{"Name":"Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome","DiseaseID__c":"GARD:0022300","id":22300,"encodedName":"warts-immunodeficiency-lymphedema-anogenital-dysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome","Xref_IDs__c":"C5568569; MEDGEN:1799992; MONDO:0035473; ORPHA:568056","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":2,"Description_Source__c":"MONDO:0035473","Disease_Description__c":"A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.","GARD_Name__c":"Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome","GARD_Synonym__c":"disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome; disseminated warts, impaired cell-mediated immunity, primary lymphedema, anogenital dysplasia syndrome; warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome; wild (warts, immunodeficiency, lymphedema, anogenital dysplasia) syndrome; wild syndrome","Curated_Disease_Description_Source__c":"MONDO:0035473","Curated_Disease_Description__c":"A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:568056","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035473","ORPHANET_ID__c":"ORPHA:568056","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de verrugas-inmunodeficiencia-linfedema-displasia anogenital","Spanish_Description_Source__c":"ORPHA:568056","Spanish_Description__c":"Es un linfedema primario poco frecuente caracterizado por linfedema multisegmentado extenso, asociado a infecciones persistentes y generalizadas de varios papilovirus genitales de alto y bajo riesgo, resultando en displasia anogenital multifocal. Las pruebas de laboratorio muestran anomalías en subconjuntos de linfocitos, especialmente de las células-T CD4+. También se ha descrito nevos epidérmicos y malformaciones capilares.","Spanish_Disease_Name__c":"síndrome de verrugas-inmunodeficiencia-linfedema-displasia anogenital","Spanish_GARD_Synonym__c":"síndrome de verrugas diseminadas-alteración de la inmunidad celular-linfedema primario-displasia anogenital; síndrome wild","Category_Linearization__c":"ORPHA:93890","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 primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0035473","GARD_Synonym__c":"disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome; disseminated warts, impaired cell-mediated immunity, primary lymphedema, anogenital dysplasia syndrome; warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome; wild (warts, immunodeficiency, lymphedema, anogenital dysplasia) syndrome; wild syndrome","Name":"Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:568056"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:568056"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568569","Source__c":"C5568569","Xref__c":"C5568569"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799992","Source__c":"C5568569","Xref__c":"MEDGEN:1799992"},{"URL__c":"https://www.orpha.net/en/disease/detail/568056","Source__c":"C5568569; MONDO:0035473; ORPHA:568056","Xref__c":"ORPHA:568056"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186725001","Source__c":"C5568569","Xref__c":"1186725001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035473","Source__c":"GARD:0022300","Xref__c":"MONDO:0035473"}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Dermatology","Vascular Medicine","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Account":["Dermatology","Primary Immune Deficiencies"]},"synonyms":["disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome"," disseminated warts, impaired cell-mediated immunity, primary lymphedema, anogenital dysplasia syndrome"," warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome"," wild (warts, immunodeficiency, lymphedema, anogenital dysplasia) syndrome"," wild syndrome"]}