Rare Endocrinology News
Disease Profile
Neuroblastoma
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
Age of onset
Childhood
ICD-10
C74.9
Inheritance
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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)
NB
Categories
Nervous System Diseases; Rare Cancers
Summary
Neuroblastoma is a
The cause of most neuroblastomas is not known. Rarely, a neuroblastoma is caused by an
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Elevated urinary catecholamines | 0011976 | |
Tumor of the nervous system
|
0004375 | |
Percent of people who have these symptoms is not available through HPO | ||
Abdominal mass | 0031500 | |
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Abnormal thorax morphology |
Abnormality of the chest
|
0000765 |
Low number of red blood cells or hemoglobin
|
0001903 | |
0001251 | ||
0000006 | ||
Bone pain | 0002653 | |
Diarrhea |
Watery stool
|
0002014 |
Elevated urinary dopamine | 0011979 | |
Elevated urinary homovanillic acid | 0011977 | |
Elevated urinary vanillylmandelic acid | 0011978 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fever | 0001945 | |
Ganglioneuroblastoma | 0006747 | |
Ganglioneuroma | 0003005 | |
Horner |
0002277 | |
0000822 | ||
0003829 | ||
Myoclonus | 0001336 | |
Neuroblastoma |
Cancer of early nerve cells
|
0003006 |
Opsoclonus | 0010543 | |
Skin nodule | 0200036 | |
0001428 | ||
Spinal cord compression |
Pressure on spinal cord
|
0002176 |
Sporadic |
No previous family history
|
0003745 |
Weight loss | 0001824 |
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.
Treatment
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-macrophagecolony-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
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include nephroblastoma, which makes it necessary to systematically check urinary catecholamines in case of an abdominal tumor. Bone pain and limp can be interpreted as synovitis of the hip. Possible bilateral peri-orbital hematomas, caused by orbital metastases, should not lead to a diagnosis of maltreatment.
Visit the Orphanet disease page for more information.
|
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
-
Children's Neuroblastoma Cancer Foundation
P.O. Box 6635
Bloomingdale, IL 60108
Telephone: 866-671-2623
Fax: 630-351-2462
E-mail: [email protected]
Website: https://www.cncfhope.org/
Organizations Providing General Support
-
American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org
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
- Carén H, Fransson S, Ejeskar K, Kogner P, Martinsson T. Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours. Br J Cancer. 2007 Nov 19;97(10):1416-24.
References
- 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/.
- MedlinePlus. Neuroblastoma. November 10, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/001408.htm.
- What Causes Neuroblastoma?. American Cancer Society. March 19, 2018; https://www.cancer.org/cancer/neuroblastoma/causes-risks-prevention/what-causes.html.
- Neuroblastoma Survival Rates by Risk Group. American Cancer Society. March 19, 2018; https://www.cancer.org/cancer/neuroblastoma/detection-diagnosis-staging/survival-rates.html.