Rare Nephrology News

Disease Profile

Esophageal cancer

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.


US Estimated

Europe Estimated

Age of onset





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


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.


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.


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


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.


Not applicable


Other names (AKA)

Esophagus cancer


Rare Cancers


Esophageal cancer is a cancer of the esophagus, the hollow tube that carries foods and liquids from the throat to the stomach. Symptoms that may develop as the cancer grows include heartburn, pain when swallowing, difficulty swallowing, a hoarse voice, a cough that does not go away, weight loss, and coughing up blood.[1][2] The exact cause of esophageal cancer usually is not known, but both environmental and genetic factors are thought to play a role in its development. For example, variations or mutations in any of several genes may cause susceptibility to esophageal cancer.[3] Environmental factors that may increase a person's chance to develop esophageal cancer include tobacco use, heavy alcohol use, older age, obesity, and damage to the esophagus from acid reflux (Barrett esophagus).[1][2] The diagnosis may be based on imaging studies and tests such as chest X-ray, upper endoscopy, and a biopsy of tissue from the esophagus. Treatment options and the chance of recovery depend on the stage of the cancer, whether it can be surgically removed, and a person's general health. Treatment options may include surgery, radiation therapy, chemotherapy, laser therapy, and electrocoagulation. Other treatment options, such as targeted therapy, are being studied in clinical trials. When it is found very early, there is a better chance of recovery. When the cancer is more advanced, it can be treated but rarely can be cured.[2]


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:
Percent of people who have these symptoms is not available through HPO
Somatic mutation
Squamous cell carcinoma


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.


    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.


    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 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 was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • 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.
        • 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. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Esophageal cancer. Click on the link to view a sample search on this topic.


          1. Esophageal cancer. MedlinePlus. July 10, 2017; https://medlineplus.gov/ency/article/000283.htm.
          2. Esophageal Cancer Treatment (PDQ®)–Patient Version. National Cancer Institute (NCI). September 7, 2018; https://www.cancer.gov/types/esophageal/patient/esophageal-treatment-pdq.
          3. Esophageal cancer. Online Mendelian Inheritance of Man (OMIM). January 29, 2018; https://www.omim.org/entry/133239.