{"Name":"MRCS syndrome","DiseaseID__c":"GARD:0017255","id":17255,"encodedName":"mrcs-syndrome","IsDeleted":false,"Disease_Name_Full__c":"MRCS syndrome","Xref_IDs__c":"C4749856; MEDGEN:1666962; MONDO:0016979; ORPHA:263347","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016979","Disease_Description__c":"MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.","GARD_Name__c":"MRCS syndrome","GARD_Synonym__c":"microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome; microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome; mrcs (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome","Curated_Disease_Description_Source__c":"MONDO:0016979","Curated_Disease_Description__c":"MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:263347","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016979","ORPHANET_ID__c":"ORPHA:263347","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome mrcs","Spanish_Description_Source__c":"ORPHA:263347","Spanish_Description__c":"El síndrome MRCS es un trastorno de distrofia retiniana, genético y poco frecuente, caracterizado por microcórnea bilateral, distrofia de conos y bastones, cataratas y estafiloma posterior, en ausencia de otros síntomas sistémicos. La característica clínica de presentación suele ser la ceguera nocturna asociada a otros hallazgos tales como nistagmus, estrabismo, astigmatismo y glaucoma de ángulo cerrado. El deterioro progresivo de la agudeza visual, debido a cataratas tipo pulverulentas, da lugar a una visión deficiente que varía desde la ausencia de percepción de la luz hasta una agudeza de 20/400.","Spanish_Disease_Name__c":"síndrome mrcs","Spanish_GARD_Synonym__c":"microcórnea-distrofia de conos y bastones-cataratas-estafiloma posterior","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":"MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.","Curated_Disease_Description_Source__c":"MONDO:0016979","GARD_Synonym__c":"microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome; microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome; mrcs (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome","Name":"MRCS 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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:263347"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749856","Source__c":"C4749856","Xref__c":"C4749856"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1666962","Source__c":"C4749856","Xref__c":"MEDGEN:1666962"},{"URL__c":"https://www.orpha.net/en/disease/detail/263347","Source__c":"C4749856; MONDO:0016979; ORPHA:263347","Xref__c":"ORPHA:263347"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016979","Source__c":"GARD:0017255","Xref__c":"MONDO:0016979"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771342004","Source__c":"C4749856","Xref__c":"771342004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BEST1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/best1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Retinal"]},"synonyms":["microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome"," microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome"," mrcs (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome"]}