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Carney Complex

Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2).
Also Known As:
Carney Complex, Type 1; Carney Complex, Type I; Carney Myxoma-Endocrine Complex, Type II; LAMB - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome; Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome; Carney Myxoma Endocrine Complex; Carney Myxoma Endocrine Complex, Type II; Complex, Carney; Complex, Carney Myxoma-Endocrine; LAMB Syndromes; Myxoma-Endocrine Complex, Carney; NAME Syndromes; Syndrome, Carney; Syndrome, LAMB; Syndromes, LAMB; Carney Complex, Type 2; Carney Complex, Type II; Carney Myxoma-Endocrine Complex; Carney Syndrome; LAMB Syndrome; Myxoma, Spotty Pigmentation, and Endocrine Overactivity; NAME Syndrome
Networked: 177 relevant articles (0 outcomes, 10 trials/studies)

Disease Context: Research Results

Related Diseases

1. Acromegaly
2. Pituitary Neoplasms (Pituitary Adenoma)
3. Polyostotic Fibrous Dysplasia (McCune Albright Syndrome)
4. Multiple Endocrine Neoplasia (Multiple Endocrine Adenomatosis)
5. Gigantism

Experts

1. Stratakis, Constantine A: 50 articles (11/2022 - 06/2002)
2. Kirschner, Lawrence S: 13 articles (03/2014 - 10/2002)
3. Bertherat, Jérôme: 11 articles (11/2020 - 12/2002)
4. Stratakis, C A: 10 articles (07/2022 - 03/2000)
5. Carney, J Aidan: 8 articles (01/2016 - 12/2002)
6. Faucz, Fabio R: 7 articles (11/2022 - 01/2016)
7. Nesterova, Maria: 7 articles (01/2017 - 01/2008)
8. Groussin, Lionel: 7 articles (01/2011 - 12/2002)
9. Matyakhina, Ludmila: 7 articles (01/2008 - 10/2002)
10. Horvath, Anelia: 6 articles (03/2012 - 05/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Carney Complex:
1. Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA
2. Proteins (Proteins, Gene)FDA Link
3. Growth Hormone (Somatotropin)IBA
4. Hydrocortisone (Cortisol)FDA LinkGeneric
04/10/2011 - "Both Carney complex and isolated primary pigmented nodular adrenocortical disease are caused by germline PRKAR1A mutations; somatic mutations of this gene that regulates cAMP-dependent protein kinase are also found in cortisol-producing adenomas, and abnormalities of PKA are present in most cases of massive macronodular adrenocortical disease. "
01/01/2006 - "Carney complex (CNC) is a unique multiple endocrine neoplasia syndrome (MIM 160980) which is characterized by unusual biochemical features (chronic hypersomatotropinemia and paradoxical responses of cortisol production to glucocorticoids) and multi-tissue involvement. "
12/01/2014 - "Recent studies have identified L206R mutations in the alpha catalytic subunit of protein kinase A (PRKACA) in cortisol-producing adrenocortical adenomas and amplification of the beta catalytic subunit of protein kinase A PRKACB in acromegaly associated with Carney complex. "
11/01/2020 - "Genetic variants in components of the protein kinase A (PKA) enzyme have been associated with various defects and neoplasms in the context of Carney complex (CNC) and in isolated cases, such as in primary pigmented nodular adrenocortical disease (PPNAD), cortisol-producing adrenal adenomas (CPAs), and various cancers. "
06/01/2002 - "Cortisol-producing hyperplasia of the adrenal glands is caused by two distinct syndromes, both of which have been directly or indirectly associated with protein kinase A signaling: (i) primary pigmented nodular adrenocortical disease (PPNAD) (a micronodular form of bilateral adrenal hyperplasia), either isolated (rarely) or in the context of Carney complex, is caused (in most cases) by mutations of the PRKAR1A gene; and (ii) ACTH-independent macronodular adrenal hyperplasia (AIMAH), or massive macronodular adrenal disease (MMAD), has been associated with aberrant (ectopic) expression, and presumably regulation, of various G protein-coupled receptors. "
5. Adenosine Monophosphate (AMP)IBA
