{"Name":"Iridocorneal endothelial syndrome","DiseaseID__c":"GARD:0000060","id":60,"encodedName":"iridocorneal-endothelial-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Iridocorneal endothelial syndrome","Xref_IDs__c":"129623003; C1096100; C84792; D057129; MEDGEN:242751; MONDO:0018988; ORPHA:64734","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018988","Disease_Description__c":"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications","GARD_Name__c":"Iridocorneal endothelial syndrome","GARD_Synonym__c":"ice (irido-corneo-endothelial) syndrome; ice (iridocorneal endothelial) syndrome; ice syndrome; irido-corneo-endothelial syndrome","Curated_Disease_Description_Source__c":"GARD:0000060","Curated_Disease_Description__c":"Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ICE syndrome, is more common in women than men and is usually present in only one eye. The condition is actually a grouping of three closely linked conditions: Cogan-Reese syndrome; Chandler's syndrome; and essential (progressive) iris atrophy. The cause of ICE syndrome is unknown, however there is a theory that it is triggered by a virus that leads to swelling of the cornea.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:64734","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018988","ORPHANET_ID__c":"ORPHA:64734","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome endotelial iridocorneal","Spanish_Description_Source__c":"ORPHA:64734","Spanish_Description__c":"El síndrome endotelial iridocorneal (ICE) describe un grupo de endoteliopatías proliferativas corneales progresivas compuesto por el síndrome de Chandler, el síndrome de Cogan-Reese y la atrofia esencial del iris (consulte estos términos), que afecta principalmente a mujeres adultas jóvenes, y que se caracteriza por agujeros en el iris y atrofia, distorsión papilar, sinequia anterior, edema corneal además de, con frecuencia, complicaciones como glaucoma secundario y descompensación corneal.","Spanish_Disease_Name__c":"síndrome endotelial iridocorneal","Spanish_GARD_Synonym__c":"síndrome ice","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":"Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ICE syndrome, is more common in women than men and is usually present in only one eye. The condition is actually a grouping of three closely linked conditions: Cogan-Reese syndrome; Chandler's syndrome; and essential (progressive) iris atrophy. The cause of ICE syndrome is unknown, however there is a theory that it is triggered by a virus that leads to swelling of the cornea.","Curated_Disease_Description_Source__c":"GARD:0000060","GARD_Synonym__c":"ice (irido-corneo-endothelial) syndrome; ice (iridocorneal endothelial) syndrome; ice syndrome; irido-corneo-endothelial syndrome","Name":"Iridocorneal endothelial syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Glaucoma Research Foundation","Website__c":"http://www.glaucoma.org"},{"Account_Name__c":"Cornea Research Foundation of America","Website__c":"http://www.cornea.org"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:64734"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=242751","Source__c":"C1096100","Xref__c":"MEDGEN:242751"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84792","Source__c":"C1096100; MONDO:0018988","Xref__c":"C84792"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=129623003","Source__c":"C1096100; MONDO:0018988","Xref__c":"129623003"},{"URL__c":"https://www.orpha.net/en/disease/detail/64734","Source__c":"C1096100; MONDO:0018988; ORPHA:64734","Xref__c":"ORPHA:64734"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C057129","Source__c":"C1096100; MONDO:0018988","Xref__c":"D057129"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1096100","Source__c":"C1096100","Xref__c":"C1096100"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018988","Source__c":"GARD:0000060","Xref__c":"MONDO:0018988"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011483","HPO_Synonym__c":"Anterior synechiae; Cornea-iris adhesion; Iridocorneal adhesions; Iridocorneal synechia","HPO_Name__c":"Anterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","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:64734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:64734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of iris pigment epithelium on the anterior surface of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025358","HPO_Synonym__c":"Ectropion uveae","HPO_Name__c":"Uveal ectropion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of iris tissue (atrophy)","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001089","HPO_Synonym__c":"Iris degeneration","HPO_Name__c":"Iris atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011525","HPO_Synonym__c":"Eye freckle","HPO_Name__c":"Iris nevus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011484","HPO_Synonym__c":"Iridolenticular adhesions; Posterior synechiae","HPO_Name__c":"Posterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal migration of corneal endothelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011489","HPO_Name__c":"Abnormal migration of corneal endothelium","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Occasional (5-29%)","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:64734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A malposition of the pupil owing to a developmental defect of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009918","HPO_Synonym__c":"Corectopia; Displaced pupil","HPO_Name__c":"Ectopia pupillae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007818","HPO_Synonym__c":"Ring iris heterochromia","HPO_Name__c":"Central heterochromia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal accumulation of fluid and swelling of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012040","HPO_Name__c":"Corneal stromal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deviation from the normal circular shape of the pupil","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025309","HPO_Synonym__c":"Irregular pupil","HPO_Name__c":"Abnormal pupil shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Multiple pupils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011500","HPO_Synonym__c":"Multiple pupils","HPO_Name__c":"Polycoria","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":["ice (irido-corneo-endothelial) syndrome"," ice (iridocorneal endothelial) syndrome"," ice syndrome"," irido-corneo-endothelial syndrome"]}