{"Name":"Anterior segment dysgenesis 3","DiseaseID__c":"GARD:0002978","id":2978,"encodedName":"anterior-segment-dysgenesis-3","IsDeleted":false,"Disease_Name_Full__c":"Anterior segment dysgenesis 3","Xref_IDs__c":"C535535; C5975707; DOID:0080608; MEDGEN:1875235; MONDO:0024456; OMIM:601631","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0024456","Disease_Description__c":"An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)","GARD_Name__c":"Anterior segment dysgenesis 3","GARD_Synonym__c":"anterior segment dysgenesis 3, multiple subtypes; asgd3; foxc1 iridogoniodysgenesis; glaucoma iridogoniodysplasia, familial; igda; igda syndrome; irid1; iridogoniodysgenesis anomaly, autosomal dominant; iridogoniodysgenesis caused by mutation in foxc1; iridogoniodysgenesis type 1; iridogoniodysgenesis, type 1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Anterior segment dysgenesis 3 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe 'brown' irides as a dark, chocolate color and 'blue' irides as a very dark, slate gray. The iris also lacks the usual pattern and has a smooth appearance. Anterior segment dysgenesis 3 is caused by changes in the FOXC1 gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601631","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0024456","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":"Anterior segment dysgenesis 3 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe 'brown' irides as a dark, chocolate color and 'blue' irides as a very dark, slate gray. The iris also lacks the usual pattern and has a smooth appearance. Anterior segment dysgenesis 3 is caused by changes in the FOXC1 gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"anterior segment dysgenesis 3, multiple subtypes; asgd3; foxc1 iridogoniodysgenesis; glaucoma iridogoniodysplasia, familial; igda; igda syndrome; irid1; iridogoniodysgenesis anomaly, autosomal dominant; iridogoniodysgenesis caused by mutation in foxc1; iridogoniodysgenesis type 1; iridogoniodysgenesis, type 1","Name":"Anterior segment dysgenesis 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Glaucoma Research Foundation","Website__c":"http://www.glaucoma.org"},{"Account_Name__c":"Glaucoma UK","Website__c":"https://glaucoma.uk/"},{"Account_Name__c":"BrightFocus Foundation","Website__c":"https://www.brightfocus.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002978","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535535","Source__c":"MONDO:0024456","Xref__c":"C535535"},{"URL__c":"https://www.omim.org/entry/601631","Source__c":"C5975707; MONDO:0024456","Xref__c":"OMIM:601631"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080608","Source__c":"MONDO:0024456","Xref__c":"DOID:0080608"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0024456","Source__c":"GARD:0002978","Xref__c":"MONDO:0024456"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1875235","Source__c":"C5975707","Xref__c":"MEDGEN:1875235"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5975707","Source__c":"C5975707","Xref__c":"C5975707"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/foxc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601631","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000659","HPO_Name__c":"Peters anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601631","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":"OMIM:601631","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601631","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001492","HPO_Name__c":"Axenfeld anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601631","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002280","HPO_Synonym__c":"Large cisterna magna","HPO_Name__c":"Enlarged cisterna magna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601631","Feature__r":{"HPO_Description__c":"A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000558","HPO_Name__c":"Rieger anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601631","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:601631","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000627","HPO_Synonym__c":"Embryotoxon","HPO_Name__c":"Posterior embryotoxon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601631","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:601631","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007905","HPO_Synonym__c":"Abnormality of iris blood vessels","HPO_Name__c":"Abnormal iris vasculature","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["anterior segment dysgenesis 3, multiple subtypes"," asgd3"," foxc1 iridogoniodysgenesis"," glaucoma iridogoniodysplasia, familial"," igda"," igda syndrome"," irid1"," iridogoniodysgenesis anomaly, autosomal dominant"," iridogoniodysgenesis caused by mutation in foxc1"," iridogoniodysgenesis type 1"," iridogoniodysgenesis, type 1"]}