hereditary neutrophilia
Findings
No curated finding names hereditary neutrophilia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008092), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased total neutrophil countHPOHP:0011897
- 12 of 12 reported patients
- SplenomegalyHPOHP:0001744
- 12 of 12 reported patients
- MyelodysplasiaHPOHP:0002863
- 1 of 12 reported patients
- Granulocytic hyperplasiaHPOHP:0012138
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CSF3RHGNC:2439
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of