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Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
1 associated gene
21 connected diseases
No signs/symptoms info
Disease Type of connection
Alpha-1-antitrypsin deficiency
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
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
SERPINA1 P01009107400
No signs/symptoms info available.