{"Name":"Disseminated superficial actinic porokeratosis","DiseaseID__c":"GARD:0010983","id":10983,"encodedName":"disseminated-superficial-actinic-porokeratosis","IsDeleted":false,"Disease_Name_Full__c":"Disseminated superficial actinic porokeratosis","Xref_IDs__c":"41495000; C0265970; L56.5; MEDGEN:120561; MONDO:0019212; ORPHA:79152","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0019212","Disease_Description__c":"A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.","GARD_Name__c":"Disseminated superficial actinic porokeratosis","GARD_Synonym__c":"dsap - disseminated superficial actinic porokeratosis","Curated_Disease_Description_Source__c":"GARD:0010983","Curated_Disease_Description__c":"Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry, scaly patches. Symptoms include a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the lower arms and legs). DSAP usually starts during the third or fourth decade of life and rarely affects children. Lesions generally are more prominent in the summer and less prominent in the winter. While DSAP is usually not cancerous, squamous cell carcinoma or Bowen's disease may occasionally develop within patches. DSAP may be inherited in an autosomal dominant matter or may occur in people with no family history of DSAP. Some cases are caused by a change (variant) in the MVK or SART3 genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:79152","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019212","ORPHANET_ID__c":"ORPHA:79152","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poroqueratosis actínica superficial diseminada","Spanish_Description_Source__c":"ORPHA:79152","Spanish_Description__c":"Es una enfermedad poco frecuente de la piel, y la forma más frecuente de poroqueratosis, caracterizada por la presencia de varias placas anulares de pequeño tamaño con un borde queratósico característico distribuidas más frecuentemente en las áreas fotoexpuestas de la piel, especialmente de las extremidades.","Spanish_Disease_Name__c":"poroqueratosis actínica superficial diseminada","Spanish_GARD_Synonym__c":null,"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":"Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry, scaly patches. Symptoms include a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the lower arms and legs). DSAP usually starts during the third or fourth decade of life and rarely affects children. Lesions generally are more prominent in the summer and less prominent in the winter. While DSAP is usually not cancerous, squamous cell carcinoma or Bowen's disease may occasionally develop within patches. DSAP may be inherited in an autosomal dominant matter or may occur in people with no family history of DSAP. Some cases are caused by a change (variant) in the MVK or SART3 genes.","Curated_Disease_Description_Source__c":"GARD:0010983","GARD_Synonym__c":"dsap - disseminated superficial actinic porokeratosis","Name":"Disseminated superficial actinic porokeratosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:79152"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:79152"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:79152"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:79152"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010983","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265970","Source__c":"C0265970","Xref__c":"C0265970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120561","Source__c":"C0265970","Xref__c":"MEDGEN:120561"},{"URL__c":"https://www.orpha.net/en/disease/detail/79152","Source__c":"C0265970; MONDO:0019212; ORPHA:79152","Xref__c":"ORPHA:79152"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=41495000","Source__c":"C0265970; MONDO:0019212","Xref__c":"41495000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019212","Source__c":"GARD:0010983","Xref__c":"MONDO:0019212"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L56.5","Source__c":"MONDO:0019212","Xref__c":"L56.5"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MVK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mvk","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SLC17A9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FDPS","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MVD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200044","HPO_Name__c":"Porokeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79152","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["dsap - disseminated superficial actinic porokeratosis"]}