{"Name":"Kimura disease","DiseaseID__c":"GARD:0006835","id":6835,"encodedName":"kimura-disease","IsDeleted":false,"Disease_Name_Full__c":"Kimura disease","Xref_IDs__c":"C0033838; C26867; D000082242; D000796; DOID:7365; MEDGEN:46183; MONDO:0018830; ORPHA:482","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018830","Disease_Description__c":"Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.","GARD_Name__c":"Kimura disease","GARD_Synonym__c":"eosinophilic lymphogranuloma; kimura's disease","Curated_Disease_Description_Source__c":"GARD:0006835","Curated_Disease_Description__c":"Kimura disease is a rare, noncancerous, chronic condition that causes the tissue under the skin of the head or neck to become swollen. Masses generally appear in a person's mid-20s and the disease mainly affects Asian men. Kimura disease is diagnosed by a surgical biopsy and the cause of the disease is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:482","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018830","ORPHANET_ID__c":"ORPHA:482","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de kimura","Spanish_Description_Source__c":"ORPHA:482","Spanish_Description__c":"Es un trastorno inflamatorio crónico y benigno de etiología desconocida que se desarrolla principalmente en países asiáticos (muy excepcionalmente en países occidentales) y afecta predominantemente a varones jóvenes. Por lo general, se presenta con masas subcutáneas no dolorosas, únicas o múltiples, en la región de la cabeza y del cuello (en particular, en el área preauricular y submandibular) y/o linfadenopatía indolora generalizada, a menudo con afectación de las glándulas salivales. Los hallazgos característicos de laboratorio incluyen eosinofilia en sangre y niveles de inmunoglobulina E (IgE) sérica muy elevados. Se asocia con frecuencia a trastornos autoinflamatorios (p. ej., colitis ulcerosa o asma bronquial) y a enfermedad renal coexistente.","Spanish_Disease_Name__c":"enfermedad de kimura","Spanish_GARD_Synonym__c":null,"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":"Kimura disease is a rare, noncancerous, chronic condition that causes the tissue under the skin of the head or neck to become swollen. Masses generally appear in a person's mid-20s and the disease mainly affects Asian men. Kimura disease is diagnosed by a surgical biopsy and the cause of the disease is unknown.","Curated_Disease_Description_Source__c":"GARD:0006835","GARD_Synonym__c":"eosinophilic lymphogranuloma; kimura's disease","Name":"Kimura disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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/"}],"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:482"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=46183","Source__c":"C0033838","Xref__c":"MEDGEN:46183"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000082242","Source__c":"C0033838; MONDO:0018830","Xref__c":"D000082242"},{"URL__c":"https://www.orpha.net/en/disease/detail/482","Source__c":"C0033838; MONDO:0018830; ORPHA:482","Xref__c":"ORPHA:482"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26867","Source__c":"C0033838; MONDO:0018830","Xref__c":"C26867"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A7365","Source__c":"MONDO:0018830","Xref__c":"DOID:7365"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0033838","Source__c":"C0033838","Xref__c":"C0033838"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000796","Source__c":"MONDO:0018830","Xref__c":"D000796"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018830","Source__c":"GARD:0006835","Xref__c":"MONDO:0018830"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=399894006","Source__c":"C0033838","Xref__c":"399894006"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:482","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the salivary glands, the exocrine glands that produce saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010286","HPO_Synonym__c":"Abnormality of the salivary glands","HPO_Name__c":"Abnormal salivary gland morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased count of eosinophils in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001880","HPO_Synonym__c":"Eosinophilia; High blood eosinophil count; Increased eosinophil count","HPO_Name__c":"Increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002729","HPO_Name__c":"Follicular hyperplasia","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology"]},"synonyms":["eosinophilic lymphogranuloma"," kimura's disease"],"spanishId":13673,"spanishName":"enfermedad-de-kimura"}