CAR
MCID: CRN008
MIFTS: 66

Carney Complex (CAR) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Endocrine diseases, Cancer diseases, Bone diseases, Fetal diseases categories

Summaries for Carney Complex

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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: Carney Complex, also known as carney complex, type 1, is related to adenoma and pituitary adenoma, and has symptoms including hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies, abnormal pigmentation of the oral mucosa/gingivae and skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma). An important gene associated with Carney Complex is PRKAR1A (protein kinase, cAMP-dependent, regulatory, type I, alpha), and among its related pathways are AMPK Enzyme Complex Pathway and Integration of energy metabolism. The compounds l-amino acid and magnesium have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and pituitary, and related mouse phenotypes are tumorigenesis and cardiovascular system.

Genetics Home Reference:22 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.

Wikipedia:66 Carney complex and its subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions... more...

Description from OMIM:48 160980,605244

GeneReviews summary for carney

Aliases & Classifications for Carney Complex

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Sources:
9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 50Orphanet, 63UMLS, 10diseasecard, 48OMIM, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
carney complex:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

carney complex 9 20 44 21 23 22 11 50 63
carney complex, type 1 9 10 23 48 63
carney syndrome 9 20 44 22 50
carney complex, type ii 10 23 48
lamb syndrome 9 44
name syndrome 9 44
lamb - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome 22
name - nevi, atrial myxoma, skin myxoma, ephelides syndrome 22
myxoma, spotty pigmentation, and endocrine overactivity 44
myxoma - spotty pigmentation - endocrine overactivity 50
myxoma-spotty pigmentation-endocrine overactivity 44
carney myxoma-endocrine complex 44
carney complex, type 2 9
familial myxoma 20
cnc1 44
car 44


External Ids:

Disease Ontology9 DOID:0050471
MeSH36 D056733
MESH via Orphanet37 D056733
ICD10 via Orphanet27 D44.8
SNOMED-CT via Orphanet60 239132009
UMLS via Orphanet64 C0406810, C2607929

Related Diseases for Carney Complex

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Carney Complex family:

Carney Complex Variant

Diseases related to Carney Complex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.6CNC2, SYP, MEN1, PRKAR1A, AIP, STK11
2pituitary adenoma30.5AIP, SYP, MEN1, PRKAR1A, CNC2
3peutz-jeghers syndrome30.5PRKAR1A, STK11, CNC2
4multiple endocrine neoplasia30.4PRKAR1A, CNC2, MEN1
5cowden disease30.2CNC2, STK11
6adrenal adenoma30.1MEN1, PRKAR1A, SYP
7cushing's syndrome30.0PRKAR1A, CNC2, SYP, MEN1
8acromegaly30.0AIP, PRKAR1A, CNC2, MEN1
9pituitary tumors30.0AIP, MEN1, CNC2, PRKAR1A
10primary pigmented nodular adrenocortical disease10.5
11carney complex variant10.5
12mccune albright syndrome10.3
13thyroiditis10.3
14aneurysm10.2
15chondrodysplasia10.1
16intracranial aneurysm10.1
17growth hormone secreting pituitary adenoma10.1
18ectopic thymus10.1
19myxosarcoma10.1
20infertility10.1
21cerebritis10.1
22sertoli cell tumor10.1
23von hippel-lindau disease10.1
24hepatocellular carcinoma10.1
25hyperthyroidism10.1
26male infertility10.1
27melanoma10.1
28pancreatitis10.1
29papillary thyroid carcinoma10.1
30retinitis10.1
31thyroid cancer10.1
32acth-independent macronodular adrenal hyperplasia10.1
33doyne honeycomb retinal dystrophy10.1
34gigantism10.1
35cerebral aneurysms10.1
36thyroid carcinoma, follicular, somatic10.1
37pigmented nodular adrenocortical disease, primary, 110.1
38teratoma10.1
39benign schwannoma10.1
40lipomatosis10.1MEN1
41adrenal gland hyperfunction10.1PRKAR1A, CNC2
42thyroid adenoma10.1CNC2, PRKAR1A
43neurilemmoma10.0PRKAR1A, CNC2
44atrial myxoma, familial10.0
45paragangliomas 1, with or without deafness10.0
46parathyroid adenoma10.0PRKAR1A, MEN1
47secondary hyperparathyroidism of renal origin10.0MEN1, PRKAR1A
48primary hyperparathyroidism10.0PRKAR1A, MEN1
49tuberous sclerosis10.0STK11, SYP
50hyperparathyroidism10.0MEN1, PRKAR1A

