{"Name":"Wyburn-Mason syndrome","DiseaseID__c":"GARD:0007900","id":7900,"encodedName":"wyburn-mason-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Wyburn-Mason syndrome","Xref_IDs__c":"6729006; C0265321; C206708; C536752; MEDGEN:120534; MONDO:0018892","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018892","Disease_Description__c":"Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.","GARD_Name__c":"Wyburn-Mason syndrome","GARD_Synonym__c":"bonnet-dechaume-blanc syndrome; cams2; cerebral-retinal arteriovenous aneurysm; cerebrofacial arteriovenous metameric syndrome type 2; wyburn-mason's syndrome","Curated_Disease_Description_Source__c":"GARD:0007900","Curated_Disease_Description__c":"Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown. Individuals with this condition may have additional AVMs in other parts of the body, particularly the face. The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs. Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:53719","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018892","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:53719","Spanish_Description__c":"El síndrome de Wyburn-Mason, o de Bonnet-Dechaume Blanc, se caracteriza por la asociación de malformaciones arteriovenosas del maxilar, la retina, el nervio óptico, el tálamo, el hipotálamo y la corteza cerebral.","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":"Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown. Individuals with this condition may have additional AVMs in other parts of the body, particularly the face. The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs. Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis).","Curated_Disease_Description_Source__c":"GARD:0007900","GARD_Synonym__c":"bonnet-dechaume-blanc syndrome; cams2; cerebral-retinal arteriovenous aneurysm; cerebrofacial arteriovenous metameric syndrome type 2; wyburn-mason's syndrome","Name":"Wyburn-Mason syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Aneurysm and AVM Foundation","Website__c":"https://taafonline.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120534","Source__c":"C0265321","Xref__c":"MEDGEN:120534"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=6729006","Source__c":"C0265321; MONDO:0018892","Xref__c":"6729006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536752","Source__c":"MONDO:0018892","Xref__c":"C536752"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265321","Source__c":"C0265321","Xref__c":"C0265321"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018892","Source__c":"GARD:0007900","Xref__c":"MONDO:0018892"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C206708","Source__c":"C0265321","Xref__c":"C206708"}],"tags":{"Disease Category":["Cancer"],"Specialist":["Vascular Neurology","Vascular Medicine"]},"synonyms":["bonnet-dechaume-blanc syndrome"," cams2"," cerebral-retinal arteriovenous aneurysm"," cerebrofacial arteriovenous metameric syndrome type 2"," wyburn-mason's syndrome"]}