{"Name":"Keratosis palmaris et plantaris-clinodactyly syndrome","DiseaseID__c":"GARD:0016766","id":16766,"encodedName":"keratosis-palmaris-et-plantaris-clinodactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Keratosis palmaris et plantaris-clinodactyly syndrome","Xref_IDs__c":"C1835663; C563646; MEDGEN:320656; MONDO:0007857; OMIM:148520; ORPHA:86919","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":1,"Description_Source__c":"MONDO:0007857","Disease_Description__c":"Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.","GARD_Name__c":"Keratosis palmaris et plantaris-clinodactyly syndrome","GARD_Synonym__c":"keratosis palmaris et plantaris with clinodactyly; palmoplantar keratoderma-clinodactyly syndrome","Curated_Disease_Description_Source__c":"ORPHA:86919","Curated_Disease_Description__c":"Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Transmission is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:86919","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007857","ORPHANET_ID__c":"ORPHA:86919","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de queratosis palmaris et plantaris-clinodactilia","Spanish_Description_Source__c":"ORPHA:86919","Spanish_Description__c":"Es un síndrome caracterizado por la asociación de queratosis palmoplantar con clinodactilia del quinto dedo de la mano. Hasta la fecha se han notificado menos de 20 casos en la literatura y la mayoría de los pacientes descritos eran de origen mexicano. La transmisión es autosómica dominante.","Spanish_Disease_Name__c":"síndrome de queratosis palmaris et plantaris-clinodactilia","Spanish_GARD_Synonym__c":"queratodermia palmoplantar-clinodactilia","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":"Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Transmission is autosomal dominant.","Curated_Disease_Description_Source__c":"ORPHA:86919","GARD_Synonym__c":"keratosis palmaris et plantaris with clinodactyly; palmoplantar keratoderma-clinodactyly syndrome","Name":"Keratosis palmaris et plantaris-clinodactyly 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:86919"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320656","Source__c":"C1835663","Xref__c":"MEDGEN:320656"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563646","Source__c":"MONDO:0007857","Xref__c":"C563646"},{"URL__c":"https://www.omim.org/entry/148520","Source__c":"C1835663; MONDO:0007857; ORPHA:86919","Xref__c":"OMIM:148520"},{"URL__c":"https://www.orpha.net/en/disease/detail/86919","Source__c":"C1835663; MONDO:0007857","Xref__c":"ORPHA:86919"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835663","Source__c":"C1835663","Xref__c":"C1835663"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007857","Source__c":"GARD:0016766","Xref__c":"MONDO:0007857"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:86919","HPO_Frequency__c":"Frequent (30-79%)","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:86919","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86919","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":["keratosis palmaris et plantaris with clinodactyly"," palmoplantar keratoderma-clinodactyly syndrome"]}