You are here: Home / Rare Disease Information / Rare Disease Database

Search Rare Diseases

Enter a disease name or synonym to search NORD's database of reports.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

Factor VII Deficiency

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Helge Hartung, MD, Attending Physician, Children's Hospital of Philadelphia, Division of Hematology, for assistance in the preparation of this report.

Synonyms of Factor VII Deficiency

  • Alexander's disease
  • congenital factor VII deficiency
  • inherited factor VII deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Factor VII deficiency is a rare genetic bleeding disorder characterized by a deficiency or reduced activity of clotting factor VII. Clotting factors are specialized proteins that are essential for the blood to clot normally. Individuals with factor VII deficiency can experience prolonged, uncontrolled bleeding episodes. The severity of factor VII deficiency can vary greatly from one person to another. Some individuals may have no symptoms (asymptomatic); others may develop mild, moderate or potentially severe, life-threatening complications as early as in infancy. Factor VII deficiency is caused by mutations of the F7 gene and is inherited as an autosomal recessive disorder.

Introduction
Factor VII deficiency was first described in the medical literature by Dr. Alexander, et al. in 1951 and was referred to as prothrombin conversion accelerator deficiency. The disorder has also been known as Alexander's disease. In extremely rare instances, factor VII deficiency can be acquired during life; this report deals with the genetic form, which is present at birth (although symptoms may develop later).

Organizations related to Factor VII Deficiency

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.

 
Copyright ©2014 NORD - National Organization for Rare Disorders, Inc. All rights reserved.