{"Name":"Ectopia lentis 2, isolated, autosomal recessive","DiseaseID__c":"GARD:0002060","id":2060,"encodedName":"ectopia-lentis-2-isolated-autosomal-recessive","IsDeleted":false,"Disease_Name_Full__c":"Ectopia lentis 2, isolated, autosomal recessive","Xref_IDs__c":"C3541474; DOID:0111149; MEDGEN:762100; MONDO:0009152; OMIM:225100","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009152","Disease_Description__c":"An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.","GARD_Name__c":"Ectopia lentis 2, isolated, autosomal recessive","GARD_Synonym__c":"ectol2; ectopia lentis, isolated, autosomal recessive","Curated_Disease_Description_Source__c":"MEDGEN:C3541474","Curated_Disease_Description__c":"The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as \"autosomal recessive isolated ectopia lentis\" and \"ectopia lentis et pupillae\" as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual. In general, no additional systemic manifestations are observed, although skeletal features have been reported in a few affected individuals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:225100","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009152","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as \"autosomal recessive isolated ectopia lentis\" and \"ectopia lentis et pupillae\" as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual. In general, no additional systemic manifestations are observed, although skeletal features have been reported in a few affected individuals.","Curated_Disease_Description_Source__c":"MEDGEN:C3541474","GARD_Synonym__c":"ectol2; ectopia lentis, isolated, autosomal recessive","Name":"Ectopia lentis 2, isolated, autosomal recessive","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pediatric Glaucoma & Cataract Family Association","Website__c":"https://pgcfa.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3541474"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002060","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK84111","Source__c":"Gene Review","Xref__c":"NBK84111"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111149","Source__c":"MONDO:0009152","Xref__c":"DOID:0111149"},{"URL__c":"https://www.omim.org/entry/225100","Source__c":"C3541474; MONDO:0009152","Xref__c":"OMIM:225100"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3541474","Source__c":"C3541474","Xref__c":"C3541474"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=762100","Source__c":"C3541474","Xref__c":"MEDGEN:762100"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009152","Source__c":"GARD:0002060","Xref__c":"MONDO:0009152"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADAMTSL4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/adamtsl4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:225100","Feature__r":{"HPO_Description__c":"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001083","HPO_Synonym__c":"Abnormality of lens position; Lens dislocation","HPO_Name__c":"Ectopia lentis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["ectol2"," ectopia lentis, isolated, autosomal recessive"]}