{"Name":"X-linked mixed hearing loss with perilymphatic gusher","DiseaseID__c":"GARD:0004504","id":4504,"encodedName":"x-linked-mixed-hearing-loss-with-perilymphatic-gusher","IsDeleted":false,"Disease_Name_Full__c":"X-linked mixed hearing loss with perilymphatic gusher","Xref_IDs__c":"C1844678; DOID:0111737; MEDGEN:336750; MONDO:0010576; OMIM:304400","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:0010576","Disease_Description__c":"X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.","GARD_Name__c":"X-linked mixed hearing loss with perilymphatic gusher","GARD_Synonym__c":"deafness, x-linked 2; dfnx2; dfnx2 nonsyndromic hearing loss and deafness; gusher syndrome; nance deafness; perilymphatic gusher-deafness syndrome; sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear; x-linked mixed conductive and neurosensory hearing loss; x-linked mixed conductive and sensorineural hearing loss; x-linked stapes gusher syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Deafness, x-linked 2 (DFNX2), also known as DFN3, is a genetic disorder that affects hearing. It is caused by changes in the POU3F4 gene. It follows an x-linked pattern of inheritance. In some cases, the disorder is caused by deletions, inversions, or duplications in a specific region of the X chromosome. DFNX2 causes a gradual loss of hearing and a specific bone deformity in the ear. This bone deformity can cause a fluid leak during the surgery used to fix hearing loss (stapes surgery).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:304400","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010576","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, x-linked 2 (DFNX2), also known as DFN3, is a genetic disorder that affects hearing. It is caused by changes in the POU3F4 gene. It follows an x-linked pattern of inheritance. In some cases, the disorder is caused by deletions, inversions, or duplications in a specific region of the X chromosome. DFNX2 causes a gradual loss of hearing and a specific bone deformity in the ear. This bone deformity can cause a fluid leak during the surgery used to fix hearing loss (stapes surgery).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"deafness, x-linked 2; dfnx2; dfnx2 nonsyndromic hearing loss and deafness; gusher syndrome; nance deafness; perilymphatic gusher-deafness syndrome; sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear; x-linked mixed conductive and neurosensory hearing loss; x-linked mixed conductive and sensorineural hearing loss; x-linked stapes gusher syndrome","Name":"X-linked mixed hearing loss with perilymphatic gusher","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004504","Source__c":"RareSource"},{"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=336750","Source__c":"C1844678","Xref__c":"MEDGEN:336750"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111737","Source__c":"MONDO:0010576","Xref__c":"DOID:0111737"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844678","Source__c":"C1844678","Xref__c":"C1844678"},{"URL__c":"https://www.omim.org/entry/304400","Source__c":"C1844678; MONDO:0010576","Xref__c":"OMIM:304400"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010576","Source__c":"GARD:0004504","Xref__c":"MONDO:0010576"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POU3F4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pou3f4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:304400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a dilated inner part of external acoustic meatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004458","HPO_Synonym__c":"Bulbous internal auditory canal; Enlarged internal auditory canal","HPO_Name__c":"Dilatated internal auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:304400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008527","HPO_Synonym__c":"Bilateral congenital sensorineural deafness; Congenital neurosensory deafness; Congenital perceptive deafness; Congenital sensorineural deafness; Congenital sensorineural hearing loss; Hearing loss, congenital sensorineural","HPO_Name__c":"Congenital sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:304400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000410","HPO_Synonym__c":"Hearing loss, mixed; Mixed hearing impairment; Mixed hearing loss","HPO_Name__c":"Mixed hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:304400","Feature__r":{"HPO_Description__c":"A progressive form of sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000408","HPO_Synonym__c":"Bilateral progressive sensorineural hearing loss; Hearing loss, progressive sensorineural; Hearing loss, sensorineural, bilateral, progressive; Hearing loss, sensorineural, progressive; Progressive bilateral sensorineural hearing loss; Sensorineural hearing loss, progressive","HPO_Name__c":"Progressive sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:304400","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:304400","Feature__r":{"HPO_Description__c":"Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000381","HPO_Synonym__c":"Stapes fixation","HPO_Name__c":"Stapes ankylosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["deafness, x-linked 2"," dfnx2"," dfnx2 nonsyndromic hearing loss and deafness"," gusher syndrome"," nance deafness"," perilymphatic gusher-deafness syndrome"," sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear"," x-linked mixed conductive and neurosensory hearing loss"," x-linked mixed conductive and sensorineural hearing loss"," x-linked stapes gusher syndrome"]}