CACOV
MCID: CRN038
MIFTS: 62
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Carney Complex Variant (CACOV)
Categories:
Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Carney Complex Variant:
Characteristics:Inheritance:
Carney Complex:
Autosomal dominant 58
Prevelance:
Carney Complex-Trismus-Pseudocamptodactyly Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Carney Complex-Trismus-Pseudocamptodactyly Syndrome:
Neonatal 58
Carney Complex:
Infancy,Neonatal 58
GeneReviews:24
Penetrance The overall penetrance of cnc in those with a prkar1a pathogenic variant is greater than 95% by age 50 years....
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Skin diseases Endocrine diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 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.Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of the four chambers of the heart and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Myxomas may also develop on the skin and in internal organs. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In Carney complex, myxomas have a tendency to recur after they are removed.Individuals with Carney complex also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce an excess of the hormone cortisol. High levels of cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.People with Carney complex may also develop tumors of other endocrine tissues, including the thyroid, testes, and ovaries. A tumor called an adenoma may form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized by large hands and feet, arthritis, and "coarse" facial features.Some people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma. This tumor occurs in specialized cells called Schwann cells, which wrap around and insulate nerves. This tumor is usually benign, but in some cases it can become cancerous (malignant).Almost all people with Carney complex have areas of unusual skin pigmentation. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus. MalaCards based summary: Carney Complex Variant, also known as carney complex, is related to adrenal carcinoma and multiple endocrine neoplasia. An important gene associated with Carney Complex Variant is MYH8 (Myosin Heavy Chain 8), and among its related pathways/superpathways are Signal Transduction and ERK Signaling. Affiliated tissues include skin, pituitary and bone, and related phenotypes are pigmented micronodular adrenocortical disease and multiple cafe-au-lait spots UniProtKB/Swiss-Prot: 73 Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. Orphanet 58 Carney complex: Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Carney complex-trismus-pseudocamptodactyly syndrome: Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). GARD: 19 Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have genetic changes in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the genetic change from one affected parent. Disease Ontology: 11 A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
More information from OMIM:
608837
GeneReviews:
NBK1286
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Human phenotypes related to Carney Complex Variant:58 30 (show top 50) (show all 68)
GenomeRNAi Phenotypes related to Carney Complex Variant according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Carney Complex Variant:45
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Interventional clinical trials:
Cochrane evidence based reviews: carney complex |
Organs/tissues related to Carney Complex Variant:
MalaCards :
Skin,
Pituitary,
Bone,
Thyroid,
Heart,
Breast,
Testes
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Articles related to Carney Complex Variant:(show top 50) (show all 848)
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ClinVar genetic disease variations for Carney Complex Variant:5 (show all 31)
UniProtKB/Swiss-Prot genetic disease variations for Carney Complex Variant:73
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Search
GEO
for disease gene expression data for Carney Complex Variant.
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Pathways related to Carney Complex Variant according to GeneCards Suite gene sharing:(show top 50) (show all 61)
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Cellular components related to Carney Complex Variant according to GeneCards Suite gene sharing:
Biological processes related to Carney Complex Variant according to GeneCards Suite gene sharing:
Molecular functions related to Carney Complex Variant according to GeneCards Suite gene sharing:
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