{"Name":"Aniridia - intellectual disability syndrome","DiseaseID__c":"GARD:0005530","id":5530,"encodedName":"aniridia-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Aniridia - intellectual disability syndrome","Xref_IDs__c":"C2931243; C536568; MEDGEN:419752; MONDO:0015199; ORPHA:1068","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015199","Disease_Description__c":"An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.","GARD_Name__c":"Aniridia - intellectual disability syndrome","GARD_Synonym__c":"aniridia and intellectual disability syndrome; aniridia-intellectual disability syndrome; walker-dyson syndrome","Curated_Disease_Description_Source__c":"MONDO:0015199","Curated_Disease_Description__c":"An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1068","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015199","ORPHANET_ID__c":"ORPHA:1068","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de aniridia-discapacidad intelectual","Spanish_Description_Source__c":"ORPHA:1068","Spanish_Description__c":"Es un defecto del desarrollo ocular autosómico dominante extremadamente infrecuente, descrito en varios miembros de una misma familia, caracterizado por la asociación de discapacidad intelectual moderada con aniridia, luxación del cristalino, hipoplasia del nervio óptico y cataratas. No ha habido más casos descritos en la literatura desde 1974.","Spanish_Disease_Name__c":"síndrome de aniridia-discapacidad intelectual","Spanish_GARD_Synonym__c":"síndrome de walker-dyson","Category_Linearization__c":"ORPHA:93890","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":"An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.","Curated_Disease_Description_Source__c":"MONDO:0015199","GARD_Synonym__c":"aniridia and intellectual disability syndrome; aniridia-intellectual disability syndrome; walker-dyson syndrome","Name":"Aniridia - intellectual disability syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aniridia Foundation International","Website__c":"https://www.make-a-miracle.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1068"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419752","Source__c":"C2931243","Xref__c":"MEDGEN:419752"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536568","Source__c":"MONDO:0015199","Xref__c":"C536568"},{"URL__c":"https://www.orpha.net/en/disease/detail/1068","Source__c":"C2931243; MONDO:0015199; ORPHA:1068","Xref__c":"ORPHA:1068"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931243","Source__c":"C2931243","Xref__c":"C2931243"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720468000","Source__c":"C2931243","Xref__c":"720468000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015199","Source__c":"GARD:0005530","Xref__c":"MONDO:0015199"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1068","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1068","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1068","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1068","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000526","HPO_Synonym__c":"Absent iris","HPO_Name__c":"Aniridia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1068","HPO_Frequency__c":"Very frequent (80-99%)","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":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["aniridia and intellectual disability syndrome"," aniridia-intellectual disability syndrome"," walker-dyson syndrome"]}