{"Name":"Congenital retinal arteriovenous communication","DiseaseID__c":"GARD:0021530","id":21530,"encodedName":"congenital-retinal-arteriovenous-communication","IsDeleted":false,"Disease_Name_Full__c":"Congenital retinal arteriovenous communication","Xref_IDs__c":"C0521570; C35479; MEDGEN:105478; MONDO:0018145; ORPHA:353334","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:353334","Disease_Description__c":"A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.","GARD_Name__c":"Congenital retinal arteriovenous communication","GARD_Synonym__c":"congenital arteriovenous anastomoses of the retina; congenital arteriovenous communication of the retina; congenital arteriovenous malformation of retina; congenital racemose hemangioma of retina; congenital retinal arteriovenous anastomoses; retinal arteriovenous anomaly; retinal arteriovenous malformation; retinal racemose haemangioma; retinal racemose hemangioma","Curated_Disease_Description_Source__c":"ORPHA:353334","Curated_Disease_Description__c":"A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:353334","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018145","ORPHANET_ID__c":"ORPHA:353334","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Comunicación arteriovenosa retiniana congénita","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"comunicación arteriovenosa retiniana congénita","Spanish_GARD_Synonym__c":"anastomosis arteriovenosa congénita de la retina; anastomosis arteriovenosa retiniana congénita; comunicación arteriovenosa congénita de la retina","Category_Linearization__c":"ORPHA:98028","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 neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.","Curated_Disease_Description_Source__c":"ORPHA:353334","GARD_Synonym__c":"congenital arteriovenous anastomoses of the retina; congenital arteriovenous communication of the retina; congenital arteriovenous malformation of retina; congenital racemose hemangioma of retina; congenital retinal arteriovenous anastomoses; retinal arteriovenous anomaly; retinal arteriovenous malformation; retinal racemose haemangioma; retinal racemose hemangioma","Name":"Congenital retinal arteriovenous communication","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:353334"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:353334"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=105478","Source__c":"C0521570","Xref__c":"MEDGEN:105478"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0521570","Source__c":"C0521570","Xref__c":"C0521570"},{"URL__c":"https://www.orpha.net/en/disease/detail/353334","Source__c":"C0521570; MONDO:0018145; ORPHA:353334","Xref__c":"ORPHA:353334"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030509","Source__c":"C0521570","Xref__c":"HP:0030509"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=789700005","Source__c":"C0521570","Xref__c":"789700005"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35479","Source__c":"C0521570","Xref__c":"C35479"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=95501007","Source__c":"C0521570","Xref__c":"95501007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018145","Source__c":"GARD:0021530","Xref__c":"MONDO:0018145"}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Ophthalmology","Retinal","Vascular Neurology","Pediatrics"],"Account":["Retinal"]},"synonyms":["congenital arteriovenous anastomoses of the retina"," congenital arteriovenous communication of the retina"," congenital arteriovenous malformation of retina"," congenital racemose hemangioma of retina"," congenital retinal arteriovenous anastomoses"," retinal arteriovenous anomaly"," retinal arteriovenous malformation"," retinal racemose haemangioma"," retinal racemose hemangioma"]}