{"Name":"Anterior segment dysgenesis 8","DiseaseID__c":"GARD:0017954","id":17954,"encodedName":"anterior-segment-dysgenesis-8","IsDeleted":false,"Disease_Name_Full__c":"Anterior segment dysgenesis 8","Xref_IDs__c":"C4310622; DOID:0080613; MEDGEN:934589; MONDO:0015017; OMIM:617319; ORPHA:519388","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0015017","Disease_Description__c":"Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.","GARD_Name__c":"Anterior segment dysgenesis 8","GARD_Synonym__c":"anterior segment dysgenesis caused by mutation in cpamd8; anterior segment dysgenesis type 8; asgd8; autosomal recessive anterior segment dysgenesis; autosomal recessive dysgenesis of anterior segment of eye; cpamd8 anterior segment dysgenesis; cpamd8-related anterior segment dysgenesis","Curated_Disease_Description_Source__c":"ORPHA:519388","Curated_Disease_Description__c":"A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:519388","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015017","ORPHANET_ID__c":"ORPHA:519388","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disgenesia del segmento anterior autosómica recesiva","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"disgenesia del segmento anterior autosómica recesiva","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 rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.","Curated_Disease_Description_Source__c":"ORPHA:519388","GARD_Synonym__c":"anterior segment dysgenesis caused by mutation in cpamd8; anterior segment dysgenesis type 8; asgd8; autosomal recessive anterior segment dysgenesis; autosomal recessive dysgenesis of anterior segment of eye; cpamd8 anterior segment dysgenesis; cpamd8-related anterior segment dysgenesis","Name":"Anterior segment dysgenesis 8","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.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":"Adolescent","Provided_By__c":"ORPHA:519388"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:519388"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:519388"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4310622","Source__c":"C4310622","Xref__c":"C4310622"},{"URL__c":"https://www.omim.org/entry/617319","Source__c":"C4310622; MONDO:0015017; ORPHA:519388","Xref__c":"OMIM:617319"},{"URL__c":"https://www.orpha.net/en/disease/detail/519388","Source__c":"C4310622; MONDO:0015017; ORPHA:519388","Xref__c":"ORPHA:519388"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=934589","Source__c":"C4310622","Xref__c":"MEDGEN:934589"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080613","Source__c":"MONDO:0015017","Xref__c":"DOID:0080613"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197358003","Source__c":"C4310622","Xref__c":"1197358003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015017","Source__c":"GARD:0017954","Xref__c":"MONDO:0015017"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CPAMD8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100693","HPO_Name__c":"Iridodonesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617319","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal smallness of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012376","HPO_Synonym__c":"Small lens","HPO_Name__c":"Microphakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012805","HPO_Name__c":"Iris transillumination defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617319","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009917","HPO_Name__c":"Persistent pupillary membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617319","HPO_Frequency__c":"Very frequent (80-99%)","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:617319","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001083","HPO_Synonym__c":"Abnormality of lens position; Lens dislocation","HPO_Name__c":"Ectopia lentis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital underdevelopment of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007676","HPO_Synonym__c":"Hypoplastic iris; Iris hypoplasia; Underdeveloped iris","HPO_Name__c":"Hypoplasia of the iris","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001093","HPO_Name__c":"Optic nerve dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of iris pigment epithelium on the anterior surface of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025358","HPO_Synonym__c":"Ectropion uveae","HPO_Name__c":"Uveal ectropion","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["anterior segment dysgenesis caused by mutation in cpamd8"," anterior segment dysgenesis type 8"," asgd8"," autosomal recessive anterior segment dysgenesis"," autosomal recessive dysgenesis of anterior segment of eye"," cpamd8 anterior segment dysgenesis"," cpamd8-related anterior segment dysgenesis"]}