{"Name":"Myxopapillary ependymoma","DiseaseID__c":"GARD:0010633","id":10633,"encodedName":"myxopapillary-ependymoma","IsDeleted":false,"Disease_Name_Full__c":"Myxopapillary ependymoma","Xref_IDs__c":"1623000; C0205769; C3697; DOID:5075; MEDGEN:104717; MONDO:0016699; ORPHA:251643","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0016699","Disease_Description__c":"Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.","GARD_Name__c":"Myxopapillary ependymoma","GARD_Synonym__c":"ependymoma, benign; myxopapillary ependymoma (morphologic abnormality)","Curated_Disease_Description_Source__c":"GARD:0010633","Curated_Disease_Description__c":"Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain and spinal cord). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. Symptoms of an ependymoma are related to the location and size of the tumor and may include nausea, vomiting, headache, pain, numbness, bowel or bladder symptoms, and various other signs and symptoms. The cause of ependymomas is unknown. They are known to recur locally (more commonly in individuals diagnosed in childhood).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:251643","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016699","ORPHANET_ID__c":"ORPHA:251643","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ependimoma mixopapilar","Spanish_Description_Source__c":"ORPHA:251643","Spanish_Description__c":"El ependimoma mixopapilar (MEPN) es un ependimoma de crecimiento lento (consulte este término) localizado casi exclusivamente en el cono medular, cauda equina y filum terminale de la médula espinal. Se presenta en todos los grupos de edad, manifestándose con síntomas variables tales como dolor de cuello, vómitos y marcha inestable y metástasis. El curso de la enfermedad es más agresivo y ha sido descrito en población pediátrica.","Spanish_Disease_Name__c":"ependimoma mixopapilar","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":"Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain and spinal cord). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. Symptoms of an ependymoma are related to the location and size of the tumor and may include nausea, vomiting, headache, pain, numbness, bowel or bladder symptoms, and various other signs and symptoms. The cause of ependymomas is unknown. They are known to recur locally (more commonly in individuals diagnosed in childhood).","Curated_Disease_Description_Source__c":"GARD:0010633","GARD_Synonym__c":"ependymoma, benign; myxopapillary ependymoma (morphologic abnormality)","Name":"Myxopapillary ependymoma","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":"Children's Tumor Foundation","Website__c":"https://www.ctf.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":"Pediatric Brain Tumor Foundation","Website__c":"https://www.curethekids.org/"},{"Account_Name__c":"Children's Brain Tumor Foundation","Website__c":"https://cbtf.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:251643"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:251643"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:251643"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=104717","Source__c":"C0205769","Xref__c":"MEDGEN:104717"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3697","Source__c":"C0205769; MONDO:0016699","Xref__c":"C3697"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0205769","Source__c":"C0205769","Xref__c":"C0205769"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5075","Source__c":"MONDO:0016699","Xref__c":"DOID:5075"},{"URL__c":"https://www.orpha.net/en/disease/detail/251643","Source__c":"C0205769; MONDO:0016699; ORPHA:251643","Xref__c":"ORPHA:251643"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1623000","Source__c":"C0205769","Xref__c":"1623000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016699","Source__c":"GARD:0010633","Xref__c":"MONDO:0016699"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:251643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005341","HPO_Name__c":"Autonomic bladder dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251643","HPO_Frequency__c":"Frequent (30-79%)","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:251643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251643","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the sacral bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005107","HPO_Synonym__c":"Abnormality of the sacrum","HPO_Name__c":"Abnormal sacrum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251643","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:251643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030833","HPO_Synonym__c":"Neck pain","HPO_Name__c":"Neck pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neoplasm of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100006","HPO_Synonym__c":"Neoplasm of the CNS; Tumors of the central nervous system","HPO_Name__c":"Neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251643","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031938","HPO_Synonym__c":"Abnormal conus medullaris morphology","HPO_Name__c":"Abnormal conus terminalis morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012700","HPO_Name__c":"Abnormal large intestine physiology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251643","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the external acoustic tube (also known as the auditory canal).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000372","HPO_Synonym__c":"Abnormality of the auditory canal; Auditory canal abnormality","HPO_Name__c":"Abnormal auditory canal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251643","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["ependymoma, benign"," myxopapillary ependymoma (morphologic abnormality)"]}