{"Name":"Fuchs' endothelial dystrophy","DiseaseID__c":"GARD:0010018","id":10018,"encodedName":"fuchs-endothelial-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Fuchs' endothelial dystrophy","Xref_IDs__c":"193839007; C0016781; C84721; D005642; DOID:11555; MEDGEN:4800; MONDO:0005321; OMIMPS:136800; ORPHA:98974","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005321","Disease_Description__c":"A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.","GARD_Name__c":"Fuchs' endothelial dystrophy","GARD_Synonym__c":"corneal dystrophy, fuchs endothelial; endoepithelial corneal dystrophy; fced; fecd; fuch's endothelial corneal dystrophy; fuchs corneal dystrophy; fuchs endothelial corneal dystrophy; fuchs endothelial dystrophy; fuchs' corneal dystrophy; fuchs' endothelial corneal dystrophy; late hereditary endothelial dystrophy","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights. Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread throughout the cornea. These guttae contribute to the ongoing cell death within the cornea, leading to worsening vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain. The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:98974","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005321","ORPHANET_ID__c":"ORPHA:98974","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal endotelial de fuchs","Spanish_Description_Source__c":"ORPHA:98974","Spanish_Description__c":"Es la forma más frecuente de distrofia corneal posterior y se caracteriza por excrecencias en una engrosada membrana de Descemet (corneal guttae), edema corneal generalizado, y por una agudeza visual que disminuye gradualmente.","Spanish_Disease_Name__c":"distrofia corneal endotelial de fuchs","Spanish_GARD_Synonym__c":"distrofia corneal endoepitelial; distrofia endotelial hereditaria tardía; fecd","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":"Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights. Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread throughout the cornea. These guttae contribute to the ongoing cell death within the cornea, leading to worsening vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain. The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"corneal dystrophy, fuchs endothelial; endoepithelial corneal dystrophy; fced; fecd; fuch's endothelial corneal dystrophy; fuchs corneal dystrophy; fuchs endothelial corneal dystrophy; fuchs endothelial dystrophy; fuchs' corneal dystrophy; fuchs' endothelial corneal dystrophy; late hereditary endothelial dystrophy","Name":"Fuchs' endothelial 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":"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"},{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98974"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010018","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0016781","Source__c":"C0016781","Xref__c":"C0016781"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11555","Source__c":"MONDO:0005321","Xref__c":"DOID:11555"},{"URL__c":"https://www.orpha.net/en/disease/detail/98974","Source__c":"C0016781; MONDO:0005321; ORPHA:98974","Xref__c":"ORPHA:98974"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005642","Source__c":"C0016781; MONDO:0005321","Xref__c":"D005642"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS136800","Source__c":"MONDO:0005321","Xref__c":"OMIMPS:136800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=4800","Source__c":"C0016781","Xref__c":"MEDGEN:4800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=193839007","Source__c":"C0016781; MONDO:0005321","Xref__c":"193839007"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84721","Source__c":"C0016781; MONDO:0005321","Xref__c":"C84721"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005321","Source__c":"GARD:0010018","Xref__c":"MONDO:0005321"},{"URL__c":"https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy","Source__c":"GARD:0010018","Xref__c":"https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ZEB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL8A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col8a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AGBL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TCF4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tcf4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SLC4A11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98974","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98974","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98974","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98974","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011488","HPO_Synonym__c":"Abnormality of corneal endothelium","HPO_Name__c":"Abnormal corneal endothelium morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98974","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98974","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011490","HPO_Synonym__c":"Abnormality of Descemet's membrane","HPO_Name__c":"Abnormal Descemet membrane morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98974","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:98974","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030857","HPO_Name__c":"Eye movement-induced pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98974","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of corneal endothelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011491","HPO_Name__c":"Reduced number of corneal endothelial cells","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye"]},"synonyms":["corneal dystrophy, fuchs endothelial"," endoepithelial corneal dystrophy"," fced"," fecd"," fuch's endothelial corneal dystrophy"," fuchs corneal dystrophy"," fuchs endothelial corneal dystrophy"," fuchs endothelial dystrophy"," fuchs' corneal dystrophy"," fuchs' endothelial corneal dystrophy"," late hereditary endothelial dystrophy"]}