{"Name":"EDICT syndrome","DiseaseID__c":"GARD:0017349","id":17349,"encodedName":"edict-syndrome","IsDeleted":false,"Disease_Name_Full__c":"EDICT syndrome","Xref_IDs__c":"722439009; C3280392; MEDGEN:482022; MONDO:0013678; OMIM:614303; ORPHA:293936","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0013678","Disease_Description__c":"A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.","GARD_Name__c":"EDICT syndrome","GARD_Synonym__c":"autosomal dominant keratoconus with early-onset anterior polar cataract; autosomal dominant keratoconus with early-onset anterior polar cataracts; edict; edict (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome; endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome; endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome; endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome; familial keratoconus with cataract; keratoconus with cataract; keratoconus, familial, with early-onset anterior polar cataract; ktcnct","Curated_Disease_Description_Source__c":"MONDO:0013678","Curated_Disease_Description__c":"A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:293936","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013678","ORPHANET_ID__c":"ORPHA:293936","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome edict","Spanish_Description_Source__c":"ORPHA:293936","Spanish_Description__c":"Es un trastorno ocular autosómico de herencia dominante poco frecuente que representa una constelación de hallazgos oculares que incluye cataratas de inicio temprano o congénitas, adelgazamiento del estroma corneal, queratocono de inicio temprano, distrofia endotelial corneal, e hipoplasia del iris.","Spanish_Disease_Name__c":"síndrome edict","Spanish_GARD_Synonym__c":"ktcnct; queratocono autosómico dominante con cataratas polares anteriores de inicio precoz; queratocono familiar con cataratas; síndrome de distrofia endotelial-hipoplasia del iris-catarata congénita-adelgazamiento estromal","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, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.","Curated_Disease_Description_Source__c":"MONDO:0013678","GARD_Synonym__c":"autosomal dominant keratoconus with early-onset anterior polar cataract; autosomal dominant keratoconus with early-onset anterior polar cataracts; edict; edict (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome; endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome; endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome; endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome; familial keratoconus with cataract; keratoconus with cataract; keratoconus, familial, with early-onset anterior polar cataract; ktcnct","Name":"EDICT syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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:293936"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:293936"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:293936"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/614303","Source__c":"C3280392; MONDO:0013678; ORPHA:293936","Xref__c":"OMIM:614303"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722439009","Source__c":"C3280392; MONDO:0013678","Xref__c":"722439009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280392","Source__c":"C3280392","Xref__c":"C3280392"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482022","Source__c":"C3280392","Xref__c":"MEDGEN:482022"},{"URL__c":"https://www.orpha.net/en/disease/detail/293936","Source__c":"C3280392; MONDO:0013678; ORPHA:293936","Xref__c":"ORPHA:293936"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013678","Source__c":"GARD:0017349","Xref__c":"MONDO:0013678"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MIR184","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614303","Feature__r":{"HPO_Description__c":"Congenital underdevelopment of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007676","HPO_Synonym__c":"Hypoplastic iris; Iris hypoplasia; Underdeveloped iris","HPO_Name__c":"Hypoplasia of the iris","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A polar cataract that affects the anterior pole of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001134","HPO_Synonym__c":"Polar cataract, anterior","HPO_Name__c":"Anterior polar cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000563","HPO_Synonym__c":"Bulging cornea; Conical cornea","HPO_Name__c":"Keratoconus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614303","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:614303","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614303","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["autosomal dominant keratoconus with early-onset anterior polar cataract"," autosomal dominant keratoconus with early-onset anterior polar cataracts"," edict"," edict (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome"," endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome"," endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome"," endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome"," familial keratoconus with cataract"," keratoconus with cataract"," keratoconus, familial, with early-onset anterior polar cataract"," ktcnct"]}