CAR
MCID: CRN008
MIFTS: 67

Carney Complex (CAR) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Endocrine diseases, Cancer diseases, Neuronal diseases, Bone diseases, Fetal diseases categories
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Summaries for Carney Complex

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NIH Rare Diseases:42 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, also known as carney syndrome, is related to peutz-jeghers syndrome and cowden disease, and has symptoms including abnormal pigmentation of the oral mucosa/gingivae, gynecomastia/breast/mammary gland enlargement/hyperplasia and abnormal pigmentary skin changes/skin pigmentation anomalies. 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.

Disease Ontology:8 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.

Wikipedia:65 Carney complex and its subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions... more...

Descriptions from OMIM:46 160980,605244,608837

GeneReviews summary for carney

Aliases & Classifications for Carney Complex

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Carney Complex, Aliases & Descriptions:

Name: Carney Complex 8 19 42 20 22 21 10 48 62
Carney Syndrome 8 19 42 21 48 62
Carney Complex, Type 1 8 9 22 46 62
Carney Complex, Type Ii 9 22 46
Name Syndrome 8 42 48
Carney Myxoma-Endocrine Complex 42 62
Lamb Syndrome 8 42
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 21
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 21
 
Nevi - Atrial Myxoma - Myxoid Neurofibromata - Ephelides 48
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 42
Myxoma - Spotty Pigmentation - Endocrine Overactivity 48
Myxoma-Spotty Pigmentation-Endocrine Overactivity 42
Carney Complex, Type 2 8
Familial Myxoma 19
Cnc1 42
Car 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
carney complex:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050471
NCIt39 C4705
MeSH34 D056733
MESH via Orphanet35 D056733
ICD10 via Orphanet26 D44.8
UMLS via Orphanet63 C0406810, C2607929

Related Diseases for Carney Complex

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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 64)
idRelated DiseaseScoreTop Affiliating Genes
1peutz-jeghers syndrome30.6CNC2, STK11, PRKAR1A
2cowden disease30.4STK11, CNC2
3multiple endocrine neoplasia30.4PRKAR1A, MEN1, CNC2
4adrenal adenoma30.0CNC2, MEN1, PRKAR1A
5pituitary adenoma29.9AIP, PRKAR1A, MEN1, SYP, CNC2
6adenoma29.7AIP, PRKAR1A, STK11, MEN1, SYP, CNC2
7cushing's syndrome29.7PRKAR1A, MEN1, SYP, CNC2
8acromegaly29.6AIP, PRKAR1A, MEN1, CNC2
9pituitary tumors29.6CNC2, MEN1, PRKAR1A, AIP
10primary pigmented nodular adrenocortical disease10.5
11carney complex variant10.5
12mccune albright syndrome10.3
13thyroiditis10.3
14lipomatosis10.3MEN1
15aneurysm10.2
16adrenal gland hyperfunction10.2CNC2, PRKAR1A
17thyroid adenoma10.2CNC2, PRKAR1A
18neurilemmoma10.2CNC2, PRKAR1A
19chondrodysplasia10.1
20hepatocellular carcinoma10.1
21male infertility10.1
22von hippel-lindau disease10.1
23growth hormone secreting pituitary adenoma10.1
24ectopic thymus10.1
25infertility10.1
26intracranial aneurysm10.1
27myxosarcoma10.1
28cerebritis10.1
29sertoli cell tumor10.1
30hyperthyroidism10.1
31melanoma10.1
32pancreatitis10.1
33papillary thyroid carcinoma10.1
34thyroid cancer10.1
35acth-independent macronodular adrenal hyperplasia10.1
36gigantism10.1
37cerebral aneurysms10.1
38thyroid carcinoma, follicular, somatic10.1
39pigmented nodular adrenocortical disease, primary, 110.1
40teratoma10.1
41benign schwannoma10.1
42parathyroid adenoma10.1MEN1, PRKAR1A
43primary hyperparathyroidism10.1PRKAR1A, MEN1
44secondary hyperparathyroidism of renal origin10.1PRKAR1A, MEN1
45tuberous sclerosis10.1SYP, STK11
46hyperparathyroidism10.0MEN1, PRKAR1A
47paragangliomas 1, with or without deafness10.0
48thyroid medullary carcinoma10.0PRKAR1A, MEN1
49pancreatic islet cell tumors10.0SYP, MEN1
50gastrinoma10.0MEN1, SYP

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



Diseases related to carney complex

Symptoms for Carney Complex

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Symptoms by clinical synopsis from OMIM:

160980

Clinical features from OMIM:

160980,605244,608837

Symptoms:

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

HPO human phenotypes related to Carney Complex:

