{"Name":"Foveal hypoplasia-presenile cataract syndrome","DiseaseID__c":"GARD:0000406","id":406,"encodedName":"foveal-hypoplasia-presenile-cataract-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Foveal hypoplasia-presenile cataract syndrome","Xref_IDs__c":"C2931644; C537858; MEDGEN:419129; MONDO:0016395; ORPHA:2253","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:2253","Disease_Description__c":"Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.","GARD_Name__c":"Foveal hypoplasia-presenile cataract syndrome","GARD_Synonym__c":"foveal hypoplasia with presenile cataract syndrome; o'donnell pappas syndrome; o'donnell-pappas syndrome","Curated_Disease_Description_Source__c":"ORPHA:2253","Curated_Disease_Description__c":"A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:2253","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016395","ORPHANET_ID__c":"ORPHA:2253","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoplasia foveal-catarata presenil","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hipoplasia foveal-catarata presenil","Spanish_GARD_Synonym__c":"síndrome de o'donnell-pappas","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 genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.","Curated_Disease_Description_Source__c":"ORPHA:2253","GARD_Synonym__c":"foveal hypoplasia with presenile cataract syndrome; o'donnell pappas syndrome; o'donnell-pappas syndrome","Name":"Foveal hypoplasia-presenile cataract syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2253"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3805604"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000406","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2253","Source__c":"C2931644; MONDO:0016395; ORPHA:2253","Xref__c":"ORPHA:2253"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931644","Source__c":"C2931644","Xref__c":"C2931644"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419129","Source__c":"C2931644","Xref__c":"MEDGEN:419129"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537858","Source__c":"MONDO:0016395","Xref__c":"C537858"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016395","Source__c":"GARD:0000406","Xref__c":"MONDO:0016395"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778042000","Source__c":"C2931644","Xref__c":"778042000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAX6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2253","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":"ORPHA:2253","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2253","HPO_Frequency__c":"Very frequent (80-99%)","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:2253","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007440","HPO_Name__c":"Generalized hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2253","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2253","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2253","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye"],"Account":["Retinal"]},"synonyms":["foveal hypoplasia with presenile cataract syndrome"," o'donnell pappas syndrome"," o'donnell-pappas syndrome"]}