The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Ganglioneuroma | Very frequent (present in 80%-99% of cases) |
| Headache | Frequent (present in 30%-79% of cases) |
| Hemianopia | Frequent (present in 30%-79% of cases) |
| Spinal cord tumor | Frequent (present in 30%-79% of cases) |
| Abnormal prolactin level | Occasional (present in 5%-29% of cases) |
| Abnormality of brainstem morphology | Occasional (present in 5%-29% of cases) |
| Accelerated skeletal maturation | Occasional (present in 5%-29% of cases) |
| Adrenocorticotropic |
Occasional (present in 5%-29% of cases) |
| Amenorrhea | Occasional (present in 5%-29% of cases) |
| Decreased female libido | Occasional (present in 5%-29% of cases) |
| Distal muscle weakness | Occasional (present in 5%-29% of cases) |
| Focal seizures | Occasional (present in 5%-29% of cases) |
| Growth hormone excess | Occasional (present in 5%-29% of cases) |
| Hyperhidrosis | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Paresthesia | Occasional (present in 5%-29% of cases) |
| Pituitary null |
Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Abnormality of the cerebellum | Very rare (present in 1%-4% of cases) |
| Very rare (present in 1%-4% of cases) |
|
| Excessive daytime somnolence | Very rare (present in 1%-4% of cases) |
| Pituitary prolactin cell adenoma | Very rare (present in 1%-4% of cases) |
| Polyphagia | Very rare (present in 1%-4% of cases) |
| Syringomyelia | Very rare (present in 1%-4% of cases) |
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Overcoming Barriers to International Clinical Trials for Rare Cancers
Friday, December 10, 2010
Location:
Bethesda,
Maryland
Description: The goals of this conference were to introduce key institutional players to the topic of international clinical trials in rare cancers and to establish an ongoing dialogue. Participants left the meeting with a set of specific priorities that need to be enacted to promote these trials. The meeting promoted consensus on the way that resources are prioritized to address rare cancers. Participants were asked to convey the content of the meeting to their constituencies and to follow up with pilot concepts.
Contact: Jack Welch, M.D., Ph.D., jack.welch@nih.govjack.welch@nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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My daughter was diagnosed with a primary intramedullary spinal cord tumor. She had surgery to remove the tumor. They could only manage partial debulking of the tumor. The histopathology report revealed it is a rare tumor called gangliocytoma. There is little information about this tumor anywhere and I was hoping you could provide information. See answer
