Rare Neurology News

Disease Profile

Adrenocortical carcinoma

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.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Childhood

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ICD-10

C74.0

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.

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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)

ACC

Categories

Blood Diseases; Endocrine Diseases; Female Reproductive Diseases;

Summary

Adrenocortical carcinoma is a rare cancer affecting the outside of the adrenal glands (adrenal cortex). These glands are on top of each kidney and are responsible for producing certain hormones and keeping blood pressure at normal levels. Adrenocortical carcinoma is relatively frequent in children compared to many other cancers, although the cancer may also affect adults. Girls are more often affected than boys. Symptoms of adrenocortical carcinoma may include pain in the abdomen, hypertension, weight gain, frequent urination and possibly deepening of the voice. These symptoms are due to the tumors causing excess secretion of hormones from the adrenal glands.[1]

Adrenocortical carcinoma may develop by chance alone, but at least 50% of the cancers are thought to be hereditary. There are a number of genes that have changes (mutations) that can cause an adrenocortical carcinoma, including TP53 and IGF2. There have been reports of both autosomal dominant inheritance and autosomal recessive inheritance.[2]

An adrenocortical carcinoma is diagnosed based on urine tests for abnormal levels of cortisol, the hormone released by the adrenal glands. Blood tests can also be conducted to measure levels of potassium and sodium in the blood. A CT scan or MRI may be used to search for a visible tumor in the adrenal cortex. Treatment options include surgical removal of the tumor, which is important to achieve a good long-term outlook. Chemotherapy, specifically a drug called mitotane, can be used to try to remove any remaining cancer after surgery.[1][3] 

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
Adrenocortical carcinoma
0006744
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormal serum dehydroepiandrosterone level
0500022
Abnormality of reproductive system physiology
Genital functional abnormality
0000080
Adrenocorticotropic hormone deficiency
0011748
Anxiety
Excessive, persistent worry and fear
0000739
Diabetes mellitus
0000819
Elevated serum 11-deoxycortisol
0025436
Hyperaldosteronism
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production

[ more ]

0000859
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]

0000975
Hypertension
0000822
Hypertrichosis
0000998
Hypokalemia
Low blood potassium levels
0002900
Increased body weight
0004324
Increased serum androstenedione
0025380
Increased serum estradiol
0025134
Increased urinary cortisol level
High urine cortisol level
0012030
Irritability
Irritable
0000737
Lung adenocarcinoma
0030078
Muscle weakness
Muscular weakness
0001324
Palpitations
Missed heart beat
Skipped heart beat

[ more ]

0001962
Panic attack
0025269
Paradoxical increased cortisol secretion on dexamethasone suppression test
0003466
Striae distensae
Stretch marks
0001065
Weight loss
0001824
5%-29% of people have these symptoms
Abnormality of urine homeostasis
Pee issues
Urine issues

[ more ]

0003110
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006

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

      • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          Adrenal Carcinoma
          Adrenal Carcinoma Imaging
        • 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. 
        • 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 Adrenocortical carcinoma. Click on the link to view a sample search on this topic.

          References

          1. Dr. Bernadette Brennan. Adrenocortical carcinoma. Orphanet; June 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1501.
          2. Victor A. McKusick and George E. Tiller. Adrenocortical Carcinoma, Hereditary; ADCC. Online Mendelian Inheritance in Man; November 21, 2011; https://www.omim.org/entry/202300.
          3. Adrenocortical Carcinoma Treatment. National Cancer Institute; May 27, 2016; https://www.cancer.gov/types/adrenocortical/patient/adrenocortical-treatment-pdq.