{"Name":"Porokeratosis 3, disseminated superficial actinic type","DiseaseID__c":"GARD:0009505","id":9505,"encodedName":"porokeratosis-3-disseminated-superficial-actinic-type","IsDeleted":false,"Disease_Name_Full__c":"Porokeratosis 3, disseminated superficial actinic type","Xref_IDs__c":"C1867981; C536339; MEDGEN:401352; MONDO:0008293; OMIM:175900","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:175900","Disease_Description__c":"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({12:Schamroth et al., 1997}). However, as noted by {13:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\\n\\nMutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis.\\n\\nThe preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.'\\n\\nDisseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {15:Wu et al., 2004} and {18:Zhang et al., 2012}).\\n\\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.","GARD_Name__c":"Porokeratosis 3, disseminated superficial actinic type","GARD_Synonym__c":"porok3; porokeratosis 3, mibelli type; porokeratosis 3, multiple types; porokeratosis, disseminated superficial actinic, 1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Porokeratosis 3, multiple types is a rare skin disorder. It is characterized by one or more annular (ring-shaped) plaques with a raised horny border that spreads outward from a central point. There are different types of porokeratosis that differ in physical shapes, distribution, and progression of disease. Gene variants in the MVK gene have been found to cause multiple types of porokeratosis, including disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear prorkeratosis. The most common subtype of porokeratosis is DSAP, which is characterized by multiple small, circular (annular), non-sweating (anhidrotic), thick and scaly (keratotic) lesions that are primarily located on sun-exposed areas of the skin, such as the face, neck, arms, and legs. The lesions typically begin to develop in adolescence, with the majority of people experiencing symptoms by their 30s and 40s.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:175900","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008293","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"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":"Porokeratosis 3, multiple types is a rare skin disorder. It is characterized by one or more annular (ring-shaped) plaques with a raised horny border that spreads outward from a central point. There are different types of porokeratosis that differ in physical shapes, distribution, and progression of disease. Gene variants in the MVK gene have been found to cause multiple types of porokeratosis, including disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear prorkeratosis. The most common subtype of porokeratosis is DSAP, which is characterized by multiple small, circular (annular), non-sweating (anhidrotic), thick and scaly (keratotic) lesions that are primarily located on sun-exposed areas of the skin, such as the face, neck, arms, and legs. The lesions typically begin to develop in adolescence, with the majority of people experiencing symptoms by their 30s and 40s.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"porok3; porokeratosis 3, mibelli type; porokeratosis 3, multiple types; porokeratosis, disseminated superficial actinic, 1","Name":"Porokeratosis 3, disseminated superficial actinic type","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009505","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536339","Source__c":"MONDO:0008293","Xref__c":"C536339"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867981","Source__c":"C1867981","Xref__c":"C1867981"},{"URL__c":"https://www.omim.org/entry/175900","Source__c":"C1867981; MONDO:0008293","Xref__c":"OMIM:175900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401352","Source__c":"C1867981","Xref__c":"MEDGEN:401352"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008293","Source__c":"GARD:0009505","Xref__c":"MONDO:0008293"}],"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}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:175900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:175900","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":"OMIM:175900","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["porok3"," porokeratosis 3, mibelli type"," porokeratosis 3, multiple types"," porokeratosis, disseminated superficial actinic, 1"]}