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

GGCX
(UniProt - OMIM)
 TF
(UniProt - OMIM)
VKORC1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VKORC1
(0.63)
TF


Citations in the biomedical literature:


Hereditary combined deficiency of vitamin K-dependent clotting factors
GGCX VKORC1
Congenital atransferrinemia
TF



Hereditary combined deficiency of vitamin K-dependent clotting factors
Congenital atransferrinemia

Synonym(s):
- Hereditary combined deficiency of factors II, VII, IX and X
Synonym(s):
- Congenital hypotransferrinemia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538259
Congenital atransferrinemia

Very frequent
- Anaemia
- Autosomal recessive inheritance

Frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Storage liver disease

Occasional
- Arthritis / synovitis / synovial proliferation
- Hypothyroidy
- Structural anomalies of the cardio-circulatory system
- Structural anomalies of the pancreas


Hereditary combined deficiency of vitamin K-dependent clotting factors

(no data available)