{"Name":"IRVAN syndrome","DiseaseID__c":"GARD:0012868","id":12868,"encodedName":"irvan-syndrome","IsDeleted":false,"Disease_Name_Full__c":"IRVAN syndrome","Xref_IDs__c":"783090002; C3665812; MEDGEN:1435227; MONDO:0016205; ORPHA:209943","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":4,"No_of_Age_at_Onset__c":3,"Description_Source__c":"GARD:0012868","Disease_Description__c":"IRVAN syndrome is an acronym for \"idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome,\" a condition that primarily affects the eyes. The severity of the condition varies from person to person with some affected people experiencing a mild form that resolves on its own and others experiencing a severe form that may progress to vitreous hemorrhage (leakage of blood into the eye), vision loss and/or glaucoma. The underlying cause of IRVAN syndrome is currently unknown. Most cases occur sporadically in people with no family history of the condition.","GARD_Name__c":"IRVAN syndrome","GARD_Synonym__c":"idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome; idiopathic retinal vasculitis, aneurysms, neuroretinitis syndrome; irvan (idiopathic retinal vasculitis, aneurysms, neuroretinitis) syndrome","Curated_Disease_Description_Source__c":"GARD:0012868","Curated_Disease_Description__c":"A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:209943","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016205","ORPHANET_ID__c":"ORPHA:209943","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome irvan","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome irvan","Spanish_GARD_Synonym__c":"síndrome de vasculitis retiniana idiopática-aneurismas-neurorretinitis","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 retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.","Curated_Disease_Description_Source__c":"GARD:0012868","GARD_Synonym__c":"idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome; idiopathic retinal vasculitis, aneurysms, neuroretinitis syndrome; irvan (idiopathic retinal vasculitis, aneurysms, neuroretinitis) syndrome","Name":"IRVAN syndrome","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:209943"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:209943"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:209943"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1435227","Source__c":"C3665812","Xref__c":"MEDGEN:1435227"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3665812","Source__c":"C3665812","Xref__c":"C3665812"},{"URL__c":"https://www.orpha.net/en/disease/detail/209943","Source__c":"C3665812; MONDO:0016205; ORPHA:209943","Xref__c":"ORPHA:209943"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016205","Source__c":"GARD:0012868","Xref__c":"MONDO:0016205"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783090002","Source__c":"C3665812","Xref__c":"783090002"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:209943","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100832","HPO_Synonym__c":"Eye floaters; Flitting flies; Mouches volantes; Myodeopsia; Myodesopsia; Spots in front of eyes; Vitreous condensations; Vitreous debris; Vitreous opacities; Vitreous veils","HPO_Name__c":"Vitreous floaters","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209943","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:209943","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:209943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209943","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow-white intraretinal deposits in the retina typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001147","HPO_Synonym__c":"Retinal exudates","HPO_Name__c":"Retinal exudate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007917","HPO_Name__c":"Tractional retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209943","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:209943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040049","HPO_Name__c":"Macular edema","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome"," idiopathic retinal vasculitis, aneurysms, neuroretinitis syndrome"," irvan (idiopathic retinal vasculitis, aneurysms, neuroretinitis) syndrome"]}