{"Name":"White sponge nevus","DiseaseID__c":"GARD:0008501","id":8501,"encodedName":"white-sponge-nevus","IsDeleted":false,"Disease_Name_Full__c":"White sponge nevus","Xref_IDs__c":"389203001; C1721005; C84760; D053529; DOID:0050448; MEDGEN:328433; MONDO:0015748; OMIMPS:193900; ORPHA:171723","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015748","Disease_Description__c":"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.","GARD_Name__c":"White sponge nevus","GARD_Synonym__c":"familial white folded mucosal dysplasia; hereditary leukokeratosis of mucosa; hereditary mucosal leukokeratosis; hereditary oral keratosis; hereditary white sponge nevus; white sponge nevus of cannon; white sponge nevus of mucosa","Curated_Disease_Description_Source__c":"MONDO:0015748","Curated_Disease_Description__c":"White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells. White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:171723","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015748","ORPHANET_ID__c":"ORPHA:171723","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nevo blanco esponjoso","Spanish_Description_Source__c":"ORPHA:171723","Spanish_Description__c":"Es una enfermedad genética autosómica dominante, poco frecuente, en la que la mucosa oral es blanquecina o grisácea, engrosada, plegada y esponjosa. Se manifiesta a una edad temprana y afecta a pacientes de ambos sexos por igual. Otras localizaciones anatómicas comunes incluyen la lengua, el suelo de la boca y la mucosa alveolar.","Spanish_Disease_Name__c":"nevo blanco esponjoso","Spanish_GARD_Synonym__c":"leucoqueratosis mucosa hereditaria; nevo blanco esponjoso de cannon","Category_Linearization__c":"ORPHA:89826","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":"White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells. White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals.","Curated_Disease_Description_Source__c":"MONDO:0015748","GARD_Synonym__c":"familial white folded mucosal dysplasia; hereditary leukokeratosis of mucosa; hereditary mucosal leukokeratosis; hereditary oral keratosis; hereditary white sponge nevus; white sponge nevus of cannon; white sponge nevus of mucosa","Name":"White sponge nevus","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"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":"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1721005"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4011926"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008501","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1721005","Source__c":"C1721005","Xref__c":"C1721005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=328433","Source__c":"C1721005","Xref__c":"MEDGEN:328433"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84760","Source__c":"C1721005; MONDO:0015748","Xref__c":"C84760"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053529","Source__c":"C1721005; MONDO:0015748","Xref__c":"D053529"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=389203001","Source__c":"C1721005; MONDO:0015748","Xref__c":"389203001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050448","Source__c":"MONDO:0015748","Xref__c":"DOID:0050448"},{"URL__c":"https://www.orpha.net/en/disease/detail/171723","Source__c":"C1721005; MONDO:0015748; ORPHA:171723","Xref__c":"ORPHA:171723"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS193900","Source__c":"MONDO:0015748","Xref__c":"OMIMPS:193900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015748","Source__c":"GARD:0008501","Xref__c":"MONDO:0015748"},{"URL__c":"https://medlineplus.gov/genetics/condition/white-sponge-nevus","Source__c":"GARD:0008501","Xref__c":"https://medlineplus.gov/genetics/condition/white-sponge-nevus"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT13","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt13","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["familial white folded mucosal dysplasia"," hereditary leukokeratosis of mucosa"," hereditary mucosal leukokeratosis"," hereditary oral keratosis"," hereditary white sponge nevus"," white sponge nevus of cannon"," white sponge nevus of mucosa"]}