{"Name":"Avellino corneal dystrophy","DiseaseID__c":"GARD:0009278","id":9278,"encodedName":"avellino-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Avellino corneal dystrophy","Xref_IDs__c":"397568004; C1275685; C535474; DOID:0060444; MEDGEN:220900; MONDO:0011855; OMIM:607541; ORPHA:98963","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011855","Disease_Description__c":"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.","GARD_Name__c":"Avellino corneal dystrophy","GARD_Synonym__c":"cda; cgd2; combined granular-lattice corneal dystrophies; combined granular-lattice corneal dystrophy; gcd2; gcdii; granular and lattice corneal dystrophies; granular corneal dystrophy type 2; granular corneal dystrophy type ii; granular corneal dystrophy, type ii; granular-lattice (avellino) corneal dystrophy; granular-lattice corneal dystrophy","Curated_Disease_Description_Source__c":"GARD:0009278","Curated_Disease_Description__c":"Corneal dystrophy, Avellino type is an inherited condition that affects the stromal or central layer of the cornea. It results in the development of small particles or granules (like breadcrumbs) on the cornea (known as granular corneal dystrophy) and the development of lesions that resemble cracked glass (known as lattice corneal dystrophy). The lesions may become larger, more prominent, and involve the entire stromal layer. Some older individuals have decreased clarity of vision (decreased visual acuity) due to clouding of the cornea (opacity). The Avellino type of corneal dystrophy is inherited in an autosomal dominant manner and is caused by genetic changes in the TGFBI gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98963","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011855","ORPHANET_ID__c":"ORPHA:98963","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal granular tipo 2","Spanish_Description_Source__c":"ORPHA:98963","Spanish_Description__c":"La distrofia corneal granular tipo II (GCDII) es una forma rara de distrofia corneal estromal (consulte este término) caracterizada por depósitos granulares bien delimitados y de formas irregulares en el estroma corneal central superficial, y discapacidad visual progresiva.","Spanish_Disease_Name__c":"distrofia corneal granular tipo 2","Spanish_GARD_Synonym__c":"distrofia corneal granular tipo ii","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":"Corneal dystrophy, Avellino type is an inherited condition that affects the stromal or central layer of the cornea. It results in the development of small particles or granules (like breadcrumbs) on the cornea (known as granular corneal dystrophy) and the development of lesions that resemble cracked glass (known as lattice corneal dystrophy). The lesions may become larger, more prominent, and involve the entire stromal layer. Some older individuals have decreased clarity of vision (decreased visual acuity) due to clouding of the cornea (opacity). The Avellino type of corneal dystrophy is inherited in an autosomal dominant manner and is caused by genetic changes in the TGFBI gene.","Curated_Disease_Description_Source__c":"GARD:0009278","GARD_Synonym__c":"cda; cgd2; combined granular-lattice corneal dystrophies; combined granular-lattice corneal dystrophy; gcd2; gcdii; granular and lattice corneal dystrophies; granular corneal dystrophy type 2; granular corneal dystrophy type ii; granular corneal dystrophy, type ii; granular-lattice (avellino) corneal dystrophy; granular-lattice corneal dystrophy","Name":"Avellino corneal dystrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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:98963"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1275685"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009278","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=397568004","Source__c":"C1275685; MONDO:0011855","Xref__c":"397568004"},{"URL__c":"https://www.omim.org/entry/607541","Source__c":"C1275685; MONDO:0011855; ORPHA:98963","Xref__c":"OMIM:607541"},{"URL__c":"https://www.orpha.net/en/disease/detail/98963","Source__c":"C1275685; MONDO:0011855; ORPHA:98963","Xref__c":"ORPHA:98963"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060444","Source__c":"MONDO:0011855","Xref__c":"DOID:0060444"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535474","Source__c":"MONDO:0011855","Xref__c":"C535474"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=220900","Source__c":"C1275685","Xref__c":"MEDGEN:220900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1275685","Source__c":"C1275685","Xref__c":"C1275685"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011855","Source__c":"GARD:0009278","Xref__c":"MONDO:0011855"}],"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":"ORPHA:98963","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98963","HPO_Frequency__c":"Frequent (30-79%)","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:98963","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000531","HPO_Synonym__c":"Corneal deposits","HPO_Name__c":"Corneal crystals","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98963","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007802","HPO_Name__c":"Granular corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98963","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008039","HPO_Name__c":"Subepithelial corneal opacities","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98963","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:98963","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:98963","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007759","HPO_Synonym__c":"Cloudy cornea; Corneal stromal opacity","HPO_Name__c":"Opacification of the corneal stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98963","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the central portion of the corneal stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011493","HPO_Name__c":"Central opacification of the cornea","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["cda"," cgd2"," combined granular-lattice corneal dystrophies"," combined granular-lattice corneal dystrophy"," gcd2"," gcdii"," granular and lattice corneal dystrophies"," granular corneal dystrophy type 2"," granular corneal dystrophy type ii"," granular corneal dystrophy, type ii"," granular-lattice (avellino) corneal dystrophy"," granular-lattice corneal dystrophy"]}