{"Name":"Pigmented paravenous retinochoroidal atrophy","DiseaseID__c":"GARD:0017208","id":17208,"encodedName":"pigmented-paravenous-retinochoroidal-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Pigmented paravenous retinochoroidal atrophy","Xref_IDs__c":"723450004; C1868310; C566801; DOID:0111541; MEDGEN:401413; MONDO:0008246; OMIM:172870; ORPHA:251295","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008246","Disease_Description__c":"Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.","GARD_Name__c":"Pigmented paravenous retinochoroidal atrophy","GARD_Synonym__c":"pigmented paravenous chorioretinal atrophy; pprca; pprca - pigmented paravenous retinochoroidal atrophy","Curated_Disease_Description_Source__c":"MONDO:0008246","Curated_Disease_Description__c":"Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of 'bone-corpuscle' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.","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:251295","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008246","ORPHANET_ID__c":"ORPHA:251295","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia coriorretiniana pigmentada paravenosa","Spanish_Description_Source__c":"ORPHA:251295","Spanish_Description__c":"Es una enfermedad retiniana poco frecuente, por lo general bilateral y simétrica, caracterizada por atrofia coriorretiniana no progresiva o de progresión lenta, cambios pigmentarios peripapilares y acúmulo de espículas de pigmento a lo largo de las venas retinianas y que suele ser asintomático o puede asociar visión borrosa leve.","Spanish_Disease_Name__c":"atrofia coriorretiniana pigmentada paravenosa","Spanish_GARD_Synonym__c":"pprca","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":"Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of 'bone-corpuscle' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.","Curated_Disease_Description_Source__c":"MONDO:0008246","GARD_Synonym__c":"pigmented paravenous chorioretinal atrophy; pprca; pprca - pigmented paravenous retinochoroidal atrophy","Name":"Pigmented paravenous retinochoroidal atrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"Curing Retinal Blindness Foundation","Website__c":"https://crb1.org/"}],"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:251295"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566801","Source__c":"MONDO:0008246","Xref__c":"C566801"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111541","Source__c":"MONDO:0008246","Xref__c":"DOID:0111541"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723450004","Source__c":"C1868310; MONDO:0008246","Xref__c":"723450004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401413","Source__c":"C1868310","Xref__c":"MEDGEN:401413"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868310","Source__c":"C1868310","Xref__c":"C1868310"},{"URL__c":"https://www.orpha.net/en/disease/detail/251295","Source__c":"C1868310; MONDO:0008246; ORPHA:251295","Xref__c":"ORPHA:251295"},{"URL__c":"https://www.omim.org/entry/172870","Source__c":"C1868310; MONDO:0008246; ORPHA:251295","Xref__c":"OMIM:172870"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008246","Source__c":"GARD:0017208","Xref__c":"MONDO:0008246"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/crb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:172870","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172870","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172870","Feature__r":{"HPO_Description__c":"Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007737","HPO_Synonym__c":"Bone corpuscle fundus pigmentation; Bone spicule pigmentation of the retina; Fundus with peripheral bony spicules; Retinal bone corpuscle pigmentation; Retinal pigmented bone spicules","HPO_Name__c":"Spicular pigmentation of the retina","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172870","Feature__r":{"HPO_Description__c":"Chorioretinal atrophy along the retinal veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007903","HPO_Name__c":"Paravenous chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172870","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["pigmented paravenous chorioretinal atrophy"," pprca"," pprca - pigmented paravenous retinochoroidal atrophy"]}