{"Name":"X-linked cone-rod dystrophy 1","DiseaseID__c":"GARD:0010652","id":10652,"encodedName":"x-linked-cone-rod-dystrophy-1","IsDeleted":false,"Disease_Name_Full__c":"X-linked cone-rod dystrophy 1","Xref_IDs__c":"C1844776; C564438; DOID:0111008; MEDGEN:336777; MONDO:0010566; OMIM:304020","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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:304020","Disease_Description__c":"X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors ({5:Demirci et al., 2002}). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings ({10:Hong et al., 1994}).\\n\\n<Subhead> Genetic Heterogeneity of X-linked Cone-Rod Dystrophy\\n\\nAdditional forms of X-linked cone-rod dystrophy include CORDX2 ({300085}), mapped to chromosome Xq27, and CORDX3 ({300476}), caused by mutation in the CACNA1F gene ({300110}) on chromosome Xp11.23.\\n\\nFor a discussion of autosomal forms of cone-rod dystrophy, see CORD2 ({120970}).","GARD_Name__c":"X-linked cone-rod dystrophy 1","GARD_Synonym__c":"cod1; cone-rod dystrophy, x-linked, 1, x-linked recessive; cone-rod dystrophy, x-linked, type 1; cordx1; x-linked cone dystrophy 1; x-linked cone-rod dystrophy type 1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Cone-rod dystrophy, x-linked, 1 is a rare, progressive visual disorder that primarily affects the cone photoreceptors in the eyes. This disease is more common in males. \nSymptoms of this condition include blurry vision, nearsightedness (myopia), sensitivity to light (photophobia), difficulty distinguishing colors, loss of side vision, weak response to bright light, and changes to the part of the eye responsible for central vision. The severity of the condition can vary, with some people experiencing more damage to the rods (cells in the eye that help us see in low light).\nSymptoms may appear at different ages and can vary in serverity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:304020","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010566","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, x-linked, 1 is a rare, progressive visual disorder that primarily affects the cone photoreceptors in the eyes. This disease is more common in males. \nSymptoms of this condition include blurry vision, nearsightedness (myopia), sensitivity to light (photophobia), difficulty distinguishing colors, loss of side vision, weak response to bright light, and changes to the part of the eye responsible for central vision. The severity of the condition can vary, with some people experiencing more damage to the rods (cells in the eye that help us see in low light).\nSymptoms may appear at different ages and can vary in serverity.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cod1; cone-rod dystrophy, x-linked, 1, x-linked recessive; cone-rod dystrophy, x-linked, type 1; cordx1; x-linked cone dystrophy 1; x-linked cone-rod dystrophy type 1","Name":"X-linked cone-rod dystrophy 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"Retina International","Website__c":"https://retina-international.org/"},{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010652","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/304020","Source__c":"C1844776; MONDO:0010566","Xref__c":"OMIM:304020"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336777","Source__c":"C1844776","Xref__c":"MEDGEN:336777"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564438","Source__c":"MONDO:0010566","Xref__c":"C564438"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844776","Source__c":"C1844776","Xref__c":"C1844776"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111008","Source__c":"MONDO:0010566","Xref__c":"DOID:0111008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010566","Source__c":"GARD:0010652","Xref__c":"MONDO:0010566"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RPGR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rpgr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:304020","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:304020","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:304020","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007722","HPO_Name__c":"Retinal pigment epithelial atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:304020","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:304020","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:304020","Feature__r":{"HPO_Description__c":"Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030632","HPO_Synonym__c":"Hypo-autofluorescent macular lesion","HPO_Name__c":"Hypoautofluorescent macular lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:304020","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:304020","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"}},{"Provided_By__c":"OMIM:304020","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"}},{"Provided_By__c":"OMIM:304020","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"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["cod1"," cone-rod dystrophy, x-linked, 1, x-linked recessive"," cone-rod dystrophy, x-linked, type 1"," cordx1"," x-linked cone dystrophy 1"," x-linked cone-rod dystrophy type 1"]}