{"Name":"Hereditary neutrophilia","DiseaseID__c":"GARD:0017287","id":17287,"encodedName":"hereditary-neutrophilia","IsDeleted":false,"Disease_Name_Full__c":"Hereditary neutrophilia","Xref_IDs__c":"129639005; C0543669; C563010; DOID:0090120; MEDGEN:154252; MONDO:0008092; OMIM:162830; ORPHA:279943","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008092","Disease_Description__c":"A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.","GARD_Name__c":"Hereditary neutrophilia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:279943","Curated_Disease_Description__c":"A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:279943","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008092","ORPHANET_ID__c":"ORPHA:279943","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neutrofilia hereditaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neutrofilia hereditaria","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, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.","Curated_Disease_Description_Source__c":"ORPHA:279943","Name":"Hereditary neutrophilia","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:279943"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/279943","Source__c":"C0543669; MONDO:0008092; ORPHA:279943","Xref__c":"ORPHA:279943"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563010","Source__c":"MONDO:0008092","Xref__c":"C563010"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=129639005","Source__c":"C0543669; MONDO:0008092","Xref__c":"129639005"},{"URL__c":"https://www.omim.org/entry/162830","Source__c":"C0543669; MONDO:0008092; ORPHA:279943","Xref__c":"OMIM:162830"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0543669","Source__c":"C0543669","Xref__c":"C0543669"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090120","Source__c":"MONDO:0008092","Xref__c":"DOID:0090120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=154252","Source__c":"C0543669","Xref__c":"MEDGEN:154252"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008092","Source__c":"GARD:0017287","Xref__c":"MONDO:0008092"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CSF3R","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:162830","HPO_Frequency__c":"Very frequent (80-99%)","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:162830","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012138","HPO_Name__c":"Granulocytic hyperplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162830","Feature__r":{"HPO_Description__c":"Increased alkaline phosphatase measured within leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008318","HPO_Synonym__c":"Elevated leukocyte ALP","HPO_Name__c":"Elevated leukocyte alkaline phosphatase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162830","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011897","HPO_Synonym__c":"Increased blood neutrophil counts; Neutrophilia","HPO_Name__c":"Increased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162830","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"]},"synonyms":[""]}