{"Name":"Bosley-Salih-Alorainy syndrome","DiseaseID__c":"GARD:0016684","id":16684,"encodedName":"bosley-salih-alorainy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Bosley-Salih-Alorainy syndrome","Xref_IDs__c":"C1832216; MEDGEN:321908; MONDO:0019075; ORPHA:69737","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":2,"Description_Source__c":"MONDO:0019075","Disease_Description__c":"Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the <i>HOXA1</i> gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.","GARD_Name__c":"Bosley-Salih-Alorainy syndrome","GARD_Synonym__c":"bosley salih alorainy syndrome; bsas","Curated_Disease_Description_Source__c":"MONDO:0019075","Curated_Disease_Description__c":"Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:69737","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019075","ORPHANET_ID__c":"ORPHA:69737","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de bosley-salih-aloainy","Spanish_Description_Source__c":"ORPHA:69737","Spanish_Description__c":"Este síndrome se caracteriza por una disfunción variable de la mirada horizontal, sordera neurosensorial profunda y bilateral asociada, por lo general, con una malformación importante del oído interno, anomalías cerebrovasculares (que varían desde hipoplasia unilateral de la arteria carótida interna a agenesia bilateral), malformación cardíaca, retraso en el desarrollo y, ocasionalmente, autismo. El síndrome está causado por mutaciones en homocigosis en el gen <i>HOXA1</i> (7p15.2) y se transmite de manera autosómica recesiva. El síndrome se solapa clínica y genéticamente con el síndrome de disfunción cerebral de Athabaskan (ABDS, por sus siglas en inglés). Sin embargo, a diferencia del ABDS, este síndrome no manifiesta hipoventilación central.","Spanish_Disease_Name__c":"síndrome de bosley-salih-aloainy","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":"Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.","Curated_Disease_Description_Source__c":"MONDO:0019075","GARD_Synonym__c":"bosley salih alorainy syndrome; bsas","Name":"Bosley-Salih-Alorainy 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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:69737"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:69737"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/69737","Source__c":"C1832216; MONDO:0019075; ORPHA:69737","Xref__c":"ORPHA:69737"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321908","Source__c":"C1832216","Xref__c":"MEDGEN:321908"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832216","Source__c":"C1832216","Xref__c":"C1832216"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019075","Source__c":"GARD:0016684","Xref__c":"MONDO:0019075"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720567008","Source__c":"C1832216","Xref__c":"720567008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOXA1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Neurology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["bosley salih alorainy syndrome"," bsas"]}