{"Name":"Lisch epithelial corneal dystrophy","DiseaseID__c":"GARD:0016877","id":16877,"encodedName":"lisch-epithelial-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Lisch epithelial corneal dystrophy","Xref_IDs__c":"724175002; C2749050; C567588; DOID:0060450; MEDGEN:411737; MONDO:0010425; OMIM:620763; ORPHA:98955","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010425","Disease_Description__c":"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.","GARD_Name__c":"Lisch epithelial corneal dystrophy","GARD_Synonym__c":"band-shaped and whorled microcystic; band-shaped and whorled microcystic corneal epithelial dystrophy; band-shaped and whorled microcystic dystrophy of corneal epithelium; band-shaped and whorled microcystic dystrophy of the corneal epithelium; corneal dystrophy, lisch epithelial, x-linked dominant; lecd","Curated_Disease_Description_Source__c":"MONDO:0010425","Curated_Disease_Description__c":"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98955","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010425","ORPHANET_ID__c":"ORPHA:98955","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal epitelial de lisch","Spanish_Description_Source__c":"ORPHA:98955","Spanish_Description__c":"La distrofia corneal epithelial de Lisch (LECD) es una forma muy rara de distrofia corneal superficial caracterizada por opacidades en forma de pluma y microquistes en el epitelio corneal dispuestos en forma de banda y, en ocasiones, en espiral, con ocasionalmente problemas de visión.","Spanish_Disease_Name__c":"distrofia corneal epitelial de lisch","Spanish_GARD_Synonym__c":"distrofia microquística en forma de banda y verticilada del epitelio corneal; lecd","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":"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.","Curated_Disease_Description_Source__c":"MONDO:0010425","GARD_Synonym__c":"band-shaped and whorled microcystic; band-shaped and whorled microcystic corneal epithelial dystrophy; band-shaped and whorled microcystic dystrophy of corneal epithelium; band-shaped and whorled microcystic dystrophy of the corneal epithelium; corneal dystrophy, lisch epithelial, x-linked dominant; lecd","Name":"Lisch epithelial corneal dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Corneal Dystrophy Foundation","Website__c":"https://www.cornealdystrophyfoundation.org/home"}],"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":"Childhood","Provided_By__c":"ORPHA:98955"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2749050","Source__c":"C2749050","Xref__c":"C2749050"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724175002","Source__c":"C2749050; MONDO:0010425","Xref__c":"724175002"},{"URL__c":"https://www.orpha.net/en/disease/detail/98955","Source__c":"C2749050; MONDO:0010425; ORPHA:98955","Xref__c":"ORPHA:98955"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060450","Source__c":"MONDO:0010425","Xref__c":"DOID:0060450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567588","Source__c":"MONDO:0010425","Xref__c":"C567588"},{"URL__c":"https://www.omim.org/entry/620763","Source__c":"C2749050; MONDO:0010425; ORPHA:98955","Xref__c":"OMIM:620763"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=411737","Source__c":"C2749050","Xref__c":"MEDGEN:411737"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010425","Source__c":"GARD:0016877","Xref__c":"MONDO:0010425"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MCOLN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mcoln1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:620763","Feature__r":{"HPO_Description__c":"A type of genetically determined disease of the cornea with corneal lesions with a band-like shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007709","HPO_Name__c":"Band-shaped corneal dystrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["band-shaped and whorled microcystic"," band-shaped and whorled microcystic corneal epithelial dystrophy"," band-shaped and whorled microcystic dystrophy of corneal epithelium"," band-shaped and whorled microcystic dystrophy of the corneal epithelium"," corneal dystrophy, lisch epithelial, x-linked dominant"," lecd"]}