{"Name":"Palmoplantar keratoderma, Nagashima type","DiseaseID__c":"GARD:0016967","id":16967,"encodedName":"palmoplantar-keratoderma-nagashima-type","IsDeleted":false,"Disease_Name_Full__c":"Palmoplantar keratoderma, Nagashima type","Xref_IDs__c":"722205008; C3810072; DOID:0070555; MEDGEN:816402; MONDO:0014272; OMIM:615598; ORPHA:140966","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014272","Disease_Description__c":"A rare autosomal recessive, isolated diffuse palmoplantar keratoderma charactized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.","GARD_Name__c":"Palmoplantar keratoderma, Nagashima type","GARD_Synonym__c":"palmoplantar hyperkeratosis, nagashima type; palmoplantar keratoderma nagashima type; ppk, nagashima type","Curated_Disease_Description_Source__c":"MONDO:0014272","Curated_Disease_Description__c":"A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:140966","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014272","ORPHANET_ID__c":"ORPHA:140966","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar tipo nagashima","Spanish_Description_Source__c":"ORPHA:140966","Spanish_Description__c":"Es una queratodermia palmoplantar difusa aislada autosómica recesiva poco frecuente, que se caracterizada por queratodermia palmoplantar transgresiva y no progresiva que se parece a una forma leve del mal de Meleda.","Spanish_Disease_Name__c":"queratodermia palmoplantar tipo nagashima","Spanish_GARD_Synonym__c":"hiperqueratosis palmoplantar tipo nagashima; ppk tipo nagashima","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 autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.","Curated_Disease_Description_Source__c":"MONDO:0014272","GARD_Synonym__c":"palmoplantar hyperkeratosis, nagashima type; palmoplantar keratoderma nagashima type; ppk, nagashima type","Name":"Palmoplantar keratoderma, Nagashima type","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":"Infancy","Provided_By__c":"ORPHA:140966"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:140966"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810072","Source__c":"C3810072","Xref__c":"C3810072"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070555","Source__c":"MONDO:0014272","Xref__c":"DOID:0070555"},{"URL__c":"https://www.orpha.net/en/disease/detail/140966","Source__c":"C3810072; MONDO:0014272; ORPHA:140966","Xref__c":"ORPHA:140966"},{"URL__c":"https://www.omim.org/entry/615598","Source__c":"C3810072; MONDO:0014272; ORPHA:140966","Xref__c":"OMIM:615598"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816402","Source__c":"C3810072","Xref__c":"MEDGEN:816402"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722205008","Source__c":"C3810072; MONDO:0014272","Xref__c":"722205008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014272","Source__c":"GARD:0016967","Xref__c":"MONDO:0014272"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SERPINB7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:140966","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140966","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["palmoplantar hyperkeratosis, nagashima type"," palmoplantar keratoderma nagashima type"," ppk, nagashima type"]}