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



Diseases related to carney complex

Symptoms for Carney Complex

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

160980

Clinical features from OMIM:

160980,605244

Symptoms:

50 (show all 55)
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • abnormal pigmentation of the oral mucosa/gingivae
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • adrenal neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • breast neoplasm/tumor/carcinoma/cancer
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • cortico-adrenal hyperplasia/hypersecretion
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • thyroid neoplasm/tumor/carcinoma/cancer
  • large hand
  • chronic arterial hypertension
  • endocrine tumor
  • acromegaly
  • heart/cardiac tumor
  • abnormal fat distribution/lipodystrophy
  • broad foot
  • mitral valve atresia/stenosis/narrowing
  • truncal obesity
  • cushingoid morphotype
  • skin tumors/lumps/epidermal cysts
  • round face
  • fever/chilling
  • asthenia/fatigue/weakness
  • psychic/behavioural troubles
  • insulin-independent/type 2 diabetes
  • coarse face
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • precocious puberty
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • pigmented naevi/naevus pigmentosus/lentigo
  • autosomal dominant inheritance
  • kyphosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • motor deficit/trouble
  • generalized obesity
  • articular/joint pain/arthralgia
  • hydrarthrosis/articular/joint effusion
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • tall stature/gigantism/growth acceleration
  • striae
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • transient cerebral ischemia/stroke
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • heart/cardiac failure
  • thin skin
  • hirsutism/hypertrichosis/increased body hair
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • anaemia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • osteoarthritis

Drugs & Therapeutics for Carney Complex

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Carney Complex

Drug clinical trials:

Search ClinicalTrials for Carney Complex

Search NIH Clinical Center for Carney Complex

Search CenterWatch for Carney Complex

Genetic Tests for Carney Complex

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21GeneTests, 23GTR
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Genetic tests related to Carney Complex:

id Genetic test Affiliating Genes
1 Carney Complex21 23 PRKAR1A
2 Carney Complex, Type 123
3 Carney Complex, Type 223

Anatomical Context for Carney Complex

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34MalaCards
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MalaCards organs/tissues related to Carney Complex:

34
Skin, Heart, Pituitary, Testes, Breast, Thyroid, Ovary, Eye, Hypothalamus, Adrenal gland, Thymus, Pancreas

Animal Models for Carney Complex or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Carney Complex:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.1AIP, PRKAR1A, STK11, MEN1
2MP:00053858.1MEN1, AIP, PRKAR1A, STK11
3MP:00053798.0MEN1, STK11, PRKAR1A, AIP
4MP:00053807.8MEN1, AIP, PRKAR1A, STK11

