{"Name":"Sinus histiocytosis with massive lymphadenopathy","DiseaseID__c":"GARD:0007588","id":7588,"encodedName":"sinus-histiocytosis-with-massive-lymphadenopathy","IsDeleted":false,"Disease_Name_Full__c":"Sinus histiocytosis with massive lymphadenopathy","Xref_IDs__c":"34287003; C0019625; C36075; C85069; D015618; MEDGEN:9266; MONDO:0006412; ORPHA:158014","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Description_Source__c":"MONDO:0006412","Disease_Description__c":"A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously.","GARD_Name__c":"Sinus histiocytosis with massive lymphadenopathy","GARD_Synonym__c":"destombes-rosac/-dorfman disease; destombes-rosaï-dorfman disease; histiocytosis, sinus; rdd; rosac/-dorfman-destombes disease; rosai-dorfman disease; rosaï-dorfman disease; rosaï-dorfman-destombes disease; shml; sinus histiocytosis","Curated_Disease_Description_Source__c":"GARD:0007588","Curated_Disease_Description__c":"Rosai-Dorfman disease is a benign disease which is characterized by over-production and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body, most often those of the neck (cervical). Other lymph node groups may also be involved and, in some cases, abnormal accumulation of histiocytes may occur in other areas of the body (extranodal). The cause of this condition remains unknown, although altered immune responses and infectious agents may play a role.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:158014","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0006412","ORPHANET_ID__c":"ORPHA:158014","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de rosaï-dorfman","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de rosaï-dorfman","Spanish_GARD_Synonym__c":"enfermedad de destombes-rosaï-dorfman; enfermedad de rosaï-dorfman-destombes; histiocitosis sinusal con linfadenopatía masiva; shml","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":"Rosai-Dorfman disease is a benign disease which is characterized by over-production and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body, most often those of the neck (cervical). Other lymph node groups may also be involved and, in some cases, abnormal accumulation of histiocytes may occur in other areas of the body (extranodal). The cause of this condition remains unknown, although altered immune responses and infectious agents may play a role.","Curated_Disease_Description_Source__c":"GARD:0007588","GARD_Synonym__c":"destombes-rosac/-dorfman disease; destombes-rosaï-dorfman disease; histiocytosis, sinus; rdd; rosac/-dorfman-destombes disease; rosai-dorfman disease; rosaï-dorfman disease; rosaï-dorfman-destombes disease; shml; sinus histiocytosis","Name":"Sinus histiocytosis with massive lymphadenopathy","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":"Histio Connect UK","Website__c":"https://histioukconnect.org/"},{"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/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:158014"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:158014"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015618","Source__c":"MONDO:0006412","Xref__c":"D015618"},{"URL__c":"https://www.orpha.net/en/disease/detail/158014","Source__c":"C0019625; MONDO:0006412","Xref__c":"ORPHA:158014"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0019625","Source__c":"C0019625","Xref__c":"C0019625"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=34287003","Source__c":"MONDO:0006412","Xref__c":"34287003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9266","Source__c":"C0019625","Xref__c":"MEDGEN:9266"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C36075","Source__c":"MONDO:0006412","Xref__c":"C36075"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=23041001","Source__c":"C0019625","Xref__c":"23041001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006412","Source__c":"GARD:0007588","Xref__c":"MONDO:0006412"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85069","Source__c":"C0019625","Xref__c":"C85069"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Selective deficiency of one or more, but not all, classes of immunoglobulins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002961","HPO_Name__c":"Dysgammaglobulinemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe or complete weakness of both lower extremities with sparing of the upper extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010550","HPO_Synonym__c":"Leg paralysis","HPO_Name__c":"Paraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158014","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Specialist":["Rheumatology","Dermatology","Pediatrics"],"Account":["Dermatology"],"Disease Category":["Dermatology"]},"synonyms":["destombes-rosac/-dorfman disease"," destombes-rosaï-dorfman disease"," histiocytosis, sinus"," rdd"," rosac/-dorfman-destombes disease"," rosai-dorfman disease"," rosaï-dorfman disease"," rosaï-dorfman-destombes disease"," shml"," sinus histiocytosis"],"spanishId":11987,"spanishName":"enfermedad-de-rosai-dorfman"}