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Carney Complex

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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; Complex, Carney; Complex, Carney Myxoma-Endocrine; LAMB Syndromes; Myxoma-Endocrine Complex, Carney; NAME Syndromes; Syndrome, Carney; Syndrome, LAMB; Syndrome, NAME; Syndromes, LAMB; Syndromes, NAME; 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: 141 relevant articles (0 outcomes, 8 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Acromegaly
2.	Pituitary Neoplasms (Pituitary Adenoma)
3.	Gigantism
4.	Multiple Endocrine Neoplasia (Multiple Endocrine Adenomatosis)
5.	Neurilemmoma (Schwannoma)

Experts

1.	Stratakis, Constantine A: 35 articles (02/2016 - 06/2002)
2.	Kirschner, Lawrence S: 13 articles (03/2014 - 10/2002)
3.	Bertherat, Jérôme: 9 articles (11/2015 - 12/2002)
4.	Stratakis, C A: 9 articles (11/2005 - 03/2000)
5.	Carney, J Aidan: 7 articles (09/2014 - 12/2002)
6.	Groussin, Lionel: 7 articles (01/2011 - 12/2002)
7.	Bertagna, Xavier: 6 articles (11/2015 - 12/2002)
8.	Horvath, Anelia: 6 articles (03/2012 - 05/2006)
9.	Nesterova, Maria: 6 articles (03/2012 - 01/2008)
10.	Bourdeau, Isabelle: 6 articles (06/2009 - 06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Carney Complex:

1.	Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA 03/01/2014 - "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." 07/01/2005 - "Molecular genetic studies show that mutations in the PRKAR1A gene, encoding the R1alpha regulatory subunit of cyclic-AMP-dependent protein kinase A, are the cause of Carney complex in most patients. " 03/01/2014 - "With regard to hyperplastic conditions, genetic investigations have allowed the association of the majority of cases of primary pigmented nodular adrenocortical disease (PPNAD) in Carney complex to mutations in the gene encoding the regulatory subunit 1A of protein kinase A (PRKAR1A). " 12/01/2011 - "Carney complex is an autosomal dominant disorder that occurs due to a mutation in PRKAR1A, which encodes protein kinase A. " 01/01/2011 - "Carney complex (CNC) is an autosomal dominant multiple neoplasia, caused mostly by inactivating mutations of the regulatory subunit 1A of the protein kinase A (PRKAR1A). "
2.	Growth Hormone (Somatotropin)IBA 06/01/2008 - "We report the case of a 12-year-old female patient with Carney complex who manifested a high value of serum growth hormone (s-GH), cutaneous angiomyxomas and labial pigmented lesions. " 01/01/2006 - "Pituitary pathology in patients with Carney Complex: growth-hormone producing hyperplasia or tumors and their association with other abnormalities." 01/01/2006 - "Hereditary cases of growth hormone (GH)-secreting tumors have been classified into three clinical entities: the multiple endocrine neoplasia type 1 (MEN1) syndrome, the Carney complex (CNC) and the isolated familial somatotropinomas (IFS). " 03/01/2000 - "Of the 14 pituitary adenomas recognized in association with Carney complex, 12 developed growth hormone (GH) hypersecretion (producing gigantism in two patients and acromegaly in 10), and results of immunohistochemical studies in one of the other two were positive for GH. " 01/01/2004 - "The great majority of growth hormone (GH)-secreting pituitary tumors are sporadic, though a few occur with a familial aggregation, either as a component of multiple endocrine neoplasia, type 1 (MEN1) or Carney Complex, or when unassociated with other tumors, as isolated familial somatotropinomas (IFS). "
3.	aryl hydrocarbon receptor-interacting proteinIBA 01/01/2011 - "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. "
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. " 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.	Succinate Dehydrogenase (Fumarate Reductase)IBA 04/01/2014 - "GISTs can be divided according to immunoexpression of the beta subunit of mitochondrial enzyme succinate dehydrogenase (SDHB) to SDHB-positive (encompassing KIT, PDGFRA and NF1 mutated GISTs), and SDHB-deficient GISTs (including Carney-Stratakis syndrome, Carney triad, sporadic pediatric GISTs, and a small subset of sporadic adult GISTs). " 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. "
6.	ProlactinIBA 04/01/2000 - "In the present study, seven patients with Carney complex, who belonged to three unrelated kindreds and had relatives with acromegaly, were investigated for the presence of GH and prolactin (PRL) secretion abnormalities (familial cases). " 04/01/2000 - "Prolactin secretion abnormalities in patients with the "syndrome of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex)." 04/01/2000 - "We conclude that prolactin hypersecretion, albeit mild, appears to be frequent in patients with Carney complex, is inherited in an autosomal dominant manner in kindreds with the syndrome, and may be associated with elevated IGF-I levels in some, but not all, patients." 01/01/2005 - "Patients with Carney complex or McCune-Albright syndrome may exhibit hyperprolactinemia due to a pituitary tumor derived from somatomammotropic cells that secrete both growth hormone and prolactin. "
7.	Hecht syndromeIBA 07/29/2004 - "Clinical evaluations demonstrated that the Carney complex cosegregated with the trismus-pseudocamptodactyly syndrome in Family 1, and genetic analyses demonstrated linkage of the disease to chromosome 17p12-p13.1 (maximum multipoint lod score, 4.39). " 07/29/2004 - "Positional cloning and mutational analyses of candidate genes were performed to identify the genetic cause of disease in the family with the Carney complex as well as in the families with the trismus-pseudocamptodactyly syndrome. " 07/29/2004 - "To identify the cause of a Carney complex variant associated with distal arthrogryposis (the trismus-pseudocamptodactyly syndrome), we performed clinical and genetic studies. " 01/01/2008 - "We report a 20-year-old man with trismus-pseudocamptodactyly (TPS) syndrome who was found to have the same MYH8 mutation, p.R674Q, described in previous families with TPS syndrome and in one family with a Carney complex variant, trismus and pseudocamptodactyly. "
8.	Myosins (Myosin)IBA 07/01/2005 - "Further genetic studies in human beings have highlighted novel variant phenotypes, such as congenital contractures, which are potentially associated with Carney complex, and have identified alternative genetic pathways to cardiac tumorigenesis, including mutation of the MYH8 gene that encodes perinatal myosin."
9.	Adrenocorticotropic Hormone (ACTH)FDA Link 01/01/2016 - "Primary pigmented nodular adrenocortical disease (PPNAD), whether in the context of Carney complex (CNC) or isolated, leads to ACTH-independent Cushing's syndrome (CS). " 11/01/2015 - "Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing's syndrome that may occur in an isolated form or as part of Carney complex. " 03/01/2010 - "PPNAD should be suspected in cases of ACTH-independent Cushing syndrome, and screening for Carney complex and its complications is recommended in all cases of PPNAD, including first-degree relatives." 10/01/2009 - "Imaging can suspect bilateral 'adrenal' Cushing, when the two adrenals are small, as in the primary pigmented nodular adrenal dysplasia associated with Carney complex, or enlarged, as in the ACTH-independent macronodular adrenocortical hyperplasia. " 01/01/2009 - "Both familial and sporadic forms exist: the familial form, or Carney complex, and ACTH-independent bilateral macronodular hyperplasia, in which the size of the adrenal glands is considerably enlarged. "
10.	Pendred syndromeIBA 01/01/2012 - "The syndromic-associated group is composed of predominately non-thyroidal tumors and includes Pendred syndrome, Warner syndrome, Carney complex (CNC) type 1, PTEN-hamartoma tumor syndrome (PHTS; Cowden disease), and familial adenomatous polyposis (FAP)/Gardner syndrome. " 12/01/2010 - "The first group includes familial syndromes characterized by a predominance of non-thyroidal tumors, such as familial adenomatous polyposis (FAP), PTEN-hamartoma tumor syndrome (Cowden disease; PHTS), Carney complex, Werner syndrome, and Pendred syndrome. " 11/01/2010 - "This review will discuss the clinical and pathological findings of the patients with familial syndrome-associated tumors: PTEN-hamartoma tumor syndrome/Cowden syndrome, familial adenomatous polyposis syndrome, Carney complex type 1, Werner syndrome, and Pendred syndrome." 07/01/2010 - "Most cases of familial thyroid cancer are nonmedullary (NMFTC), and have been shown to be present in familial cancer syndromes such as familial adenomatous polyposis, Cowden syndrome, Carney complex, Pendred syndrome, and Werner syndrome. " 11/01/2010 - "The first group, syndromic-associated tumors, includes phosphase and tensin (PTEN)-hamartoma tumor syndrome/Cowden syndrome, familial adenomatous polyposis/Gardner syndrome, Carney complex type 1, Werner syndrome, and Pendred syndrome. "

