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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
Adult-onset proximal spinal muscular atrophy, autosomal dominant
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary combined deficiency of vitamin K-dependent clotting factors
Adult-onset proximal spinal muscular atrophy, autosomal dominant

GGCX
(UniProt - OMIM)
 VAPB
(UniProt - OMIM)
VKORC1
(UniProt - OMIM)

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


Citations in the biomedical literature:


Hereditary combined deficiency of vitamin K-dependent clotting factors
GGCX VKORC1
Adult-onset proximal spinal muscular atrophy, autosomal dominant
VAPB



Hereditary combined deficiency of vitamin K-dependent clotting factors
Adult-onset proximal spinal muscular atrophy, autosomal dominant

Synonym(s):
- Hereditary combined deficiency of factors II, VII, IX and X
Synonym(s):
- Finkel disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -
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: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.