Rare Endocrinology News

Disease Profile

Subependymoma

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

Adult

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ICD-10

D43.2

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Subependymal astrocytoma (formerly)

Categories

Nervous System Diseases; Rare Cancers

Summary

Subependymomas are slow-growing brain tumors that are usually benign. They are most often found in the fourth or lateral ventricles in the brain, but may occur in the spine.[1][2] Symptoms depend on the tumor location.[3] Some people do not have symptoms, while others may have headaches, changes in vision, and/or difficulty with balance.[2] These symptoms are thought to be due to obstruction of cerebral spinal fluid (CSF) due to the tumor's location.[2] Most subependymomas are benign with a low recurrence rate. However, a few progress to anaplastic ependymoma (a faster growing tumor).[3] The cause of subependymomas is not well understood. Surgery to remove the tumor is often curative.[2]

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
100% of people have these symptoms
Ependymoma
0002888
30%-79% of people have these symptoms
Abnormal cell morphology
0025461
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

0002076
Pain
0012531
5%-29% of people have these symptoms
Distal muscle weakness
Weakness of outermost muscles
0002460
Dysesthesia
0012534
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Seizure
0001250
Spinal cord tumor
Tumor of the spinal cord
0010302
Supratentorial neoplasm
0030693
Vomiting
Throwing up
0002013
1%-4% of people have these symptoms
Neoplasm of the breast
Breast tumor
Tumours of the breast

[ more ]

0100013
Neoplasm of the liver
Liver cancer
Liver tumor

[ more ]

0002896
Neoplasm of the lung
Lung tumor
0100526
Ovarian neoplasm
Ovarian tumor
0100615
Percent of people who have these symptoms is not available through HPO
Astrocytoma
0009592
Autosomal dominant inheritance
0000006
Glioblastoma multiforme
0012174
Somatic mutation
0001428

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.

    Where to Start

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

        References

        1. Kieran MW. Ependymoma. UpToDate. Waltham, MA: UpToDate; December, 2016;
        2. Jain A, Amin AG, Jain P, Burger P, Jallo GI, Lim M, Bettegowda C. Subependymoma: clinical features and surgical outcomes. Neurol Res. September, 2012; 34(7):677-684.
        3. Bi Z, Ren X, Zhang J, Jia W. Clinical, radiological, and pathological features in 43 cases of intracranial subependymoma. J Neurosurg. January, 2015; 122(1):49-60. https://www.ncbi.nlm.nih.gov/pubmed/25361493.
        4. Kurian KM, Jones DT, Marsden F, Openshaw SW, Pearson DM, Ichimura K, Collins VP. Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases. Brain Pathol. October, 2008; 18(4):469-473.
        5. Converse PJ. GLIOMA SUSCEPTIBILITY 1; GLM1. OMIM. March, 2017; https://omim.org/entry/137800.

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