Therapies and Procedures

1.	Adrenalectomy 01/01/2011 - "We report a case of Carney Complex that was referred for adrenalectomy. " 07/01/2008 - "Genetic investigation revealed a mutation on the long arm of chromosome 17 in both patients; this mutation had previously been described only in Carney complex type 1. Unilateral adrenalectomy was performed in both these cases, 13 years ago and 7 months ago, respectively. " 04/01/1997 - "Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy." 09/01/2014 - "The original 4 patients with Cushing syndrome who underwent bilateral adrenalectomy for primary pigmented nodular adrenocortical disease were followed up for an average of 31 years to determine whether they or any of their primary relatives had developed Carney complex or its components. "
2.	Thoracotomy 01/01/2014 - "Carney complex: fourth time excision of recurrent atrial myxoma via left thoracotomy." 01/01/2014 - "This report describes a case of synchronous left atrial myxomas from Carney complex resected through a right thoracotomy. " 01/01/2014 - "Tumorectomy with right thoracotomy for synchronous left atrial myxomas from Carney complex: report of a case."
3.	Epidural Analgesia 01/01/2015 - "Herein, we present a patient with Carney complex who successfully delivered vaginally with labor epidural analgesia. "
4.	Chinese Traditional Medicine (Traditional Chinese Medicine) 10/01/2011 - "For the clinical application of Shenmai injection, the average age of the patients using Shenmai injection was about 64.68, but most of them came from cardiovascular diseases department Shenmai injection was usually used to treat coronary disease in Western medicine and Xiongbi (Chinese medicine syndrome name) in traditional Chinese medicine. "
5.	Lasers (Laser) 11/01/2008 - "[Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X]."