2013
42
A complicated case of Carney complex: fifth reoperative cardiac surgery for resection of recurrent cardiac myxoma. ( 23866852 )
2013
43
Carney complex. ( 23652670 )
2013
44
Carney Complex with Biatrial Cardiac Myxoma. ( 24088910 )
2013
45
Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters. ( 24122441 )
2013
46
Pituitary adenoma with mucin cells in a man with an unusual presentation of Carney complex. ( 23640426 )
2013
47
Obstructive right atrial myxoma in association with Carney complex. ( 23266189 )
2013
48
Carney complex and McCune Albright syndrome: An overview of clinical manifestations and human molecular genetics. ( 24012779 )
2013
49
Novel Mutation in PRKAR1A in Carney Complex. ( 23323113 )
2012
50
A novel PRKAR1A mutation in Korean Carney complex family. ( 22020668 )
2012
Sources

Variations for Carney Complex Variant

About this section

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
(show top 50) (show all 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh37 Chromosome 17, 66523974: 66523979
2 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh38 Chromosome 17, 68527833: 68527838
3 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh37 Chromosome 17, 10310241: 10310241
4 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh38 Chromosome 17, 10406924: 10406924
5 PRKAR1A NM_002734.4(PRKAR1A): c.623delG (p.Gly208Glufs) deletion Pathogenic rs727503379 GRCh37 Chromosome 17, 66521968: 66521968
6 PRKAR1A NM_002734.4(PRKAR1A): c.623delG (p.Gly208Glufs) deletion Pathogenic rs727503379 GRCh38 Chromosome 17, 68525827: 68525827
7 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh37 Chromosome 17, 10302192: 10302192
8 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh38 Chromosome 17, 10398875: 10398875
9 PRKAR1A NM_002734.4(PRKAR1A): c.221G> A (p.Arg74His) single nucleotide variant Conflicting interpretations of pathogenicity rs200069356 GRCh37 Chromosome 17, 66518940: 66518940
10 PRKAR1A NM_002734.4(PRKAR1A): c.221G> A (p.Arg74His) single nucleotide variant Conflicting interpretations of pathogenicity rs200069356 GRCh38 Chromosome 17, 68522799: 68522799
11 PRKAR1A NM_002734.4(PRKAR1A): c.546G> A (p.Thr182=) single nucleotide variant Likely benign rs117639566 GRCh37 Chromosome 17, 66521096: 66521096
12 PRKAR1A NM_002734.4(PRKAR1A): c.546G> A (p.Thr182=) single nucleotide variant Likely benign rs117639566 GRCh38 Chromosome 17, 68524955: 68524955
13 PRKAR1A NM_002734.4(PRKAR1A): c.-6-7C> T single nucleotide variant Uncertain significance rs373646911 GRCh38 Chromosome 17, 68515387: 68515387
14 PRKAR1A NM_002734.4(PRKAR1A): c.-6-7C> T single nucleotide variant Uncertain significance rs373646911 GRCh37 Chromosome 17, 66511528: 66511528
15 PRKAR1A NM_002734.4(PRKAR1A): c.*526G> A single nucleotide variant Uncertain significance rs886053308 GRCh38 Chromosome 17, 68530975: 68530975
16 PRKAR1A NM_002734.4(PRKAR1A): c.*526G> A single nucleotide variant Uncertain significance rs886053308 GRCh37 Chromosome 17, 66527116: 66527116
17 PRKAR1A NM_002734.4(PRKAR1A): c.*724T> A single nucleotide variant Uncertain significance rs746409603 GRCh38 Chromosome 17, 68531173: 68531173
18 PRKAR1A NM_002734.4(PRKAR1A): c.*724T> A single nucleotide variant Uncertain significance rs746409603 GRCh37 Chromosome 17, 66527314: 66527314
19 PRKAR1A NM_002734.4(PRKAR1A): c.*759C> T single nucleotide variant Likely benign rs62087489 GRCh38 Chromosome 17, 68531208: 68531208
20 PRKAR1A NM_002734.4(PRKAR1A): c.*759C> T single nucleotide variant Likely benign rs62087489 GRCh37 Chromosome 17, 66527349: 66527349
21 PRKAR1A NM_002734.4(PRKAR1A): c.*795G> T single nucleotide variant Likely benign rs150031305 GRCh38 Chromosome 17, 68531244: 68531244
22 PRKAR1A NM_002734.4(PRKAR1A): c.*795G> T single nucleotide variant Likely benign rs150031305 GRCh37 Chromosome 17, 66527385: 66527385
23 PRKAR1A NM_002734.4(PRKAR1A): c.*1842A> T single nucleotide variant Uncertain significance rs886053317 GRCh37 Chromosome 17, 66528432: 66528432
24 PRKAR1A NM_002734.4(PRKAR1A): c.*1842A> T single nucleotide variant Uncertain significance rs886053317 GRCh38 Chromosome 17, 68532291: 68532291
25 PRKAR1A NM_002734.4(PRKAR1A): c.*2072G> A single nucleotide variant Uncertain significance rs886053319 GRCh38 Chromosome 17, 68532521: 68532521
26 PRKAR1A NM_002734.4(PRKAR1A): c.*2072G> A single nucleotide variant Uncertain significance rs886053319 GRCh37 Chromosome 17, 66528662: 66528662
