{"Name":"Autosomal dominant keratitis","DiseaseID__c":"GARD:0003089","id":3089,"encodedName":"autosomal-dominant-keratitis","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant keratitis","Xref_IDs__c":"715339004; C1835698; C537022; DOID:0111383; MEDGEN:332039; MONDO:0007848; OMIM:148190; ORPHA:2334","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007848","Disease_Description__c":"A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia.","GARD_Name__c":"Autosomal dominant keratitis","GARD_Synonym__c":"hereditary keratitis; keratitis, autosomal dominant; keratitis, hereditary","Curated_Disease_Description_Source__c":"ORPHA:2334","Curated_Disease_Description__c":"Autosomal dominant keratitis is characterized by opacification and vascularization of the cornea, often associated with macula hypoplasia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2334","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007848","ORPHANET_ID__c":"ORPHA:2334","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratitis autosómica dominante","Spanish_Description_Source__c":"ORPHA:2334","Spanish_Description__c":"Es un trastorno inflamatorio de la córnea, de origen genético poco frecuente, caracterizado por opacificación del estroma anterior de la córnea y vascularización de la córnea periférica con posible progresión central y posterior reducción de la agudeza visual. Las características variables incluyen anomalías del iris, como defectos del estroma y ectropión úvea, así como hipoplasia foveal.","Spanish_Disease_Name__c":"queratitis autosómica dominante","Spanish_GARD_Synonym__c":"queratitis hereditaria","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":"Autosomal dominant keratitis is characterized by opacification and vascularization of the cornea, often associated with macula hypoplasia.","Curated_Disease_Description_Source__c":"ORPHA:2334","GARD_Synonym__c":"hereditary keratitis; keratitis, autosomal dominant; keratitis, hereditary","Name":"Autosomal dominant keratitis","estimateUsa":""}],"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:2334"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1835698"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4017065"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003089","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111383","Source__c":"MONDO:0007848","Xref__c":"DOID:0111383"},{"URL__c":"https://www.omim.org/entry/148190","Source__c":"C1835698; MONDO:0007848; ORPHA:2334","Xref__c":"OMIM:148190"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537022","Source__c":"MONDO:0007848","Xref__c":"C537022"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332039","Source__c":"C1835698","Xref__c":"MEDGEN:332039"},{"URL__c":"https://www.orpha.net/en/disease/detail/2334","Source__c":"C1835698; MONDO:0007848; ORPHA:2334","Xref__c":"ORPHA:2334"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715339004","Source__c":"C1835698; MONDO:0007848","Xref__c":"715339004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835698","Source__c":"C1835698","Xref__c":"C1835698"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007848","Source__c":"GARD:0003089","Xref__c":"MONDO:0007848"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAX6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the stroma of iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007990","HPO_Synonym__c":"Hypoplastic iris stoma; Iris stromal hypoplasia; Underdeveloped iris stroma","HPO_Name__c":"Hypoplastic iris stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000539","HPO_Name__c":"Abnormality of refraction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007633","HPO_Synonym__c":"Abnormally small eyeball on both sides; Microphthalmia, bilateral","HPO_Name__c":"Bilateral microphthalmos","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032107","HPO_Name__c":"Limbal stem cell deficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ingrowth of new blood vessels into the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011496","HPO_Synonym__c":"Corneal vascularization; Limbal neovascularization; New blood vessel formation in cornea","HPO_Name__c":"Corneal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","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:2334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001104","HPO_Name__c":"Macular hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000526","HPO_Synonym__c":"Absent iris","HPO_Name__c":"Aniridia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fovea centralis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007750","HPO_Synonym__c":"Foveal hypoplasia","HPO_Name__c":"Hypoplasia of the fovea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nystagmus dating from or present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006934","HPO_Name__c":"Congenital nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000589","HPO_Synonym__c":"Notched pupil; Ocular coloboma; Ocular colobomas","HPO_Name__c":"Coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","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:2334","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000491","HPO_Synonym__c":"Corneal inflammation","HPO_Name__c":"Keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the margin of the cornea overlapped by the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025348","HPO_Synonym__c":"Abnormality of the corneal limbus","HPO_Name__c":"Abnormal corneal limbus morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["hereditary keratitis"," keratitis, autosomal dominant"," keratitis, hereditary"]}