Carney Complex Variant malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Carney Complex Variant

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Carney Complex Variant, Aliases & Descriptions:

Name: Carney Complex Variant 45 10
Carney Complex 9 19 41 20 21 11 22 60
Carney Syndrome 9 19 41 21
Cancer-Associated Retinopathy 41 47 60
Paraneoplastic Retinopathy 41 47 60
Carney Complex, Type Ii 10 22
Carney Complex, Type 1 9 60
Name Syndrome 9 41
Lamb Syndrome 9 41
Car Syndrome 41 47
Car 41 3
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 21
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 21
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 41
Myxoma - Spotty Pigmentation - Endocrine Overactivity 41
Myxoma-Spotty Pigmentation-Endocrine Overactivity 41
Carney Myxoma-Endocrine Complex 41
Carney Complex, Type 2 9
Cnc1 41


Characteristics (Orphanet epidemiological data):

cancer-associated retinopathy:
Inheritance: Not applicable; Age of onset: Adult

External Ids:

OMIM45 608837
Disease Ontology9 DOID:0050471
NCIt38 C4705
MeSH33 D056733
Orphanet47 71505
UMLS via Orphanet61 C0730307
ICD1025 Z50.9

Summaries for Carney Complex Variant

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NIH Rare Diseases:41 Carney complex is a hereditary cancer syndrome characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, and endocrine gland tumors. some families with this condition have been found to have mutations in the prkar1a gene. carney syndrome is believed to be inherited in an autosomal dominant manner, which means that an affected parent has a 50% chance of passing on the affected gene to each of his/her children. last updated: 3/22/2010

MalaCards based summary: Carney Complex Variant, also known as carney complex, is related to carney complex, type 1 and adenoma, and has symptoms including autosomal dominant inheritance, trismus and distal arthrogryposis. An important gene associated with Carney Complex Variant is MYH8 (myosin, heavy chain 8, skeletal muscle, perinatal), and among its related pathways are ERK Signaling and PAK Pathway. Affiliated tissues include skin, heart and eye.

Disease Ontology:9 An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.

Genetics Home Reference:21 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.


Description from OMIM:45 608837

GeneReviews summary for carney

Related Diseases for Carney Complex Variant

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Diseases in the Carney Complex Variant family:

Carney Complex, Type 1

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1carney complex, type 110.6
3primary pigmented nodular adrenocortical disease10.6
4lung cancer10.5
5pituitary adenoma10.5
6peutz-jeghers syndrome10.3
8multiple endocrine neoplasia10.3
10endometrial cancer10.2
11neuroendocrine carcinoma10.2
12small cell carcinoma10.2
15paraneoplastic syndromes10.2
17carney complex-trismus-pseudocamptodactyly syndrome10.2
19thyroid carcinoma, papillary10.1
20hepatocellular carcinoma10.1
21thyroid carcinoma, follicular10.1
22pigmented nodular adrenocortical disease, primary, 110.1
23acth-independent macronodular adrenal hyperplasia10.1
24pituitary adenoma, growth hormone-secreting10.1
25adrenal cortical carcinoma10.1
26male infertility10.1
28cowden disease10.1
29ectopic thymus10.1
33cushing's syndrome10.1
34sertoli cell tumor10.1
35adrenal adenoma10.1
37intracranial aneurysm10.1
41thyroid cancer10.1
43cerebral aneurysms10.1
44pituitary tumors10.1
46benign schwannoma10.1
47langerhans-cell histiocytosis10.1
48large cell neuroendocrine carcinoma10.1
49retinal vasculitis10.1

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

Diseases related to carney complex variant

Symptoms for Carney Complex Variant

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Clinical features from OMIM:


HPO human phenotypes related to Carney Complex Variant:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 trismus HP:0000211
3 distal arthrogryposis HP:0005684
4 cardiac myxoma HP:0011672

Drugs & Therapeutics for Carney Complex Variant

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Drug clinical trials:

Search ClinicalTrials for Carney Complex Variant

Search NIH Clinical Center for Carney Complex Variant

Genetic Tests for Carney Complex Variant

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Genetic tests related to Carney Complex Variant:

id Genetic test Affiliating Genes
1 Carney Complex20 22 PRKAR1A
2 Carney Complex Variant22
3 Carney Complex, Type 222

Anatomical Context for Carney Complex Variant

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MalaCards organs/tissues related to Carney Complex Variant:

Skin, Heart, Eye

Animal Models for Carney Complex Variant or affiliated genes

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Publications for Carney Complex Variant

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Articles related to Carney Complex Variant:

Mutation of perinatal myosin heavy chain associated with a Carney complex variant. (15282353)

