{"Name":"Pancytopenia due to IKZF1 mutations","DiseaseID__c":"GARD:0017442","id":17442,"encodedName":"pancytopenia-due-to-ikzf1-mutations","IsDeleted":false,"Disease_Name_Full__c":"Pancytopenia due to IKZF1 mutations","Xref_IDs__c":"C4225173; DOID:0081155; MEDGEN:905078; MONDO:0014810; OMIM:616873; ORPHA:317473","USA_Estimate__c":"1,000","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":"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":8,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0014810","Disease_Description__c":"Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.","GARD_Name__c":"Pancytopenia due to IKZF1 mutations","GARD_Synonym__c":"cid due to ikaros deficiency; combined immunodeficiency due to ikaros deficiency; cvid13; ikzf1 syndrome with combined immunodeficiency; immunodeficiency, common variable, 13; immunodeficiency, common variable, type 13; syndrome with combined immunodeficiency caused by mutation in ikzf1","Curated_Disease_Description_Source__c":"ORPHA:317473","Curated_Disease_Description__c":"A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:317473","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014810","ORPHANET_ID__c":"ORPHA:317473","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fenotipo de inmunodeficiencia común variable por haploinsuficiencia funcional de ikaros","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"fenotipo de inmunodeficiencia común variable por haploinsuficiencia funcional de ikaros","Spanish_GARD_Synonym__c":"fenotipo de idcv por haploinsuficiencia funcional de ikaros; fenotipo de inmunodeficiencia común variable por haploinsuficiencia funcional de ikzf1","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":"A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.","Curated_Disease_Description_Source__c":"ORPHA:317473","GARD_Synonym__c":"cid due to ikaros deficiency; combined immunodeficiency due to ikaros deficiency; cvid13; ikzf1 syndrome with combined immunodeficiency; immunodeficiency, common variable, 13; immunodeficiency, common variable, type 13; syndrome with combined immunodeficiency caused by mutation in ikzf1","Name":"Pancytopenia due to IKZF1 mutations","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"GARD_Disease_Tag__c":[{"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":"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":"Infancy","Provided_By__c":"ORPHA:317473"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:317473"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:317473"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:317473"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:317473"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081155","Source__c":"MONDO:0014810","Xref__c":"DOID:0081155"},{"URL__c":"https://www.omim.org/entry/616873","Source__c":"C4225173; MONDO:0014810; ORPHA:317473","Xref__c":"OMIM:616873"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=905078","Source__c":"C4225173","Xref__c":"MEDGEN:905078"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225173","Source__c":"C4225173","Xref__c":"C4225173"},{"URL__c":"https://www.orpha.net/en/disease/detail/317473","Source__c":"C4225173; MONDO:0014810","Xref__c":"ORPHA:317473"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014810","Source__c":"GARD:0017442","Xref__c":"MONDO:0014810"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IKZF1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of acute leukemia characterized by excess lympoblasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006721","HPO_Synonym__c":"Acute lymphatic leukemia; Acute lymphocytic leukemia; Acute lymphoid leukemia","HPO_Name__c":"Acute lymphoblastic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025116","HPO_Name__c":"Fetal distress","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616873","Feature__r":{"HPO_Description__c":"A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005387","HPO_Name__c":"Combined immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616873","Feature__r":{"HPO_Description__c":"The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010976","HPO_Synonym__c":"B cell deficiency; B cell lymphopenia; B lymphocytopenia; Decreased B cell count; Low B cell count; Reduction in B cell number","HPO_Name__c":"Decreased total B cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616873","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616873","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616873","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["cid due to ikaros deficiency"," combined immunodeficiency due to ikaros deficiency"," cvid13"," ikzf1 syndrome with combined immunodeficiency"," immunodeficiency, common variable, 13"," immunodeficiency, common variable, type 13"," syndrome with combined immunodeficiency caused by mutation in ikzf1"]}