{"Name":"Punctate acrokeratoderma freckle-like pigmentation","DiseaseID__c":"GARD:0004603","id":4603,"encodedName":"punctate-acrokeratoderma-freckle-like-pigmentation","IsDeleted":false,"Disease_Name_Full__c":"Punctate acrokeratoderma freckle-like pigmentation","Xref_IDs__c":"1237573001; C5681635; MEDGEN:1814481; MONDO:0036918; ORPHA:99710","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:99710","Disease_Description__c":"A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.","GARD_Name__c":"Punctate acrokeratoderma freckle-like pigmentation","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:99710","Curated_Disease_Description__c":"A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:99710","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0036918","ORPHANET_ID__c":"ORPHA:99710","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acroqueratodermia punteada con pigmentación similar a pecas","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"acroqueratodermia punteada con pigmentación similar a pecas","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 epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue.","Curated_Disease_Description_Source__c":"ORPHA:99710","Name":"Punctate acrokeratoderma freckle-like pigmentation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:99710"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681635","Source__c":"C5681635","Xref__c":"C5681635"},{"URL__c":"https://www.orpha.net/en/disease/detail/99710","Source__c":"C5681635; MONDO:0036918; ORPHA:99710","Xref__c":"ORPHA:99710"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814481","Source__c":"C5681635","Xref__c":"MEDGEN:1814481"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1237573001","Source__c":"C5681635","Xref__c":"1237573001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0036918","Source__c":"GARD:0004603","Xref__c":"MONDO:0036918"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}