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

More general terms

• hemophilia
• genetic disease of the blood/bone marrow

Additional terms

• 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)

Database

• OMIM: https://mirror.omim.org/entry/227300