{"Name":"Autosomal recessive nonsyndromic hearing loss 9","DiseaseID__c":"GARD:0022588","id":22588,"encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-9","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive nonsyndromic hearing loss 9","Xref_IDs__c":"C1832828; DOID:0110535; MEDGEN:331376; MONDO:0010986; OMIM:601071","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:0010986","Disease_Description__c":"Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.","GARD_Name__c":"Autosomal recessive nonsyndromic hearing loss 9","GARD_Synonym__c":"auditory neuropathy, autosomal recessive, 1, temperature-sensitive; deafness, autosomal recessive 9; neurosensory nonsyndromic recessive deafness 9; otof-related hearing loss","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Autosomal recessive deafness 9, also known as DFNB9, is a genetic condition that affects hearing. It is caused by mutations in the otoferlin (OTOF) gene. This condition has two main forms. The first is known as prelingual non-syndromic auditory neuropathy spectrum disorder (ANSD). In the ANSD form, individuals are born with severe-to-profound deafness. They do not have inner-ear abnormalities. ANSD deafness is not usually detected by standard newborn hearing screening. The other form is known as temperature-sensitive auditory neuropathy spectrum disorder (TS-ANSD). Individuals with TS-ANSD typically have normal-to-moderate hearing loss at normal body temperatures. For these people, a slight increase in body temperature can trigger a significant, temporary worsening of hearing. DFNB9 is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601071","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010986","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 recessive deafness 9, also known as DFNB9, is a genetic condition that affects hearing. It is caused by mutations in the otoferlin (OTOF) gene. This condition has two main forms. The first is known as prelingual non-syndromic auditory neuropathy spectrum disorder (ANSD). In the ANSD form, individuals are born with severe-to-profound deafness. They do not have inner-ear abnormalities. ANSD deafness is not usually detected by standard newborn hearing screening. The other form is known as temperature-sensitive auditory neuropathy spectrum disorder (TS-ANSD). Individuals with TS-ANSD typically have normal-to-moderate hearing loss at normal body temperatures. For these people, a slight increase in body temperature can trigger a significant, temporary worsening of hearing. DFNB9 is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"auditory neuropathy, autosomal recessive, 1, temperature-sensitive; deafness, autosomal recessive 9; neurosensory nonsyndromic recessive deafness 9; otof-related hearing loss","Name":"Autosomal recessive nonsyndromic hearing loss 9","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1251","Source__c":"Gene Review","Xref__c":"NBK1251"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1434","Xref__c":"NBK1434"},{"URL__c":"https://www.omim.org/entry/601071","Source__c":"C1832828; MONDO:0010986","Xref__c":"OMIM:601071"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832828","Source__c":"C1832828","Xref__c":"C1832828"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110535","Source__c":"MONDO:0010986","Xref__c":"DOID:0110535"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331376","Source__c":"C1832828","Xref__c":"MEDGEN:331376"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010986","Source__c":"GARD:0022588","Xref__c":"MONDO:0010986"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OTOF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601071","Feature__r":{"HPO_Description__c":"Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008529","HPO_Synonym__c":"Absence of acoustic middle ear muscle reflexes; Absent middle ear reflexes; Absent stapedius reflexes","HPO_Name__c":"Absence of acoustic reflex","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601071","Feature__r":{"HPO_Description__c":"Lack of measurable response to stimulation of auditory evoked potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004463","HPO_Synonym__c":"No auditory brainstem response","HPO_Name__c":"Absent brainstem auditory responses","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["auditory neuropathy, autosomal recessive, 1, temperature-sensitive"," deafness, autosomal recessive 9"," neurosensory nonsyndromic recessive deafness 9"," otof-related hearing loss"]}