{"Name":"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse","DiseaseID__c":"GARD:0017669","id":17669,"encodedName":"palmoplantar-keratoderma-nonepidermolytic-focal-or-diffuse","IsDeleted":false,"Disease_Name_Full__c":"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse","Xref_IDs__c":"C3810394; DOID:0111710; MEDGEN:816724; MONDO:0014327; OMIM:615735; ORPHA:402003","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:402003","Disease_Description__c":"A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.","GARD_Name__c":"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse","GARD_Synonym__c":"autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering; palmoplantar keratoderma, focal or diffuse; ppknefd","Curated_Disease_Description_Source__c":"ORPHA:402003","Curated_Disease_Description__c":"A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:402003","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014327","ORPHANET_ID__c":"ORPHA:402003","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar focal no epidermolítica autosómica dominante con ampollas plantares","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"queratodermia palmoplantar focal no epidermolítica autosómica dominante con ampollas plantares","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, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.","Curated_Disease_Description_Source__c":"ORPHA:402003","GARD_Synonym__c":"autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering; palmoplantar keratoderma, focal or diffuse; ppknefd","Name":"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:402003"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1280","Source__c":"Gene Review","Xref__c":"NBK1280"},{"URL__c":"https://www.orpha.net/en/disease/detail/402003","Source__c":"C3810394; MONDO:0014327","Xref__c":"ORPHA:402003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816724","Source__c":"C3810394","Xref__c":"MEDGEN:816724"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111710","Source__c":"MONDO:0014327","Xref__c":"DOID:0111710"},{"URL__c":"https://www.omim.org/entry/615735","Source__c":"C3810394; MONDO:0014327; ORPHA:402003","Xref__c":"OMIM:615735"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810394","Source__c":"C3810394","Xref__c":"C3810394"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014327","Source__c":"GARD:0017669","Xref__c":"MONDO:0014327"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT6C","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt6c","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615735","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615735","Feature__r":{"HPO_Description__c":"Hyperkeratosis affecting the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007556","HPO_Synonym__c":"Plantar hyperkeratoses","HPO_Name__c":"Plantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615735","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615735","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A thickened white patch on the oral mucosa that cannot be rubbed off.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002745","HPO_Synonym__c":"leukokeratosis; Oral idiopathic keratosis; Oral idiopathic leukoplakia; Oral idiopathic white patch; Oral leucoplakia; Oral leukokeratosis; Oral leukoplasia; Oral white patch; Oral white plaque","HPO_Name__c":"Oral leukoplakia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"," palmoplantar keratoderma, focal or diffuse"," ppknefd"]}