ODCs

Click node...

1 OMIM reference -
1 associated gene
6 signs/symptoms

COMMON GENES: 1

1 associated gene
No signs/symptoms info

Alpha-1-antitrypsin deficiency

Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

Citations in the biomedical literature:

Alpha-1-antitrypsin deficiency		Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare renal disease - Rare respiratory disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic 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: - 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
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
(no data available)