{"Name":"Coats disease","DiseaseID__c":"GARD:0006121","id":6121,"encodedName":"coats-disease","IsDeleted":false,"Disease_Name_Full__c":"Coats disease","Xref_IDs__c":"360455002; C5964756; D058456; DOID:7765; MEDGEN:1870587; MONDO:0010269; OMIM:300216; ORPHA:190","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010269","Disease_Description__c":"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.","GARD_Name__c":"Coats disease","GARD_Synonym__c":"coats syndrome; coats' disease; coats' syndrome; congenital retinal telangiectasia; exudative retinopathy; leber miliary aneurysm; leber's miliary aneurysms; miliary aneurysms of retina; retinal telangiectasis","Curated_Disease_Description_Source__c":"GARD:0006121","Curated_Disease_Description__c":"Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most people begin showing symptoms in childhood. Early signs and symptoms vary but may include vision loss, \"crossed eyes\" (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Over time, Coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts). In most cases, only one eye is affected. Coats disease is not inherited and the underlying cause is not known. It has been theorized that some cases may be due to somatic genetic changes (acquired, not inherited) in the NDP gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:190","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010269","ORPHANET_ID__c":"ORPHA:190","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de coats","Spanish_Description_Source__c":"ORPHA:190","Spanish_Description__c":"La enfermedad de Coats (CD) es un trastorno idiopático que se caracteriza por una telangiectasia retiniana con deposición de exudados intrarretinianos o subrretinianos, que potencialmente conduce a un desprendimiento de retina y a ceguera unilateral. La CD es clásicamente una enfermedad aislada y unilateral que afecta a niños pequeños, por lo demás sanos.","Spanish_Disease_Name__c":"enfermedad de coats","Spanish_GARD_Synonym__c":null,"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":"Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most people begin showing symptoms in childhood. Early signs and symptoms vary but may include vision loss, \"crossed eyes\" (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Over time, Coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts). In most cases, only one eye is affected. Coats disease is not inherited and the underlying cause is not known. It has been theorized that some cases may be due to somatic genetic changes (acquired, not inherited) in the NDP gene.","Curated_Disease_Description_Source__c":"GARD:0006121","GARD_Synonym__c":"coats syndrome; coats' disease; coats' syndrome; congenital retinal telangiectasia; exudative retinopathy; leber miliary aneurysm; leber's miliary aneurysms; miliary aneurysms of retina; retinal telangiectasis","Name":"Coats disease","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":"Retina International","Website__c":"https://retina-international.org/"},{"Account_Name__c":"Jack McGovern Coats' Disease Foundation","Website__c":"https://coatsdiseasefoundation.org/"},{"Account_Name__c":"Pediatric Retinal Research Foundation","Website__c":"https://www.pediatricrrf.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:190"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0154832"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006121","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1331","Source__c":"Gene Review","Xref__c":"NBK1331"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C058456","Source__c":"C5964756; MONDO:0010269","Xref__c":"D058456"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=360455002","Source__c":"C5964756; MONDO:0010269","Xref__c":"360455002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A7765","Source__c":"MONDO:0010269","Xref__c":"DOID:7765"},{"URL__c":"https://www.omim.org/entry/300216","Source__c":"C5964756; MONDO:0010269; ORPHA:190","Xref__c":"OMIM:300216"},{"URL__c":"https://www.orpha.net/en/disease/detail/190","Source__c":"C5964756; MONDO:0010269","Xref__c":"ORPHA:190"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010269","Source__c":"GARD:0006121","Xref__c":"MONDO:0010269"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1870587","Source__c":"C5964756","Xref__c":"MEDGEN:1870587"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5964756","Source__c":"C5964756","Xref__c":"C5964756"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural abnormality of retinal vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008046","HPO_Synonym__c":"Abnormality of retina blood vessels; Abnormality of the retinal vasculature","HPO_Name__c":"Abnormal retinal vascular morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:190","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001103","HPO_Synonym__c":"Abnormality of the macula; Macula abnormality; Macular abnormality","HPO_Name__c":"Abnormal macular morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:190","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:190","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000593","HPO_Synonym__c":"Abnormality of the anterior chamber; Anterior chamber anomalies; Ocular anterior chamber abnormality","HPO_Name__c":"Abnormal anterior chamber morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:190","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:190","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008053","HPO_Synonym__c":"Absent/small iris; Absent/underdeveloped iris","HPO_Name__c":"Aplasia/Hypoplasia of the iris","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:190","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Retinal","Neuro-Ophthalmology","Vascular Neurology","Vascular Medicine","Pediatrics"],"Account":["Retinal"]},"synonyms":["coats syndrome"," coats' disease"," coats' syndrome"," congenital retinal telangiectasia"," exudative retinopathy"," leber miliary aneurysm"," leber's miliary aneurysms"," miliary aneurysms of retina"," retinal telangiectasis"]}