ODCs

Cytoscape Web

Click node...

Alpha-1-antitrypsin deficiency

1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Cyclic neutropenia

1 OMIM reference -
1 associated gene
15 signs/symptoms

Alpha-1-antitrypsin deficiency

Cyclic neutropenia

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Alpha-1-antitrypsin deficiency		Cyclic neutropenia

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare renal disease - Rare respiratory disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		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 - 2 MeSH references: C531610 / D019896		External references: 1 OMIM reference - 1 MeSH reference: C536227

Alpha-1-antitrypsin deficiency		Cyclic neutropenia
	Very frequent - Autosomal recessive inheritance - Emphysema - Hepatocellular liver disease / hepatic failure Frequent - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) Occasional - Nephrotic syndrome		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