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Autosomal dominant severe congenital neutropenia
4 OMIM references -
2 associated genes
40 connected diseases
No signs/symptoms info
Disease Type of connection
Cyclic neutropenia
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Alpha-1-antitrypsin deficiency
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Alpha-1-antichymotrypsin deficiency
Congenital alpha2 antiplasmin deficiency
Brittle cornea syndrome
Anaplastic ependymoma
Congenital high-molecular-weight kininogen deficiency
Hereditary angioedema type 1
Hereditary angioedema type 2
Immunodeficiency due to an early component of complement deficiency
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
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
Supravalvular aortic stenosis
WHIM syndrome
Williams syndrome
Spinocerebellar ataxia type 1
(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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
ELANE P08246130130
GFI1 Q99684600871
No signs/symptoms info available.