{"Name":"Sensorineural hearing loss-early graying-essential tremor syndrome","DiseaseID__c":"GARD:0018869","id":18869,"encodedName":"sensorineural-hearing-loss-early-graying-essential-tremor-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Sensorineural hearing loss-early graying-essential tremor syndrome","Xref_IDs__c":"C4510044; MEDGEN:1389497; MONDO:0019022; ORPHA:66633","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019022","Disease_Description__c":"A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.","GARD_Name__c":"Sensorineural hearing loss-early graying-essential tremor syndrome","GARD_Synonym__c":"sensorineural deafness-early graying-essential tremor syndrome; sensorineural hearing loss, early graying, essential tremor syndrome","Curated_Disease_Description_Source__c":"MONDO:0019022","Curated_Disease_Description__c":"A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:66633","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019022","ORPHANET_ID__c":"ORPHA:66633","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoacusia neurosensorial-aparición temprana de canas-temblor esencial","Spanish_Description_Source__c":"ORPHA:66633","Spanish_Description__c":"Es una enfermedad de base genética poco frecuente caracterizada por la tríada de inicio en el adulto formada por pérdida auditiva neurosensorial bilateral de moderada a grave, encanecimiento prematuro del cabello y temblor esencial que se manifiesta como sacudidas involuntarias de la cabeza. No se han descrito anomalías de pigmentación adicionales en este síndrome.","Spanish_Disease_Name__c":"síndrome de hipoacusia neurosensorial-aparición temprana de canas-temblor esencial","Spanish_GARD_Synonym__c":"síndrome de sordera neurosensorial-canicie precoz-temblor esencial","Category_Linearization__c":"ORPHA:98036","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 genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.","Curated_Disease_Description_Source__c":"MONDO:0019022","GARD_Synonym__c":"sensorineural deafness-early graying-essential tremor syndrome; sensorineural hearing loss, early graying, essential tremor syndrome","Name":"Sensorineural hearing loss-early graying-essential tremor syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Tremor Foundation","Website__c":"https://tremor.org.uk/"}],"GARD_Disease_Tag__c":[{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:66633"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1389497","Source__c":"C4510044","Xref__c":"MEDGEN:1389497"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4510044","Source__c":"C4510044","Xref__c":"C4510044"},{"URL__c":"https://www.orpha.net/en/disease/detail/66633","Source__c":"C4510044; MONDO:0019022; ORPHA:66633","Xref__c":"ORPHA:66633"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723721007","Source__c":"C4510044","Xref__c":"723721007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019022","Source__c":"GARD:0018869","Xref__c":"MONDO:0019022"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:66633","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66633","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66633","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Development of gray hair at a younger than normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002216","HPO_Synonym__c":"Early graying; Premature graying; Premature graying of hair; Premature hair graying","HPO_Name__c":"Premature graying of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66633","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66633","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal bluish coloration of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000592","HPO_Synonym__c":"Blue sclera; Bluish sclerae; Gray sclerae; Whites of eyes are a bluish-gray color","HPO_Name__c":"Blue sclerae","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Otolaryngology"]},"synonyms":["sensorineural deafness-early graying-essential tremor syndrome"," sensorineural hearing loss, early graying, essential tremor syndrome"]}