Cyclic neutropenia

General Information (adopted from Orphanet):

Synonyms, Signs: Cyclic hematopoiesis, CyN
Number of Symptoms 28
OrphanetNr: 2686
OMIM Id: 162800
ICD-10: D70
UMLs: C0221023
MeSH: C536227
MedDRA: 10053176
Snomed: 191347008

Prevalence, inheritance and age of onset:

Prevalence: < 0.9 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
27612320 [IBIS]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

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

Comment:

The biological basis for the substantial difference in risk of leukemic evolution for CyN (Cyclic neutropenia) versus SCN (Neutropenia, severe congenital, 1) is not known (PMID:25427142). CyN patients show an oscillation of ANC (absolute neutrophil count) with 3 weekly periods of severe neutropenia (PMID:23463630). The typical morphological finding is a myeloid maturation arrest at the promyelocyte/myelocyte stage seen in conventional bone marrow smears. Heterozygous ELANE mutations are present in 80–100% of individuals with CyN and in 35–63% of SCN cases (PMID:21425445).

Symptom Information: Sort by abundance 

1
(HPO:0002722) Recurrent abscess formation 16012323 IBIS 4 / 7739
2
(HPO:0002014) Diarrhea 16012323 IBIS 225 / 7739
3
(HPO:0002090) Pneumonia 21425445 IBIS 59 / 7739
4
(HPO:0002754) Osteomyelitis 21425445 IBIS 37 / 7739
5
(HPO:0005224) Rectal abscess 21425445 IBIS 10 / 7739
6
(HPO:0002840) Lymphadenitis 21425445 IBIS 7 / 7739
7
(HPO:0000388) Otitis media 21425445 IBIS 28 / 7739
8
(HPO:0005549) Congenital neutropenia 21425445 IBIS 6 / 7739
9
(MedDRA:10053176) Cyclic neutropenia 21425445 IBIS 2 / 7739
10
(HPO:0010974) Abnormality of myeloid leukocytes 21595885 IBIS 6 / 7739
11
(HPO:0000230) Gingivitis Very frequent [IBIS] 21425445 IBIS 31 / 7739
12
(HPO:0012311) Monocytosis 21595885 IBIS 10 / 7739
13
(HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] Very frequent [IBIS] 25427142 IBIS 47 / 7739
14
(HPO:0002719) Recurrent infections Very frequent [IBIS] 25427142 IBIS 107 / 7739
15
(HPO:0000153) Abnormality of the mouth 25427142 IBIS 60 / 7739
16
(HPO:0011830) Abnormality of oral mucosa Occasional [Orphanet] 25427142 IBIS 47 / 7739
17
(HPO:0010280) Stomatitis Very frequent [IBIS] 21425445 IBIS 8 / 7739
18
(HPO:0011107) Recurrent aphthous stomatitis Very frequent [IBIS] 25427142 IBIS 13 / 7739
19
(HPO:0000670) Carious teeth Occasional [Orphanet] 8708974 IBIS 145 / 7739
20
(HPO:0000704) Periodontitis Frequent [Orphanet] Very frequent [IBIS] 21425445 IBIS 24 / 7739
21
(HPO:0040165) Periostitis 21425445 IBIS 2 / 7739
22
(HPO:0001873) Thrombocytopenia Occasional [Orphanet] 16012323 IBIS 224 / 7739
23
(HPO:0001903) Anemia Very frequent [Orphanet] 16012323 IBIS 289 / 7739
24
(HPO:0001879) Abnormality of eosinophils Occasional [Orphanet] 21595885 IBIS 20 / 7739
25
(HPO:0001945) Fever Very frequent [Orphanet] Very frequent [IBIS] 25427142 IBIS 218 / 7739
26
(HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 11737691 IBIS 254 / 7739
27
(HPO:0100806) Sepsis Very frequent [Orphanet] 25427142 IBIS 48 / 7739
28
(HPO:0200042) Skin ulcer Very frequent [Orphanet] 11737691 IBIS 138 / 7739

Associated genes:

ELANE;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cyclic neutropenia is a rare disease characterized by regular 21-day cyclic fluctuations in the number of blood neutrophils, monocytes, eosinophils, lymphocytes, platelets, and reticulocytes. The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ...
Clinical Description OMIM Hahneman and Alt (1958) described a 29-year-old man who from an early age had neutropenia that recurred every 21 days and was accompanied by infection. Complete remission occurred at age 18 years. The man's daughter was seen at ...
Molecular genetics OMIM Horwitz et al. (1999) identified 7 different single-basepair substitutions in the ELANE gene (e.g., 130130.0001-130130.0005), encoding neutrophil elastase (ELA2). In each of 13 families studied, a mutation in ELANE was found on a unique haplotype; the haplotype carrying ...