{"Name":"Epithelial basement membrane dystrophy","DiseaseID__c":"GARD:0009732","id":9732,"encodedName":"epithelial-basement-membrane-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Epithelial basement membrane dystrophy","Xref_IDs__c":"373426005; C0521723; C535477; DOID:0060447; MEDGEN:99275; MONDO:0007375; OMIM:121820; ORPHA:98956","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"GARD:0009732","Disease_Description__c":"Epithelial basement membrane corneal dystrophy (EBMD), also called map-dot-fingerprint dystrophy, is an eye condition that affects the cornea. The epithelium is the cornea's outermost layer, and the basement membrane is the layer that the epithelium attaches to. EBMD occurs when the epithelial basement membrane develops abnormally, resulting in folds in the tissue. Most people with EBMD do not have symptoms and may not be aware they have EBMD. Those who do have symptoms may have mild to severe blurry vision and pain, sensitivity to light, excessive tearing, and a feeling that something is in the eye. The main cause of symptoms is recurring development of erosions in the cornea. EBMD usually affects both eyes. EBMD usually is not inherited, occurring randomly in people with no family history of EBMD. However, familial cases with autosomal dominant inheritance have been reported. In some people with EBMD, a genetic change in the TGFBI gene has been identified as the cause. However in most cases, the cause remains unknown.","GARD_Name__c":"Epithelial basement membrane dystrophy","GARD_Synonym__c":"anterior basement membrane dystrophy; cogan corneal dystrophy; cogan microcystic epithelial dystrophy; corneal dystrophy, anterior basement membrane; corneal dystrophy, cogan type; corneal dystrophy, epithelial basement membrane; corneal dystrophy, microcystic; corneal epithelial and basement membrane dystrophy; corneal epithelial dystrophy; ebmd; ebmd - epithelial basement membrane dystrophy; map-dot-fingerprint corneal dystrophy; map-dot-fingerprint dystrophy; map-dot-fingerprint dystrophy of cornea; mdf - map dot fingerprint dystrophy; microcystic corneal dystrophy; microcystic dystrophy of the cornea; microscopic cystic corneal dystrophy","Curated_Disease_Description_Source__c":"GARD:0009732","Curated_Disease_Description__c":"A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of 'maps', 'dots', and 'fingerprints' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98956","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007375","ORPHANET_ID__c":"ORPHA:98956","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia de la membrana basal epitelial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distrofia de la membrana basal epitelial","Spanish_GARD_Synonym__c":"distrofia de la membrana basal anterior; distrofia epitelial microquística de cogan; distrofia mapa-punto-huella dactilar; ebmd","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 corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of 'maps', 'dots', and 'fingerprints' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0009732","GARD_Synonym__c":"anterior basement membrane dystrophy; cogan corneal dystrophy; cogan microcystic epithelial dystrophy; corneal dystrophy, anterior basement membrane; corneal dystrophy, cogan type; corneal dystrophy, epithelial basement membrane; corneal dystrophy, microcystic; corneal epithelial and basement membrane dystrophy; corneal epithelial dystrophy; ebmd; ebmd - epithelial basement membrane dystrophy; map-dot-fingerprint corneal dystrophy; map-dot-fingerprint dystrophy; map-dot-fingerprint dystrophy of cornea; mdf - map dot fingerprint dystrophy; microcystic corneal dystrophy; microcystic dystrophy of the cornea; microscopic cystic corneal dystrophy","Name":"Epithelial basement membrane dystrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Royal National Institute of Blind People","Website__c":"https://www.rnib.org.uk/"},{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009732","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=373426005","Source__c":"C0521723; MONDO:0007375","Xref__c":"373426005"},{"URL__c":"https://www.omim.org/entry/121820","Source__c":"C0521723; MONDO:0007375; ORPHA:98956","Xref__c":"OMIM:121820"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535477","Source__c":"MONDO:0007375","Xref__c":"C535477"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=99275","Source__c":"C0521723","Xref__c":"MEDGEN:99275"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0521723","Source__c":"C0521723","Xref__c":"C0521723"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060447","Source__c":"MONDO:0007375","Xref__c":"DOID:0060447"},{"URL__c":"https://www.orpha.net/en/disease/detail/98956","Source__c":"C0521723; MONDO:0007375; ORPHA:98956","Xref__c":"ORPHA:98956"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007375","Source__c":"GARD:0009732","Xref__c":"MONDO:0007375"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007690","Source__c":"C0521723","Xref__c":"HP:0007690"}],"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:121820","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000495","HPO_Synonym__c":"Corneal erosions, recurrent; Recurrent breakdown of clear protective layer of eye; Recurrent corneal ulceration","HPO_Name__c":"Recurrent corneal erosions","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:121820","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007690","HPO_Name__c":"Map-dot-fingerprint corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:121820","HPO_Frequency__c":"Occasional (5-29%)","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:121820","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye"]},"synonyms":["anterior basement membrane dystrophy"," cogan corneal dystrophy"," cogan microcystic epithelial dystrophy"," corneal dystrophy, anterior basement membrane"," corneal dystrophy, cogan type"," corneal dystrophy, epithelial basement membrane"," corneal dystrophy, microcystic"," corneal epithelial and basement membrane dystrophy"," corneal epithelial dystrophy"," ebmd"," ebmd - epithelial basement membrane dystrophy"," map-dot-fingerprint corneal dystrophy"," map-dot-fingerprint dystrophy"," map-dot-fingerprint dystrophy of cornea"," mdf - map dot fingerprint dystrophy"," microcystic corneal dystrophy"," microcystic dystrophy of the cornea"," microscopic cystic corneal dystrophy"]}