{"Name":"Palmoplantar pustulosis","DiseaseID__c":"GARD:0012820","id":12820,"encodedName":"palmoplantar-pustulosis","IsDeleted":false,"Disease_Name_Full__c":"Palmoplantar pustulosis","Xref_IDs__c":"27520001; 81271001; C0030246; C34888; DOID:4398; HP:0100847; L40.3; MEDGEN:45290; MONDO:0015597; ORPHA:163927","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"GARD:0012820","Disease_Description__c":"Pustulosis palmaris et plantaris (PPP) is a rare and chronic inflammatory condition that primarily affects the palms of the hands and soles of the feet. Signs and symptoms of the condition generally develop during adulthood and include crops of pustules on one or both hands and/or feet that erupt repeatedly over time. Affected individuals may also experience itching (pruritus), pain, or a burning sensation. The classification of PPP is controversial. Some have proposed that PPP is a variant of psoriasis, while others believe it to be a separate disease. Though the area of involvement is often limited, PPP can have a significant effect on quality of life and can interfere with walking or other daily activities.","GARD_Name__c":"Palmoplantar pustulosis","GARD_Synonym__c":"acropustulosis; localised pustular psoriasis; localized pustular psoriasis; lpp; palmoplantar pustular psoriasis; palmoplantar pustules; ppp; ppp - palmoplantar pustulosis; pustular acrodermatitis; pustular psoriasis of palms and soles; pustular psoriasis of the palms and/or soles; pustulosis of palm and sole; pustulosis of palms and soles; pustulosis palmaris et plantaris; recalcitrant pustular eruption of palms and soles","Curated_Disease_Description_Source__c":"GARD:0012820","Curated_Disease_Description__c":"A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:163927","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015597","ORPHANET_ID__c":"ORPHA:163927","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pustulosis palmar y plantar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"pustulosis palmar y plantar","Spanish_GARD_Synonym__c":"ppp; psoriasis pustulosa localizada; pustulosis palmoplantar","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 skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.","Curated_Disease_Description_Source__c":"GARD:0012820","GARD_Synonym__c":"acropustulosis; localised pustular psoriasis; localized pustular psoriasis; lpp; palmoplantar pustular psoriasis; palmoplantar pustules; ppp; ppp - palmoplantar pustulosis; pustular acrodermatitis; pustular psoriasis of palms and soles; pustular psoriasis of the palms and/or soles; pustulosis of palm and sole; pustulosis of palms and soles; pustulosis palmaris et plantaris; recalcitrant pustular eruption of palms and soles","Name":"Palmoplantar pustulosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"National Psoriasis Foundation","Website__c":"https://www.psoriasis.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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012820","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=81271001","Source__c":"MONDO:0015597","Xref__c":"81271001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4398","Source__c":"MONDO:0015597","Xref__c":"DOID:4398"},{"URL__c":"https://www.orpha.net/en/disease/detail/163927","Source__c":"C0030246; MONDO:0015597; ORPHA:163927","Xref__c":"ORPHA:163927"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34888","Source__c":"C0030246; MONDO:0015597","Xref__c":"C34888"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45290","Source__c":"C0030246","Xref__c":"MEDGEN:45290"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0030246","Source__c":"C0030246","Xref__c":"C0030246"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=27520001","Source__c":"C0030246; MONDO:0015597","Xref__c":"27520001"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L40.3","Source__c":"MONDO:0015597","Xref__c":"L40.3"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015597","Source__c":"GARD:0012820","Xref__c":"MONDO:0015597"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100847","Source__c":"C0030246","Xref__c":"HP:0100847"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AP1S3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IL36RN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/il36rn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["acropustulosis"," localised pustular psoriasis"," localized pustular psoriasis"," lpp"," palmoplantar pustular psoriasis"," palmoplantar pustules"," ppp"," ppp - palmoplantar pustulosis"," pustular acrodermatitis"," pustular psoriasis of palms and soles"," pustular psoriasis of the palms and/or soles"," pustulosis of palm and sole"," pustulosis of palms and soles"," pustulosis palmaris et plantaris"," recalcitrant pustular eruption of palms and soles"]}