Phenotypes associated with the disease neutropenia, severe congenital, 1, autosomal dominant (OMIM:202700):
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: IEA. (OMIM:202700)
- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: IEA. (OMIM:202700)
- Increased total monocyte count (HP:0012311): Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. (OMIM:202700)
- Growth abnormality (HP:0001507). Evidence: IEA. (OMIM:202700)
- Congenital agranulocytosis (HP:0005541): Persistent absence of detectable circulating granulocytes in the blood with no detected secondary cause. Usually a value of less than 50 granulocytes per microliter is considered to be an absence. Evidence: TAS. (OMIM:202700)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. (OMIM:202700)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. Onset: Infantile onset (HP:0003593). (PMID:19036076)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: TAS. (PMID:1861198)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: IEA. (OMIM:202700)
- Acute monocytic leukemia (HP:0004845): The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. Evidence: IEA. (OMIM:202700)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:14962902)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:14962902)