27 PRKAR1A NM_002734.4(PRKAR1A): c.-75G> T single nucleotide variant Likely benign rs559757120 GRCh38 Chromosome 17, 68512480: 68512480
28 PRKAR1A NM_002734.4(PRKAR1A): c.-75G> T single nucleotide variant Likely benign rs559757120 GRCh37 Chromosome 17, 66508621: 66508621
29 PRKAR1A NM_002734.4(PRKAR1A): c.-25C> T single nucleotide variant Likely benign rs546338099 GRCh38 Chromosome 17, 68512530: 68512530
30 PRKAR1A NM_002734.4(PRKAR1A): c.-25C> T single nucleotide variant Likely benign rs546338099 GRCh37 Chromosome 17, 66508671: 66508671
31 PRKAR1A NM_002734.4(PRKAR1A): c.678C> T (p.Ile226=) single nucleotide variant Benign/Likely benign rs200592054 GRCh38 Chromosome 17, 68525882: 68525882
32 PRKAR1A NM_002734.4(PRKAR1A): c.678C> T (p.Ile226=) single nucleotide variant Benign/Likely benign rs200592054 GRCh37 Chromosome 17, 66522023: 66522023
33 PRKAR1A NM_002734.4(PRKAR1A): c.*138C> A single nucleotide variant Likely benign rs28730842 GRCh38 Chromosome 17, 68530587: 68530587
34 PRKAR1A NM_002734.4(PRKAR1A): c.*138C> A single nucleotide variant Likely benign rs28730842 GRCh37 Chromosome 17, 66526728: 66526728
35 PRKAR1A NM_002734.4(PRKAR1A): c.*151A> G single nucleotide variant Likely benign rs11540571 GRCh38 Chromosome 17, 68530600: 68530600
36 PRKAR1A NM_002734.4(PRKAR1A): c.*151A> G single nucleotide variant Likely benign rs11540571 GRCh37 Chromosome 17, 66526741: 66526741
37 PRKAR1A NM_002734.4(PRKAR1A): c.*156C> T single nucleotide variant Likely benign rs535007635 GRCh38 Chromosome 17, 68530605: 68530605
38 PRKAR1A NM_002734.4(PRKAR1A): c.*156C> T single nucleotide variant Likely benign rs535007635 GRCh37 Chromosome 17, 66526746: 66526746
39 PRKAR1A NM_002734.4(PRKAR1A): c.*587delT deletion Uncertain significance rs886053309 GRCh38 Chromosome 17, 68531036: 68531036
40 PRKAR1A NM_002734.4(PRKAR1A): c.*587delT deletion Uncertain significance rs886053309 GRCh37 Chromosome 17, 66527177: 66527177
41 PRKAR1A NM_002734.4(PRKAR1A): c.*847A> G single nucleotide variant Likely benign rs144299673 GRCh38 Chromosome 17, 68531296: 68531296
42 PRKAR1A NM_002734.4(PRKAR1A): c.*847A> G single nucleotide variant Likely benign rs144299673 GRCh37 Chromosome 17, 66527437: 66527437
43 PRKAR1A NM_002734.4(PRKAR1A): c.*870G> A single nucleotide variant Benign rs8082254 GRCh38 Chromosome 17, 68531319: 68531319
44 PRKAR1A NM_002734.4(PRKAR1A): c.*870G> A single nucleotide variant Benign rs8082254 GRCh37 Chromosome 17, 66527460: 66527460
45 PRKAR1A NM_002734.4(PRKAR1A): c.*1118dupT duplication Uncertain significance rs886053312 GRCh38 Chromosome 17, 68531567: 68531567
46 PRKAR1A NM_002734.4(PRKAR1A): c.*1118dupT duplication Uncertain significance rs886053312 GRCh37 Chromosome 17, 66527708: 66527708
47 PRKAR1A NM_002734.4(PRKAR1A): c.*1168A> T single nucleotide variant Uncertain significance rs886053313 GRCh38 Chromosome 17, 68531617: 68531617
48 PRKAR1A NM_002734.4(PRKAR1A): c.*1168A> T single nucleotide variant Uncertain significance rs886053313 GRCh37 Chromosome 17, 66527758: 66527758
49 PRKAR1A NM_002734.4(PRKAR1A): c.*1244T> C single nucleotide variant Benign rs9925 GRCh38 Chromosome 17, 68531693: 68531693
50 PRKAR1A NM_002734.4(PRKAR1A): c.*1244T> C single nucleotide variant Benign rs9925 GRCh37 Chromosome 17, 66527834: 66527834
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 all 50)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 66
Show member pathways
 14.13 CDKN1B GNAS MEN1 PDE11A PDE8B POMC
2
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.29 F10 GNAS PDE11A PRKACB PRKAR1A PRKAR1B
3
Sweet Taste Signaling 64
Show member pathways
 13.03 GNAS MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2B
4
G-Beta Gamma Signaling 64
Show member pathways
 13.01 GNAS POMC PRKACB PRKAR1A PRKAR1B PRKAR2B
5
DAG and IP3 signaling 66
Show member pathways
 12.99 CDKN1B GNAS PDE8B POMC PRKACB PRKAR1A
6
p70S6K Signaling 64
Show member pathways
 12.98 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
7
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.88 MYH8 PRKACB PRKAR1A PRKAR1B PRKAR2B
8
Aldosterone synthesis and secretion 37
Show member pathways
 12.87 AIP CDKN1B GNAS MEN1 PDE11A PDE8B
9
Development Angiotensin activation of ERK 22
Show member pathways
 12.86 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
10
CCR5 Pathway in Macrophages 64
