{"Name":"Autoimmune lymphoproliferative syndrome type 4","DiseaseID__c":"GARD:0017262","id":17262,"encodedName":"autoimmune-lymphoproliferative-syndrome-type-4","IsDeleted":false,"Disease_Name_Full__c":"Autoimmune lymphoproliferative syndrome type 4","Xref_IDs__c":"723508002; C2674723; DOID:0110117; MEDGEN:382434; MONDO:0013767; OMIM:614470; ORPHA:268114","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013767","Disease_Description__c":"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.","GARD_Name__c":"Autoimmune lymphoproliferative syndrome type 4","GARD_Synonym__c":"alps type 4; alps type iv; alps4; autoimmune lymphoproliferative syndrome caused by mutation in nras; autoimmune lymphoproliferative syndrome type iv; autoimmune lymphoproliferative syndrome, type iv; nras autoimmune lymphoproliferative syndrome; rald; rald - ras-associated autoimmune leukoproliferative disease; ras-associated autoimmune leukoproliferative disease; ras-associated autoimmune leukoproliferative disorder; ras-associated autoimmune lymphoproliferative syndrome type iv, somatic","Curated_Disease_Description_Source__c":"MONDO:0013767","Curated_Disease_Description__c":"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:268114","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013767","ORPHANET_ID__c":"ORPHA:268114","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad leucoproliferativa autoinmune asociada a ras","Spanish_Description_Source__c":"ORPHA:268114","Spanish_Description__c":"La enfermedad leucoproliferativa autoinmune asociada a RAS (RALD, por sus siglas en inglés) es un trastorno genético poco frecuente caracterizado por monocitosis, citopenias autoinmunes, linfoproliferación, hepatoesplenomegalia e hipergammaglobulinemia.","Spanish_Disease_Name__c":"enfermedad leucoproliferativa autoinmune asociada a ras","Spanish_GARD_Synonym__c":"rald","Category_Linearization__c":"ORPHA:98004","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":"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.","Curated_Disease_Description_Source__c":"MONDO:0013767","GARD_Synonym__c":"alps type 4; alps type iv; alps4; autoimmune lymphoproliferative syndrome caused by mutation in nras; autoimmune lymphoproliferative syndrome type iv; autoimmune lymphoproliferative syndrome, type iv; nras autoimmune lymphoproliferative syndrome; rald; rald - ras-associated autoimmune leukoproliferative disease; ras-associated autoimmune leukoproliferative disease; ras-associated autoimmune leukoproliferative disorder; ras-associated autoimmune lymphoproliferative syndrome type iv, somatic","Name":"Autoimmune lymphoproliferative syndrome type 4","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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"},{"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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:268114"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:268114"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110117","Source__c":"MONDO:0013767","Xref__c":"DOID:0110117"},{"URL__c":"https://www.orpha.net/en/disease/detail/268114","Source__c":"C2674723; MONDO:0013767; ORPHA:268114","Xref__c":"ORPHA:268114"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2674723","Source__c":"C2674723","Xref__c":"C2674723"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723508002","Source__c":"C2674723; MONDO:0013767","Xref__c":"723508002"},{"URL__c":"https://www.omim.org/entry/614470","Source__c":"C2674723; MONDO:0013767; ORPHA:268114","Xref__c":"OMIM:614470"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=382434","Source__c":"C2674723","Xref__c":"MEDGEN:382434"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013767","Source__c":"GARD:0017262","Xref__c":"MONDO:0013767"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614470","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"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012311","HPO_Synonym__c":"High blood monocyte number; Monocytosis","HPO_Name__c":"Increased total monocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001973","HPO_Synonym__c":"Idiopathic thrombocytopenia; Immune thrombocytopenia","HPO_Name__c":"Autoimmune thrombocytopenia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"An increased level of gamma globulin (immunoglobulin) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010702","HPO_Synonym__c":"Elevated immunoglobulin levels; Hypergammaglobulinaemia; Hypergammaglobulinemia; Increased antibody level in blood; Increased circulating antibody concentration; Increased circulating antibody level; Increased gamma globulin; Increased immunoglobulin level; Increased serum gamma globulin; Raised immunoglobulin levels","HPO_Name__c":"Increased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002665","HPO_Synonym__c":"Cancer of lymphatic system","HPO_Name__c":"Lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"Abnormal decrease of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002731","HPO_Synonym__c":"Defective lymphocyte apoptosis","HPO_Name__c":"Decreased T cell apoptosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"Increase in the number or proportion of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100827","HPO_Synonym__c":"High lymphocyte count; Lymphocytosis","HPO_Name__c":"Increased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Description__c":"A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001909","HPO_Name__c":"Leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614470","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005523","HPO_Name__c":"Lymphoproliferative disorder","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Hematology","Pediatrics"],"Disease Category":["Cancer","Genetics","Hematology"],"Cause":["Genetics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["alps type 4"," alps type iv"," alps4"," autoimmune lymphoproliferative syndrome caused by mutation in nras"," autoimmune lymphoproliferative syndrome type iv"," autoimmune lymphoproliferative syndrome, type iv"," nras autoimmune lymphoproliferative syndrome"," rald"," rald - ras-associated autoimmune leukoproliferative disease"," ras-associated autoimmune leukoproliferative disease"," ras-associated autoimmune leukoproliferative disorder"," ras-associated autoimmune lymphoproliferative syndrome type iv, somatic"]}