Publications for Carney Complex

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Sources:
53PubMed
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Articles related to Carney Complex:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
Tumorectomy with right thoracotomy for synchronous left atrial myxomas from Carney complex: report of a case. (23052755)
2014
2
PKA RII+ Homodimer Structure Reveals an Intermolecular Interface with Implications for Cooperative cAMP Binding and Carney Complex Disease. (24316401)
2014
3
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
4
Obstructive right atrial myxoma in association with Carney complex. (23266189)
2013
5
Myxoma of the ear lobe in a 23-month-old girl with Carney complex. (21880053)
2012
6
An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other. (22785148)
2012
7
Epithelioid blue nevus not associated with Carney complex in a Korean patient. (22772645)
2012
8
Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented. (22341669)
2012
9
Thyroid-specific ablation of the Carney complex gene, PRKAR1A, results in hyperthyroidism and follicular thyroid cancer. (22514108)
2012
10
Utility of genetic testing in multisite myxoma to rule out Carney complex. (21429888)
2011
11
Anesthetic experiences of myxoma removal surgery in two patients with Carney complex -A report of two cases-. (22220234)
2011
12
Recurrent atrial myxoma: resection for Carney complex through a minimally invasive approach. (20487111)
2010
13
Carney complex: a case report. (19438156)
2009
14
Carney complex and lentiginosis. (19650827)
2009
15
8-Cl-adenosine inhibits proliferation and causes apoptosis in B-lymphocytes via protein kinase A-dependent and independent effects: implications for treatment of Carney complex-associated tumors. (19773399)
2009
16
Evidence that PKA activity is constitutively activated in human GH-secreting adenoma cells in a patient with Carney complex harbouring a PRKAR1A mutation. (19178533)
2009
17
Carney complex: a clinicopathologic and molecular biological study of a sporadic case, including extracutaneous and cutaneous lesions and a novel mutation of the PRKAR1A gene. (19539840)
2009
18
A deletion in the PRKAR1A gene is associated with Carney complex. (18780607)
2008
19
Large deletions of the PRKAR1A gene in Carney complex. (18223213)
2008
20
Possible association between Carney complex and multiple endocrine neoplasia type 1 phenotypes. (19169494)
2008
21
A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'. (18848651)
2008
22
Intrathoracic psammomatous melanotic schwannoma associated with the Carney complex. (18640357)
2008
23
Carney complex: the first 20 years. (17133108)
2007
24
Carney complex. (16798242)
2006
25
Carney complex (CNC). (16756677)
2006
26
Carney complex: pathology and molecular genetics. (17047382)
2006
27
Primary intraosseous melanotic schwannoma of the fibula associated with the Carney complex. (16930334)
2006
28
Clinical phenotypes and molecular genetic mechanisms of Carney complex. (15992699)
2005
29
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. (15371594)
2004
30
Eyelid myxoma in Carney complex without PRKAR1A allelic loss. (15368482)
2004
31
Pituitary pathology in Carney complex patients. (15761655)
2004
32
Clinical and molecular genetics of Carney complex. (12666684)
2003
33
PRKAR1A gene mutations in two patients with myxoma syndrome (Carney complex)]. (12891303)
2003
34
A typical Korean case of Carney complex. (14717239)
2003
35
Genetic testing of the family with a Carney-complex member leads to successful early removal of an asymptomatic atrial myxoma in the mother of the patient. (12752185)
2003
36
Chromosome 2 (2p16) abnormalities in Carney complex tumours. (12676898)
2003
37
Pituitary adenoma in Carney complex: an immunohistochemical, ultrastructural, and immunoelectron microscopic study. (12537759)
2002
38
Carney complex: report of a Japanese case associated with cutaneous superficial angiomyxomas, labial lentigines, and a pituitary adenoma. (12532046)
2002
39
Ovarian tumors associated with multiple endocrine neoplasias and related syndromes (Carney complex, Peutz-Jeghers syndrome, von Hippel-Lindau disease, Cowden's disease). (12144681)
2002
40
Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the &quot;complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas&quot; (Carney complex). (11061550)
2000
41
Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. (11595829)
2000
42
Epithelioid blue nevus: a rare variant of blue nevus not always associated with the Carney complex. (10847545)
2000
43
Removal of a lumbar melanotic schwannoma via the far-lateral approach in a patient with Carney complex. Case report. (10763702)
2000
44
Epithelioid blue nevus occurring in children with no evidence of Carney complex. (10535581)
1999
45
Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex). (9104925)
1997
46
Testicular ultrasound in Carney complex: report of three cases. (9142622)
1997
47
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. (8609225)
1996
48
Psammomatous melanotic schwannoma of a spinal nerve root. Relationship with the Carney complex. (9122034)
1996
49
Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. (7640202)
1995
50
The Carney complex with ocular signs suggestive of cardiac myxoma. (2039038)
1991

Variations for Carney Complex

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Carney Complex:

65
id Symbol AA change Variation ID SNP ID
1PRKAR1Ap.Ser9AsnVAR_046894
2PRKAR1Ap.Arg74CysVAR_046895
3PRKAR1Ap.Arg146SerVAR_046896
4PRKAR1Ap.Asp183TyrVAR_046897
5PRKAR1Ap.Ala213AspVAR_046898
6PRKAR1Ap.Gly289TrpVAR_046899

Clinvar genetic disease variations for Carney Complex:

