{"Name":"Anterior segment dysgenesis 4","DiseaseID__c":"GARD:0003026","id":3026,"encodedName":"anterior-segment-dysgenesis-4","IsDeleted":false,"Disease_Name_Full__c":"Anterior segment dysgenesis 4","Xref_IDs__c":"C1842031; DOID:0080609; MEDGEN:330750; MONDO:0007662; OMIM:137600","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007662","Disease_Description__c":"Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.","GARD_Name__c":"Anterior segment dysgenesis 4","GARD_Synonym__c":"asgd4; irid2; iridogoniodysgenesis caused by mutation in pitx2; iridogoniodysgenesis syndrome; iridogoniodysgenesis, type 2; iris hypoplasia; pitx2 iridogoniodysgenesis","Curated_Disease_Description_Source__c":"GARD:0003026","Curated_Disease_Description__c":"Anterior segment dysgenesis 4 is a rare condition that affects the eyes. 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 4 is caused by changes in the PITX2 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:137600","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007662","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 4 is a rare condition that affects the eyes. 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 4 is caused by changes in the PITX2 gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0003026","GARD_Synonym__c":"asgd4; irid2; iridogoniodysgenesis caused by mutation in pitx2; iridogoniodysgenesis syndrome; iridogoniodysgenesis, type 2; iris hypoplasia; pitx2 iridogoniodysgenesis","Name":"Anterior segment dysgenesis 4","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/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1842031"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003026","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842031","Source__c":"C1842031","Xref__c":"C1842031"},{"URL__c":"https://www.omim.org/entry/137600","Source__c":"C1842031; MONDO:0007662","Xref__c":"OMIM:137600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330750","Source__c":"C1842031","Xref__c":"MEDGEN:330750"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080609","Source__c":"MONDO:0007662","Xref__c":"DOID:0080609"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007662","Source__c":"GARD:0003026","Xref__c":"MONDO:0007662"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PITX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pitx2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:137600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137600","HPO_Frequency__c":"Very frequent (80-99%)","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:137600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007730","HPO_Synonym__c":"Light eye color; Reduced iris pigmentation","HPO_Name__c":"Iris hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137600","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137600","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["asgd4"," irid2"," iridogoniodysgenesis caused by mutation in pitx2"," iridogoniodysgenesis syndrome"," iridogoniodysgenesis, type 2"," iris hypoplasia"," pitx2 iridogoniodysgenesis"]}