{"Name":"Congenital total cataract","DiseaseID__c":"GARD:0001159","id":1159,"encodedName":"congenital-total-cataract","IsDeleted":false,"Disease_Name_Full__c":"Congenital total cataract","Xref_IDs__c":"29590001; C0266539; MEDGEN:75616; MONDO:0021548; ORPHA:98994","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:98994","Disease_Description__c":null,"GARD_Name__c":"Congenital total cataract","GARD_Synonym__c":"cataract, total congenital with posterior sutural opacities in heterozygotes; congenital complete cataract; total early-onset cataract","Curated_Disease_Description_Source__c":"ORPHA:91492","Curated_Disease_Description__c":"Total early-onset cataract is a rare, genetic, developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however, other organs/systems are usually not affected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:98994","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0021548","ORPHANET_ID__c":"ORPHA:98994","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Catarata total de inicio precoz","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"catarata total de inicio precoz","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":"Total early-onset cataract is a rare, genetic, developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however, other organs/systems are usually not affected.","Curated_Disease_Description_Source__c":"ORPHA:91492","GARD_Synonym__c":"cataract, total congenital with posterior sutural opacities in heterozygotes; congenital complete cataract; total early-onset cataract","Name":"Congenital total cataract","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":"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98994"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98994"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001159","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75616","Source__c":"C0266539","Xref__c":"MEDGEN:75616"},{"URL__c":"https://www.orpha.net/en/disease/detail/98994","Source__c":"C0266539; MONDO:0021548; ORPHA:98994","Xref__c":"ORPHA:98994"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266539","Source__c":"C0266539","Xref__c":"C0266539"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=29590001","Source__c":"C0266539","Xref__c":"29590001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0021548","Source__c":"GARD:0001159","Xref__c":"MONDO:0021548"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRYBB2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PGRMC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DNMBP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GCNT2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HSF4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LSS","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SIPA1L3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GJA8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYGB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AGK","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYAA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EPHA2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MIP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FYCO1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LIM2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LEMD2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["cataract, total congenital with posterior sutural opacities in heterozygotes"," congenital complete cataract"," total early-onset cataract"]}