{"Name":"Congenital blue dot cataract","DiseaseID__c":"GARD:0009508","id":9508,"encodedName":"congenital-blue-dot-cataract","IsDeleted":false,"Disease_Name_Full__c":"Congenital blue dot cataract","Xref_IDs__c":"204138006; C0344523; C537955; MEDGEN:138007; MONDO:0020374; ORPHA:98989","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020374","Disease_Description__c":"A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.","GARD_Name__c":"Congenital blue dot cataract","GARD_Synonym__c":"blue-dot cataract; cataracts, congenital, cerulean; cerulean cataract","Curated_Disease_Description_Source__c":"GARD:0009508","Curated_Disease_Description__c":"Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually impaired from birth or develop nystagmus and amblyopia. Cerulean cataracts may be caused by genetic changes in several genes, including the CRYBB2, CRYGD, and MAF genes, and are inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98989","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020374","ORPHANET_ID__c":"ORPHA:98989","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Catarata cerúlea","Spanish_Description_Source__c":"ORPHA:98989","Spanish_Description__c":"Es un tipo de catarata congénita hereditaria que se caracteriza por opacidades azuladas y blancas en las capas superficiales del núcleo del cristalino fetal y en el núcleo del cristalino en adultos, y que se caracteriza por reducción de la agudeza visual en la infancia, que finalmente requiere la extracción del cristalino.","Spanish_Disease_Name__c":"catarata cerúlea","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":"Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually impaired from birth or develop nystagmus and amblyopia. Cerulean cataracts may be caused by genetic changes in several genes, including the CRYBB2, CRYGD, and MAF genes, and are inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0009508","GARD_Synonym__c":"blue-dot cataract; cataracts, congenital, cerulean; cerulean cataract","Name":"Congenital blue dot cataract","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"The Vision of Children Foundation","Website__c":"https://www.visionofchildren.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":"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":"Childhood","Provided_By__c":"ORPHA:98989"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009508","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/98989","Source__c":"C0344523; MONDO:0020374; ORPHA:98989","Xref__c":"ORPHA:98989"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204138006","Source__c":"C0344523; MONDO:0020374","Xref__c":"204138006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537955","Source__c":"MONDO:0020374","Xref__c":"C537955"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344523","Source__c":"C0344523","Xref__c":"C0344523"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=138007","Source__c":"C0344523","Xref__c":"MEDGEN:138007"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007976","Source__c":"C0344523","Xref__c":"HP:0007976"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020374","Source__c":"GARD:0009508","Xref__c":"MONDO:0020374"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRYGD","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":"CRYBB2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MAF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["blue-dot cataract"," cataracts, congenital, cerulean"," cerulean cataract"]}