{"Name":"Immunoglobulin G4-related sclerosing disease","DiseaseID__c":"GARD:0012521","id":12521,"encodedName":"immunoglobulin-g4-related-sclerosing-disease","IsDeleted":false,"Disease_Name_Full__c":"Immunoglobulin G4-related sclerosing disease","Xref_IDs__c":"C3203653; C95992; DOID:0080356; MEDGEN:473761; MONDO:0017287; ORPHA:284264","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017287","Disease_Description__c":"A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.","GARD_Name__c":"Immunoglobulin G4-related sclerosing disease","GARD_Synonym__c":"igg4-rd; igg4-related disease; igg4-related sclerosing disease; igg4-related systemic disease","Curated_Disease_Description_Source__c":"GARD:0012521","Curated_Disease_Description__c":"IgG4-related disease is an immune-mediated condition that can affect multiple organ systems. Common features include IgG4-related autoimmune pancreatitis, swelling of or within an organ system (an inflammatory pseudotumor), salivary gland disease (which can lead to enlargement of the salivary glands), swollen lymph nodes (lymphadenopathy), skin manifestations, and symptoms consistent with allergies or asthma. The cause of IgG4-related disease is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:284264","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017287","ORPHANET_ID__c":"ORPHA:284264; ORPHA:596448","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad asociada a igg4","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad asociada a igg4","Spanish_GARD_Synonym__c":"enfermedad esclerosante ligada a inmunoglobulinas g4","Category_Linearization__c":"ORPHA:98023","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":"IgG4-related disease is an immune-mediated condition that can affect multiple organ systems. Common features include IgG4-related autoimmune pancreatitis, swelling of or within an organ system (an inflammatory pseudotumor), salivary gland disease (which can lead to enlargement of the salivary glands), swollen lymph nodes (lymphadenopathy), skin manifestations, and symptoms consistent with allergies or asthma. The cause of IgG4-related disease is unknown.","Curated_Disease_Description_Source__c":"GARD:0012521","GARD_Synonym__c":"igg4-rd; igg4-related disease; igg4-related sclerosing disease; igg4-related systemic disease","Name":"Immunoglobulin G4-related sclerosing disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"IgG4ward!","Website__c":"https://igg4ward.org/"},{"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/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:284264"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C95992","Source__c":"C3203653; MONDO:0017287","Xref__c":"C95992"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3203653","Source__c":"C3203653","Xref__c":"C3203653"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080356","Source__c":"MONDO:0017287","Xref__c":"DOID:0080356"},{"URL__c":"https://www.orpha.net/en/disease/detail/284264","Source__c":"C3203653; MONDO:0017287; ORPHA:284264","Xref__c":"ORPHA:284264"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=473761","Source__c":"C3203653","Xref__c":"MEDGEN:473761"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017287","Source__c":"GARD:0012521","Xref__c":"MONDO:0017287"}],"tags":{"Specialist":["Rheumatology"]},"synonyms":["igg4-rd"," igg4-related disease"," igg4-related sclerosing disease"," igg4-related systemic disease"],"spanishId":13084,"spanishName":"enfermedad-relacionada-con-igg4"}