Hereditary neutrophilia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 279943
OMIM Id: 162830
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic immune disease
 -Rare genetic disease
Rare immune disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0002684) Thickened calvaria 32 / 7739
2
(HPO:0001433) Hepatosplenomegaly 78 / 7739
3
(HPO:0011897) Neutrophillia 4 / 7739
4
(HPO:0002863) Myelodysplasia 30 / 7739
5
(HPO:0008318) Elevated leukocyte alkaline phosphatase 1 / 7739
6
(OMIM) Segmented neutrophils or band cells greater than 70% 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Herring et al. (1974) described an apparently autosomal dominant form of lifelong, persistent neutrophilia in a mother and 3 of her 4 children. The neutrophils were morphologically and functionally normal. Associated findings were hepatosplenomegaly, histiocytes of Gaucher type, ...
Molecular genetics OMIM 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 ...