{"Name":"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency","DiseaseID__c":"GARD:0017698","id":17698,"encodedName":"autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency","Xref_IDs__c":"C176614; C4310764; DOID:0112129; MEDGEN:934731; MONDO:0014865; OMIM:617014; ORPHA:420702","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:420702","Disease_Description__c":"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the <i>CSF3R</i> gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.","GARD_Name__c":"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency","GARD_Synonym__c":"neutropenia, severe congenital, 7, autosomal recessive","Curated_Disease_Description_Source__c":"ORPHA:420702","Curated_Disease_Description__c":"A rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:420702","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014865","ORPHANET_ID__c":"ORPHA:420702","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neutropenia congénita grave autosómica recesiva por deficiencia en csf3r","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neutropenia congénita grave autosómica recesiva por deficiencia en csf3r","Spanish_GARD_Synonym__c":null,"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, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.","Curated_Disease_Description_Source__c":"ORPHA:420702","GARD_Synonym__c":"neutropenia, severe congenital, 7, autosomal recessive","Name":"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:420702"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:420702"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112129","Source__c":"MONDO:0014865","Xref__c":"DOID:0112129"},{"URL__c":"https://www.orpha.net/en/disease/detail/420702","Source__c":"C4310764; MONDO:0014865","Xref__c":"ORPHA:420702"},{"URL__c":"https://www.omim.org/entry/617014","Source__c":"C4310764; MONDO:0014865; ORPHA:420702","Xref__c":"OMIM:617014"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=934731","Source__c":"C4310764","Xref__c":"MEDGEN:934731"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4310764","Source__c":"C4310764","Xref__c":"C4310764"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014865","Source__c":"GARD:0017698","Xref__c":"MONDO:0014865"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176614","Source__c":"C4310764","Xref__c":"C176614"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CSF3R","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617014","HPO_Frequency__c":"Very frequent (80-99%)","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:617014","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["neutropenia, severe congenital, 7, autosomal recessive"]}