{"Name":"Duane retraction syndrome with congenital deafness","DiseaseID__c":"GARD:0017968","id":17968,"encodedName":"duane-retraction-syndrome-with-congenital-deafness","IsDeleted":false,"Disease_Name_Full__c":"Duane retraction syndrome with congenital deafness","Xref_IDs__c":"1230014007; C5680193; MEDGEN:1804304; MONDO:0035337; ORPHA:529574","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0035337","Disease_Description__c":"A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.","GARD_Name__c":"Duane retraction syndrome with congenital deafness","GARD_Synonym__c":"drs with deafness; drs with hearing loss; duane retraction syndrome with congenital hearing loss; durs with deafness; durs with hearing loss","Curated_Disease_Description_Source__c":"MONDO:0035337","Curated_Disease_Description__c":"A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:529574","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035337","ORPHANET_ID__c":"ORPHA:529574","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de retracción de duane con sordera congénita","Spanish_Description_Source__c":"ORPHA:529574","Spanish_Description__c":"Es una enfermedad neurológica poco frecuente caracterizada por la presencia del síndrome de retracción de Duane (es decir, un trastorno de denervación craneal congénito con limitación uni- o bilateral de la abducción y/o aducción del ojo, así como retracción del globo ocular y estrechamiento de la fisura palpebral en el intento de aducción) en combinación con hipoacusia congénita uni- o bilateral. Se da una correspondencia entre la lateralidad de la hipoacusia y la del síndrome de retracción.","Spanish_Disease_Name__c":"síndrome de retracción de duane con sordera congénita","Spanish_GARD_Synonym__c":"drs con hipoacusia; drs con sordera; durs con hipoacusia; durs con sordera; síndrome de retracción de duane con hipoacusia congénita","Category_Linearization__c":"ORPHA:98036","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":"A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.","Curated_Disease_Description_Source__c":"MONDO:0035337","GARD_Synonym__c":"drs with deafness; drs with hearing loss; duane retraction syndrome with congenital hearing loss; durs with deafness; durs with hearing loss","Name":"Duane retraction syndrome with congenital deafness","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:529574"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1190","Source__c":"Gene Review","Xref__c":"NBK1190"},{"URL__c":"https://www.orpha.net/en/disease/detail/529574","Source__c":"C5680193; MONDO:0035337; ORPHA:529574","Xref__c":"ORPHA:529574"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1804304","Source__c":"C5680193","Xref__c":"MEDGEN:1804304"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680193","Source__c":"C5680193","Xref__c":"C5680193"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1230014007","Source__c":"C5680193","Xref__c":"1230014007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035337","Source__c":"GARD:0017968","Xref__c":"MONDO:0035337"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MAFB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["drs with deafness"," drs with hearing loss"," duane retraction syndrome with congenital hearing loss"," durs with deafness"," durs with hearing loss"]}