{"Name":"Palmoplantar keratoderma i, striate, focal, or diffuse","DiseaseID__c":"GARD:0009172","id":9172,"encodedName":"palmoplantar-keratoderma-i-striate-focal-or-diffuse","IsDeleted":false,"Disease_Name_Full__c":"Palmoplantar keratoderma i, striate, focal, or diffuse","Xref_IDs__c":"C2931122; C536162; DOID:0081108; MEDGEN:419717; MONDO:0007859; OMIM:148700","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:148700","Disease_Description__c":"Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by {6:Hunt et al., 2001}). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported ({7:Keren et al., 2005}; {8:Milingou et al., 2006}).\\n\\n<Subhead> Genetic Heterogeneity of Keratosis Palmoplantaris Striata\\n\\nType II PPKS (PPKS2; {612908}) is caused by mutation in the DSP gene ({125647}) on chromosome 6.\\n\\nType III PPKS (PPKS3; {607654}) is caused by mutation in the keratin-1 gene (KRT1; {139350}) on chromosome 12q.\\n\\nFor a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200}).\\n\\n{9:Nitoiu et al. (2014)} reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.","GARD_Name__c":"Palmoplantar keratoderma i, striate, focal, or diffuse","GARD_Synonym__c":"keratoderma, palmoplantar, striate form i; keratosis palmoplantaris striata i; keratosis palmoplantaris striata i, ad; palmoplantar keratoderma i, focal; palmoplantar keratoderma i, striate or diffuse; striate palmoplantar keratoderma i","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Palmoplantar keratoderma I, striate, focal or diffuse is a skin disease that causes thickening of the skin on the palms of the hands and soles of the feet. The striate form of this disease is characterized by thick, scaly lines on the fingers and palms, with the thickening occurring most often in areas that experience a lot of pressure and rubbing. People with focal and diffuse forms have also been described. The condition is caused by changes in the DSG1 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:148700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007859","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Palmoplantar keratoderma I, striate, focal or diffuse is a skin disease that causes thickening of the skin on the palms of the hands and soles of the feet. The striate form of this disease is characterized by thick, scaly lines on the fingers and palms, with the thickening occurring most often in areas that experience a lot of pressure and rubbing. People with focal and diffuse forms have also been described. The condition is caused by changes in the DSG1 gene.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"keratoderma, palmoplantar, striate form i; keratosis palmoplantaris striata i; keratosis palmoplantaris striata i, ad; palmoplantar keratoderma i, focal; palmoplantar keratoderma i, striate or diffuse; striate palmoplantar keratoderma i","Name":"Palmoplantar keratoderma i, striate, focal, or diffuse","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009172","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419717","Source__c":"C2931122","Xref__c":"MEDGEN:419717"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931122","Source__c":"C2931122","Xref__c":"C2931122"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081108","Source__c":"MONDO:0007859","Xref__c":"DOID:0081108"},{"URL__c":"https://www.omim.org/entry/148700","Source__c":"C2931122; MONDO:0007859","Xref__c":"OMIM:148700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536162","Source__c":"MONDO:0007859","Xref__c":"C536162"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007859","Source__c":"GARD:0009172","Xref__c":"MONDO:0007859"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:148700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007501","HPO_Name__c":"Streaks of hyperkeratosis along each finger onto the palm","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025080","HPO_Name__c":"Orthokeratotic hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148700","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":"OMIM:148700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of blistering that affects 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:0007446","HPO_Name__c":"Palmoplantar blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148700","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:148700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Detachment of the nail from the nail bed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001806","HPO_Synonym__c":"Detachment of nail; Oncholysis","HPO_Name__c":"Onycholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Yellowish discoloration of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011367","HPO_Synonym__c":"Yellow nails","HPO_Name__c":"Yellow nails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148700","Feature__r":{"HPO_Description__c":"Hypergranulosis is an increased thickness of the stratum granulosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025114","HPO_Name__c":"Hypergranulosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["keratoderma, palmoplantar, striate form i"," keratosis palmoplantaris striata i"," keratosis palmoplantaris striata i, ad"," palmoplantar keratoderma i, focal"," palmoplantar keratoderma i, striate or diffuse"," striate palmoplantar keratoderma i"]}