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Alpha-1-antitrypsin deficiency

1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 2

Hereditary chronic pancreatitis

1 OMIM reference -
5 associated genes
No signs/symptoms info

Alpha-1-antitrypsin deficiency

Hereditary chronic pancreatitis

SERPINA1	(UniProt - OMIM)		CFTR	(UniProt - OMIM)
			CTRC	(UniProt - OMIM)
			PRSS1	(UniProt - OMIM)
			PRSS2	(UniProt - OMIM)
			SPINK1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SERPINA1 SERPINA1	(0.52) (0.52)	PRSS1 PRSS2

Citations in the biomedical literature:

Alpha-1-antitrypsin deficiency		Hereditary chronic pancreatitis

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the digestive system -

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

	External references: 1 OMIM reference - 2 MeSH references: C531610 / D019896		External references: 1 OMIM reference - 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
Hereditary chronic pancreatitis
(no data available)