{"Name":"Retinal macular dystrophy type 2","DiseaseID__c":"GARD:0017467","id":17467,"encodedName":"retinal-macular-dystrophy-type-2","IsDeleted":false,"Disease_Name_Full__c":"Retinal macular dystrophy type 2","Xref_IDs__c":"770594005; C4749334; C562746; DOID:0070517; MEDGEN:1666864; MONDO:0011957; OMIM:608051; ORPHA:319640","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:0011957","Disease_Description__c":"Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.","GARD_Name__c":"Retinal macular dystrophy type 2","GARD_Synonym__c":"bull's eye macular dystrophy; macular dystrophy, retinal, type 2; mcdr2; mcdr2 - retinal macular dystrophy type 2","Curated_Disease_Description_Source__c":"MONDO:0011957","Curated_Disease_Description__c":"Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterised by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:319640","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011957","ORPHANET_ID__c":"ORPHA:319640","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia macular retiniana tipo 2","Spanish_Description_Source__c":"ORPHA:319640","Spanish_Description__c":"La distrofia macular retiniana tipo 2 es un trastorno genético de distrofia macular poco frecuente que se caracteriza por una maculopatía en \"ojo de buey\" lentamente progresiva asociada, en la mayoría de los casos, a leve disminución de la agudeza visual y escotomas centrales. En general, sólo está afectada la retina central, aunque se han descrito algunos casos de anomalías más extendidas de conos y bastones. Otras características más excepcionales incluyen, silla turca vacía, afectación del olfato, infecciones renales, hematuria y abortos espontáneos recurrentes.","Spanish_Disease_Name__c":"distrofia macular retiniana tipo 2","Spanish_GARD_Synonym__c":"mcdr2","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":"Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterised by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages.","Curated_Disease_Description_Source__c":"MONDO:0011957","GARD_Synonym__c":"bull's eye macular dystrophy; macular dystrophy, retinal, type 2; mcdr2; mcdr2 - retinal macular dystrophy type 2","Name":"Retinal macular dystrophy type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.org/"}],"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":"Adolescent","Provided_By__c":"ORPHA:319640"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:319640"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/608051","Source__c":"C4749334; MONDO:0011957; ORPHA:319640","Xref__c":"OMIM:608051"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562746","Source__c":"MONDO:0011957","Xref__c":"C562746"},{"URL__c":"https://www.orpha.net/en/disease/detail/319640","Source__c":"C4749334; MONDO:0011957; ORPHA:319640","Xref__c":"ORPHA:319640"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1666864","Source__c":"C4749334","Xref__c":"MEDGEN:1666864"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749334","Source__c":"C4749334","Xref__c":"C4749334"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070517","Source__c":"MONDO:0011957","Xref__c":"DOID:0070517"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011957","Source__c":"GARD:0017467","Xref__c":"MONDO:0011957"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770594005","Source__c":"C4749334","Xref__c":"770594005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PROM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608051","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:608051","Feature__r":{"HPO_Description__c":"Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007754","HPO_Name__c":"Macular dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608051","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:608051","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030629","HPO_Name__c":"Perifoveal ring of hyperautofluorescence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608051","Feature__r":{"HPO_Description__c":"Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007793","HPO_Synonym__c":"Macular retinal pigment epithelial mottling","HPO_Name__c":"Granular macular appearance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608051","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:608051","Feature__r":{"HPO_Description__c":"A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007641","HPO_Synonym__c":"Color blindness","HPO_Name__c":"Dyschromatopsia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["bull's eye macular dystrophy"," macular dystrophy, retinal, type 2"," mcdr2"," mcdr2 - retinal macular dystrophy type 2"]}