{"Name":"Optic atrophy 5","DiseaseID__c":"GARD:0010201","id":10201,"encodedName":"optic-atrophy-5","IsDeleted":false,"Disease_Name_Full__c":"Optic atrophy 5","Xref_IDs__c":"C1853139; C537126; DOID:0111438; MEDGEN:377837; MONDO:0012543; OMIM:610708","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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:610708","Disease_Description__c":"OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by {2:Gerber et al., 2017}).\\n\\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).","GARD_Name__c":"Optic atrophy 5","GARD_Synonym__c":"opa5","Curated_Disease_Description_Source__c":"MEDGEN:C1853139","Curated_Disease_Description__c":"OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:610708","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012543","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":"OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).","Curated_Disease_Description_Source__c":"MEDGEN:C1853139","GARD_Synonym__c":"opa5","Name":"Optic atrophy 5","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1853139"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010201","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377837","Source__c":"C1853139","Xref__c":"MEDGEN:377837"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853139","Source__c":"C1853139","Xref__c":"C1853139"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537126","Source__c":"MONDO:0012543","Xref__c":"C537126"},{"URL__c":"https://www.omim.org/entry/610708","Source__c":"C1853139; MONDO:0012543","Xref__c":"OMIM:610708"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111438","Source__c":"MONDO:0012543","Xref__c":"DOID:0111438"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012543","Source__c":"GARD:0010201","Xref__c":"MONDO:0012543"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DNM1L","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610708","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610708","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001133","HPO_Synonym__c":"Concentric narrowing of visual field; Constricted visual field; Constricted visual fields; Limited peripheral vision; Reduced peripheral vision; Visual field constriction","HPO_Name__c":"Constriction of peripheral visual field","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610708","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An area of depressed vision located at the point of fixation and that interferes with central vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000603","HPO_Synonym__c":"Central blind spot; Central scotomata","HPO_Name__c":"Central scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610708","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:610708","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030455","HPO_Name__c":"Abnormality of pattern visual evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610708","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007924","HPO_Synonym__c":"Slow decrease in sharpness of vision; Subacute deterioration of visual acuity","HPO_Name__c":"Slow decrease in visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610708","Feature__r":{"HPO_Description__c":"Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000552","HPO_Synonym__c":"Blue yellow color blindness; Blue-yellow dyschromatopsia; Dyschromatopsia, blue-yellow","HPO_Name__c":"Tritanomaly","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Neuro-Ophthalmology"]},"synonyms":["opa5"]}