Bleeding disorder vascular-type (BDVAS) is a novel autosomal dominant disorder associated with episodic impaired microcirculation. Patients present a severe atypical bleeding diathesis despite unaltered platelet function. It has been reported that mutations in APOLD1 cause this disease. APOLD1 encodes apolipoprotein L domain-containing 1, which was recently identified as an endothelial cell early response protein induced after ischemia and expected to regulate endothelial cell signaling and vascular function.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
3B6Y Other specified coagulation defects, purpura or other haemorrhagic or related conditions
H02749 Bleeding disorder vascular-type
