Prepair 1000+

Gene: LMAN1

Green List (high evidence)

OMIM: "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 "

PMID: 23852824 "Symptoms of F5F8D are generally mild. Comparison of relatively large cohorts of F5F8D in
India, Iran, and Israel indicates that bleeding from trauma/surgery is the most frequently reported clinical manifestation. Common spontaneous bleeding symptoms include epistaxis, gum bleeding, easy bruising, and menorrhagia. Less frequently reported are hemarthroses, gastrointestinal bleeding, hematuria, and intracranial bleeding. Because of the mild-to-moderate bleeding symptoms, treatment is on demand depending on the severity of bleeding."

Created: 13 Dec 2024, 5:26 a.m. | Last Modified: 13 Dec 2024, 5:26 a.m.

Panel Version: 1.832

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined factor V and VIII deficiency MIM#227300

Publications

• 23852824