Von Willebrand disease, platelet type

General Information (adopted from Orphanet):

Synonyms, Signs: BDPLT3
PT-VWD
VON WILLEBRAND DISEASE, PLATELET-TYPE
BLEEDING DISORDER, PLATELET-TYPE, 3
VWDP
Pseudo-Von Willebrand disease
Pseudo-Von Willebrand disease type 2B
Number of Symptoms 5
OrphanetNr: 52530
OMIM Id: 177820
ICD-10: D69.8
UMLs:
MeSH:
MedDRA:
Snomed: 128115005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hemorrhagic disorder due to a platelets receptors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003010) Prolonged bleeding time 88 / 7739
2
 (HPO:0004854) Intermittent thrombocytopenia 3 / 7739
3
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
 (OMIM) Decreased high molecular weight plasma factor VIII/ vWF multimers 1 / 7739
5
 (OMIM) Increased platelet aggregation with ristocetin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Platelet-type von Willebrand disease, also known as pseudo-von Willebrand disease, is an autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired ...
Clinical Description OMIM Weiss et al. (1982) demonstrated that the clinical and laboratory findings of von Willebrand disease (VWD; see 193400) can be mimicked by an intrinsic platelet defect, which they observed in 4 generations of a Puerto Rican kindred: great-grandmother, ...
Molecular genetics OMIM In 7 affected members of a family with pseudo-VWD, Miller et al. (1991) identified a heterozygous mutation in the GP1BA gene (606672.0003). The mutation was absent in 6 unaffected family members.

In a father and 2 ...