{"Name":"Hashimoto-Pritzker syndrome","DiseaseID__c":"GARD:0002604","id":2604,"encodedName":"hashimoto-pritzker-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hashimoto-Pritzker syndrome","Xref_IDs__c":"404160007; C3661439; C535843; MEDGEN:775638; MONDO:0020518","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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020518","Disease_Description__c":"Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).","GARD_Name__c":"Hashimoto-Pritzker syndrome","GARD_Synonym__c":"congenital langerhans cell histiocytosis; congenital self-healing histiocytosis; langerhans cell histiocytosis - hashimoto-pritzker type","Curated_Disease_Description_Source__c":"GARD:0002604","Curated_Disease_Description__c":"Hashimoto-Pritzker disease, also known as congenital self-healing reticulo-histiocytosis, is a very rare disease characterized by single or multiple red-purple or brown pimples (papules) and lumps (nodules) present at birth (congenital) or soon thereafter. Classic signs and symptoms include congenital or early development of painless papules, nodules or plaques with spontaneous regression in 2-3 months, and increase of a type of immune cells known as Langerhans cell histiocytes. Langerhans cells help regulate the immune system, and are normally found throughout the body. An excess of immature Langerhans cells usually form tumors called granulomas. Most patients have multiple lesions, but in about 25% of cases there is only one lesion. Development of lesions in adulthood, recurrence of the disease, as well as lung and eye involvement, are very rare.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020518","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":"Hashimoto-Pritzker disease, also known as congenital self-healing reticulo-histiocytosis, is a very rare disease characterized by single or multiple red-purple or brown pimples (papules) and lumps (nodules) present at birth (congenital) or soon thereafter. Classic signs and symptoms include congenital or early development of painless papules, nodules or plaques with spontaneous regression in 2-3 months, and increase of a type of immune cells known as Langerhans cell histiocytes. Langerhans cells help regulate the immune system, and are normally found throughout the body. An excess of immature Langerhans cells usually form tumors called granulomas. Most patients have multiple lesions, but in about 25% of cases there is only one lesion. Development of lesions in adulthood, recurrence of the disease, as well as lung and eye involvement, are very rare.","Curated_Disease_Description_Source__c":"GARD:0002604","GARD_Synonym__c":"congenital langerhans cell histiocytosis; congenital self-healing histiocytosis; langerhans cell histiocytosis - hashimoto-pritzker type","Name":"Hashimoto-Pritzker syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Argentina contra la Histiocitosis (AAH)","Website__c":"https://aah.org.ar/"},{"Account_Name__c":"Histiocytosis Association","Website__c":"https://www.histio.org/"},{"Account_Name__c":"Histiocytosis Association of Canada","Website__c":"https://histiocytosis.ca/"},{"Account_Name__c":"Histio UK","Website__c":"https://www.histiouk.org/"},{"Account_Name__c":"Histio Connect UK","Website__c":"https://histioukconnect.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535843","Source__c":"MONDO:0020518","Xref__c":"C535843"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3661439","Source__c":"C3661439","Xref__c":"C3661439"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=775638","Source__c":"C3661439","Xref__c":"MEDGEN:775638"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404160007","Source__c":"C3661439; MONDO:0020518","Xref__c":"404160007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020518","Source__c":"GARD:0002604","Xref__c":"MONDO:0020518"}],"tags":{"Disease Category":["Cancer"]},"synonyms":["congenital langerhans cell histiocytosis"," congenital self-healing histiocytosis"," langerhans cell histiocytosis - hashimoto-pritzker type"],"spanishId":13292,"spanishName":"sindrome-de-hashimoto-pritzker"}