Entry - 306800 - HEMOPHILIA A WITH VASCULAR ABNORMALITY - OMIM

 
 
306800

HEMOPHILIA A WITH VASCULAR ABNORMALITY


Clinical Synopsis
 

Skin
- Ecchymoses common
- Petechiae and purpura do not occur
GI
- Gastrointestinal hemorrhage
Joints
- Hemarthroses
- Degenerative joint disease
Heme
- Persistent bleeding after trauma
Misc
- Partial factor VIII deficiency in heterozygous carriers
Lab
- Antihemophilic globulin (factor VIII) deficiency
- Prolonged whole-blood clotting time in severe hemophilia
- Normal whole-blood clotting time in mild cases
- Bleeding time normal
- Capillary fragility
- Platelet count normal
- Platelet function normal
Inheritance
- X-linked
▲ Close

▼ TEXT

Egeberg (1965) studied a Norwegian family in which at least 7 persons had a disorder combining features of hemophilia A and of Von Willebrand disease. The affected males showed mild to moderately severe bleeding tendency, and the females a less severe tendency. Factor VIII was decreased, more in males than in females. Bleeding time was prolonged and capillary fragility demonstrated in both sexes. The pedigree was compatible with X-linked transmission.


▼ REFERENCES

  1. Egeberg, O. An inherited hemorrhagic trait with characteristics resembling both mild hemophilia of type A and von Willebrand's disease. Scand. J. Clin. Lab. Invest. 17 (suppl. 84): 25-32, 1965. [PubMed: 14260751, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
mimadm : 2/27/1994
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 10/18/1986

306800

HEMOPHILIA A WITH VASCULAR ABNORMALITY



TEXT

Egeberg (1965) studied a Norwegian family in which at least 7 persons had a disorder combining features of hemophilia A and of Von Willebrand disease. The affected males showed mild to moderately severe bleeding tendency, and the females a less severe tendency. Factor VIII was decreased, more in males than in females. Bleeding time was prolonged and capillary fragility demonstrated in both sexes. The pedigree was compatible with X-linked transmission.


REFERENCES

  1. Egeberg, O. An inherited hemorrhagic trait with characteristics resembling both mild hemophilia of type A and von Willebrand's disease. Scand. J. Clin. Lab. Invest. 17 (suppl. 84): 25-32, 1965. [PubMed: 14260751] [Full Text: https://doi.org/10.3109/00365516509077279]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
mimadm : 2/27/1994
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 10/18/1986



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 14, 2025