{"Name":"Diffuse palmoplantar keratoderma - acrocyanosis syndrome","DiseaseID__c":"GARD:0019089","id":19089,"encodedName":"diffuse-palmoplantar-keratoderma-acrocyanosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Diffuse palmoplantar keratoderma - acrocyanosis syndrome","Xref_IDs__c":"C4303588; MEDGEN:929257; MONDO:0019489; ORPHA:86918","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019489","Disease_Description__c":"Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.","GARD_Name__c":"Diffuse palmoplantar keratoderma - acrocyanosis syndrome","GARD_Synonym__c":"diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome; diffuse palmoplantar keratoderma and acrocyanosis syndrome; diffuse palmoplantar keratoderma-acrocyanosis syndrome","Curated_Disease_Description_Source__c":"ORPHA:86918","Curated_Disease_Description__c":"Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. The mode of inheritance in the familial cases was autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:86918","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019489","ORPHANET_ID__c":"ORPHA:86918","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de queratodermia palmoplantar difuso-acrocianosis","Spanish_Description_Source__c":"ORPHA:86918","Spanish_Description__c":"Es un síndrome caracterizado por la asociación de queratodermia palmoplantar difusa y acrocianosis. Se ha descrito en ocho miembros de una misma familia y en dos casos esporádicos. En los casos familiares, el modo de herencia seguía un patrón autosómico dominante.","Spanish_Disease_Name__c":"síndrome de queratodermia palmoplantar difuso-acrocianosis","Spanish_GARD_Synonym__c":"síndrome de hiperqueratosis palmoplantar difuso-acrocianosis","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":"Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. The mode of inheritance in the familial cases was autosomal dominant.","Curated_Disease_Description_Source__c":"ORPHA:86918","GARD_Synonym__c":"diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome; diffuse palmoplantar keratoderma and acrocyanosis syndrome; diffuse palmoplantar keratoderma-acrocyanosis syndrome","Name":"Diffuse palmoplantar keratoderma - acrocyanosis syndrome","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":"Neonatal","Provided_By__c":"ORPHA:86918"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:86918"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929257","Source__c":"C4303588","Xref__c":"MEDGEN:929257"},{"URL__c":"https://www.orpha.net/en/disease/detail/86918","Source__c":"C4303588; MONDO:0019489; ORPHA:86918","Xref__c":"ORPHA:86918"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303588","Source__c":"C4303588","Xref__c":"C4303588"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721096008","Source__c":"C4303588","Xref__c":"721096008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019489","Source__c":"GARD:0019089","Xref__c":"MONDO:0019489"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:86918","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin of the hands or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001063","HPO_Synonym__c":"Persistent blue color of hands or feet","HPO_Name__c":"Acrocyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86918","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse abnormal thickening of the skin on the palms and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007447","HPO_Synonym__c":"Diffuse palmoplantar keratoderma; Hyperkeratosis, diffuse palmoplantar","HPO_Name__c":"Diffuse palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome"," diffuse palmoplantar keratoderma and acrocyanosis syndrome"," diffuse palmoplantar keratoderma-acrocyanosis syndrome"]}