{"Name":"Progressive deafness with stapes fixation","DiseaseID__c":"GARD:0005170","id":5170,"encodedName":"progressive-deafness-with-stapes-fixation","IsDeleted":false,"Disease_Name_Full__c":"Progressive deafness with stapes fixation","Xref_IDs__c":"715529009; C1832354; C563316; MEDGEN:330446; MONDO:0011080; OMIM:601449; ORPHA:3235","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011080","Disease_Description__c":"Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).","GARD_Name__c":"Progressive deafness with stapes fixation","GARD_Synonym__c":"progressive hearing loss with stapes fixation; stapedo-vestibular ankylosis; thies reis syndrome; thies-reis syndrome","Curated_Disease_Description_Source__c":"GARD:0005170","Curated_Disease_Description__c":"Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing. This condition may be associated with a number of conditions, including otosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3235","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011080","ORPHANET_ID__c":"ORPHA:3235","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sordera progresiva con fijación del estribo","Spanish_Description_Source__c":"ORPHA:3235","Spanish_Description__c":"La fijación del estribo (anquilosis estapediovestibular) es un trastorno de hipoacusia que aparece como consecuencia de la destrucción del ligamento anular, seguida por la producción excesiva de tejido conectivo durante el proceso de curación. Esta afección se observa principalmente en la otosclerosis, pero también se da en la otitis media crónica con timpanoesclerosis y en otras enfermedades raras de los huesos tales como la enfermedad de Paget y la osteogénesis imperfecta (enfermedad de Lobstein).","Spanish_Disease_Name__c":"sordera progresiva con fijación del estribo","Spanish_GARD_Synonym__c":"hipoacusia progresiva con fijación del estribo","Category_Linearization__c":"ORPHA:93890","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":"Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing. This condition may be associated with a number of conditions, including otosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis).","Curated_Disease_Description_Source__c":"GARD:0005170","GARD_Synonym__c":"progressive hearing loss with stapes fixation; stapedo-vestibular ankylosis; thies reis syndrome; thies-reis syndrome","Name":"Progressive deafness with stapes fixation","estimateUsa":""}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3235"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832354","Source__c":"C1832354","Xref__c":"C1832354"},{"URL__c":"https://www.orpha.net/en/disease/detail/3235","Source__c":"C1832354; MONDO:0011080; ORPHA:3235","Xref__c":"ORPHA:3235"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330446","Source__c":"C1832354","Xref__c":"MEDGEN:330446"},{"URL__c":"https://www.omim.org/entry/601449","Source__c":"C1832354; MONDO:0011080; ORPHA:3235","Xref__c":"OMIM:601449"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563316","Source__c":"MONDO:0011080","Xref__c":"C563316"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715529009","Source__c":"C1832354; MONDO:0011080","Xref__c":"715529009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011080","Source__c":"GARD:0005170","Xref__c":"MONDO:0011080"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3235","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:3235","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bilateral type of conductive hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008513","HPO_Synonym__c":"Bilateral conductive deafness; Bilateral conductive hearing loss","HPO_Name__c":"Bilateral conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["progressive hearing loss with stapes fixation"," stapedo-vestibular ankylosis"," thies reis syndrome"," thies-reis syndrome"]}