{"Name":"Meesmann corneal dystrophy","DiseaseID__c":"GARD:0009688","id":9688,"encodedName":"meesmann-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Meesmann corneal dystrophy","Xref_IDs__c":"1674008; C0339277; C84795; D053559; DOID:0060451; MEDGEN:83283; MONDO:0007379; OMIMPS:122100; ORPHA:98954","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007379","Disease_Description__c":"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.","GARD_Name__c":"Meesmann corneal dystrophy","GARD_Synonym__c":"juvenile epithelial corneal dystrophy; juvenile epithelial of meesmann corneal dystrophy; juvenile hereditary epithelial dystrophy; juvenile hereditary epithelial dystrophy of meesmann; mecd; meesman's corneal dystrophy; meesman's epithelial corneal dystrophy; stocker-holt dystrophy","Curated_Disease_Description_Source__c":"GARD:0009688","Curated_Disease_Description__c":"Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye. In people with Meesmann corneal dystrophy, cysts can appear as early as the first year of life. They usually affect both eyes and increase in number over time. The cysts usually do not cause any symptoms until late adolescence or adulthood, when they start to break open (rupture) on the surface of the cornea and cause irritation. The resulting symptoms typically include increased sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), increased tear production, the sensation of having a foreign object in the eye, and an inability to tolerate wearing contact lenses. Some affected individuals also have temporary episodes of blurred 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:98954","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007379","ORPHANET_ID__c":"ORPHA:98954","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal de meesmann","Spanish_Description_Source__c":"ORPHA:98954","Spanish_Description__c":"La distrofia corneal de Meesmann (MECD) es una forma rara de distrofia corneal superficial caracterizada por pequeñas opacidades bilaterales puntiformes, entre redondas y ovaladas, similares a una burbuja, en el epitelio central de la córnea, y, en menor medida, en la periferia de la córnea, con poco impacto en la visión.","Spanish_Disease_Name__c":"distrofia corneal de meesmann","Spanish_GARD_Synonym__c":"distrofia epitelial hereditaria juvenil de meesmann; mecd","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":"Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye. In people with Meesmann corneal dystrophy, cysts can appear as early as the first year of life. They usually affect both eyes and increase in number over time. The cysts usually do not cause any symptoms until late adolescence or adulthood, when they start to break open (rupture) on the surface of the cornea and cause irritation. The resulting symptoms typically include increased sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), increased tear production, the sensation of having a foreign object in the eye, and an inability to tolerate wearing contact lenses. Some affected individuals also have temporary episodes of blurred vision.","Curated_Disease_Description_Source__c":"GARD:0009688","GARD_Synonym__c":"juvenile epithelial corneal dystrophy; juvenile epithelial of meesmann corneal dystrophy; juvenile hereditary epithelial dystrophy; juvenile hereditary epithelial dystrophy of meesmann; mecd; meesman's corneal dystrophy; meesman's epithelial corneal dystrophy; stocker-holt dystrophy","Name":"Meesmann corneal dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Royal National Institute of Blind People","Website__c":"https://www.rnib.org.uk/"},{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98954"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0339277"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009688","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83283","Source__c":"C0339277","Xref__c":"MEDGEN:83283"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060451","Source__c":"MONDO:0007379","Xref__c":"DOID:0060451"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0339277","Source__c":"C0339277","Xref__c":"C0339277"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS122100","Source__c":"MONDO:0007379","Xref__c":"OMIMPS:122100"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84795","Source__c":"C0339277; MONDO:0007379","Xref__c":"C84795"},{"URL__c":"https://www.orpha.net/en/disease/detail/98954","Source__c":"C0339277; MONDO:0007379; ORPHA:98954","Xref__c":"ORPHA:98954"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1674008","Source__c":"C0339277; MONDO:0007379","Xref__c":"1674008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053559","Source__c":"C0339277; MONDO:0007379","Xref__c":"D053559"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007379","Source__c":"GARD:0009688","Xref__c":"MONDO:0007379"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007755","Source__c":"C0339277","Xref__c":"HP:0007755"},{"URL__c":"https://medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy","Source__c":"GARD:0009688","Xref__c":"https://medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["juvenile epithelial corneal dystrophy"," juvenile epithelial of meesmann corneal dystrophy"," juvenile hereditary epithelial dystrophy"," juvenile hereditary epithelial dystrophy of meesmann"," mecd"," meesman's corneal dystrophy"," meesman's epithelial corneal dystrophy"," stocker-holt dystrophy"]}