{"Name":"Optic atrophy 6","DiseaseID__c":"GARD:0010200","id":10200,"encodedName":"optic-atrophy-6","IsDeleted":false,"Disease_Name_Full__c":"Optic atrophy 6","Xref_IDs__c":"C1850281; C537127; DOID:0111435; MEDGEN:338012; MONDO:0009786; OMIM:258500","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:258500","Disease_Description__c":"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).","GARD_Name__c":"Optic atrophy 6","GARD_Synonym__c":"opa6; optic atrophy, congenital or early infantile, autosomal recessive","Curated_Disease_Description_Source__c":"OMIM:258500","Curated_Disease_Description__c":"Optic atrophy-6 (OPA6) is an autosomal recessive eye disease caused by mutations mapped to chromosome 8q21-q22. It is characterized by early-onset, slowly progressive isolated optic atrophy. Moderate photophobia and dyschromatopsia for red-green confusion may be present. Nystagmus and optic neuropathy are absent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:258500","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009786","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Optic atrophy-6 (OPA6) is an autosomal recessive eye disease caused by mutations mapped to chromosome 8q21-q22. It is characterized by early-onset, slowly progressive isolated optic atrophy. Moderate photophobia and dyschromatopsia for red-green confusion may be present. Nystagmus and optic neuropathy are absent.","Curated_Disease_Description_Source__c":"OMIM:258500","GARD_Synonym__c":"opa6; optic atrophy, congenital or early infantile, autosomal recessive","Name":"Optic atrophy 6","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010200","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338012","Source__c":"C1850281","Xref__c":"MEDGEN:338012"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537127","Source__c":"MONDO:0009786","Xref__c":"C537127"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111435","Source__c":"MONDO:0009786","Xref__c":"DOID:0111435"},{"URL__c":"https://www.omim.org/entry/258500","Source__c":"C1850281; MONDO:0009786","Xref__c":"OMIM:258500"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850281","Source__c":"C1850281","Xref__c":"C1850281"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009786","Source__c":"GARD:0010200","Xref__c":"MONDO:0009786"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:258500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty with discriminating red and green hues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000642","HPO_Synonym__c":"Dyschromatopsia with red-green confusion; Red green color blindness","HPO_Name__c":"Red-green dyschromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Neuro-Ophthalmology"]},"synonyms":["opa6"," optic atrophy, congenital or early infantile, autosomal recessive"]}