{"Name":"Congenital primary aphakia","DiseaseID__c":"GARD:0009952","id":9952,"encodedName":"congenital-primary-aphakia","IsDeleted":false,"Disease_Name_Full__c":"Congenital primary aphakia","Xref_IDs__c":"35387008; C1853230; C35172; C537786; DOID:0080607; DOID:11367; MEDGEN:339935; MONDO:0012456; OMIM:610256; ORPHA:83461; Q12.3","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012456","Disease_Description__c":"A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.","GARD_Name__c":"Congenital primary aphakia","GARD_Synonym__c":"anterior segment dysgenesis 2; anterior segment dysgenesis 2, multiple subtypes; aphakia, congenital primary; congenital absence of lens; congenital aphakia","Curated_Disease_Description_Source__c":"GARD:0009952","Curated_Disease_Description__c":"Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Genetic changes in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:83461","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012456","ORPHANET_ID__c":"ORPHA:83461","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Afaquia primaria congénita","Spanish_Description_Source__c":"ORPHA:83461","Spanish_Description__c":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por la ausencia del cristalino. La CPAK (por sus siglas en inglés) puede estar asociada a defectos oculares secundarios variables.","Spanish_Disease_Name__c":"afaquia primaria congénita","Spanish_GARD_Synonym__c":null,"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":"Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Genetic changes in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion.","Curated_Disease_Description_Source__c":"GARD:0009952","GARD_Synonym__c":"anterior segment dysgenesis 2; anterior segment dysgenesis 2, multiple subtypes; aphakia, congenital primary; congenital absence of lens; congenital aphakia","Name":"Congenital primary aphakia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"Infancy","Provided_By__c":"ORPHA:83461"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:83461"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:83461"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1853230"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009952","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853230","Source__c":"C1853230","Xref__c":"C1853230"},{"URL__c":"https://www.orpha.net/en/disease/detail/83461","Source__c":"C1853230; MONDO:0012456; ORPHA:83461","Xref__c":"ORPHA:83461"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080607","Source__c":"MONDO:0012456","Xref__c":"DOID:0080607"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=339935","Source__c":"C1853230","Xref__c":"MEDGEN:339935"},{"URL__c":"https://www.omim.org/entry/610256","Source__c":"C1853230; MONDO:0012456; ORPHA:83461","Xref__c":"OMIM:610256"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35172","Source__c":"MONDO:0012456","Xref__c":"C35172"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q12.3","Source__c":"MONDO:0012456","Xref__c":"Q12.3"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537786","Source__c":"MONDO:0012456","Xref__c":"C537786"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11367","Source__c":"MONDO:0012456","Xref__c":"DOID:11367"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=35387008","Source__c":"MONDO:0012456","Xref__c":"35387008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012456","Source__c":"GARD:0009952","Xref__c":"MONDO:0012456"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXE3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A rupture of the cornea through which a portion of the iris protrudes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100583","HPO_Synonym__c":"Iridocele","HPO_Name__c":"Corneal perforation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000647","HPO_Synonym__c":"Hardening of skin and connective tissue","HPO_Name__c":"Sclerocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011483","HPO_Synonym__c":"Anterior synechiae; Cornea-iris adhesion; Iridocorneal adhesions; Iridocorneal synechia","HPO_Name__c":"Anterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal growth and differentiation, structure and appearance of the retina present from birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007973","HPO_Synonym__c":"Dysplasia/hypoplasia of the retina; Retinal dysgenesis","HPO_Name__c":"Retinal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the crystalline lens of the eye as a result of a developmental defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007707","HPO_Synonym__c":"Lens agenesis","HPO_Name__c":"Congenital aphakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001087","HPO_Synonym__c":"Childhood glaucoma; Infantile glaucoma; Pediatric glaucoma","HPO_Name__c":"Developmental glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cleft of the optic nerve that extends inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000588","HPO_Synonym__c":"Coloboma of optic nerve; Optic disc coloboma; Optic nerve coloboma","HPO_Name__c":"Optic disc coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000526","HPO_Synonym__c":"Absent iris","HPO_Name__c":"Aniridia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000667","HPO_Name__c":"Phthisis bulbi","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the anterior segment of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008062","HPO_Name__c":"Aplasia/Hypoplasia affecting the anterior segment of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83461","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","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 2"," anterior segment dysgenesis 2, multiple subtypes"," aphakia, congenital primary"," congenital absence of lens"," congenital aphakia"]}