Rare Nephrology News

Disease Profile

Carney complex

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

D44.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Carney syndrome; CNC1; Carney myxoma-endocrine complex;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;

Summary

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 mutations 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 mutation from one affected parent.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Pigmented micronodular adrenocortical disease
0001580
80%-99% of people have these symptoms
Multiple lentigines
0001003
30%-79% of people have these symptoms
Abnormal prolactin level
0040086
Abnormality of circulating adrenocorticotropin level
0011043
Blue nevus
0100814
Cardiac myxoma
0011672
Enlarged polycystic ovaries
Enlarged ovaries with cysts
0008675
Growth hormone excess
0000845
Hirsutism
Excessive hairiness
0001007
Increased circulating cortisol level
0003118
Increased urinary cortisol level
High urine cortisol level
0012030
Peripheral Schwannoma
0009593
Pituitary growth hormone cell adenoma
0011760
Profuse pigmented skin lesions
0005587
Thyroid adenoma
0000854
Thyroid follicular hyperplasia
0008225
Vestibular Schwannoma
0009588
5%-29% of people have these symptoms
Adrenal pheochromocytoma
0006748
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Fibroadenoma of the breast
0010619
Hypertension associated with pheochromocytoma
0002640
Pigmentation of the sclera
0007832
Pituitary prolactin cell adenoma
0006767
Recurrent paroxysmal headache
0002331
Red hair
Red hair color
Red head (hair color)

[ more ]

0002297
Thyroid carcinoma
0002890
Uterine neoplasm
Uterine tumor
0010784
1%-4% of people have these symptoms
Adrenocortical carcinoma
0006744
Bronchogenic cyst
0100730
Cafe-au-lait spot
0000957
Colon cancer
0003003
Hepatocellular adenoma
0012028
Histiocytoma
0012315
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor

[ more ]

0002894
Osteochondroma
0030431
Parathyroid adenoma
0002897
Sertoli cell neoplasm
0100619
Stomach cancer
0012126
Percent of people who have these symptoms is not available through HPO
Abnormality of the eye
Abnormal eye
0000478
Autosomal dominant inheritance
0000006
Freckling
0001480
Myxoid subcutaneous tumors
0006769
Nevus
Mole
0003764
Pheochromocytoma
0002666
Pituitary adenoma
Noncancerous tumor in pituitary gland
0002893
Schwannoma
0100008

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • MedlinePlus Genetics contains information on Carney complex. This website is maintained by the National Library of Medicine.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
            Online Mendelian Inheritance in Man (OMIM)
            Online Mendelian Inheritance in Man (OMIM)
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Carney complex. Click on the link to view a sample search on this topic.

            References

            1. Stratakis CA, Salpea P, Raygada M. Carney Complex. Gene Reviews. January 29, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1286/. Accessed 4/6/2015.
            2. Carney complex. Genetics Home Reference (GHR). January 2010; https://ghr.nlm.nih.gov/condition/carney-complex. Accessed 4/6/2015.