|
1
|
(HPO:0000421)
|
Epistaxis |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000978)
|
Bruising susceptibility |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0002863)
|
Myelodysplasia |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0000132)
|
Menorrhagia |
|
|
|
|
40 / 7739
|
|
8
|
(HPO:0001872)
|
Abnormality of thrombocytes |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
9
|
(HPO:0003010)
|
Prolonged bleeding time |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
10
|
(HPO:0008320)
|
Impaired collagen-induced platelet aggregation |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0008330)
|
Reduced von Willebrand factor activity |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0011872)
|
Impaired thrombin-induced platelet aggregation |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0011974)
|
Myelofibrosis |
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0012147)
|
Reduced quantity of Von Willebrand factor |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Mild to moderate bleeding tendencies |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Large agranular platelets |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Gray-to-gray-blue platelet on Wright-Giemsa stain |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Gray polymorphonuclear neutrophils |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Bone marrow aspirate shows normal cellularity and reticular fibrosis |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Low-to-normal platelet count |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Median mean platelet volume 13fl |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Normal platelet aggregation response to arachidonic acid (AA) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Reduced platelet aggregation response to collagen and thrombin |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy |
|
|
|
|
1 / 7739
|
|
25
|
(MedDRA:10060220)
|
Platelet factor 4 decreased |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Decreased beta-thromboglobulin |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Decreased thrombospondin |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Decreased fibrinogen |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Decreased platelet derived growth factor |
|
|
|
|
1 / 7739
|
|
30
|
(MedDRA:10064167)
|
Fibronectin decreased |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Increased serum vitamin B12 |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0000858)
|
Menstrual irregularities |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
33
|
(HPO:0100613)
|
Death in early adulthood |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
34
|
(HPO:0000014)
|
Abnormality of the bladder |
Frequent [Orphanet]
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
37
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|