Information on HNPH
Basic details
Name: Hereditary neutrophilia | Acronym: HNPH
Alt. names:
Gene: CSF3R | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2009
Last updated on: 2023-02-28 16:41:18 by
Description
In a 3-generation family segregating autosomal dominant neutrophilia, Plo et al. (2009) sequenced the CSF3R gene and identified a heterozygous activating mutation (T617N; 138971.0001) in all 12 affected individuals that was not found in the 4 unaffected family members. [OMIM]
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Neutrophilia |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Splenomegaly |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Myelodysplasia |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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