{"Name":"Hereditary glaucoma","DiseaseID__c":"GARD:0002486","id":2486,"encodedName":"hereditary-glaucoma","IsDeleted":false,"Disease_Name_Full__c":"Hereditary glaucoma","Xref_IDs__c":"C3711383; C580055; MEDGEN:777991; MONDO:0018174; ORPHA:359","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018174","Disease_Description__c":"A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.","GARD_Name__c":"Hereditary glaucoma","GARD_Synonym__c":"hereditary glaucoma (disease); pediatric-onset glaucoma of genetic origin","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term 'early-onset glaucoma' may be used when the disorder appears before the age of 40. In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes. Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity. Structural abnormalities that impede fluid drainage in the eye increase ocular pressure. These abnormalities may be present at birth and usually become apparent during the first year of life. Such structural abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 3 without other associated abnormalities, it is called primary congenital glaucoma. Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:359","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018174","ORPHANET_ID__c":"ORPHA:359","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Glaucoma de inicio pediátrico de origen genético","Spanish_Description_Source__c":"ORPHA:359","Spanish_Description__c":"Es un grupo clínicamente diverso de trastornos oculares raros de predisposición genética caracterizado por una presión intraocular (PIO) elevada y cambios glaucomatosos en la cabeza del nervio óptico, que provoca defectos en el campo visual, pérdida visual y ceguera. El glaucoma hereditario se puede subclasificar como primario (glaucoma congénito, glaucoma juvenil) o secundario en función de la presencia o ausencia de anomalías sistémicas u otras anomalías oculares (iridogoniodisgenesia, síndrome de Stickler, síndrome de Coats). El cuadro clínico es variable y se basa en la edad, la gravedad del glaucoma, la presencia de anomalías oculares y el desarrollo de anomalías secundarias asociadas a la PIO.","Spanish_Disease_Name__c":"glaucoma de inicio pediátrico de origen genético","Spanish_GARD_Synonym__c":"glaucoma hereditario","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":"Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term 'early-onset glaucoma' may be used when the disorder appears before the age of 40. In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes. Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity. Structural abnormalities that impede fluid drainage in the eye increase ocular pressure. These abnormalities may be present at birth and usually become apparent during the first year of life. Such structural abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 3 without other associated abnormalities, it is called primary congenital glaucoma. Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"hereditary glaucoma (disease); pediatric-onset glaucoma of genetic origin","Name":"Hereditary glaucoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"BrightFocus Foundation","Website__c":"https://www.brightfocus.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:359"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/359","Source__c":"C3711383; MONDO:0018174; ORPHA:359","Xref__c":"ORPHA:359"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580055","Source__c":"MONDO:0018174","Xref__c":"C580055"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=777991","Source__c":"C3711383","Xref__c":"MEDGEN:777991"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3711383","Source__c":"C3711383","Xref__c":"C3711383"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018174","Source__c":"GARD:0002486","Xref__c":"MONDO:0018174"},{"URL__c":"https://medlineplus.gov/genetics/condition/early-onset-glaucoma","Source__c":"GARD:0002486","Xref__c":"https://medlineplus.gov/genetics/condition/early-onset-glaucoma"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["hereditary glaucoma (disease)"," pediatric-onset glaucoma of genetic origin"]}