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Alpha-1-antitrypsin deficiency
1 OMIM reference -
1 associated gene
21 connected diseases
6 signs/symptoms
Disease Type of connection
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hereditary chronic pancreatitis
Autosomal dominant severe congenital neutropenia
Cyclic neutropenia
Granulomatosis with polyangiitis
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal agammaglobulinemia
Behavioral variant of frontotemporal dementia
Familial pancreatic carcinoma
Fanconi anemia
Fibronectin glomerulopathy
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary hemorrhagic telangiectasia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Myhre syndrome
Precursor B-cell acute lymphoblastic leukemia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
(no synonyms)

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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

Gene symbol UniProt reference OMIM reference
SERPINA1 P01009107400
Very frequent
- Autosomal recessive inheritance
- Emphysema
- Hepatocellular liver disease / hepatic failure

- Hepatitis / icterus / cholestasis
- Hepatomegaly / liver enlargement (excluding storage disease)

- Nephrotic syndrome