{"Name":"Helicoid peripapillary chorioretinal degeneration","DiseaseID__c":"GARD:0016757","id":16757,"encodedName":"helicoid-peripapillary-chorioretinal-degeneration","IsDeleted":false,"Disease_Name_Full__c":"Helicoid peripapillary chorioretinal degeneration","Xref_IDs__c":"724384008; C1862382; C566236; DOID:0111228; MEDGEN:354733; MONDO:0007176; OMIM:108985; ORPHA:86813","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007176","Disease_Description__c":"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.","GARD_Name__c":"Helicoid peripapillary chorioretinal degeneration","GARD_Synonym__c":"atrophia areata; helicoidal peripapillary chorioretinal degeneration; peripapillary chorioretinal degeneration, icelandic type; scra; sveinsson chorioretinal atrophy","Curated_Disease_Description_Source__c":"MONDO:0007176","Curated_Disease_Description__c":"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:86813","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007176","ORPHANET_ID__c":"ORPHA:86813","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Degeneración helicoidal peripapilar coriorretiniana","Spanish_Description_Source__c":"ORPHA:86813","Spanish_Description__c":"La degeneración helicoidal peripapilar coriorretiniana es una enfermedad degenerativa coriorretiniana hereditaria autosómica dominante poco frecuente, que se presenta al nacimiento o en la infancia, y que se caracteriza por atrofia bilateral progresiva de la retina y la coroides. Se manifiesta en forma de lesiones en el nervio óptico y el fondo ocular periférico y da lugar a pérdida de visión central. Las cataratas polares anteriores congénitas están asociadas a veces con esta enfermedad.","Spanish_Disease_Name__c":"degeneración helicoidal peripapilar coriorretiniana","Spanish_GARD_Synonym__c":"atrofia coriorretiniana de sveinsson; scra","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":"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.","Curated_Disease_Description_Source__c":"MONDO:0007176","GARD_Synonym__c":"atrophia areata; helicoidal peripapillary chorioretinal degeneration; peripapillary chorioretinal degeneration, icelandic type; scra; sveinsson chorioretinal atrophy","Name":"Helicoid peripapillary chorioretinal degeneration","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:86813"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:86813"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/108985","Source__c":"C1862382; MONDO:0007176; ORPHA:86813","Xref__c":"OMIM:108985"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862382","Source__c":"C1862382","Xref__c":"C1862382"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111228","Source__c":"MONDO:0007176","Xref__c":"DOID:0111228"},{"URL__c":"https://www.orpha.net/en/disease/detail/86813","Source__c":"C1862382; MONDO:0007176; ORPHA:86813","Xref__c":"ORPHA:86813"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566236","Source__c":"MONDO:0007176","Xref__c":"C566236"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=354733","Source__c":"C1862382","Xref__c":"MEDGEN:354733"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724384008","Source__c":"C1862382; MONDO:0007176","Xref__c":"724384008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007176","Source__c":"GARD:0016757","Xref__c":"MONDO:0007176"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TEAD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:108985","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:108985","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:108985","Feature__r":{"HPO_Description__c":"Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007950","HPO_Name__c":"Peripapillary chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["atrophia areata"," helicoidal peripapillary chorioretinal degeneration"," peripapillary chorioretinal degeneration, icelandic type"," scra"," sveinsson chorioretinal atrophy"]}