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Alpha-1-antitrypsin deficiency

1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Spastic paraplegia - Paget disease of bone

1 associated gene
No signs/symptoms info

Alpha-1-antitrypsin deficiency

Spastic paraplegia - Paget disease of bone

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SERPINA1	(0.63)	VCP

Citations in the biomedical literature:

Alpha-1-antitrypsin deficiency		Spastic paraplegia - Paget disease of bone

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare renal disease - Rare respiratory disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	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: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 2 MeSH references: C531610 / D019896		External references: No 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
Spastic paraplegia - Paget disease of bone
(no data available)