Variations for Carney Complex Variant

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Carney Complex Variant:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1PRKAR1ANM_002734.4(PRKAR1A): c.491_492delTG (p.Val164Aspfs)deletionPathogenicrs281864790GRCh37Chr 17, 66520207: 66520208
2PRKAR1ANM_002734.4(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer)indelPathogenicrs281864785GRCh37Chr 17, 66525027: 66525028
3PRKAR1ANM_002734.4(PRKAR1A): c.891+3A> Gsingle nucleotide variantPathogenicrs281864799GRCh37Chr 17, 66525135: 66525135
4PRKAR1ANM_002734.4(PRKAR1A): c.708+1G> Tsingle nucleotide variantPathogenicrs281864798GRCh37Chr 17, 66522054: 66522054
5PRKAR1ANM_002734.4(PRKAR1A): c.220C> T (p.Arg74Cys)single nucleotide variantPathogenicrs137853303GRCh37Chr 17, 66518939: 66518939
6PRKAR1ANM_002734.4: c.709-7_709-2delTTTTTAdeletionPathogenicrs281864801GRCh37Chr 17, 66523974: 66523979
7MYH8NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln)single nucleotide variantPathogenicrs121434590GRCh37Chr 17, 10310241: 10310241
8PRKAR1ANM_002734.4(PRKAR1A): c.101_105delCTATT (p.Ser34Cysfs)deletionPathogenicrs281864788GRCh37Chr 17, 66511641: 66511645
9PRKAR1ANM_002734.4(PRKAR1A): c.109C> T (p.Gln37Ter)single nucleotide variantPathogenicrs281864781GRCh37Chr 17, 66511649: 66511649
10PRKAR1ANM_002734.4(PRKAR1A): c.124C> T (p.Arg42Ter)single nucleotide variantPathogenicrs281864782GRCh37Chr 17, 66511664: 66511664
11PRKAR1ANM_002734.4(PRKAR1A): c.139delA (p.Met47Trpfs)deletionPathogenicrs281864789GRCh37Chr 17, 66511679: 66511679
12PRKAR1ANM_002734.4(PRKAR1A): c.178-2A> Gsingle nucleotide variantPathogenicrs281864796GRCh37Chr 17, 66518895: 66518895
13PRKAR1ANM_002734.4(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del)deletionPathogenicGRCh37Chr 17, 66518897: 66519067
14PRKAR1ANM_002734.4(PRKAR1A): c.286C> T (p.Arg96Ter)single nucleotide variantPathogenicrs281864783GRCh37Chr 17, 66519005: 66519005
15PRKAR1ANM_002734.4(PRKAR1A): c.348+1G> Csingle nucleotide variantPathogenicrs281864797GRCh37Chr 17, 66519068: 66519068
16PRKAR1ANM_002734.4: c.550-9_550-2delGCACTTTAdeletionPathogenicrs281864800GRCh37Chr 17, 66521886: 66521893
17PRKAR1ANM_002734.4(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs)indelPathogenicrs281864792GRCh37Chr 17, 66521911: 66521912
18PRKAR1ANM_002734.4(PRKAR1A): c.638C> A (p.Ala213Asp)single nucleotide variantPathogenicrs281864786GRCh37Chr 17, 66521983: 66521983
19PRKAR1ANM_002734.4(PRKAR1A): c.682C> T (p.Arg228Ter)single nucleotide variantPathogenicrs281864784GRCh37Chr 17, 66522027: 66522027
20PRKAR1ANM_002734.4(PRKAR1A): c.693dupT (p.Arg232Terfs)duplicationPathogenicrs281864793GRCh37Chr 17, 66522038: 66522039
21PRKAR1ANM_002734.4(PRKAR1A): c.712_713insAA (p.Ser238Lysfs)insertionPathogenicrs281864794GRCh37Chr 17, 66523984: 66523985
22PRKAR1ANM_002734.4(PRKAR1A): c.82C> T (p.Gln28Ter)single nucleotide variantPathogenicrs281864780GRCh37Chr 17, 66511622: 66511622
23PRKAR1ANM_002734.4(PRKAR1A): c.846_847insA (p.Val283Serfs)insertionPathogenicrs281864795GRCh37Chr 17, 66525087: 66525088
24PRKAR1ANM_002734.4(PRKAR1A): c.85_95delGCGCTGCTCAA (p.Ala29Argfs)deletionPathogenicrs281864787GRCh37Chr 17, 66511625: 66511635

Expression for genes affiliated with Carney Complex Variant

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

Pathways for genes affiliated with Carney Complex Variant

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Compounds for genes affiliated with Carney Complex Variant

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GO Terms for genes affiliated with Carney Complex Variant

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058299.1PRKAR1A, MYH8

Products for genes affiliated with Carney Complex Variant

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Sources for Carney Complex Variant

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26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet