{"Name":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea","DiseaseID__c":"GARD:0010942","id":10942,"encodedName":"glaucoma-secondary-to-spherophakiaectopia-lentis-and-megalocornea","IsDeleted":false,"Disease_Name_Full__c":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea","Xref_IDs__c":"C5190883; MEDGEN:1674483; MONDO:0016559; ORPHA:238763","USA_Estimate__c":"1,000","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":"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016559","Disease_Description__c":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.","GARD_Name__c":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea","GARD_Synonym__c":"megalocornea-spherophakia-secondary glaucoma syndrome; megalocornea, spherophakia, secondary glaucoma syndrome","Curated_Disease_Description_Source__c":"MONDO:0016559","Curated_Disease_Description__c":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.","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:238763","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016559","ORPHANET_ID__c":"ORPHA:238763","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Glaucoma secundario a esferofaquia/ectopia lentis y megalocórnea","Spanish_Description_Source__c":"ORPHA:238763","Spanish_Description__c":"El glaucoma secundario a esferofaquia / ectopia lentis y megalocórnea es un defecto no sindrómico del desarrollo ocular, genético y poco frecuente, caracterizado por megalocórnea congénita asociada a esferofaquia y/o ectopia lentis, que conduce a un bloqueo pupilar y glaucoma secundario. Otras características adicionales pueden incluir iris plano, iridodonesis, miopía axial, cámaras anteriores muy profundas, pupilas mióticas ovaladas sin bordes definidos, dolor ocular e irritabilidad que se manifiestan como inyección conjuntival, edema corneal y cicatrización central, así como paladar ojival.","Spanish_Disease_Name__c":"glaucoma secundario a esferofaquia/ectopia lentis y megalocórnea","Spanish_GARD_Synonym__c":null,"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":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.","Curated_Disease_Description_Source__c":"MONDO:0016559","GARD_Synonym__c":"megalocornea-spherophakia-secondary glaucoma syndrome; megalocornea, spherophakia, secondary glaucoma syndrome","Name":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Glaucoma UK","Website__c":"https://glaucoma.uk/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:238763"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:238763"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010942","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1674483","Source__c":"C5190883","Xref__c":"MEDGEN:1674483"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190883","Source__c":"C5190883","Xref__c":"C5190883"},{"URL__c":"https://www.orpha.net/en/disease/detail/238763","Source__c":"C5190883; MONDO:0016559; ORPHA:238763","Xref__c":"ORPHA:238763"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016559","Source__c":"GARD:0010942","Xref__c":"MONDO:0016559"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783246000","Source__c":"C5190883","Xref__c":"783246000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LTBP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["megalocornea-spherophakia-secondary glaucoma syndrome"," megalocornea, spherophakia, secondary glaucoma syndrome"]}