{"Name":"Retinal cone dystrophy 4","DiseaseID__c":"GARD:0010650","id":10650,"encodedName":"retinal-cone-dystrophy-4","IsDeleted":false,"Disease_Name_Full__c":"Retinal cone dystrophy 4","Xref_IDs__c":"C1864849; C566470; DOID:0081023; MEDGEN:355308; MONDO:0012507; OMIM:610478","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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012507","Disease_Description__c":"Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.","GARD_Name__c":"Retinal cone dystrophy 4","GARD_Synonym__c":"cacna2d4 cone dystrophy; cone dystrophy caused by mutation in cacna2d4; rcd4; retinal cone dystrophy type 4","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Retinal cone dystrophy 4 is a genetic disease that affects the eyes. People with this disease have changes in the CACNA2D4 gene on chromosome 12p13. This change affects the function of the cones in the retina, which can lead to a slowly progressive reduction in vision and photophobia (sensitivity to light). Retinal cone dystrophy 4 is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:610478","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012507","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":"Retinal cone dystrophy 4 is a genetic disease that affects the eyes. People with this disease have changes in the CACNA2D4 gene on chromosome 12p13. This change affects the function of the cones in the retina, which can lead to a slowly progressive reduction in vision and photophobia (sensitivity to light). Retinal cone dystrophy 4 is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cacna2d4 cone dystrophy; cone dystrophy caused by mutation in cacna2d4; rcd4; retinal cone dystrophy type 4","Name":"Retinal cone dystrophy 4","estimateUsa":""}],"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:C1864849"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010650","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355308","Source__c":"C1864849","Xref__c":"MEDGEN:355308"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566470","Source__c":"MONDO:0012507","Xref__c":"C566470"},{"URL__c":"https://www.omim.org/entry/610478","Source__c":"C1864849; MONDO:0012507","Xref__c":"OMIM:610478"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864849","Source__c":"C1864849","Xref__c":"C1864849"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081023","Source__c":"MONDO:0012507","Xref__c":"DOID:0081023"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012507","Source__c":"GARD:0010650","Xref__c":"MONDO:0012507"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CACNA2D4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610478","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610478","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610478","Feature__r":{"HPO_Description__c":"An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001133","HPO_Synonym__c":"Concentric narrowing of visual field; Constricted visual field; Constricted visual fields; Limited peripheral vision; Reduced peripheral vision; Visual field constriction","HPO_Name__c":"Constriction of peripheral visual field","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610478","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:610478","Feature__r":{"HPO_Description__c":"Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007814","HPO_Synonym__c":"Focal hypopigmentation of the retinal pigment epithelium; Retinal pigment epithelium irregularity; RPE irregularity; RPE mottling; Salt and pepper retinal pigmentation; Salt and pepper retinopathy","HPO_Name__c":"Retinal pigment epithelial mottling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610478","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:610478","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["cacna2d4 cone dystrophy"," cone dystrophy caused by mutation in cacna2d4"," rcd4"," retinal cone dystrophy type 4"]}