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Von Willebrand disease type 2N
Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).
ORPHA:166093Classification level: Subtype of disorder
- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: -
- ICD-10: D68.0
- OMIM: 613554
- UMLS: C1282975
- MeSH: -
- GARD: -
- MedDRA: -
Abnormal bleeding manifestations are much less frequent in this VWD subtype than in other forms of the disease.
Type 2N VWD is caused by mutations in the VWF gene.
Diagnosis is confirmed by demonstration of a profound decrease or absence of VWF binding capacity for FVIII. This factor VIII binding assay also allows type 2N VWD to be distinguished from hemophilia A (see this term).
Transmission is autosomal recessive.
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