{"Name":"Patterned macular dystrophy 3","DiseaseID__c":"GARD:0017826","id":17826,"encodedName":"patterned-macular-dystrophy-3","IsDeleted":false,"Disease_Name_Full__c":"Patterned macular dystrophy 3","Xref_IDs__c":"C4310713; DOID:0060865; MEDGEN:934680; MONDO:0014920; OMIM:617111; ORPHA:466718","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014920","Disease_Description__c":"Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.","GARD_Name__c":"Patterned macular dystrophy 3","GARD_Synonym__c":"macular dystrophy, patterned, 3; macular dystrophy, patterned, type 3; mapkapk3 patterned macular dystrophy; martinique crinkled retinal pigment epitheliopathy; mcrpe; mcrpe - martinique crinkled retinal pigment epitheliopathy; mdpt3; mdpt3 - patterned macular dystrophy 3; patterned macular dystrophy caused by mutation in mapkapk3; patterned macular dystrophy type 3","Curated_Disease_Description_Source__c":"ORPHA:466718","Curated_Disease_Description__c":"A rare, genetic retinal disease characterized by characteristic \"dried-out soil\" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:466718","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014920","ORPHANET_ID__c":"ORPHA:466718","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epiteliopatía pigmentaria retiniana arrugada de martinica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"epiteliopatía pigmentaria retiniana arrugada de martinica","Spanish_GARD_Synonym__c":"mcrpe","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":"A rare, genetic retinal disease characterized by characteristic \"dried-out soil\" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.","Curated_Disease_Description_Source__c":"ORPHA:466718","GARD_Synonym__c":"macular dystrophy, patterned, 3; macular dystrophy, patterned, type 3; mapkapk3 patterned macular dystrophy; martinique crinkled retinal pigment epitheliopathy; mcrpe; mcrpe - martinique crinkled retinal pigment epitheliopathy; mdpt3; mdpt3 - patterned macular dystrophy 3; patterned macular dystrophy caused by mutation in mapkapk3; patterned macular dystrophy type 3","Name":"Patterned macular dystrophy 3","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:466718"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/617111","Source__c":"C4310713; MONDO:0014920; ORPHA:466718","Xref__c":"OMIM:617111"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4310713","Source__c":"C4310713","Xref__c":"C4310713"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=934680","Source__c":"C4310713","Xref__c":"MEDGEN:934680"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060865","Source__c":"MONDO:0014920","Xref__c":"DOID:0060865"},{"URL__c":"https://www.orpha.net/en/disease/detail/466718","Source__c":"C4310713; MONDO:0014920; ORPHA:466718","Xref__c":"ORPHA:466718"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014920","Source__c":"GARD:0017826","Xref__c":"MONDO:0014920"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187639002","Source__c":"C4310713","Xref__c":"1187639002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MAPKAPK3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617111","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617111","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:617111","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011506","HPO_Synonym__c":"Choroidal neovascular membrane","HPO_Name__c":"Choroidal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617111","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007401","HPO_Name__c":"Macular atrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["macular dystrophy, patterned, 3"," macular dystrophy, patterned, type 3"," mapkapk3 patterned macular dystrophy"," martinique crinkled retinal pigment epitheliopathy"," mcrpe"," mcrpe - martinique crinkled retinal pigment epitheliopathy"," mdpt3"," mdpt3 - patterned macular dystrophy 3"," patterned macular dystrophy caused by mutation in mapkapk3"," patterned macular dystrophy type 3"]}