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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Hereditary combined deficiency of vitamin K-dependent clotting factors
Alpha-1-antitrypsin deficiency

GGCX SERPINA1
VKORC1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VKORC1
(0.63)
SERPINA1



Citations in the biomedical literature:


Hereditary combined deficiency of vitamin K-dependent clotting factors
GGCX VKORC1
Alpha-1-antitrypsin deficiency
SERPINA1



Hereditary combined deficiency of vitamin K-dependent clotting factors
Alpha-1-antitrypsin deficiency

Synonym(s):
- Hereditary combined deficiency of factors II, VII, IX and X

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C531610 / D019896

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 combined deficiency of vitamin K-dependent clotting factors

(no data available)