{"Name":"Autosomal dominant neovascular inflammatory vitreoretinopathy","DiseaseID__c":"GARD:0017497","id":17497,"encodedName":"autosomal-dominant-neovascular-inflammatory-vitreoretinopathy","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant neovascular inflammatory vitreoretinopathy","Xref_IDs__c":"770791000; C4721549; DOID:9719; MEDGEN:1648542; MONDO:0100450; OMIM:193235; ORPHA:329211","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0100450","Disease_Description__c":"An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.","GARD_Name__c":"Autosomal dominant neovascular inflammatory vitreoretinopathy","GARD_Synonym__c":"adniv; capn5 vitreoretinopathy; capn5-related vitreoretinopathy; retinitis proliferans; vitreoretinopathy, neovascular inflammatory; vitreoretinopathy, neovascular inflammatory, autosomal dominant; vrni","Curated_Disease_Description_Source__c":"ORPHA:329211","Curated_Disease_Description__c":"A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:329211","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100450","ORPHANET_ID__c":"ORPHA:329211","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Vitreorretinopatía inflamatoria neovascular autosómica dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"vitreorretinopatía inflamatoria neovascular autosómica dominante","Spanish_GARD_Synonym__c":"adniv","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, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.","Curated_Disease_Description_Source__c":"ORPHA:329211","GARD_Synonym__c":"adniv; capn5 vitreoretinopathy; capn5-related vitreoretinopathy; retinitis proliferans; vitreoretinopathy, neovascular inflammatory; vitreoretinopathy, neovascular inflammatory, autosomal dominant; vrni","Name":"Autosomal dominant neovascular inflammatory vitreoretinopathy","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":"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":"All ages","Provided_By__c":"ORPHA:329211"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770791000","Source__c":"C4721549; MONDO:0100450","Xref__c":"770791000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648542","Source__c":"C4721549","Xref__c":"MEDGEN:1648542"},{"URL__c":"https://www.omim.org/entry/193235","Source__c":"MONDO:0100450; ORPHA:329211","Xref__c":"OMIM:193235"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4721549","Source__c":"C4721549","Xref__c":"C4721549"},{"URL__c":"https://www.orpha.net/en/disease/detail/329211","Source__c":"MONDO:0100450","Xref__c":"ORPHA:329211"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9719","Source__c":"MONDO:0100450","Xref__c":"DOID:9719"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100450","Source__c":"GARD:0017497","Xref__c":"MONDO:0100450"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CAPN5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:193235","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":"OMIM:193235","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193235","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193235","Feature__r":{"HPO_Description__c":"A type of retinal neovascularization that affects the periphery of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030667","HPO_Name__c":"Peripheral retinal neovascularization","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193235","Feature__r":{"HPO_Description__c":"Bleeding within the vitreous compartment of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007902","HPO_Name__c":"Vitreous hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193235","Feature__r":{"HPO_Description__c":"Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007773","HPO_Synonym__c":"Vitreoretinal abnormality; Vitreoretinal degeneration","HPO_Name__c":"Vitreoretinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193235","Feature__r":{"HPO_Description__c":"A type of retinal neovascularization that affects the posterior pole of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007778","HPO_Synonym__c":"Neovascularization of peripheral and posterior retina; Posterior retinal neovascularisation","HPO_Name__c":"Posterior retinal neovascularization","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193235","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007658","HPO_Name__c":"Large hyperpigmented retinal spots","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193235","Feature__r":{"HPO_Description__c":"Inflammation of one or all portions of the uveal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000554","HPO_Name__c":"Uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["adniv"," capn5 vitreoretinopathy"," capn5-related vitreoretinopathy"," retinitis proliferans"," vitreoretinopathy, neovascular inflammatory"," vitreoretinopathy, neovascular inflammatory, autosomal dominant"," vrni"]}