{"Name":"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome","DiseaseID__c":"GARD:0017145","id":17145,"encodedName":"progressive-sensorineural-hearing-loss-hypertrophic-cardiomyopathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome","Xref_IDs__c":"C4304831; MEDGEN:930500; MONDO:0016424; ORPHA:228012","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016424","Disease_Description__c":"A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.","GARD_Name__c":"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome","GARD_Synonym__c":"deafness with hypertrophic cardiomyopathy, autosomal dominant, type 22; progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome; progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome; progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome; progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome; progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome","Curated_Disease_Description_Source__c":"MONDO:0016424","Curated_Disease_Description__c":"A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.","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:228012","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016424","ORPHANET_ID__c":"ORPHA:228012","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoacusia neurosensorial progresiva-miocardiopatía hipertrófica","Spanish_Description_Source__c":"ORPHA:228012","Spanish_Description__c":"Es un trastorno poco frecuente caracterizado por hipoacusia neurosensorial autosómica dominante, progresiva, de aparición tardía, con prolongación del intervalo QT e hipertrofia cardiaca leve.","Spanish_Disease_Name__c":"síndrome de hipoacusia neurosensorial progresiva-miocardiopatía hipertrófica","Spanish_GARD_Synonym__c":"síndrome de hipoacusia neurosensorial progresiva-cardiomiopatía hipertrófica; síndrome de sordera neurosensorial progresiva-cardiomiopatía hipertrófica","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 disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.","Curated_Disease_Description_Source__c":"MONDO:0016424","GARD_Synonym__c":"deafness with hypertrophic cardiomyopathy, autosomal dominant, type 22; progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome; progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome; progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome; progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome; progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome","Name":"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hearing Loss Association of America","Website__c":"https://www.hearingloss.org/"}],"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":"Cardiology","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"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:228012"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1434","Source__c":"Gene Review","Xref__c":"NBK1434"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930500","Source__c":"C4304831","Xref__c":"MEDGEN:930500"},{"URL__c":"https://www.orpha.net/en/disease/detail/228012","Source__c":"C4304831; MONDO:0016424; ORPHA:228012","Xref__c":"ORPHA:228012"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304831","Source__c":"C4304831","Xref__c":"C4304831"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719272007","Source__c":"C4304831","Xref__c":"719272007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016424","Source__c":"GARD:0017145","Xref__c":"MONDO:0016424"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYO6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Otolaryngology","Clinical Cardiac Electrophysiology","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["deafness with hypertrophic cardiomyopathy, autosomal dominant, type 22"," progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome"," progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome"," progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome"," progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome"," progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome"]}