{"Name":"Subependymal glioma","DiseaseID__c":"GARD:0010070","id":10070,"encodedName":"subependymal-glioma","IsDeleted":false,"Disease_Name_Full__c":"Subependymal glioma","Xref_IDs__c":"4553004; C0206725; C3795; D018315; DOID:4843; MEDGEN:64637; MONDO:0007667; ORPHA:251639","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007667","Disease_Description__c":"Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.","GARD_Name__c":"Subependymal glioma","GARD_Synonym__c":"mixed subependymoma-ependymoma; subependymal astrocytoma; subependymoma; subependymoma, benign; who grade i ependymal neoplasm; who grade i ependymal tumor; who grade i ependymal tumour","Curated_Disease_Description_Source__c":"GARD:0010070","Curated_Disease_Description__c":"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. Symptoms depend on the tumor location. Some people do not have symptoms, while others may have headaches, changes in vision, and/or difficulty with balance. These symptoms are thought to be due to obstruction of cerebral spinal fluid (CSF) due to the tumor's location. Most Subependymomas are benign with a low recurrence rate. However, a few progress to anaplastic ependymoma (a faster growing tumor). The cause of Subependymomas is not well understood. Surgery to remove the tumor is often curative.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:251639","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007667","ORPHANET_ID__c":"ORPHA:251639","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Subependimoma","Spanish_Description_Source__c":"ORPHA:251639","Spanish_Description__c":"El subependimoma es un tipo poco frecuente y de crecimiento lento de ependimoma (consulte este término), que se presenta a menudo en adultos de mediana edad, más frecuente en varones que en mujeres. Suele estar localizado en en cuarto ventrículo y en los ventrículos laterales. Se manifiesta con síntomas variables que incluyen dolor de cabeza, náuseas y pérdida de equilibrio. En algunos casos puede ser asintomático. Suele estar asociado con un diagnóstico más favorable que el de otras formas de ependimoma.","Spanish_Disease_Name__c":"subependimoma","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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. Symptoms depend on the tumor location. Some people do not have symptoms, while others may have headaches, changes in vision, and/or difficulty with balance. These symptoms are thought to be due to obstruction of cerebral spinal fluid (CSF) due to the tumor's location. Most Subependymomas are benign with a low recurrence rate. However, a few progress to anaplastic ependymoma (a faster growing tumor). The cause of Subependymomas is not well understood. Surgery to remove the tumor is often curative.","Curated_Disease_Description_Source__c":"GARD:0010070","GARD_Synonym__c":"mixed subependymoma-ependymoma; subependymal astrocytoma; subependymoma; subependymoma, benign; who grade i ependymal neoplasm; who grade i ependymal tumor; who grade i ependymal tumour","Name":"Subependymal glioma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.org/"},{"Account_Name__c":"National Brain Tumor Society","Website__c":"https://braintumor.org/"},{"Account_Name__c":"International Brain Tumour Alliance","Website__c":"https://theibta.org/"},{"Account_Name__c":"CERN Foundation","Website__c":"https://www.cern-foundation.org/"},{"Account_Name__c":"Collaborative Ependymoma Research Network","Website__c":"https://cern-foundation.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:251639"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0206725"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3795","Source__c":"C0206725; MONDO:0007667","Xref__c":"C3795"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0206725","Source__c":"C0206725","Xref__c":"C0206725"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4843","Source__c":"MONDO:0007667","Xref__c":"DOID:4843"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=64637","Source__c":"C0206725","Xref__c":"MEDGEN:64637"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018315","Source__c":"C0206725; MONDO:0007667","Xref__c":"D018315"},{"URL__c":"https://www.orpha.net/en/disease/detail/251639","Source__c":"C0206725; MONDO:0007667; ORPHA:251639","Xref__c":"ORPHA:251639"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=4553004","Source__c":"C0206725","Xref__c":"4553004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007667","Source__c":"GARD:0010070","Xref__c":"MONDO:0007667"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002896","HPO_Synonym__c":"Liver cancer; Liver tumor","HPO_Name__c":"Neoplasm of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012534","HPO_Synonym__c":"Dysaesthesia; Hyperalgesia; Hyperpathia","HPO_Name__c":"Dysesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly of cell structure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025461","HPO_Name__c":"Abnormal cell morphology","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Tumor of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100526","HPO_Synonym__c":"Lung tumor","HPO_Name__c":"Neoplasm of the lung","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neoplasm affecting the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010302","HPO_Synonym__c":"Spinal cord tumor; Tumor of the spinal cord","HPO_Name__c":"Spinal cord tumor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100013","HPO_Synonym__c":"Breast tumor; Tumours of the breast","HPO_Name__c":"Neoplasm of the breast","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100615","HPO_Synonym__c":"Neoplasm of the ovaries; Neoplasm of the ovary; Ovarian tumor","HPO_Name__c":"Ovarian neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The presence of an ependymoma of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002888","HPO_Name__c":"Ependymoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251639","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030693","HPO_Synonym__c":"Pineal parenchymal tumor","HPO_Name__c":"Supratentorial neoplasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology"],"Disease Category":["Cancer","Neurology"]},"synonyms":["mixed subependymoma-ependymoma"," subependymal astrocytoma"," subependymoma"," subependymoma, benign"," who grade i ependymal neoplasm"," who grade i ependymal tumor"," who grade i ependymal tumour"]}