{"Name":"Esthesioneuroblastoma","DiseaseID__c":"GARD:0002197","id":2197,"encodedName":"esthesioneuroblastoma","IsDeleted":false,"Disease_Name_Full__c":"Esthesioneuroblastoma","Xref_IDs__c":"422886007; 423022156; C0206717; MEDGEN:60217; MONDO:0016029; ORPHA:1957","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":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016029","Disease_Description__c":"Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.","GARD_Name__c":"Esthesioneuroblastoma","GARD_Synonym__c":"asthesioneuroblastoma; esthesioneuroepithelioma; olfactory esthesioneuroblastoma; olfactory neuroepithelioma","Curated_Disease_Description_Source__c":"GARD:0002197","Curated_Disease_Description__c":"Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It accounts for about 5% of all cancers of the nasal cavity and paranasal sinuses. It develops in nerve tissue associated with the sense of smell (olfactory nerve). It can occur at any age, but typically is found in adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:1957","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016029","ORPHANET_ID__c":"ORPHA:1957","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Estesioneuroblastoma","Spanish_Description_Source__c":"ORPHA:1957","Spanish_Description__c":"El esterineuroblastoma (ENB) es un tumor raro maligno de la cavidad nasal, que se origina a partir de las capas basales de las células olfatorias neuroepiteliales de la cavidad nasal. Por lo general se presenta entre la quinta y la sexta década de vida y se caracteriza clínicamente por síntomas inespecíficos tales como obstrucción nasal ipsilateral progresiva sinusitis, dolor facial, dolores de cabeza intermitentes, hiposmia/disosmia, rinorrea y epistaxis así como proptosis, diplopía y abundante lagrimeo debido a la extensión orbital. Con un tratamiento temprano y en ausencia de metástasis a distancia, el ENB parece tener un buen pronóstico (comparado con otras neoplasias nasales superiores) a pesar de la elevada tasa de metástasis cervicales.","Spanish_Disease_Name__c":"estesioneuroblastoma","Spanish_GARD_Synonym__c":"neuroblastoma olfativo","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":"Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It accounts for about 5% of all cancers of the nasal cavity and paranasal sinuses. It develops in nerve tissue associated with the sense of smell (olfactory nerve). It can occur at any age, but typically is found in adulthood.","Curated_Disease_Description_Source__c":"GARD:0002197","GARD_Synonym__c":"asthesioneuroblastoma; esthesioneuroepithelioma; olfactory esthesioneuroblastoma; olfactory neuroepithelioma","Name":"Esthesioneuroblastoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.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":"Elderly","Provided_By__c":"ORPHA:1957"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1957"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1957","Source__c":"C0206717; MONDO:0016029; ORPHA:1957","Xref__c":"ORPHA:1957"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=422886007","Source__c":"C0206717; MONDO:0016029","Xref__c":"422886007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=60217","Source__c":"C0206717","Xref__c":"MEDGEN:60217"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0206717","Source__c":"C0206717","Xref__c":"C0206717"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030068","Source__c":"C0206717","Xref__c":"HP:0030068"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=76060004","Source__c":"C0206717","Xref__c":"76060004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018304","Source__c":"C0206717","Xref__c":"D018304"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3789","Source__c":"C0206717","Xref__c":"C3789"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=68614005","Source__c":"C0206717","Xref__c":"68614005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016029","Source__c":"GARD:0002197","Xref__c":"MONDO:0016029"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022156","Xref__c":"423022156"},{"URL__c":"https://www.cancer.gov/types/head-and-neck"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6016","Source__c":"C0206717","Xref__c":"C6016"}],"tags":{"Specialist":["Cancer - Oncologist","Neurology"],"Disease Category":["Cancer","Neurology"]},"synonyms":["asthesioneuroblastoma"," esthesioneuroepithelioma"," olfactory esthesioneuroblastoma"," olfactory neuroepithelioma"]}