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3 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Combined deficiency of factor V and factor VIII
Distal myopathy with posterior leg and anterior hand involvement

LMAN1 FLNC
MCFD2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMAN1
(0.63)
FLNC



Citations in the biomedical literature:


Combined deficiency of factor V and factor VIII
LMAN1 MCFD2
Distal myopathy with posterior leg and anterior hand involvement
FLNC



Combined deficiency of factor V and factor VIII
Distal myopathy with posterior leg and anterior hand involvement

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

Synonym(s):
- Distal ABD-filaminopathy

Classification (Orphanet):
- 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: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: no data available
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.