{"Name":"Punctate palmoplantar keratoderma type 2","DiseaseID__c":"GARD:0004439","id":4439,"encodedName":"punctate-palmoplantar-keratoderma-type-2","IsDeleted":false,"Disease_Name_Full__c":"Punctate palmoplantar keratoderma type 2","Xref_IDs__c":"765096001; C1867982; DOID:0080213; MEDGEN:356886; MONDO:0008292; OMIM:175860; ORPHA:79502","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008292","Disease_Description__c":"Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.","GARD_Name__c":"Punctate palmoplantar keratoderma type 2","GARD_Synonym__c":"palmoplantar keratoderma, punctate type ii; ppkp2; pppp; punctate palmoplantar hyperkeratosis type 2","Curated_Disease_Description_Source__c":"MONDO:0008292","Curated_Disease_Description__c":"Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:79502","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008292","ORPHANET_ID__c":"ORPHA:79502","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar punctata tipo 2","Spanish_Description_Source__c":"ORPHA:79502","Spanish_Description__c":"Es un tipo de queratodermia palmoplantar punctata aislada hereditaria, caracterizada por múltiples proyecciones hiperqueratósicas asintomáticas, firmes, de 1 a 2 mm de longitud (\"queratosis espinosa\") en las palmas, plantas y dígitos (normalmente limitados a sus superficies palmares y/o laterales). Histopatológicamente, se observa paraqueratosis columnar compacta sobre epidermis hipo- o agranular.","Spanish_Disease_Name__c":"queratodermia palmoplantar punctata tipo 2","Spanish_GARD_Synonym__c":"hiperqueratosis palmoplantar punctata tipo 2; poroqueratosis punctata palmar y plantar; poroqueratosis punctata palmaris y plantaris; ppkp2; pppp","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":"Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.","Curated_Disease_Description_Source__c":"MONDO:0008292","GARD_Synonym__c":"palmoplantar keratoderma, punctate type ii; ppkp2; pppp; punctate palmoplantar hyperkeratosis type 2","Name":"Punctate palmoplantar keratoderma type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:79502"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356886","Source__c":"C1867982","Xref__c":"MEDGEN:356886"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765096001","Source__c":"C1867982; MONDO:0008292","Xref__c":"765096001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080213","Source__c":"MONDO:0008292","Xref__c":"DOID:0080213"},{"URL__c":"https://www.orpha.net/en/disease/detail/79502","Source__c":"C1867982; MONDO:0008292; ORPHA:79502","Xref__c":"ORPHA:79502"},{"URL__c":"https://www.omim.org/entry/175860","Source__c":"C1867982; MONDO:0008292; ORPHA:79502","Xref__c":"OMIM:175860"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867982","Source__c":"C1867982","Xref__c":"C1867982"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008292","Source__c":"GARD:0004439","Xref__c":"MONDO:0008292"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:175860","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:175860","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007613","HPO_Name__c":"Spinous keratoses of palms and soles","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["palmoplantar keratoderma, punctate type ii"," ppkp2"," pppp"," punctate palmoplantar hyperkeratosis type 2"]}