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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Cyclic neutropenia

SERPINA1 ELANE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SERPINA1
(0.87)
ELANE



Citations in the biomedical literature:


Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
SERPINA1
Cyclic neutropenia
ELANE



Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Cyclic neutropenia

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

Classification (ICD10):
(no data available)
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: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536227

Cyclic neutropenia

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


Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

(no data available)