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Carney complex, type 1(CNC1)

MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Synonyms: CARNEY MYXOMA-ENDOCRINE COMPLEX; CNC1
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): PRKAR1A (17q24.2)
OMIM®: 160980

Disease characteristics

Excerpted from the GeneReview: Carney Complex
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and manifest as intracardiac obstruction of blood flow, embolic phenomena, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in almost all adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years. [from GeneReviews]
Authors:
Constantine A Stratakis  |  Paraskevi Salpea  |  Margarita Raygada   view full author information

Clinical features

Freckling
MedGen UID:
5272
Concept ID:
C0016689
Finding
The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Finding
A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth.
Schwannoma
MedGen UID:
45053
Concept ID:
C0027809
Neoplastic Process
A benign nerve sheath tumor composed of Schwann cells.
Nevus
MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Growth hormone excess
MedGen UID:
66732
Concept ID:
C0235986
Finding
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
Red hair
MedGen UID:
66796
Concept ID:
C0239803
Finding
Thyroid carcinoma
MedGen UID:
107811
Concept ID:
C0549473
Neoplastic Process
A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.
Myxoid subcutaneous tumors
MedGen UID:
331742
Concept ID:
C1834421
Neoplastic Process
Profuse pigmented skin lesions
MedGen UID:
371819
Concept ID:
C1834424
Finding
Thyroid follicular hyperplasia
MedGen UID:
369530
Concept ID:
C1969546
Finding
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175

Recent clinical studies

Etiology

Lowe KM, Young WF Jr, Lyssikatos C, Stratakis CA, Carney JA
Am J Surg Pathol 2017 Feb;41(2):171-181. doi: 10.1097/PAS.0000000000000748. PMID: 27875378Free PMC Article
Bandettini WP, Karageorgiadis AS, Sinaii N, Rosing DR, Sachdev V, Schernthaner-Reiter MH, Gourgari E, Papadakis GZ, Keil MF, Lyssikatos C, Carney JA, Arai AE, Lodish M, Stratakis CA
Endocr Relat Cancer 2016 Sep;23(9):739-46. Epub 2016 Jul 18 doi: 10.1530/ERC-16-0246. PMID: 27535175Free PMC Article
Siordia JA
J Card Surg 2015 Jul;30(7):560-7. Epub 2015 May 21 doi: 10.1111/jocs.12575. PMID: 25996461
Aguiar de Sousa D, Gouveia AI, Wessling A, Geraldes R, Canhão P
J Stroke Cerebrovasc Dis 2015 Mar;24(3):e79-81. Epub 2015 Jan 6 doi: 10.1016/j.jstrokecerebrovasdis.2014.11.001. PMID: 25576349
Briassoulis G, Kuburovic V, Xekouki P, Patronas N, Keil MF, Lyssikatos C, Stajevic M, Kovacevic G, Stratakis CA
J Stroke Cerebrovasc Dis 2012 Nov;21(8):914.e1-8. Epub 2012 Feb 15 doi: 10.1016/j.jstrokecerebrovasdis.2012.01.006. PMID: 22341669Free PMC Article

Diagnosis

Liu Q, Tong D, Liu G, Yi Y, Zhang D, Zhang J, Zhang Y, Huang Z, Li Y, Chen R, Guan Y, Yi X, Jiang J
Medicine (Baltimore) 2017 Dec;96(50):e8999. doi: 10.1097/MD.0000000000008999. PMID: 29390296Free PMC Article
Stelmachowska-Banas M, Zgliczynski W, Tutka P, Carney JA, Korbonits M
J Clin Endocrinol Metab 2017 Nov 1;102(11):3924-3927. doi: 10.1210/jc.2017-01045. PMID: 28973408Free PMC Article
Rosenblum F, Koenig RG, Mikhail FM, Porterfield JR, Nix JW, Eltoum IA
Diagn Cytopathol 2017 Jul;45(7):634-639. Epub 2017 Mar 9 doi: 10.1002/dc.23700. PMID: 28276158
Rhayem Y, Le Stunff C, Abdel Khalek W, Auzan C, Bertherat J, Linglart A, Couvineau A, Silve C, Clauser E
J Biol Chem 2015 Nov 13;290(46):27816-28. Epub 2015 Sep 24 doi: 10.1074/jbc.M115.656553. PMID: 26405036Free PMC Article
Lanjewar DN, Bhatia VO, Lanjewar SD, Carney JA
Indian J Pathol Microbiol 2014 Jul-Sep;57(3):460-2. doi: 10.4103/0377-4929.138771. PMID: 25118746

