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Alpha-1-antitrypsin deficiency
1 OMIM reference -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
Familial pancreatic carcinoma
5 OMIM references -
8 associated genes
No signs/symptoms info
Alpha-1-antitrypsin deficiency
Familial pancreatic carcinoma

SERPINA1
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
BRCA2
(UniProt - OMIM)
CDKN2A
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
MANF
(UniProt - OMIM)
PALB2
(UniProt - OMIM)
SMAD4
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SERPINA1
(0.63)
SMAD4


Citations in the biomedical literature:


Alpha-1-antitrypsin deficiency
SERPINA1
Familial pancreatic carcinoma
BRCA1 BRCA2 CDKN2A KRAS MANF PALB2
SMAD4 TP53



Alpha-1-antitrypsin deficiency
Familial pancreatic carcinoma

Synonym(s):
(no synonyms)

Synonym(s):
- Familial pancreatic cancer
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare renal disease
- Rare respiratory disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
2 MeSH references: C531610 / D019896
External references:
5 OMIM references -
1 MeSH reference: C535837
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


Familial pancreatic carcinoma

(no data available)