{"Name":"Autosomal recessive bestrophinopathy","DiseaseID__c":"GARD:0010301","id":10301,"encodedName":"autosomal-recessive-bestrophinopathy","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive bestrophinopathy","Xref_IDs__c":"723828008; C3888198; C567518; DOID:0050662; MEDGEN:854806; MONDO:0012733; OMIM:611809; ORPHA:139455","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012733","Disease_Description__c":"A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).","GARD_Name__c":"Autosomal recessive bestrophinopathy","GARD_Synonym__c":"bestrophinopathy; retinopathy burgess black type; retinopathy, burgess-black type","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Autosomal recessive bestrophinopathy is a rare disease that affects the retina. It is characterized by central visual loss in the first two decades of life, and abnormal responses to light from the retina and retinal pigment epithelium (RPE). This response is measured by two tests, the electrooculogram (EOG) and the electroretinogram (ERG).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:139455","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012733","ORPHANET_ID__c":"ORPHA:139455","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Bestrofinopatía autosómica recesiva","Spanish_Description_Source__c":"ORPHA:139455","Spanish_Description__c":"Es una distrofia retiniana caracterizada por la pérdida de la visión central en las dos primeras décadas de vida, asociada con la ausencia de una elevación del potencial basal en respuesta a la luz en el electrooculograma (EOG) y una respuesta reducida al estímulo luminosos en el electrorretinograma (ERG).","Spanish_Disease_Name__c":"bestrofinopatía autosómica recesiva","Spanish_GARD_Synonym__c":"retinopatía tipo burgess-black","Category_Linearization__c":"ORPHA:97966","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":"Autosomal recessive bestrophinopathy is a rare disease that affects the retina. It is characterized by central visual loss in the first two decades of life, and abnormal responses to light from the retina and retinal pigment epithelium (RPE). This response is measured by two tests, the electrooculogram (EOG) and the electroretinogram (ERG).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"bestrophinopathy; retinopathy burgess black type; retinopathy, burgess-black type","Name":"Autosomal recessive bestrophinopathy","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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:139455"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010301","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1167","Source__c":"Gene Review","Xref__c":"NBK1167"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723828008","Source__c":"C3888198; MONDO:0012733","Xref__c":"723828008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050662","Source__c":"MONDO:0012733","Xref__c":"DOID:0050662"},{"URL__c":"https://www.omim.org/entry/611809","Source__c":"C3888198; MONDO:0012733; ORPHA:139455","Xref__c":"OMIM:611809"},{"URL__c":"https://www.orpha.net/en/disease/detail/139455","Source__c":"C3888198; MONDO:0012733; ORPHA:139455","Xref__c":"ORPHA:139455"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567518","Source__c":"MONDO:0012733","Xref__c":"C567518"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=854806","Source__c":"C3888198","Xref__c":"MEDGEN:854806"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3888198","Source__c":"C3888198","Xref__c":"C3888198"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012733","Source__c":"GARD:0010301","Xref__c":"MONDO:0012733"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BEST1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/best1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611809","Feature__r":{"HPO_Description__c":"Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012045","HPO_Name__c":"Retinal flecks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611809","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611809","Feature__r":{"HPO_Description__c":"Decreased amplitude of eletrical response upon electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000654","HPO_Synonym__c":"Decreased amplitudes on flash visual electroretinogram; Decreased electroretinogram; Decreased electroretinogram amplitude; Decreased electroretinogram response; Decreased ERG amplitude; Flattened or absent electroretinogram; Reduced electroretinogram; Reduced ERG; Reduced or abolished electroretinogram","HPO_Name__c":"Decreased light- and dark-adapted electroretinogram amplitude","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611809","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007722","HPO_Name__c":"Retinal pigment epithelial atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611809","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["bestrophinopathy"," retinopathy burgess black type"," retinopathy, burgess-black type"]}