(show all 57)
id Description Frequency HPO Source Accession
1 gynecomastia hallmark (90%) HP:0000771
2 growth hormone excess hallmark (90%) HP:0000845
3 melanocytic nevus hallmark (90%) HP:0000995
4 hypercortisolism hallmark (90%) HP:0001578
5 neoplasm of the skin hallmark (90%) HP:0008069
6 testicular neoplasm hallmark (90%) HP:0010788
7 neoplasm of the thyroid gland hallmark (90%) HP:0100031
8 neoplasm of the heart hallmark (90%) HP:0100544
9 neoplasm of the adrenal gland hallmark (90%) HP:0100631
10 abnormal pigmentation of the oral mucosa hallmark (90%) HP:0100669
11 coarse facial features typical (50%) HP:0000280
12 round face typical (50%) HP:0000311
13 behavioral abnormality typical (50%) HP:0000708
14 hypertension typical (50%) HP:0000822
15 thin skin typical (50%) HP:0000963
16 hypertrichosis typical (50%) HP:0000998
17 large hands typical (50%) HP:0001176
18 joint swelling typical (50%) HP:0001386
19 congestive heart failure typical (50%) HP:0001635
20 broad foot typical (50%) HP:0001769
21 truncal obesity typical (50%) HP:0001956
22 cerebral ischemia typical (50%) HP:0002637
23 osteoarthritis typical (50%) HP:0002758
24 kyphosis typical (50%) HP:0002808
25 arthralgia typical (50%) HP:0002829
26 amyotrophy typical (50%) HP:0003202
27 reduced bone mineral density typical (50%) HP:0004349
28 abnormality of temperature regulation typical (50%) HP:0004370
29 type ii diabetes mellitus typical (50%) HP:0005978
30 abnormality of adipose tissue typical (50%) HP:0009124
31 neoplasm of the breast typical (50%) HP:0100013
32 cryptorchidism occasional (7.5%) HP:0000028
33 tall stature occasional (7.5%) HP:0000098
34 precocious puberty occasional (7.5%) HP:0000826
35 striae distensae occasional (7.5%) HP:0001065
36 sudden cardiac death occasional (7.5%) HP:0001645
37 mitral stenosis occasional (7.5%) HP:0001718
38 weight loss occasional (7.5%) HP:0001824
39 anemia occasional (7.5%) HP:0001903
40 neoplasm of the nervous system occasional (7.5%) HP:0004375
41 cognitive impairment occasional (7.5%) HP:0100543
42 ovarian neoplasm occasional (7.5%) HP:0100615
43 autosomal dominant inheritance HP:0000006
44 abnormality of the eye HP:0000478
45 growth hormone excess HP:0000845
46 hirsutism HP:0001007
47 freckling HP:0001480
48 congestive heart failure HP:0001635
49 red hair HP:0002297
50 pheochromocytoma HP:0002666
51 thyroid carcinoma HP:0002890
52 pituitary adenoma HP:0002893
53 nevus HP:0003764
54 profuse pigmented skin lesions HP:0005587
55 myxoid subcutaneous tumors HP:0006769
56 thyroid follicular hyperplasia HP:0008225
57 schwannoma HP:0100008

Drugs & Therapeutics for Carney Complex

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Drug clinical trials:

Search ClinicalTrials for Carney Complex

Search NIH Clinical Center for Carney Complex

Genetic Tests for Carney Complex

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Genetic tests related to Carney Complex:

id Genetic test Affiliating Genes
1 Carney Complex20 22 PRKAR1A
2 Carney Complex, Type 122
3 Carney Complex, Type 222

Anatomical Context for Carney Complex

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MalaCards organs/tissues related to Carney Complex:

32
Skin, Heart, Pituitary, Testes, Breast, Thyroid, Eye, Ovary, Hypothalamus, Adrenal gland, Thymus, Pancreas

Animal Models for Carney Complex or affiliated genes

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MGI Mouse Phenotypes related to Carney Complex:

36
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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Articles related to Carney Complex:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Tumorectomy with right thoracotomy for synchronous left atrial myxomas from Carney complex: report of a case. (23052755)
2014
2
Carney complex presenting with a unilateral adrenocortical nodule: a case report. (24499519)
2014
3
PKA RII+ Homodimer Structure Reveals an Intermolecular Interface with Implications for Cooperative cAMP Binding and Carney Complex Disease. (24316401)
2014
4
PRKACB and Carney complex. (24571725)
2014
5
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
6
Obstructive right atrial myxoma in association with Carney complex. (23266189)
2013
7
Myxoma of the ear lobe in a 23-month-old girl with Carney complex. (21880053)
2012
8
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
9
Epithelioid blue nevus not associated with Carney complex in a Korean patient. (22772645)
2012
10
Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented. (22341669)
2012
11
Thyroid-specific ablation of the Carney complex gene, PRKAR1A, results in hyperthyroidism and follicular thyroid cancer. (22514108)
2012
12
Utility of genetic testing in multisite myxoma to rule out Carney complex. (21429888)
2011
13
Anesthetic experiences of myxoma removal surgery in two patients with Carney complex -A report of two cases-. (22220234)
2011
14
Recurrent atrial myxoma: resection for Carney complex through a minimally invasive approach. (20487111)
2010
15
Carney complex: a case report. (19438156)
2009
16
Carney complex and lentiginosis. (19650827)
2009
17
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
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
Carney complex and the familial lentiginosis syndromes: link to inherited neoplasias and developmental disorders, and genetic loci. (9681861)
1998
46
Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex). (9104925)
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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UniProtKB/Swiss-Prot genetic disease variations for Carney Complex:

64
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:

6 (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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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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Compounds for genes affiliated with Carney Complex

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Carney Complex according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-amino acid449.5SYP, PRKAR1A
2magnesium44 24 1110.8PRKAR1A, STK11, SYP
3cyclic amp44 249.7CNC2, SYP, STK11, PRKAR1A
4vegf448.6SYP, MEN1, STK11

GO Terms for genes affiliated with Carney Complex

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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
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Sources for Carney Complex

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet