{"Name":"Cochleosaccular degeneration-cataract syndrome","DiseaseID__c":"GARD:0009418","id":9418,"encodedName":"cochleosaccular-degeneration-cataract-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cochleosaccular degeneration-cataract syndrome","Xref_IDs__c":"715528001; C1861512; C536432; MEDGEN:348378; MONDO:0007346; OMIM:120040; ORPHA:3233","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007346","Disease_Description__c":"Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.","GARD_Name__c":"Cochleosaccular degeneration-cataract syndrome","GARD_Synonym__c":"cochleosaccular degeneration and cataract syndrome; cochleosaccular degeneration with progressive cataract; cochleosaccular degeneration with progressive cataracts","Curated_Disease_Description_Source__c":"MONDO:0007346","Curated_Disease_Description__c":"Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:3233","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007346","ORPHANET_ID__c":"ORPHA:3233","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de degeneración cocleosacular-catarata","Spanish_Description_Source__c":"ORPHA:3233","Spanish_Description__c":"Es un síndrome caracterizado por hipoacusia neurosensorial progresiva debido a una degeneración cocleosacular grave y por cataratas. Hasta la fecha, se ha detectado en dos familias. La transmisión es autosómica dominante.","Spanish_Disease_Name__c":"síndrome de degeneración cocleosacular-catarata","Spanish_GARD_Synonym__c":null,"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":"Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.","Curated_Disease_Description_Source__c":"MONDO:0007346","GARD_Synonym__c":"cochleosaccular degeneration and cataract syndrome; cochleosaccular degeneration with progressive cataract; cochleosaccular degeneration with progressive cataracts","Name":"Cochleosaccular degeneration-cataract syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:3233"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715528001","Source__c":"C1861512; MONDO:0007346","Xref__c":"715528001"},{"URL__c":"https://www.omim.org/entry/120040","Source__c":"C1861512; MONDO:0007346; ORPHA:3233","Xref__c":"OMIM:120040"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861512","Source__c":"C1861512","Xref__c":"C1861512"},{"URL__c":"https://www.orpha.net/en/disease/detail/3233","Source__c":"C1861512; MONDO:0007346; ORPHA:3233","Xref__c":"ORPHA:3233"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348378","Source__c":"C1861512","Xref__c":"MEDGEN:348378"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536432","Source__c":"MONDO:0007346","Xref__c":"C536432"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007346","Source__c":"GARD:0009418","Xref__c":"MONDO:0007346"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3233","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3233","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:3233","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deterioration or loss of the tissues of the cochlea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005102","HPO_Synonym__c":"Progressive cochlear degeneration","HPO_Name__c":"Cochlear degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3233","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Otolaryngology","Anterior segment of Eye"]},"synonyms":["cochleosaccular degeneration and cataract syndrome"," cochleosaccular degeneration with progressive cataract"," cochleosaccular degeneration with progressive cataracts"]}