{"Name":"Butterfly-shaped pigment dystrophy","DiseaseID__c":"GARD:0016890","id":16890,"encodedName":"butterfly-shaped-pigment-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Butterfly-shaped pigment dystrophy","Xref_IDs__c":"725590001; C4511237; MEDGEN:1381271; MONDO:0100466; ORPHA:99001","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0100466","Disease_Description__c":"A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.","GARD_Name__c":"Butterfly-shaped pigment dystrophy","GARD_Synonym__c":"butterfly-shaped pattern dystrophy; butterfly-shaped pigmentary macular dystrophy","Curated_Disease_Description_Source__c":"MONDO:0100466","Curated_Disease_Description__c":"A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:99001","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100466","ORPHANET_ID__c":"ORPHA:99001","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia pigmentaria en alas de mariposa","Spanish_Description_Source__c":"ORPHA:99001","Spanish_Description__c":"Es una distrofia en patrón del epitelio pigmentario retiniano caracterizada por un acúmulo anómalo de lipofuscina distribuido en forma de alas de mariposa en el epitelio pigmentario retiniano. Los pacientes manifiestan una pérdida lenta y progresiva de la visión que a menudo se hace aparente a una edad avanzada.","Spanish_Disease_Name__c":"distrofia pigmentaria en alas de mariposa","Spanish_GARD_Synonym__c":"distrofia en patrón en forma de mariposa; distrofia macular pigmentaria en forma de mariposa","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 patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.","Curated_Disease_Description_Source__c":"MONDO:0100466","GARD_Synonym__c":"butterfly-shaped pattern dystrophy; butterfly-shaped pigmentary macular dystrophy","Name":"Butterfly-shaped pigment dystrophy","estimateUsa":""}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99001"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725590001","Source__c":"C4511237; MONDO:0100466","Xref__c":"725590001"},{"URL__c":"https://www.orpha.net/en/disease/detail/99001","Source__c":"C4511237; MONDO:0100466; ORPHA:99001","Xref__c":"ORPHA:99001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1381271","Source__c":"C4511237","Xref__c":"MEDGEN:1381271"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511237","Source__c":"C4511237","Xref__c":"C4511237"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100466","Source__c":"GARD:0016890","Xref__c":"MONDO:0100466"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTNNA1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PRPH2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prph2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"OTX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/otx2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["butterfly-shaped pattern dystrophy"," butterfly-shaped pigmentary macular dystrophy"]}