Show member pathways
 12.84 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
11
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.82 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
12
Beta-Adrenergic Signaling 64
Show member pathways
 12.77 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
13
IL-2 Pathway 64
Show member pathways
 12.76 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
14
G-AlphaQ Signaling 64
Show member pathways
 12.64 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
15
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.64 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
16
NF-KappaB Family Pathway 64
Show member pathways
 12.63 PRKACB PRKAR1A PRKAR1B PRKAR2B
17
Signaling by Hedgehog 66
Show member pathways
 12.57 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
18
Development Dopamine D2 receptor transactivation of EGFR 22
Show member pathways
 12.54 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
19
GABAergic synapse 37
Show member pathways
 12.51 GNAS PDE11A PDE8B PRKACB
20
ADP signalling through P2Y purinoceptor 12 66
Show member pathways
 12.51 GNAS POMC PRKACB PRKAR1A PRKAR1B PRKAR2B
21
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.5 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
22
TRAF Pathway 64
Show member pathways
 12.49 PRKACB PRKAR1A PRKAR1B PRKAR2B
23
BMP Pathway 64
Show member pathways
 12.45 PRKACB PRKAR1A PRKAR1B PRKAR2B
24
Aquaporin-mediated transport 66
Show member pathways
 12.42 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
25
Delta508-CFTR traffic / ER-to-Golgi in CF 22
Show member pathways
 12.41 PRKACB PRKAR1A PRKAR1B PRKAR2B
26
G-protein signaling G-Protein alpha-i signaling cascades 22
Show member pathways
 12.37 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
27
Integration of energy metabolism 66
Show member pathways
 12.36 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
28
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
12.35 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
29
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.31 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
30
Development A3 receptor signaling 22
Show member pathways
 12.3 PRKACB PRKAR1A PRKAR1B PRKAR2B
31
AMPK Enzyme Complex Pathway 64
Show member pathways
 12.2 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
32
Regulation of CFTR activity (norm and CF) 22
Show member pathways
 12.18 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
33
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.16 PRKACB PRKAR1A PRKAR1B PRKAR2B
34
Colorectal Cancer Metastasis 64
12.16 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
35
Factors involved in megakaryocyte development and platelet production 66
12.14 PRKACB PRKAR1A PRKAR1B PRKAR2B
36
Development EGFR signaling via small GTPases 22
Show member pathways
 12.12 GNAS PRKAR1A PRKAR1B PRKAR2B
37
G alpha (s) signalling events 66
12.09 GNAS PDE11A PDE8B POMC
38
Development A2A receptor signaling 22
Show member pathways
 11.95 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
39
Signal transduction_Erk Interactions- Inhibition of Erk 22
11.75 PRKACB PRKAR1A PRKAR1B PRKAR2B
40
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 22
Show member pathways
 11.68 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
41
Signal transduction_PKA signaling 22
11.6 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
42
Development_Leptin signaling via PI3K-dependent pathway 22
11.54 PRKACB PRKAR1A PRKAR1B PRKAR2B
43
Netrin Signaling 64
11.5 PRKACB PRKAR1A PRKAR1B PRKAR2B
44
NgR-p75(NTR)-Mediated Signaling 64
11.46 PRKACB PRKAR1A PRKAR1B PRKAR2B
45
miRs in Muscle Cell Differentiation 1
11.29 PRKACB PRKAR1A PRKAR1B PRKAR2B
46
14-3-3 and Regulation of BAD Activity 64
11.17 PRKACB PRKAR1A PRKAR1B PRKAR2B
47
Melanocyte Development and Pigmentation 64
11.17 POMC PRKACB PRKAR1A PRKAR1B PRKAR2B
48
DARPP-32 Phosphorylation 65
11.04 PRKACB PRKAR1B
49
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.94 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
50
Transcription_CREM signaling in testis 22
10.38 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 ASMTL CDKN1B GNAS MEN1 MYH8
2 ciliary base GO:0097546 9.26 PRKACB PRKAR1A PRKAR1B PRKAR2B
3 cAMP-dependent protein kinase complex GO:0005952 8.92 PRKACB PRKAR1A PRKAR1B PRKAR2B

