{"Name":"Focal palmoplantar and gingival keratoderma","DiseaseID__c":"GARD:0003098","id":3098,"encodedName":"focal-palmoplantar-and-gingival-keratoderma","IsDeleted":false,"Disease_Name_Full__c":"Focal palmoplantar and gingival keratoderma","Xref_IDs__c":"764963007; C1835650; C536157; DOID:0070553; MEDGEN:372097; MONDO:0007860; OMIM:148730; ORPHA:2200","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007860","Disease_Description__c":"Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.","GARD_Name__c":"Focal palmoplantar and gingival keratoderma","GARD_Synonym__c":"focal palmoplantar and gingival hyperkeratosis; focal palmoplantar and gingival hyperkeratosis syndrome; focal palmoplantar and oral mucosa hyperkeratosis; keratosis, focal palmoplantar and gingival","Curated_Disease_Description_Source__c":"MONDO:0007860","Curated_Disease_Description__c":"Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2200","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007860","ORPHANET_ID__c":"ORPHA:2200","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar focal y gingival","Spanish_Description_Source__c":"ORPHA:2200","Spanish_Description__c":"Es una forma muy poco frecuente de queratodermia palmoplantar focal caracterizada por lesiones hiperqueratósicas circunscritas y dolorosas en áreas de las plantas de los pies que soportan el peso, hiperqueratosis focal moderada de áreas relacionadas con la presión palmar y una leucoqueratosis asintomática limitada a la encía unida al labio y a la lengua . Otras características ocasionales adicionales pueden incluir hiperhidrosis, queratosis folicular y afectación extensa de la mucosa oral.","Spanish_Disease_Name__c":"queratodermia palmoplantar focal y gingival","Spanish_GARD_Synonym__c":"hiperqueratosis palmoplantar focal y gingival","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":"Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.","Curated_Disease_Description_Source__c":"MONDO:0007860","GARD_Synonym__c":"focal palmoplantar and gingival hyperkeratosis; focal palmoplantar and gingival hyperkeratosis syndrome; focal palmoplantar and oral mucosa hyperkeratosis; keratosis, focal palmoplantar and gingival","Name":"Focal palmoplantar and gingival keratoderma","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:2200"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536157","Source__c":"MONDO:0007860","Xref__c":"C536157"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764963007","Source__c":"C1835650; MONDO:0007860","Xref__c":"764963007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=372097","Source__c":"C1835650","Xref__c":"MEDGEN:372097"},{"URL__c":"https://www.omim.org/entry/148730","Source__c":"C1835650; MONDO:0007860; ORPHA:2200","Xref__c":"OMIM:148730"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835650","Source__c":"C1835650","Xref__c":"C1835650"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070553","Source__c":"MONDO:0007860","Xref__c":"DOID:0070553"},{"URL__c":"https://www.orpha.net/en/disease/detail/2200","Source__c":"C1835650; MONDO:0007860; ORPHA:2200","Xref__c":"ORPHA:2200"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007860","Source__c":"GARD:0003098","Xref__c":"MONDO:0007860"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A thickening of the stratum corneum in the region beneath the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008392","HPO_Synonym__c":"Thickened, discolored skin under nail","HPO_Name__c":"Subungual hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2200","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:2200","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2200","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"}},{"Provided_By__c":"ORPHA:2200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007497","HPO_Synonym__c":"Hyperkeratosis, palmoplantar, focal friction-related","HPO_Name__c":"Focal friction-related palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008399","HPO_Synonym__c":"Thick skin around nails","HPO_Name__c":"Circumungual hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000222","HPO_Synonym__c":"Hyperkeratosis, gingival","HPO_Name__c":"Gingival hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["focal palmoplantar and gingival hyperkeratosis"," focal palmoplantar and gingival hyperkeratosis syndrome"," focal palmoplantar and oral mucosa hyperkeratosis"," keratosis, focal palmoplantar and gingival"]}