loading...| Preferred Name |
Von Willebrand disease type 2A |
| ID |
http://www.orpha.net/ORDO/Orphanet_166084 |
| definition |
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
ICD-11:3B12 OMIM:613554 UMLS:C1282968 ICD-10:D68.0 |
| label |
Von Willebrand disease type 2A |
| notation |
ORPHA:166084 Clinical subtype |
| prefixIRI |
ORDO:Orphanet_166084 |
| prefLabel |
Von Willebrand disease type 2A |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| subClassOf |