{"Name":"Autosomal dominant nonsyndromic hearing loss 2A","DiseaseID__c":"GARD:0018099","id":18099,"encodedName":"autosomal-dominant-nonsyndromic-hearing-loss-2a","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant nonsyndromic hearing loss 2A","Xref_IDs__c":"C2677637; C567441; DOID:0110558; MEDGEN:436997; MONDO:0010817; OMIM:600101","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:0010817","Disease_Description__c":"Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.","GARD_Name__c":"Autosomal dominant nonsyndromic hearing loss 2A","GARD_Synonym__c":"autosomal dominant nonsyndromic deafness 2a; deafness, autosomal dominant 2a; dfna 2 nonsyndromic hearing loss; dfna2 nonsyndromic hearing loss","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Autosomal dominant deafness 2A (DFNA2A) is a genetic condition that affects hearing. It is characterized by high-frequency hearing loss. This means high-pitched sounds are harder to hear. Over time, the condition causes loss of hearing across all frequencies (low- and high-pitched sounds). The impairment is often detected during routine hearing assessments of children. But, it is likely present from birth. Older people experience moderate hearing loss in lower frequencies. They also experience severe hearing loss in high frequencies. Most individuals with DFNA2A will need hearing aids between the ages of 10 and 40. By the age of 70, they typically have severe to profound hearing impairment. DFNA2A is caused by a mutation in the KCNQ4 gene. It is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:600101","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010817","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":"Autosomal dominant deafness 2A (DFNA2A) is a genetic condition that affects hearing. It is characterized by high-frequency hearing loss. This means high-pitched sounds are harder to hear. Over time, the condition causes loss of hearing across all frequencies (low- and high-pitched sounds). The impairment is often detected during routine hearing assessments of children. But, it is likely present from birth. Older people experience moderate hearing loss in lower frequencies. They also experience severe hearing loss in high frequencies. Most individuals with DFNA2A will need hearing aids between the ages of 10 and 40. By the age of 70, they typically have severe to profound hearing impairment. DFNA2A is caused by a mutation in the KCNQ4 gene. It is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"autosomal dominant nonsyndromic deafness 2a; deafness, autosomal dominant 2a; dfna 2 nonsyndromic hearing loss; dfna2 nonsyndromic hearing loss","Name":"Autosomal dominant nonsyndromic hearing loss 2A","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1434","Xref__c":"NBK1434"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1209","Source__c":"Gene Review","Xref__c":"NBK1209"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436997","Source__c":"C2677637","Xref__c":"MEDGEN:436997"},{"URL__c":"https://www.omim.org/entry/600101","Source__c":"C2677637; MONDO:0010817","Xref__c":"OMIM:600101"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2677637","Source__c":"C2677637","Xref__c":"C2677637"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567441","Source__c":"MONDO:0010817","Xref__c":"C567441"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110558","Source__c":"MONDO:0010817","Xref__c":"DOID:0110558"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010817","Source__c":"GARD:0018099","Xref__c":"MONDO:0010817"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNQ4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600101","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600101","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["autosomal dominant nonsyndromic deafness 2a"," deafness, autosomal dominant 2a"," dfna 2 nonsyndromic hearing loss"," dfna2 nonsyndromic hearing loss"]}