{"Name":"Familial primary localized cutaneous amyloidosis","DiseaseID__c":"GARD:0017533","id":17533,"encodedName":"familial-primary-localized-cutaneous-amyloidosis","IsDeleted":false,"Disease_Name_Full__c":"Familial primary localized cutaneous amyloidosis","Xref_IDs__c":"C1304242; C562643; MEDGEN:725603; MONDO:0007101; OMIMPS:105250; ORPHA:353220","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:353220","Disease_Description__c":"A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).","GARD_Name__c":"Familial primary localized cutaneous amyloidosis","GARD_Synonym__c":"familial localized cutaneous amyloidosis; fplca; hereditary primary cutaneous amyloidosis","Curated_Disease_Description_Source__c":"ORPHA:353220","Curated_Disease_Description__c":"A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:353220","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007101","ORPHANET_ID__c":"ORPHA:353220","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amiloidosis cutánea primaria familiar localizada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"amiloidosis cutánea primaria familiar localizada","Spanish_GARD_Synonym__c":"fplca","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 primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).","Curated_Disease_Description_Source__c":"ORPHA:353220","GARD_Synonym__c":"familial localized cutaneous amyloidosis; fplca; hereditary primary cutaneous amyloidosis","Name":"Familial primary localized cutaneous amyloidosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Amyloidosis Foundation","Website__c":"https://www.amyloidosis.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":"All ages","Provided_By__c":"ORPHA:353220"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=725603","Source__c":"C1304242","Xref__c":"MEDGEN:725603"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1304242","Source__c":"C1304242","Xref__c":"C1304242"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562643","Source__c":"MONDO:0007101","Xref__c":"C562643"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS105250","Source__c":"MONDO:0007101","Xref__c":"OMIMPS:105250"},{"URL__c":"https://www.orpha.net/en/disease/detail/353220","Source__c":"C1304242; MONDO:0007101; ORPHA:353220","Xref__c":"ORPHA:353220"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007101","Source__c":"GARD:0017533","Xref__c":"MONDO:0007101"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=402463003","Source__c":"C1304242","Xref__c":"402463003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IL31RA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/il31ra","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"OSMR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/osmr","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":["familial localized cutaneous amyloidosis"," fplca"," hereditary primary cutaneous amyloidosis"]}