Rare Neurology News

Disease Profile


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.

1-5 / 10 000

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)



Nervous System Diseases; Rare Cancers


Neuroblastoma is a tumor that develops from neuroblasts (immature nerve tissue) in an infant or child, usually before the age of 5. It most often develops in infancy and may be diagnosed in the first month of life. The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes).[1] In most cases, it has spread by the time it is diagnosed.[2] A neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms.[1][2]

The cause of most neuroblastomas is not known. Rarely, a neuroblastoma is caused by an inherited mutation in a gene, such as the ALK gene or PHOX2B gene.[3] Diagnosing a neuroblastoma may rely on a physical examination, blood tests, imaging tests (such as MRI or CT scan) and ultimately, a biopsy.[1][2] Treatment depends on the size and location of the tumor within the body, as well as the child’s age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases.[2] In some children the tumor goes away without treatment.[1] While the long-term outlook and chance of survival depends on many factors, the 5-year survival rate ranges from 40-50% in some, to over 95% in others. The child's doctor is in the best position to provide personalized information about the outlook in each case.[4]


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:
80%-99% of people have these symptoms
Elevated urinary catecholamines
Neoplasm of the nervous system
Tumor of the nervous system
Percent of people who have these symptoms is not available through HPO
Abdominal mass
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

Abnormal thorax morphology
Abnormality of the chest
Low number of red blood cells or hemoglobin
Autosomal dominant inheritance
Bone pain
Watery stool
Elevated urinary dopamine
Elevated urinary homovanillic acid
Elevated urinary vanillylmandelic acid
Failure to thrive
Faltering weight
Weight faltering

[ more ]

Horner syndrome
Incomplete penetrance
Cancer of early nerve cells
Skin nodule
Somatic mutation
Spinal cord compression
Pressure on spinal cord
No previous family history
Weight loss


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.

    • Iobenguane I 123(Brand name: Adreview™) Manufactured by GE Healthcare, Inc
      FDA-approved indication: To be used in the detection of primary or metastatic pheochromocytomas or neuroblastomas as an adjunct to other diagnostic tests
      National Library of Medicine Drug Information Portal
    • dinutuximab(Brand name: Unituxin) Manufactured by United Therapeutics Corporation
      FDA-approved indication: For use in combination with granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin-2 (IL-2) and 13-cis-retinoic acid (RA), for the treatment of pediatric patients with high-risk neuroblastoma who achieve at least a partial response to prior first-line multiagent, multimodality therapy
      National Library of Medicine Drug Information Portal


    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 American Cancer Society provides a detailed overview of neuroblastoma. Click on the link above to access this information.
        • The Children's Neuroblastoma Cancer Foundation provides information about neuroblastoma through a Parent Handbook. Click on the link above to access an online version of the Handbook.
        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Neuroblastoma. This website is maintained by the National Library of Medicine.
        • 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. 
          • 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 Neuroblastoma. Click on the link to view a sample search on this topic.

            Selected Full-Text Journal Articles


              1. National Cancer Institute. Neuroblastoma Treatment (PDQ®)–Patient Version: General Information about Neuroblastoma. National Cancer Institute (NCI). September 18, 2018; https://www.cancer.gov/cancertopics/pdq/treatment/neuroblastoma/patient/.
              2. MedlinePlus. Neuroblastoma. November 10, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/001408.htm.
              3. What Causes Neuroblastoma?. American Cancer Society. March 19, 2018; https://www.cancer.org/cancer/neuroblastoma/causes-risks-prevention/what-causes.html.
              4. Neuroblastoma Survival Rates by Risk Group. American Cancer Society. March 19, 2018; https://www.cancer.org/cancer/neuroblastoma/detection-diagnosis-staging/survival-rates.html.