Details of Disease

General Information of Disease (ID: DISDHTS2)

Disease Name Factor V deficiency
Synonyms factor V deficiency
Definition A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.
Disease Hierarchy
DISEXNCF: Coagulation protein disease
DISDHTS2: Factor V deficiency
Disease Identifiers
MONDO ID
MONDO_0020586
UMLS CUI
C4317320
MedGen ID
1369551
HPO ID
HP:0003225
SNOMED CT ID
4320005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F5 TT1O264 Strong Genetic Variation [1]
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References

1 A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population.Haematologica. 2001 Jun;86(6):629-33.