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multiple coagulation factor deficiency 1 (MCFD1)
Etiology:
- combined deficiency in coagulation factors, factor V & factor VIII
Epidemiology: rare
Pathology: coagulation disorder
Genetics:
- autosomal recessive
- linked to mutations in ERGIC53 & MCFD2 genes
Clinical manifestations:
- moderate bleeding tendency
Laboratory:
- factor V & factor VIII levels in the range of 5-30% of normal
Related
coagulation factor V; activated protein C cofactor; proaccelerin, labile factor; contains: coagulation factor V heavy chain; coagulation factor V light chain (F5)
coagulation factor VIII; antihemophilic factor; AHF; procoagulant component; contains: factor VIIIa heavy chain, 200 kD & 92 isoforms; factor VIII B chain; factor VIIIa light chain (F8, F8C)
ERGIC-53 protein; ER-Golgi intermediate compartment 53 kD protein; Gp58; intracellular mannose-specific lectin MR60; lectin mannose-binding 1 (LMAN1, ERGIC53, F5F8D)
General
hemophilia
genetic disease of the blood/bone marrow
Database Correlations
OMIM 227300
References
OMIM :accession 227300