{"Name":"Glaucoma of childhood","DiseaseID__c":"GARD:0016883","id":16883,"encodedName":"glaucoma-of-childhood","IsDeleted":false,"Disease_Name_Full__c":"Glaucoma of childhood","Xref_IDs__c":"71111008; C2981140; DOID:1068; MEDGEN:453382; MONDO:0020367; ORPHA:98977","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":2,"Description_Source__c":"MONDO:0020367","Disease_Description__c":"A rare primary early-onset glaucoma characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.","GARD_Name__c":"Glaucoma of childhood","GARD_Synonym__c":"childhood glaucoma; childhood glaucoma (disease); developmental glaucoma; glaucoma (disease) of childhood; infantile glaucoma; joag; juvenile glaucoma; juvenile open angle glaucoma; paediatric glaucoma; paediatric glaucoma (disease); pediatric glaucoma; pediatric glaucoma (disease)","Curated_Disease_Description_Source__c":"ORPHA:98977","Curated_Disease_Description__c":"A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:98977","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020367","ORPHANET_ID__c":"ORPHA:98977","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Glaucoma juvenil","Spanish_Description_Source__c":"ORPHA:98977","Spanish_Description__c":"Es un glaucoma primario poco frecuente de inicio precoz caracterizado por su presentación temprana, un aumento de la presión intraocular grave y de progresión rápida que provoca la excavación del nervio óptico y, en ausencia de tratamiento, marcada discapacidad visual.","Spanish_Disease_Name__c":"glaucoma juvenil","Spanish_GARD_Synonym__c":null,"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":"A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.","Curated_Disease_Description_Source__c":"ORPHA:98977","GARD_Synonym__c":"childhood glaucoma; childhood glaucoma (disease); developmental glaucoma; glaucoma (disease) of childhood; infantile glaucoma; joag; juvenile glaucoma; juvenile open angle glaucoma; paediatric glaucoma; paediatric glaucoma (disease); pediatric glaucoma; pediatric glaucoma (disease)","Name":"Glaucoma of childhood","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98977"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98977"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/98977","Source__c":"C2981140; MONDO:0020367; ORPHA:98977","Xref__c":"ORPHA:98977"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=71111008","Source__c":"C2981140; MONDO:0020367","Xref__c":"71111008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1068","Source__c":"MONDO:0020367","Xref__c":"DOID:1068"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2981140","Source__c":"C2981140","Xref__c":"C2981140"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=453382","Source__c":"C2981140","Xref__c":"MEDGEN:453382"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001087","Source__c":"C2981140","Xref__c":"HP:0001087"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020367","Source__c":"GARD:0016883","Xref__c":"MONDO:0020367"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYOC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myoc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EFEMP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007854","HPO_Name__c":"Glaucomatous visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012108","HPO_Name__c":"Open angle glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An area of depressed vision located at the point of fixation and that interferes with central vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000603","HPO_Synonym__c":"Central blind spot; Central scotomata","HPO_Name__c":"Central scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000587","HPO_Synonym__c":"Abnormality of the optic nerve; optic nerve abnormalities; Optic nerve issue","HPO_Name__c":"Abnormal optic nerve morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025326","HPO_Synonym__c":"Retinal artery occlusion","HPO_Name__c":"Retinal arterial occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007994","HPO_Synonym__c":"Kalnienk vision; Loss of peripheral vision","HPO_Name__c":"Peripheral visual field loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000525","HPO_Synonym__c":"Abnormality of the iris","HPO_Name__c":"Abnormality iris morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the temporal (lateral) portion of the optic disc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012511","HPO_Name__c":"Temporal optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001138","HPO_Synonym__c":"Damaged optic nerve","HPO_Name__c":"Optic neuropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012636","HPO_Synonym__c":"Retinal vein occlusion","HPO_Name__c":"Retinal venous occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Frequent (30-79%)","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:98977","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98977","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012796","HPO_Synonym__c":"Elevated cup to disk ratio; Increased cup disk ratio; Optic cupping","HPO_Name__c":"Increased cup-to-disc ratio","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["childhood glaucoma"," childhood glaucoma (disease)"," developmental glaucoma"," glaucoma (disease) of childhood"," infantile glaucoma"," joag"," juvenile glaucoma"," juvenile open angle glaucoma"," paediatric glaucoma"," paediatric glaucoma (disease)"," pediatric glaucoma"," pediatric glaucoma (disease)"]}