{"Name":"Dermoid or epidermoid cyst of the central nervous system","DiseaseID__c":"GARD:0022206","id":22206,"encodedName":"dermoid-or-epidermoid-cyst-of-the-central-nervous-system","IsDeleted":false,"Disease_Name_Full__c":"Dermoid or epidermoid cyst of the central nervous system","Xref_IDs__c":"C5680190; MEDGEN:1842182; MONDO:0035159; ORPHA:530033","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0035159","Disease_Description__c":"A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.","GARD_Name__c":"Dermoid or epidermoid cyst of the central nervous system","GARD_Synonym__c":"dermoid or epidermoid cyst of the cns","Curated_Disease_Description_Source__c":"MONDO:0035159","Curated_Disease_Description__c":"A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:530033","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035159","ORPHANET_ID__c":"ORPHA:530033","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Quiste dermoide o epidermoide del sistema nervioso central","Spanish_Description_Source__c":"ORPHA:530033","Spanish_Description__c":"Es un tumor congénito poco frecuente caracterizado por un quiste benigno compuesto por componentes epiteliales y epidermoides, que se origina por el desplazamiento embrionario y el crecimiento ectópico de tejido ectodérmico en el sistema nervioso central. A diferencia de los quistes epidermoides, los quistes dermoides también contienen dermis y apéndices cutáneos. La localización más frecuente es la región lumbosacra, así como el ángulo pontocerebeloso y el área paraselar en las lesiones intracraneales. La presentación clínica depende de la localización y del tamaño del tumor e incluye dolor, debilidad muscular, alteraciones sensitivo-motoras e incontinencia derivadas de las lesiones intraespinales e hipertensión intracraneal, trastornos de la marcha, disfunción de los pares craneales y afectación visual causada por los tumores intracraneales. Los quistes pueden romperse, causando meningitis química.","Spanish_Disease_Name__c":"quiste dermoide o epidermoide del sistema nervioso central","Spanish_GARD_Synonym__c":"quiste dermoide o epidermoide del snc","Category_Linearization__c":"ORPHA:93890","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":"A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.","Curated_Disease_Description_Source__c":"MONDO:0035159","GARD_Synonym__c":"dermoid or epidermoid cyst of the cns","Name":"Dermoid or epidermoid cyst of the central nervous system","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:530033"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1842182","Source__c":"C5680190","Xref__c":"MEDGEN:1842182"},{"URL__c":"https://www.orpha.net/en/disease/detail/530033","Source__c":"C5680190; MONDO:0035159; ORPHA:530033","Xref__c":"ORPHA:530033"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680190","Source__c":"C5680190","Xref__c":"C5680190"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035159","Source__c":"GARD:0022206","Xref__c":"MONDO:0035159"}],"tags":{"Disease Category":["Cancer","Genetics","Neurology","Congenital Abnormality"],"Cause":["Genetics"],"Specialist":["Genetics","Neurology"]},"synonyms":["dermoid or epidermoid cyst of the cns"]}