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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
No signs/symptoms info
CADDS
Combined deficiency of factor V and factor VIII

ABCD1 LMAN1
BCAP31 MCFD2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BCAP31
(0.67)
LMAN1



Citations in the biomedical literature:


CADDS
ABCD1 BCAP31
Combined deficiency of factor V and factor VIII
LMAN1 MCFD2



CADDS
Combined deficiency of factor V and factor VIII

Synonym(s):
- Contiguous ABCD1 DXS1357E deletion syndrome
- Zellweger-like contiguous gene deletion syndrome

Synonym(s):
- F5F8D
- FV and FVIII combined deficiency
- Familial multiple coagulation factor deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references

No signs/symptoms info available.