{"Name":"Autosomal recessive nonsyndromic hearing loss 1A","DiseaseID__c":"GARD:0001697","id":1697,"encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-1a","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive nonsyndromic hearing loss 1A","Xref_IDs__c":"C129022; C2673759; C567134; DOID:0110475; MEDGEN:388720; MONDO:0009076; OMIM:220290","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009076","Disease_Description__c":"An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.","GARD_Name__c":"Autosomal recessive nonsyndromic hearing loss 1A","GARD_Synonym__c":"connexin 26 deafness; deafness nonsyndromic, connexin 26 linked; deafness, autosomal recessive 1a; deafness, digenic gjb2/gjb6, autosomal recessive, digenic dominant; deafness, digenic, gjb2/gjb3, autosomal recessive, digenic dominant; dfnb 1 nonsyndromic hearing loss and deafness; dfnb1a; gjb2-related autosomal recessive nonsyndromic hearing loss; gjb6-related dfnb 1 nonsyndromic hearing loss and deafness; nonsyndromic hearing loss and deafness, dfnb1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Deafness, autosomal recessive 1a is a type of hearing loss that is caused by changes in a gene called GJB2. When there are changes in both copies of the GJB2 gene, it can lead to deafness. Other subtypes of autosomal recessive deafness are caused by changes in different genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:220290","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009076","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Deafness, autosomal recessive 1a is a type of hearing loss that is caused by changes in a gene called GJB2. When there are changes in both copies of the GJB2 gene, it can lead to deafness. Other subtypes of autosomal recessive deafness are caused by changes in different genes.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"connexin 26 deafness; deafness nonsyndromic, connexin 26 linked; deafness, autosomal recessive 1a; deafness, digenic gjb2/gjb6, autosomal recessive, digenic dominant; deafness, digenic, gjb2/gjb3, autosomal recessive, digenic dominant; dfnb 1 nonsyndromic hearing loss and deafness; dfnb1a; gjb2-related autosomal recessive nonsyndromic hearing loss; gjb6-related dfnb 1 nonsyndromic hearing loss and deafness; nonsyndromic hearing loss and deafness, dfnb1","Name":"Autosomal recessive nonsyndromic hearing loss 1A","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hearing Health Foundation","Website__c":"https://hearinghealthfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001697","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1272","Source__c":"Gene Review","Xref__c":"NBK1272"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1434","Xref__c":"NBK1434"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673759","Source__c":"C2673759","Xref__c":"C2673759"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567134","Source__c":"MONDO:0009076","Xref__c":"C567134"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129022","Source__c":"C2673759; MONDO:0009076","Xref__c":"C129022"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110475","Source__c":"MONDO:0009076","Xref__c":"DOID:0110475"},{"URL__c":"https://www.omim.org/entry/220290","Source__c":"C2673759; MONDO:0009076","Xref__c":"OMIM:220290"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=388720","Source__c":"C2673759","Xref__c":"MEDGEN:388720"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009076","Source__c":"GARD:0001697","Xref__c":"MONDO:0009076"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJB6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GJB2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GJB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Digenic"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:220290","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the functioning of the vestibular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001751","HPO_Synonym__c":"Impaired vestibular function; Interictal vestibular dysfunction; Vestibular function defect","HPO_Name__c":"Abnormal vestibular function","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:220290","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"}}],"tags":{},"synonyms":["connexin 26 deafness"," deafness nonsyndromic, connexin 26 linked"," deafness, autosomal recessive 1a"," deafness, digenic gjb2/gjb6, autosomal recessive, digenic dominant"," deafness, digenic, gjb2/gjb3, autosomal recessive, digenic dominant"," dfnb 1 nonsyndromic hearing loss and deafness"," dfnb1a"," gjb2-related autosomal recessive nonsyndromic hearing loss"," gjb6-related dfnb 1 nonsyndromic hearing loss and deafness"," nonsyndromic hearing loss and deafness, dfnb1"]}