{"Name":"Isolated congenital megalocornea","DiseaseID__c":"GARD:0012648","id":12648,"encodedName":"isolated-congenital-megalocornea","IsDeleted":false,"Disease_Name_Full__c":"Isolated congenital megalocornea","Xref_IDs__c":"734026006; C4518341; MEDGEN:1385311; MONDO:0010649; OMIM:309300; ORPHA:91489","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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010649","Disease_Description__c":"Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.","GARD_Name__c":"Isolated congenital megalocornea","GARD_Synonym__c":"congenital anterior megalophthalmia; megalocornea 1, x-linked, x-linked recessive; mgc1","Curated_Disease_Description_Source__c":"GARD:0012648","Curated_Disease_Description__c":"Isolated congenital megalocornea affects the cornea, the part of the eye that lets in light. The symptoms of Isolated congenital megalocornea include mild nearsightedness, light sensitivity, and/or unusual vibration of the iris. At birth, the corneas are thin and enlarged. Cataracts may develop during adulthood. Other complications may include other cornea abnormalities, lens dislocation, and break down of the iris. Isolated congenital megalocornea occurs when the CHRDL1 gene is not working correctly. It is inherited in an X-linked recessive pattern. Diagnosis is made through a clinical examination and confirmed by DNA testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:91489","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010649","ORPHANET_ID__c":"ORPHA:91489","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Megalocórnea aislada congénita","Spanish_Description_Source__c":"ORPHA:91489","Spanish_Description__c":"La megalocórnea aislada congénita es un defecto genético, no sindrómico, del desarrollo del segmento anterior del ojo, caracterizado por aumento bilateral del diámetro corneal (> 12,5 mm) y por una cámara ocular anterior profunda, sin aumento de la presión intraocular. Puede manifestarse con miopía de leve a moderada, así como fotofobia e iridodonesis (debido a la hipoplasia del iris). Las complicaciones asociadas incluyen dislocación de la lente, desprendimiento de retina, desarrollo de cataratas preseniles y glaucoma secundario.","Spanish_Disease_Name__c":"megalocórnea aislada congénita","Spanish_GARD_Synonym__c":"megaloftalmia anterior congénita","Category_Linearization__c":"ORPHA:93890","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":"Isolated congenital megalocornea affects the cornea, the part of the eye that lets in light. The symptoms of Isolated congenital megalocornea include mild nearsightedness, light sensitivity, and/or unusual vibration of the iris. At birth, the corneas are thin and enlarged. Cataracts may develop during adulthood. Other complications may include other cornea abnormalities, lens dislocation, and break down of the iris. Isolated congenital megalocornea occurs when the CHRDL1 gene is not working correctly. It is inherited in an X-linked recessive pattern. Diagnosis is made through a clinical examination and confirmed by DNA testing.","Curated_Disease_Description_Source__c":"GARD:0012648","GARD_Synonym__c":"congenital anterior megalophthalmia; megalocornea 1, x-linked, x-linked recessive; mgc1","Name":"Isolated congenital megalocornea","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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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/0012648","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518341","Source__c":"C4518341","Xref__c":"C4518341"},{"URL__c":"https://www.omim.org/entry/309300","Source__c":"MONDO:0010649; ORPHA:91489","Xref__c":"OMIM:309300"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=734026006","Source__c":"C4518341; MONDO:0010649","Xref__c":"734026006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1385311","Source__c":"C4518341","Xref__c":"MEDGEN:1385311"},{"URL__c":"https://www.orpha.net/en/disease/detail/91489","Source__c":"C4518341; MONDO:0010649; ORPHA:91489","Xref__c":"ORPHA:91489"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010649","Source__c":"GARD:0012648","Xref__c":"MONDO:0010649"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHRDL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:309300","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000485","HPO_Synonym__c":"Anterior megalophthalmos; Enlarged cornea; Increased corneal diameter; Macrocornea","HPO_Name__c":"Megalocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","Feature__r":{"HPO_Description__c":"Partial dislocation of the lens of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001132","HPO_Synonym__c":"Partially dislocated lens","HPO_Name__c":"Lens subluxation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","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":"OMIM:309300","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001084","HPO_Synonym__c":"Anterior embryotoxon; Arcus lipoidis; Arcus senilis; Corneal annulus; Gerontoxon","HPO_Name__c":"Corneal arcus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007836","HPO_Name__c":"Mosaic corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012805","HPO_Name__c":"Iris transillumination defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","Feature__r":{"HPO_Description__c":"Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100693","HPO_Name__c":"Iridodonesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","Feature__r":{"HPO_Description__c":"Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007765","HPO_Name__c":"Deep anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","Feature__r":{"HPO_Description__c":"A decreased anteroposterior thickness of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100689","HPO_Synonym__c":"Thin cornea","HPO_Name__c":"Decreased corneal thickness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","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":"OMIM:309300","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309300","Feature__r":{"HPO_Description__c":"Abnormal (non-physiological) constriction of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000616","HPO_Synonym__c":"Constricted pupils; Pupillary constriction","HPO_Name__c":"Miosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye"]},"synonyms":["congenital anterior megalophthalmia"," megalocornea 1, x-linked, x-linked recessive"," mgc1"]}