Congenital factor V deficiency- MedGen UID:
- 4633
- •Concept ID:
- C0015499
- •
- Disease or Syndrome
Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by van Wijk et al., 2001).
Factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor- MedGen UID:
- 346462
- •Concept ID:
- C1856882
- •
- Disease or Syndrome
Factor 5 and Factor VIII, combined deficiency of, 2- MedGen UID:
- 462239
- •Concept ID:
- C3150889
- •
- Disease or Syndrome
Combined deficiency of factor V and factor VIII type 2 (F5F8D2) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV (612309) or FVIII (300841), respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D2 is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004).
For a general phenotypic description and a discussion of genetic heterogeneity of F5F8D, see 227300.
Factor V and factor VIII, combined deficiency of, type 1- MedGen UID:
- 1637212
- •Concept ID:
- C4551981
- •
- Disease or Syndrome
Combined deficiency of factor V and factor VIII (F5F8D1) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of factor V (612309) or factor VIII (300840), respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004).
Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII
Another form of combined deficiency of factor V and factor VIII (F5F8D2; 613625) is caused by mutation in the MCFD2 gene (607788) on chromosome 2p21.
Congenital disorder of glycosylation, type IIw- MedGen UID:
- 1794196
- •Concept ID:
- C5561986
- •
- Disease or Syndrome
Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021).
For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).