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.72 F10 PRKACB PRKAR1A PRKAR1B PRKAR2B
2 adenylate cyclase-modulating G-protein coupled receptor signaling pathway GO:0007188 9.63 GNAS GPR101 PRKACB
3 regulation of protein phosphorylation GO:0001932 9.61 PRKAR1A PRKAR1B PRKAR2B
4 regulation of protein kinase activity GO:0045859 9.58 PRKAR1A PRKAR1B PRKAR2B
5 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.49 CDKN1B MEN1
6 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.48 GNAS GPR101
7 activation of protein kinase A activity GO:0034199 9.46 PRKACB PRKAR1A PRKAR1B PRKAR2B
8 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.43 PRKAR1A PRKAR1B PRKAR2B
9 response to clozapine GO:0097338 9.37 PRKACB PRKAR2B
10 cellular response to glucagon stimulus GO:0071377 9.35 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B
11 renal water homeostasis GO:0003091 9.02 GNAS PRKACB PRKAR1A PRKAR1B PRKAR2B

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 9.43 PRKAR1A PRKAR1B PRKAR2B
2 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.37 PDE11A PDE8B
3 protein kinase A catalytic subunit binding GO:0034236 9.33 PRKAR1A PRKAR1B PRKAR2B
4 3,5-cyclic-AMP phosphodiesterase activity GO:0004115 9.32 PDE11A PDE8B
5 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.13 PRKAR1A PRKAR1B PRKAR2B
6 cAMP-dependent protein kinase regulator activity GO:0008603 8.8 PRKAR1A PRKAR1B PRKAR2B
Sources

Sources for Carney Complex Variant

About this section
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
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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