{"Name":"Epidermodysplasia verruciformis","DiseaseID__c":"GARD:0006357","id":6357,"encodedName":"epidermodysplasia-verruciformis","IsDeleted":false,"Disease_Name_Full__c":"Epidermodysplasia verruciformis","Xref_IDs__c":"19138001; C0014522; C126877; D004819; DOID:13777; MEDGEN:41831; MONDO:0009176; ORPHA:302","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009176","Disease_Description__c":"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.","GARD_Name__c":"Epidermodysplasia verruciformis","GARD_Synonym__c":"lewandowsky-lutz disease; lewandowsky-lutz dysplasia; lewandowsky-lutz syndrome; lutz-lewandowsky epidermodysplasia verruciformis","Curated_Disease_Description_Source__c":"MONDO:0009176","Curated_Disease_Description__c":"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:302","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009176","ORPHANET_ID__c":"ORPHA:302","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermodisplasia verruciforme hereditaria","Spanish_Description_Source__c":"ORPHA:302","Spanish_Description__c":"La epidermodisplasia verruciforme (EV) es una genodermatosis hereditaria poco frecuente caracterizada por una infección crónica por el virus del papiloma humano (VPH), que conlleva la aparición de lesiones cutáneas polimorfas y un riesgo elevado de cáncer de piel.","Spanish_Disease_Name__c":"epidermodisplasia verruciforme hereditaria","Spanish_GARD_Synonym__c":"epidermodisplasia verruciforme de lutz-lewandowsky; síndrome de lewandowsky-lutz","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":"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.","Curated_Disease_Description_Source__c":"MONDO:0009176","GARD_Synonym__c":"lewandowsky-lutz disease; lewandowsky-lutz dysplasia; lewandowsky-lutz syndrome; lutz-lewandowsky epidermodysplasia verruciformis","Name":"Epidermodysplasia verruciformis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"HPV Alliance","Website__c":"https://hpvalliance.org/"}],"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":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:302"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0014522"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006357","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0014522","Source__c":"C0014522","Xref__c":"C0014522"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13777","Source__c":"MONDO:0009176","Xref__c":"DOID:13777"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004819","Source__c":"C0014522; MONDO:0009176","Xref__c":"D004819"},{"URL__c":"https://www.orpha.net/en/disease/detail/302","Source__c":"C0014522; MONDO:0009176; ORPHA:302","Xref__c":"ORPHA:302"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126877","Source__c":"C0014522; MONDO:0009176","Xref__c":"C126877"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=19138001","Source__c":"C0014522; MONDO:0009176","Xref__c":"19138001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=41831","Source__c":"C0014522","Xref__c":"MEDGEN:41831"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009176","Source__c":"GARD:0006357","Xref__c":"MONDO:0009176"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IL7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TMC6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CIB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TMC8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200039","HPO_Synonym__c":"Pimple; Pustula; Pustular lesion; Pustules; Skin pustule; Skin pustules","HPO_Name__c":"Pustule","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002715","HPO_Synonym__c":"Abnormality of the immune system; Immunological abnormality","HPO_Name__c":"Abnormality of the immune system","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001051","HPO_Synonym__c":"Seborrhea; Seborrheic eczema","HPO_Name__c":"Seborrheic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of six or more cafe-au-lait spots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007565","HPO_Name__c":"Multiple cafe-au-lait spots","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200043","HPO_Synonym__c":"Warts","HPO_Name__c":"Verrucae","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100585","HPO_Synonym__c":"Teleangiectasia of the skin","HPO_Name__c":"Telangiectasia of the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Dermatology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Account":["Dermatology","Primary Immune Deficiencies"]},"synonyms":["lewandowsky-lutz disease"," lewandowsky-lutz dysplasia"," lewandowsky-lutz syndrome"," lutz-lewandowsky epidermodysplasia verruciformis"]}