Дефіцит цитозольної фосфоліпази-А2 альфа, асоційований з кровотечею
ORPHA:477787· ICD-10 D69.1· Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Визначення(English summary)
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcera. Mildly reduced levels of coagulation factor XI have been reported in addition.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood