{"Name":"Glaucoma 3, primary infantile, B","DiseaseID__c":"GARD:0002490","id":2490,"encodedName":"glaucoma-3-primary-infantile-b","IsDeleted":false,"Disease_Name_Full__c":"Glaucoma 3, primary infantile, B","Xref_IDs__c":"C1832977; C536824; MEDGEN:331409; MONDO:0010968; OMIM:600975","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:600975","Disease_Description__c":"For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A ({231300}).","GARD_Name__c":"Glaucoma 3, primary infantile, B","GARD_Synonym__c":"glaucoma primary congenita type 3b; glaucoma, primary congenital, type b; glc3 type b; glc3b; primary congenital glaucoma type 3b","Curated_Disease_Description_Source__c":"OMIM:600975","Curated_Disease_Description__c":"This rare eye disease begins in infancy and affects the pressure and fluid inside the eye. It is marked by high pressure in the eye and enlargement of the whole eyeball. Babies may develop cloudy, swollen corneas, which are the clear front “windows” of the eyes. There can be tiny tears in a layer of the cornea, thinning of the white part of the eye at the front, and wearing down of the colored part of the eye (the iris). The front chamber of the eye, the space between the cornea and the iris, is unusually deep, while the back part of the eye is built normally except for continuing damage to the optic nerve, which carries visual signals to the brain. Symptoms can include strong sensitivity to light, frequent squeezing or blinking of the eyelids, and lots of tearing. The disease is usually diagnosed in the first year of life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:600975","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010968","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare eye disease begins in infancy and affects the pressure and fluid inside the eye. It is marked by high pressure in the eye and enlargement of the whole eyeball. Babies may develop cloudy, swollen corneas, which are the clear front “windows” of the eyes. There can be tiny tears in a layer of the cornea, thinning of the white part of the eye at the front, and wearing down of the colored part of the eye (the iris). The front chamber of the eye, the space between the cornea and the iris, is unusually deep, while the back part of the eye is built normally except for continuing damage to the optic nerve, which carries visual signals to the brain. Symptoms can include strong sensitivity to light, frequent squeezing or blinking of the eyelids, and lots of tearing. The disease is usually diagnosed in the first year of life.","Curated_Disease_Description_Source__c":"OMIM:600975","GARD_Synonym__c":"glaucoma primary congenita type 3b; glaucoma, primary congenital, type b; glc3 type b; glc3b; primary congenital glaucoma type 3b","Name":"Glaucoma 3, primary infantile, B","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832977"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002490","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1135","Source__c":"Gene Review","Xref__c":"NBK1135"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536824","Source__c":"MONDO:0010968","Xref__c":"C536824"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331409","Source__c":"C1832977","Xref__c":"MEDGEN:331409"},{"URL__c":"https://www.omim.org/entry/600975","Source__c":"C1832977; MONDO:0010968","Xref__c":"OMIM:600975"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832977","Source__c":"C1832977","Xref__c":"C1832977"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010968","Source__c":"GARD:0002490","Xref__c":"MONDO:0010968"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LTBP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CYP1B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyp1b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TEK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tek","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600975","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008007","HPO_Name__c":"Primary congenital glaucoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["glaucoma primary congenita type 3b"," glaucoma, primary congenital, type b"," glc3 type b"," glc3b"," primary congenital glaucoma type 3b"]}