{"Name":"Cone-rod dystrophy 3","DiseaseID__c":"GARD:0010653","id":10653,"encodedName":"cone-rod-dystrophy-3","IsDeleted":false,"Disease_Name_Full__c":"Cone-rod dystrophy 3","Xref_IDs__c":"C1858806; C565827; DOID:0111013; MEDGEN:349030; MONDO:0011395; OMIM:604116","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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011395","Disease_Description__c":"Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.","GARD_Name__c":"Cone-rod dystrophy 3","GARD_Synonym__c":"abca4 cone-rod dystrophy; cone-rod dystrophy caused by mutation in abca4; cone-rod dystrophy type 3; cord3","Curated_Disease_Description_Source__c":"MEDGEN:C1858806","Curated_Disease_Description__c":"Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:604116","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011395","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":"Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.","Curated_Disease_Description_Source__c":"MEDGEN:C1858806","GARD_Synonym__c":"abca4 cone-rod dystrophy; cone-rod dystrophy caused by mutation in abca4; cone-rod dystrophy type 3; cord3","Name":"Cone-rod dystrophy 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1858806"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010653","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111013","Source__c":"MONDO:0011395","Xref__c":"DOID:0111013"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349030","Source__c":"C1858806","Xref__c":"MEDGEN:349030"},{"URL__c":"https://www.omim.org/entry/604116","Source__c":"C1858806; MONDO:0011395","Xref__c":"OMIM:604116"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858806","Source__c":"C1858806","Xref__c":"C1858806"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565827","Source__c":"MONDO:0011395","Xref__c":"C565827"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011395","Source__c":"GARD:0010653","Xref__c":"MONDO:0011395"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCA4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abca4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604116","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604116","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000548","HPO_Synonym__c":"Cone rod dystrophy; Cone-rod retinal dystrophy","HPO_Name__c":"Cone/cone-rod dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604116","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604116","Feature__r":{"HPO_Description__c":"A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007984","HPO_Synonym__c":"Electronegative ERG; Electroretinogram: reduced b-wave amplitude; Reduced amplitude of dark-adapted bright flash electroretinogram b-wave; Reduced electroretinogram rod b-wave; Reduced ERG amplitude of b-wave","HPO_Name__c":"ERG: Reduced dark-adapted b-wave amplitude","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604116","Feature__r":{"HPO_Description__c":"Narrowing of the retinal blood vessels, both arterioles and venules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007843","HPO_Synonym__c":"Narrowing of blood vessels in back of eye","HPO_Name__c":"Attenuation of retinal blood vessels","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604116","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007994","HPO_Synonym__c":"Kalnienk vision; Loss of peripheral vision","HPO_Name__c":"Peripheral visual field loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011504","HPO_Name__c":"Bull's eye maculopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An area of depressed vision located at the point of fixation and that interferes with central vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000603","HPO_Synonym__c":"Central blind spot; Central scotomata","HPO_Name__c":"Central scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604116","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["abca4 cone-rod dystrophy"," cone-rod dystrophy caused by mutation in abca4"," cone-rod dystrophy type 3"," cord3"]}