{"Name":"Familial cavitary optic disk anomaly","DiseaseID__c":"GARD:0017822","id":17822,"encodedName":"familial-cavitary-optic-disk-anomaly","IsDeleted":false,"Disease_Name_Full__c":"Familial cavitary optic disk anomaly","Xref_IDs__c":"C1969063; C566924; MEDGEN:370593; MONDO:0012687; OMIM:611543; ORPHA:464760","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:464760","Disease_Description__c":"A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.","GARD_Name__c":"Familial cavitary optic disk anomaly","GARD_Synonym__c":"cavitary optic disc anomalies; cavitary optic disc anomaly; familial cavitary optic disc anomaly; familial coda; familial coda (cavitary optic disc anomaly)","Curated_Disease_Description_Source__c":"ORPHA:464760","Curated_Disease_Description__c":"A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:464760","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012687","ORPHANET_ID__c":"ORPHA:464760","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anomalía cavitaria familiar del disco óptico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anomalía cavitaria familiar del disco óptico","Spanish_GARD_Synonym__c":"coda familiar","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":"A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.","Curated_Disease_Description_Source__c":"ORPHA:464760","GARD_Synonym__c":"cavitary optic disc anomalies; cavitary optic disc anomaly; familial cavitary optic disc anomaly; familial coda; familial coda (cavitary optic disc anomaly)","Name":"Familial cavitary optic disk anomaly","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":"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":"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":"Adult","Provided_By__c":"ORPHA:464760"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:464760"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/611543","Source__c":"C1969063; MONDO:0012687; ORPHA:464760","Xref__c":"OMIM:611543"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1969063","Source__c":"C1969063","Xref__c":"C1969063"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=370593","Source__c":"C1969063","Xref__c":"MEDGEN:370593"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566924","Source__c":"MONDO:0012687","Xref__c":"C566924"},{"URL__c":"https://www.orpha.net/en/disease/detail/464760","Source__c":"C1969063; MONDO:0012687; ORPHA:464760","Xref__c":"ORPHA:464760"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197365006","Source__c":"C1969063","Xref__c":"1197365006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012687","Source__c":"GARD:0017822","Xref__c":"MONDO:0012687"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MMP19","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611543","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500087","HPO_Name__c":"Peripapillary atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611543","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"}},{"Provided_By__c":"OMIM:611543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611543","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001123","HPO_Synonym__c":"Partial loss of field of vision; Visual field defects","HPO_Name__c":"Visual field defect","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["cavitary optic disc anomalies"," cavitary optic disc anomaly"," familial cavitary optic disc anomaly"," familial coda"," familial coda (cavitary optic disc anomaly)"]}