1 (show all 27)
id Gene Name 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
4PRKAR1APRKAR1A, 1-BP DEL, 710GdeletionPathogenic
5PRKAR1APRKAR1A, 2-BP DEL, 845TCdeletionPathogenic
6PRKAR1APRKAR1A, 2-BP DEL, 576TGdeletionPathogenic
7PRKAR1ANM_212472.2(PRKAR1A): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs281864779GRCh37Chr 17, 66511541: 66511541
8PRKAR1ANM_002734.4(PRKAR1A): c.708+1G> Tsingle nucleotide variantPathogenicrs281864798GRCh37Chr 17, 66522054: 66522054
9PRKAR1ANM_002734.4(PRKAR1A): c.220C> T (p.Arg74Cys)single nucleotide variantPathogenicrs137853303GRCh37Chr 17, 66518939: 66518939
10PRKAR1ANM_002734.4: c.709-7_709-2delTTTTTAdeletionPathogenicrs281864801GRCh37Chr 17, 66523974: 66523979
11PRKAR1ANM_002734.4(PRKAR1A): c.101_105delCTATT (p.Ser34Cysfs)deletionPathogenicrs281864788GRCh37Chr 17, 66511641: 66511645
12PRKAR1ANM_002734.4(PRKAR1A): c.109C> T (p.Gln37Ter)single nucleotide variantPathogenicrs281864781GRCh37Chr 17, 66511649: 66511649
13PRKAR1ANM_002734.4(PRKAR1A): c.124C> T (p.Arg42Ter)single nucleotide variantPathogenicrs281864782GRCh37Chr 17, 66511664: 66511664
14PRKAR1ANM_002734.4(PRKAR1A): c.139delA (p.Met47Trpfs)deletionPathogenicrs281864789GRCh37Chr 17, 66511679: 66511679
15PRKAR1ANM_002734.4(PRKAR1A): c.178-2A> Gsingle nucleotide variantPathogenicrs281864796GRCh37Chr 17, 66518895: 66518895
16PRKAR1ANM_002734.4(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del)deletionPathogenicGRCh37Chr 17, 66518897: 66519067
17PRKAR1ANM_002734.4(PRKAR1A): c.286C> T (p.Arg96Ter)single nucleotide variantPathogenicrs281864783GRCh37Chr 17, 66519005: 66519005
18PRKAR1ANM_002734.4(PRKAR1A): c.348+1G> Csingle nucleotide variantPathogenicrs281864797GRCh37Chr 17, 66519068: 66519068
19PRKAR1ANM_002734.4: c.550-9_550-2delGCACTTTAdeletionPathogenicrs281864800GRCh37Chr 17, 66521886: 66521893
20PRKAR1ANM_002734.4(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs)indelPathogenicrs281864792GRCh37Chr 17, 66521911: 66521912
21PRKAR1ANM_002734.4(PRKAR1A): c.638C> A (p.Ala213Asp)single nucleotide variantPathogenicrs281864786GRCh37Chr 17, 66521983: 66521983
22PRKAR1ANM_002734.4(PRKAR1A): c.682C> T (p.Arg228Ter)single nucleotide variantPathogenicrs281864784GRCh37Chr 17, 66522027: 66522027
23PRKAR1ANM_002734.4(PRKAR1A): c.693dupT (p.Arg232Terfs)duplicationPathogenicrs281864793GRCh37Chr 17, 66522038: 66522039
24PRKAR1ANM_002734.4(PRKAR1A): c.712_713insAA (p.Ser238Lysfs)insertionPathogenicrs281864794GRCh37Chr 17, 66523984: 66523985
25PRKAR1ANM_002734.4(PRKAR1A): c.82C> T (p.Gln28Ter)single nucleotide variantPathogenicrs281864780GRCh37Chr 17, 66511622: 66511622
26PRKAR1ANM_002734.4(PRKAR1A): c.846_847insA (p.Val283Serfs)insertionPathogenicrs281864795GRCh37Chr 17, 66525087: 66525088
27PRKAR1ANM_002734.4(PRKAR1A): c.85_95delGCGCTGCTCAA (p.Ala29Argfs)deletionPathogenicrs281864787GRCh37Chr 17, 66511625: 66511635

Expression for genes affiliated with Carney Complex

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Carney Complex

Search GEO for disease gene expression data for Carney Complex.

Pathways for genes affiliated with Carney Complex

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Sources:
51PathCards, 54QIAGEN, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters
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Compounds for genes affiliated with Carney Complex

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Sources:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Carney Complex according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-amino acid469.5SYP, PRKAR1A
2magnesium46 25 1210.8PRKAR1A, STK11, SYP
3cyclic amp46 259.7CNC2, SYP, STK11, PRKAR1A
4vegf468.6SYP, MEN1, STK11

GO Terms for genes affiliated with Carney Complex

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Sources:
17Gene Ontology
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Cellular components related to Carney Complex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432348.5SYP, MEN1, PRKAR1A
2cytosolGO:0058297.7MEN1, STK11, PRKAR1A, MYH8, AIP

Biological processes related to Carney Complex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1energy reserve metabolic processGO:0061129.3STK11, PRKAR1A
2cell cycle arrestGO:0070509.1MEN1, STK11
3positive regulation of transforming growth factor beta receptor signaling pathwayGO:0305119.0MEN1, STK11

Products for genes affiliated with Carney Complex

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carney Complex

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet