{"Name":"Dominant hereditary optic atrophy","DiseaseID__c":"GARD:0011972","id":11972,"encodedName":"dominant-hereditary-optic-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Dominant hereditary optic atrophy","Xref_IDs__c":"2065009; C4551508; C84577; D029241; MEDGEN:1647918; MONDO:0020250; ORPHA:98672","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020250","Disease_Description__c":"An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.","GARD_Name__c":"Dominant hereditary optic atrophy","GARD_Synonym__c":"adoa; autosomal dominant optic atrophy; doa; optic atrophy, autosomal dominant","Curated_Disease_Description_Source__c":"GARD:0011972","Curated_Disease_Description__c":"Autosomal dominant optic atrophy (ADOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with ADOA have non-ocular features, such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). These cases may be referred to as 'ADOA plus.' ADOA is inherited in an autosomal dominant manner and may be caused by a genetic change in any of several genes, some of which have not been identified.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98672","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020250","ORPHANET_ID__c":"ORPHA:98672","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia óptica autosómica dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atrofia óptica autosómica dominante","Spanish_GARD_Synonym__c":"aoad; aod","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 dominant optic atrophy (ADOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with ADOA have non-ocular features, such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). These cases may be referred to as 'ADOA plus.' ADOA is inherited in an autosomal dominant manner and may be caused by a genetic change in any of several genes, some of which have not been identified.","Curated_Disease_Description_Source__c":"GARD:0011972","GARD_Synonym__c":"adoa; autosomal dominant optic atrophy; doa; optic atrophy, autosomal dominant","Name":"Dominant hereditary optic atrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure ADOA Foundation","Website__c":"https://adoa.eu/en/"},{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"},{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"},{"Account_Name__c":"Autosomal Dominant Optic Atrophy Association","Website__c":"https://www.adoaa.org/"}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"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":"Childhood","Provided_By__c":"ORPHA:98672"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0338508"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=2065009","Source__c":"C4551508; MONDO:0020250","Xref__c":"2065009"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84577","Source__c":"C4551508; MONDO:0020250","Xref__c":"C84577"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1647918","Source__c":"C4551508","Xref__c":"MEDGEN:1647918"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551508","Source__c":"C4551508","Xref__c":"C4551508"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C029241","Source__c":"MONDO:0020250","Xref__c":"D029241"},{"URL__c":"https://www.orpha.net/en/disease/detail/98672","Source__c":"C4551508; MONDO:0020250; ORPHA:98672","Xref__c":"ORPHA:98672"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020250","Source__c":"GARD:0011972","Xref__c":"MONDO:0020250"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["adoa"," autosomal dominant optic atrophy"," doa"," optic atrophy, autosomal dominant"]}