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Cyclic neutropenia
1 OMIM reference -
1 associated gene
27 connected diseases
15 signs/symptoms
Disease Type of connection
Autosomal dominant severe congenital neutropenia
Alpha-1-antitrypsin deficiency
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Alpha-1-antichymotrypsin deficiency
Congenital alpha2 antiplasmin deficiency
Congenital high-molecular-weight kininogen deficiency
Hereditary angioedema type 1
Hereditary angioedema type 2
Immunodeficiency due to an early component of complement deficiency
Congenital plasminogen activator inhibitor type 1 deficiency
Behavioral variant of frontotemporal dementia
CLN11 disease
Progressive non-fluent aphasia
Semantic dementia
Atypical chronic myeloid leukemia
Autosomal dominant cutis laxa
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Budd-Chiari syndrome
Cerebral sinovenous thrombosis
Chronic neutrophilic leukemia
Congenital factor V deficiency
East Texas bleeding disorder
Hereditary neutrophilia
Oligodontia
Supravalvular aortic stenosis
WHIM syndrome
Williams syndrome
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536227

Gene symbol UniProt reference OMIM reference
ELANE P08246130130
Very frequent
- Anaemia
- Asthenia / fatigue / weakness
- Chronic skin infection / ulcerations / ulcers / cancrum
- Fever / chilling
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia

Frequent
- Alveolysis / paraodontitis

Occasional
- Acute abdominal pain / colic
- Autosomal dominant inheritance
- Enanthema / aphtosa / aphta / leukoplakia
- Eosinophils anomalies / hypereosinophilia
- Lymphadenopathy / polyadenopathies
- Multiple caries
- Repeat respiratory infections
- Thrombocytopenia / thrombopenia