Details of Disease

General Information of Disease (ID: DISZM9BG)

• Disease Name: Combined deficiency of factor V and factor VIII
• Synonyms: FV and FVIII combined deficiency; familial multiple coagulation factor deficiency; F5F8D; combined deficiency of factor V and factor type VIII
• Definition: Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.
• Disease Hierarchy:
  DISEXNCF: Coagulation protein disease
  DIS27CUA: Bleeding disorder
  DISZM9BG: Combined deficiency of factor V and factor VIII
• Disease Identifiers:
  MONDO ID: MONDO_0018175
  MESH ID: C565577
  UMLS CUI: C1856883
  MedGen ID: 384006
  Orphanet ID: 35909
  SNOMED CT ID: 715559004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F8	TT1290U	Limited	Biomarker	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRX	OTH435SV	Limited	Biomarker	[2]
LMAN1	OTYHKDEO	Supportive	Autosomal recessive	[3]
MCFD2	OTM0XU0U	Supportive	Autosomal recessive	[4]

References

• [1] Low factor V level ameliorates bleeding diathesis in patients with combined deficiency of factor V and factor VIII.Blood. 2019 Nov 14;134(20):1745-1754. doi: 10.1182/blood.2018886069.
• [2] Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.FEBS Lett. 2010 Mar 5;584(5):878-82. doi: 10.1016/j.febslet.2010.02.009. Epub 2010 Feb 9.
• [3] Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell. 1998 Apr 3;93(1):61-70. doi: 10.1016/s0092-8674(00)81146-0.
• [4] Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet. 2003 Jun;34(2):220-5. doi: 10.1038/ng1153.