ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

4 OMIM references -
2 associated genes
No signs/symptoms info

Alpha-1-antitrypsin deficiency

Autosomal dominant severe congenital neutropenia

SERPINA1	(UniProt - OMIM)		ELANE	(UniProt - OMIM)
			GFI1	(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		Autosomal dominant severe congenital 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 2 MeSH references: C531610 / D019896		External references: 4 OMIM references - No MeSH references

Alpha-1-antitrypsin deficiency
	Very frequent - Autosomal recessive inheritance - Emphysema - Hepatocellular liver disease / hepatic failure Frequent - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) Occasional - Nephrotic syndrome
Autosomal dominant severe congenital neutropenia
(no data available)