Rare Pulmonology News

Disease Profile

Gangliocytoma

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.

Unknown

Age of onset

-

ICD-10

D36.1

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Categories

Nervous System Diseases; Rare Cancers

Summary

Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, brainstem, floor of the third ventricle, and spinal cord. They are among the most frequent tumors associated with epilepsy. Signs and symptoms may depend on the tumor's location and may include seizures (most commonly); increased brain pressure; endocrine disorders; and focal symptoms. Gangliocytomas are generally slow-growing and usually do not become malignant. Treatment involves surgical removal of the tumor.[1][2]

Click here to view a separate page about dysplastic gangliocytoma of the cerebellum (also called Lhermitte-Duclose disease).

Symptoms

Signs and symptoms caused by the presence of a gangliocytoma can vary depending on the tumor's location. Seizures are the most common symptom. Other symptoms may include increased brain pressure, endocrine disorders, and focal symptoms.[1][2] Gangliocytomas can also be asymptomatic (cause no symptoms) and may be diagnosed incidentally on imaging studies.[3]

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
Ganglioneuroma
0003005
30%-79% of people have these symptoms
Headache
Headaches
0002315
Hemianopia
0012377
Spinal cord tumor
Tumor of the spinal cord
0010302
5%-29% of people have these symptoms
Abnormal prolactin level
0040086
Abnormality of brainstem morphology
Abnormal shape of brainstem
0002363
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Adrenocorticotropic hormone excess
0011749
Amenorrhea
Abnormal absence of menstruation
0000141
Decreased female libido
Decreased female sex drive
0030018
Distal muscle weakness
Weakness of outermost muscles
0002460
Focal-onset seizure
Seizure affecting one half of brain
0007359
Growth hormone excess
0000845
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]

0000975
Impotence
Difficulty getting a full erection
Difficulty getting an erection

[ more ]

0000802
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Pituitary null cell adenoma
0011761
Scoliosis
0002650
1%-4% of people have these symptoms
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly

[ more ]

0001317
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Excessive daytime somnolence
Excessive daytime sleepiness
More than typical sleepiness during day

[ more ]

0001262
Pituitary prolactin cell adenoma
0006767
Polyphagia
Voracious appetite
0002591
Syringomyelia
Fluid-filled cyst in spinal cord
0003396

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

    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.

    In-Depth Information

    • 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.
    • 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 Gangliocytoma. Click on the link to view a sample search on this topic.

      References

      1. Adesina A, Rauch R. Ganglioglioma and Gangliocytoma. Atlas of Pediatric Brain Tumors. Springer International Publishing; 2010;
      2. Türeyen K, Senol N, Sav A. Gangliocytoma associated with focal cortical dysplasia in a young-adult: a case report. Turk Neurosurg. July, 2008; 18(3):259-263.
      3. Jacob JT, Cohen-Gadol AA, Scheithauer BW, Krauss WE. Intramedullary spinal cord gangliocytoma: case report and a review of the literature. Neurosurg Rev. October, 2005; 28(4):326-329.
      4. Tumor Grading and Staging. American Brain Tumor Association. 2014; https://www.abta.org/brain-tumor-information/diagnosis/grading-staging.html.
      5. Jörg-Christian Tonn, Manfred Westphal, J. T. Rutka. Ganglioglioma and Gangliocytoma. Oncology of CNS Tumors: Second Edition. Springer; February, 2010; 196-198.

      Rare Pulmonology News