{"Name":"Schwannoma","DiseaseID__c":"GARD:0004767","id":4767,"encodedName":"schwannoma","IsDeleted":false,"Disease_Name_Full__c":"Schwannoma","Xref_IDs__c":"189948006; 404022001; 985004; C0027809; C3269; DOID:3192; DOID:955; HP:0100008; MEDGEN:45053; MONDO:0002546; ORPHA:252164","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0002546","Disease_Description__c":"A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.","GARD_Name__c":"Schwannoma","GARD_Synonym__c":"benign neurilemmoma; benign schwannoma; neurilemmoma; neurilemoma; neurinoma; neurolemmoma; peripheral fibroblastoma; psammomatous schwannoma; schwann cell tumor; schwann cell tumour; schwannoma (who grade i); schwannoma, benign; schwannomas","Curated_Disease_Description_Source__c":"GARD:0004767","Curated_Disease_Description__c":"Benign schwannoma is a tumor of the peripheral nervous system or nerve root. A Benign schwannoma develops from cells called Schwann cells, a type of cell that wraps itself around peripheral nerves and provides protection and support. Benign schwannomas are almost always benign (not cancerous), but rarely, may become cancerous (a malignant Schwannoma). Symptoms of a Benign schwannoma may be vague and will vary depending on its location and size, but may include a lump or bump that can be seen or felt, pain, muscle weakness, tingling, numbness, hearing problems, and/or facial paralysis. Sometimes Benign schwannomas do not cause any symptoms. Benign schwannomas usually develop in otherwise healthy people for unknown reasons. In some cases, a Benign schwannoma is caused by a genetic disorder such as neurofibromatosis 2 (NF2), Schwannomatosis, or Carney complex. People with these genetic disorders usually have more than one Benign schwannoma. Benign schwannomas may be diagnosed using imaging studies. A biopsy may confirm the diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:252164","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0002546","ORPHANET_ID__c":"ORPHA:252164","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Schwannoma benigno","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"schwannoma benigno","Spanish_GARD_Synonym__c":"fibroblastoma periférico; neurilemoma","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":"Benign schwannoma is a tumor of the peripheral nervous system or nerve root. A Benign schwannoma develops from cells called Schwann cells, a type of cell that wraps itself around peripheral nerves and provides protection and support. Benign schwannomas are almost always benign (not cancerous), but rarely, may become cancerous (a malignant Schwannoma). Symptoms of a Benign schwannoma may be vague and will vary depending on its location and size, but may include a lump or bump that can be seen or felt, pain, muscle weakness, tingling, numbness, hearing problems, and/or facial paralysis. Sometimes Benign schwannomas do not cause any symptoms. Benign schwannomas usually develop in otherwise healthy people for unknown reasons. In some cases, a Benign schwannoma is caused by a genetic disorder such as neurofibromatosis 2 (NF2), Schwannomatosis, or Carney complex. People with these genetic disorders usually have more than one Benign schwannoma. Benign schwannomas may be diagnosed using imaging studies. A biopsy may confirm the diagnosis.","Curated_Disease_Description_Source__c":"GARD:0004767","GARD_Synonym__c":"benign neurilemmoma; benign schwannoma; neurilemmoma; neurilemoma; neurinoma; neurolemmoma; peripheral fibroblastoma; psammomatous schwannoma; schwann cell tumor; schwann cell tumour; schwannoma (who grade i); schwannoma, benign; schwannomas","Name":"Schwannoma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Nerve Tumours UK","Website__c":"https://nervetumours.org.uk"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.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:252164"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:252164"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45053","Source__c":"C0027809","Xref__c":"MEDGEN:45053"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404022001","Source__c":"MONDO:0002546","Xref__c":"404022001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3269","Source__c":"C0027809; MONDO:0002546","Xref__c":"C3269"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027809","Source__c":"C0027809","Xref__c":"C0027809"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3192","Source__c":"MONDO:0002546","Xref__c":"DOID:3192"},{"URL__c":"https://www.orpha.net/en/disease/detail/252164","Source__c":"C0027809; MONDO:0002546; ORPHA:252164","Xref__c":"ORPHA:252164"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A955","Source__c":"MONDO:0002546","Xref__c":"DOID:955"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=985004","Source__c":"C0027809","Xref__c":"985004"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=189948006","Source__c":"C0027809","Xref__c":"189948006"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100008","Source__c":"C0027809","Xref__c":"HP:0100008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0002546","Source__c":"GARD:0004767","Xref__c":"MONDO:0002546"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009442","Source__c":"C0027809","Xref__c":"D009442"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009911","HPO_Synonym__c":"Abnormality of the temporal bone","HPO_Name__c":"Abnormal temporal bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000769","HPO_Synonym__c":"Abnormality of the breast","HPO_Name__c":"Abnormality of the breast","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002011","HPO_Synonym__c":"Abnormality of the central nervous system; Morphological abnormality of the central nervous system; Morphological abnormality of the CNS","HPO_Name__c":"Morphological central nervous system abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the calf bone (fibula), one of the two bones of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002991","HPO_Synonym__c":"Abnormality of fibula morphology; Abnormality of the calf bone","HPO_Name__c":"Abnormal fibula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000834","HPO_Synonym__c":"Adrenal abnormalities","HPO_Name__c":"Abnormality of the adrenal glands","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001600","HPO_Synonym__c":"Laryngeal abnormalities; Laryngeal anomalies","HPO_Name__c":"Abnormality of the larynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100582","HPO_Synonym__c":"Nasal polyps; Polyposis nasi; Polyps of nose","HPO_Name__c":"Nasal polyposis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a peripheral schwannoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009593","HPO_Name__c":"Peripheral schwannoma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A benign nerve sheath tumor composed of Schwann cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100008","HPO_Synonym__c":"Neurilemmoma; Neurinoma; Neurolemmoma; Schwann cell tumor","HPO_Name__c":"Schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100011","HPO_Name__c":"Scleral schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100697","HPO_Synonym__c":"Malignant peripheral nerve sheath tumor; Malignant schwannoma; Neurosarcoma","HPO_Name__c":"Neurofibrosarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000364","HPO_Synonym__c":"Abnormal hearing; Hearing abnormality","HPO_Name__c":"Hearing abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple polyps in the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200008","HPO_Synonym__c":"Multiple intestinal polyps","HPO_Name__c":"Intestinal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the twelfth cranial nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010826","HPO_Synonym__c":"Abnormality of cranial nerve 12; Abnormality of cranial nerve xii; Abnormality of the hypoglossal nerve","HPO_Name__c":"Abnormality of the twelfth cranial nerve","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003489","HPO_Name__c":"Acute episodes of neuropathic symptoms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001291","HPO_Synonym__c":"Abnormality of cranial nerve; Abnormality of the cranial nerves; Cranial nerve disease; Cranial nerve involvement","HPO_Name__c":"Abnormal cranial nerve morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030177","HPO_Synonym__c":"Abnormal nerve conduction study","HPO_Name__c":"Abnormality of peripheral nervous system electrophysiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252164","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. 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