{"Name":"Diffuse palmoplantar keratoderma with painful fissures","DiseaseID__c":"GARD:0017595","id":17595,"encodedName":"diffuse-palmoplantar-keratoderma-with-painful-fissures","IsDeleted":false,"Disease_Name_Full__c":"Diffuse palmoplantar keratoderma with painful fissures","Xref_IDs__c":"778062008; C4755309; MEDGEN:1660049; MONDO:0018250; ORPHA:369999","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":2,"Description_Source__c":"ORPHA:369999","Disease_Description__c":"Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.","GARD_Name__c":"Diffuse palmoplantar keratoderma with painful fissures","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:369999","Curated_Disease_Description__c":"A rare, genetic, isolated palmoplantar keratoderma characterised by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:369999","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018250","ORPHANET_ID__c":"ORPHA:369999","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar difusa con fisuras dolorosas","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"queratodermia palmoplantar difusa con fisuras dolorosas","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":"A rare, genetic, isolated palmoplantar keratoderma characterised by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.","Curated_Disease_Description_Source__c":"ORPHA:369999","Name":"Diffuse palmoplantar keratoderma with painful fissures","estimateUsa":""}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:369999"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:369999"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/369999","Source__c":"C4755309; MONDO:0018250; ORPHA:369999","Xref__c":"ORPHA:369999"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1660049","Source__c":"C4755309","Xref__c":"MEDGEN:1660049"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755309","Source__c":"C4755309","Xref__c":"C4755309"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018250","Source__c":"GARD:0017595","Xref__c":"MONDO:0018250"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778062008","Source__c":"C4755309","Xref__c":"778062008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}