07/01/2011 - "To review current knowledge on the involvement of cyclic adenosine monophosphate (cAMP) and interacting signaling pathways in predisposition to tumor formation in primary pigmented nodular adrenocortical disease (PPNAD), a type of bilateral adrenal hyperplasia (BAH) related to the multiple endocrine neoplasia Carney complex, and also in isolated PPNAD and other BAHs. "
10/10/2020 - "Mutations of the regulatory subunit (PRKAR1A) of the cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA), leading to activation of the PKA pathway, are the genetic cause of Carney complex which is frequently accompanied by somatotroph tumors. "
04/01/2009 - "Consistent with a potential role of the cyclic adenosine monophosphate pathway in the proliferation of somatotrophs, germline mutations of the gene encoding the type 1alpha regulatory subunit of protein kinase A (PRKAR1A) have been found in patients with the Carney complex, a syndrome including GH-secreting adenomas, whereas alterations in the expression levels of this subunit are frequently observed in sporadic adenomas."
01/01/2021 - "The role of this signaling pathway in the development of Cushing's syndrome and adrenocortical tumors was initially discovered through the study of the underlying genetic defects causing the rare multiple endocrine neoplasia syndromes McCune-Albright syndrome and Carney complex with subsequent identification of defects in genes affecting the cyclic adenosine monophosphate-protein kinase A pathway in sporadic tumors. "
04/21/2023 - "The mutations in the different proteins involved in the Gsa/protein kinase A/c AMP signaling pathway are well-known and are responsible for many PitNETS, such as somatotropinomas and, in the context of syndromes, as the McCune-Albright syndrome, Carney complex, familiar isolated pituitary adenoma (FIPA), and X-linked acrogigantism (XLAG). "
6. aryl hydrocarbon receptor-interacting proteinIBA
10/24/2011 - "A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1); Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon receptor-interacting protein (AIP). "
01/01/2011 - "To date, the number of molecular genetic factors unequivocally linked to pituitary tumours can be counted on the fingers of one hand: (1) GNAS1 activation in acromegaly; (2) the MENIN and p27Kip1 (CDKN1B) mutations associated with multiple endocrine neoplasia type 1; (3) mutations of PRKA1RA with loss of 17q22-24 in Carney complex, and (4) aryl hydrocarbon receptor interacting protein gene mutations in 15% of familial isolated pituitary adenomas and 50% of familial isolated acromegaly. "
03/01/2008 - "GNAS1 activation and the mutations associated with multiple endocrine neoplasia type 1 and Carney complex, aryl hydrocarbon receptor interacting protein gene mutations, and a narrowing region of chromosome 11q13 in familial isolated acromegaly together account for such a small proportion of pituitary adenomas that the pituitary adenoma pathogenic epiphany is surely yet to come."
01/01/2014 - "The genetic alterations responsible for the formation of familial pituitary syndromes include the MEN1 gene, responsible for about 80% of MEN1 cases, the regulatory subunit of the protein kinase A, PRKAR1A, responsible for about 70% of Carney complex cases, and AIP, the gene coding the aryl hydrocarbon receptor interacting protein, responsible for about 20% of FIPA cases. "
02/01/2016 - "Prior studies have identified gigantism as a feature of a number of monogenic disorders, including mutations in the aryl hydrocarbon receptor interacting protein gene, multiple endocrine neoplasia types 1 and 4, McCune Albright syndrome, Carney complex, and the paraganglioma, pheochromocytoma, and pituitary adenoma association because of succinate dehydrogenase defects. "
7. Succinate Dehydrogenase (Fumarate Reductase)IBA
8. Messenger RNA (mRNA)IBA
9. ProlactinIBA
10. Myosins (Myosin)IBA

Therapies and Procedures

1. Adrenalectomy
2. Thoracotomy
3. Therapeutics
4. Lasers (Laser)
5. Epidural Analgesia