Phenotypes associated with the disease hereditary neutrophilia (OMIM:162830):
- 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:19620628)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: PCS. Frequency: 1/12. (PMID:19620628)
- Elevated leukocyte alkaline phosphatase (HP:0008318): Increased alkaline phosphatase measured within leukocytes. Evidence: IEA. (OMIM:162830)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 12/12. (PMID:19620628)
- Granulocytic hyperplasia (HP:0012138). Evidence: PCS. (PMID:19620628)
- Increased total neutrophil count (HP:0011897): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 12/12. (PMID:19620628)