|
1
|
(HPO:0000132)
|
Menorrhagia |
|
|
|
|
40 / 7739
|
|
2
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
|
3
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
4
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0005261)
|
Joint hemorrhage |
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0008148)
|
Impaired epinephrine-induced platelet aggregation |
|
|
|
|
3 / 7739
|
|
7
|
(OMIM)
|
Moderate-severe bleeding tendencies (epistaxis, menorrhagia, hemarthrosis, easy bruisability) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Mild thrombocytopenia |
|
|
|
|
5 / 7739
|
|
9
|
(OMIM)
|
Mildly decreased to low-normal platelet count (80-150 x 10(9)/L) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Bleeding time normal to mildly prolonged |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Increased platelet content of PLAU |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Degraded platelet alpha-granule proteins |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Reduced platelet aggregation response to adenosine 5'-diphosphate (ADP) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Absent platelet aggregation response to epinephrine |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Normal platelet aggregation response to ristocetin and arachidonic acid (AA) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal platelet fibrinogen |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Normal von Willebrand factor |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Normal thrombospondin |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal beta-thromboglobulin |
|
|
|
|
1 / 7739
|
|
20
|
(MedDRA:10060221)
|
Platelet morphology normal |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Decreased multimerin |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|