Therapy

Lonser RR, Mehta GU, Kindzelski BA, Ray-Chaudhury A, Vortmeyer AO, Dickerman R, Oldfield EH
Neurosurgery 2017 May 1;80(5):780-786. doi: 10.1227/NEU.0000000000001384. PMID: 27509071Free PMC Article
Campo MR, Lamacchia O, Farese A, Conserva A, Picca G, Grilli G, Cignarelli M
Hormones (Athens) 2015 Apr-Jun;14(2):300-4. doi: 10.14310/horm.2002.1514. PMID: 25402388
Carney JA, Libé R, Bertherat J, Young WF
Am J Surg Pathol 2014 Sep;38(9):1266-73. doi: 10.1097/PAS.0000000000000220. PMID: 24805858
Azzam R, Abdelbar A, Yap KH, Abousteit A
BMJ Case Rep 2014 Apr 30;2014 doi: 10.1136/bcr-2013-201827. PMID: 24789151Free PMC Article
Yazdan P, Haghighat Z, Guitart J, Gerami P
Am J Surg Pathol 2013 Jan;37(1):81-8. doi: 10.1097/PAS.0b013e3182608fa5. PMID: 22892599

Prognosis

Stelmachowska-Banas M, Zgliczynski W, Tutka P, Carney JA, Korbonits M
J Clin Endocrinol Metab 2017 Nov 1;102(11):3924-3927. doi: 10.1210/jc.2017-01045. PMID: 28973408Free PMC Article
Siordia JA
J Card Surg 2015 Jul;30(7):560-7. Epub 2015 May 21 doi: 10.1111/jocs.12575. PMID: 25996461
Guo H, Xu J, Xiong H, Hu S
World J Surg Oncol 2015 Feb 27;13:83. doi: 10.1186/s12957-015-0470-4. PMID: 25890363Free PMC Article
Aguiar de Sousa D, Gouveia AI, Wessling A, Geraldes R, Canhão P
J Stroke Cerebrovasc Dis 2015 Mar;24(3):e79-81. Epub 2015 Jan 6 doi: 10.1016/j.jstrokecerebrovasdis.2014.11.001. PMID: 25576349
Tamura Y, Seki T
Ann Thorac Cardiovasc Surg 2014;20 Suppl:882-4. Epub 2013 Aug 30 doi: 10.5761/atcs.cr.13-00058. PMID: 23995348

Clinical prediction guides

Kiefer FW, Winhofer Y, Iacovazzo D, Korbonits M, Wolfsberger S, Knosp E, Trautinger F, Höftberger R, Krebs M, Luger A, Gessl A
Eur J Endocrinol 2017 Aug;177(2):K7-K12. Epub 2017 May 18 doi: 10.1530/EJE-17-0227. PMID: 28522647
Bandettini WP, Karageorgiadis AS, Sinaii N, Rosing DR, Sachdev V, Schernthaner-Reiter MH, Gourgari E, Papadakis GZ, Keil MF, Lyssikatos C, Carney JA, Arai AE, Lodish M, Stratakis CA
Endocr Relat Cancer 2016 Sep;23(9):739-46. Epub 2016 Jul 18 doi: 10.1530/ERC-16-0246. PMID: 27535175Free PMC Article
Rhayem Y, Le Stunff C, Abdel Khalek W, Auzan C, Bertherat J, Linglart A, Couvineau A, Silve C, Clauser E
J Biol Chem 2015 Nov 13;290(46):27816-28. Epub 2015 Sep 24 doi: 10.1074/jbc.M115.656553. PMID: 26405036Free PMC Article
Aguiar de Sousa D, Gouveia AI, Wessling A, Geraldes R, Canhão P
J Stroke Cerebrovasc Dis 2015 Mar;24(3):e79-81. Epub 2015 Jan 6 doi: 10.1016/j.jstrokecerebrovasdis.2014.11.001. PMID: 25576349
Tamura Y, Seki T
Ann Thorac Cardiovasc Surg 2014;20 Suppl:882-4. Epub 2013 Aug 30 doi: 10.5761/atcs.cr.13-00058. PMID: 23995348

Recent systematic reviews

Thayer EK, Rathkey D, Miller MF, Palmer R, Mejicano GC, Pusic M, Kalet A, Gillespie C, Carney PA
Med Educ Online 2016 Jan;21(1):32021. doi: 10.3402/meo.v21.32021. PMID: 28165981
Thayer EK, Rathkey D, Miller MF, Palmer R, Mejicano GC, Pusic M, Kalet A, Gillespie C, Carney PA
Med Educ Online 2016;21:32021. Epub 2016 Jul 20 PMID: 27443407Free PMC Article
Del Gobbo A, Peverelli E, Treppiedi D, Lania A, Mantovani G, Ferrero S
Exp Cell Res 2016 Aug 1;346(1):85-90. Epub 2016 Jun 16 doi: 10.1016/j.yexcr.2016.06.004. PMID: 27321957
Lau D, Rutledge C, Aghi MK
Neurosurg Focus 2015 Feb;38(2):E11. doi: 10.3171/2014.10.FOCUS14700. PMID: 25639313
Crocker MK, Gourgari E, Lodish M, Stratakis CA
J Clin Endocrinol Metab 2014 Dec;99(12):E2673-80. doi: 10.1210/jc.2014-2530. PMID: 25226294Free PMC Article

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