{"Name":"Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome","DiseaseID__c":"GARD:0017888","id":17888,"encodedName":"familial-progressive-retinal-dystrophy-iris-coloboma-congenital-cataract-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome","Xref_IDs__c":"C4225493; MEDGEN:903733; MONDO:0014747; OMIM:616722; ORPHA:488197","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:488197","Disease_Description__c":"A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.","GARD_Name__c":"Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome","GARD_Synonym__c":"retinal dystrophy and iris coloboma with or without cataract; retinal dystrophy and iris coloboma with or without congenital cataract","Curated_Disease_Description_Source__c":"ORPHA:488197","Curated_Disease_Description__c":"A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:488197","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014747","ORPHANET_ID__c":"ORPHA:488197","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de distrofia retiniana progresiva-coloboma de iris-catarata congénita familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de distrofia retiniana progresiva-coloboma de iris-catarata congénita familiar","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":"A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.","Curated_Disease_Description_Source__c":"ORPHA:488197","GARD_Synonym__c":"retinal dystrophy and iris coloboma with or without cataract; retinal dystrophy and iris coloboma with or without congenital cataract","Name":"Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrom","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"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:488197"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:488197"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/616722","Source__c":"C4225493; MONDO:0014747; ORPHA:488197","Xref__c":"OMIM:616722"},{"URL__c":"https://www.orpha.net/en/disease/detail/488197","Source__c":"C4225493; MONDO:0014747","Xref__c":"ORPHA:488197"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=903733","Source__c":"C4225493","Xref__c":"MEDGEN:903733"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225493","Source__c":"C4225493","Xref__c":"C4225493"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014747","Source__c":"GARD:0017888","Xref__c":"MONDO:0014747"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MIR204","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616722","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616722","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001105","HPO_Name__c":"Retinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616722","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011484","HPO_Synonym__c":"Iridolenticular adhesions; Posterior synechiae","HPO_Name__c":"Posterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616722","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616722","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Retinal"]},"synonyms":["retinal dystrophy and iris coloboma with or without cataract"," retinal dystrophy and iris coloboma with or without congenital cataract"]}