{"Name":"Corneal dystrophy, lattice type 3A","DiseaseID__c":"GARD:0010320","id":10320,"encodedName":"corneal-dystrophy-lattice-type-3a","IsDeleted":false,"Disease_Name_Full__c":"Corneal dystrophy, lattice type 3A","Xref_IDs__c":"C1837974; C563923; MEDGEN:332989; MONDO:0012044; OMIM:608471","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012044","Disease_Description__c":"Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.","GARD_Name__c":"Corneal dystrophy, lattice type 3A","GARD_Synonym__c":"cdl3a; lattice corneal dystrophy type iii a; lattice corneal dystrophy type iiia","Curated_Disease_Description_Source__c":"MONDO:0012044","Curated_Disease_Description__c":"Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:608471","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012044","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.","Curated_Disease_Description_Source__c":"MONDO:0012044","GARD_Synonym__c":"cdl3a; lattice corneal dystrophy type iii a; lattice corneal dystrophy type iiia","Name":"Corneal dystrophy, lattice type 3A","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"Cornea Research Foundation of America","Website__c":"http://www.cornea.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1837974"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010320","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/608471","Source__c":"C1837974; MONDO:0012044","Xref__c":"OMIM:608471"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332989","Source__c":"C1837974","Xref__c":"MEDGEN:332989"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837974","Source__c":"C1837974","Xref__c":"C1837974"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563923","Source__c":"MONDO:0012044","Xref__c":"C563923"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012044","Source__c":"GARD:0010320","Xref__c":"MONDO:0012044"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TGFBI","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgfbi","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608471","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:608471","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:608471","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001149","HPO_Synonym__c":"Biber haab dimmer dystrophy","HPO_Name__c":"Lattice corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608471","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["cdl3a"," lattice corneal dystrophy type iii a"," lattice corneal dystrophy type iiia"]}