{"Name":"Anterior segment dysgenesis","DiseaseID__c":"GARD:0010025","id":10025,"encodedName":"anterior-segment-dysgenesis","IsDeleted":false,"Disease_Name_Full__c":"Anterior segment dysgenesis","Xref_IDs__c":"65075004; C1862839; DOID:0060648; MEDGEN:350766; MONDO:0019503; OMIMPS:107250; ORPHA:88632","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019503","Disease_Description__c":"A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).","GARD_Name__c":"Anterior segment dysgenesis","GARD_Synonym__c":"anterior chamber cleavage defect; anterior chamber cleavage disorder; anterior chamber malformation; anterior chamber mesodermal anomalies; anterior segment developmental abnormality; anterior segment developmental anomaly; anterior segment mesenchymal dysgenesis; anterior segment mesencyhmal dysgenesis; anterior segment ocular dysgenesis; asgd; asmd; asod; familial ocular anterior segment mesenchymal dysgenesis; ocular anterior segment dysgenesis","Curated_Disease_Description_Source__c":"GARD:0010025","Curated_Disease_Description__c":"Anterior segment developmental anomaly (ASD) refers to a spectrum of disorders that affect the development of the front of the eye (the anterior segment), which includes the cornea, iris, ciliary body, and lens. The specific eye abnormalities (alone or in combination) vary depending on the subtype of ASD and genetic cause, and some types may also be associated with neurological abnormalities. Glaucoma develops in approximately 60% of people with ASD, during infancy or much later. Specific eye signs and symptoms of ASD may include: Underdevelopment of the iris (iris hypoplasia). An enlarged or reduced cornea diameter. Growth of new blood vessels (vascularization) and opacity in the cornea. Posterior embryotoxon (a thickened and displaced Schwalbe's line). Corectopia (displacement of the pupil). Polycoria (more than one pupillary opening). An abnormal iridocorneal angle (the angle formed by the iris and cornea). Ectopia lentis (displacement of the lens). Aphakia (absent lens). Cataracts. Anterior synechiae (when the iris adheres to the cornea). Posterior keratoconus (thinning of the cornea). Individual disorders within the ASD spectrum include Axenfeld-Rieger syndrome (which includes disorders formerly known as Axenfeld anomaly, Axenfeld syndrome, Rieger anomaly, Rieger syndrome, and iridogoniodysgenesis) and Peters anomaly. ASD may be caused by genetic changes in any of several genes and inheritance can be autosomal dominant or autosomal recessive, depending on the responsible gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:88632","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019503","ORPHANET_ID__c":"ORPHA:88632","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anomalía del desarrollo del segmento anterior","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anomalía del desarrollo del segmento anterior","Spanish_GARD_Synonym__c":"disgenesia del segmento anterior","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":"Anterior segment developmental anomaly (ASD) refers to a spectrum of disorders that affect the development of the front of the eye (the anterior segment), which includes the cornea, iris, ciliary body, and lens. The specific eye abnormalities (alone or in combination) vary depending on the subtype of ASD and genetic cause, and some types may also be associated with neurological abnormalities. Glaucoma develops in approximately 60% of people with ASD, during infancy or much later. Specific eye signs and symptoms of ASD may include: Underdevelopment of the iris (iris hypoplasia). An enlarged or reduced cornea diameter. Growth of new blood vessels (vascularization) and opacity in the cornea. Posterior embryotoxon (a thickened and displaced Schwalbe's line). Corectopia (displacement of the pupil). Polycoria (more than one pupillary opening). An abnormal iridocorneal angle (the angle formed by the iris and cornea). Ectopia lentis (displacement of the lens). Aphakia (absent lens). Cataracts. Anterior synechiae (when the iris adheres to the cornea). Posterior keratoconus (thinning of the cornea). Individual disorders within the ASD spectrum include Axenfeld-Rieger syndrome (which includes disorders formerly known as Axenfeld anomaly, Axenfeld syndrome, Rieger anomaly, Rieger syndrome, and iridogoniodysgenesis) and Peters anomaly. ASD may be caused by genetic changes in any of several genes and inheritance can be autosomal dominant or autosomal recessive, depending on the responsible gene.","Curated_Disease_Description_Source__c":"GARD:0010025","GARD_Synonym__c":"anterior chamber cleavage defect; anterior chamber cleavage disorder; anterior chamber malformation; anterior chamber mesodermal anomalies; anterior segment developmental abnormality; anterior segment developmental anomaly; anterior segment mesenchymal dysgenesis; anterior segment mesencyhmal dysgenesis; anterior segment ocular dysgenesis; asgd; asmd; asod; familial ocular anterior segment mesenchymal dysgenesis; ocular anterior segment dysgenesis","Name":"Anterior segment dysgenesis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"The Vision of Children Foundation","Website__c":"https://www.visionofchildren.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":"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:88632"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1862839"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS107250","Source__c":"MONDO:0019503","Xref__c":"OMIMPS:107250"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060648","Source__c":"MONDO:0019503","Xref__c":"DOID:0060648"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862839","Source__c":"C1862839","Xref__c":"C1862839"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=65075004","Source__c":"MONDO:0019503","Xref__c":"65075004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350766","Source__c":"C1862839","Xref__c":"MEDGEN:350766"},{"URL__c":"https://www.orpha.net/en/disease/detail/88632","Source__c":"C1862839; MONDO:0019503; ORPHA:88632","Xref__c":"ORPHA:88632"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019503","Source__c":"GARD:0010025","Xref__c":"MONDO:0019503"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007700","Source__c":"C1862839","Xref__c":"HP:0007700"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["anterior chamber cleavage defect"," anterior chamber cleavage disorder"," anterior chamber malformation"," anterior chamber mesodermal anomalies"," anterior segment developmental abnormality"," anterior segment developmental anomaly"," anterior segment mesenchymal dysgenesis"," anterior segment mesencyhmal dysgenesis"," anterior segment ocular dysgenesis"," asgd"," asmd"," asod"," familial ocular anterior segment mesenchymal dysgenesis"," ocular anterior segment dysgenesis"]}