Athrombia, Essential |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... |
OMIM:609821 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... |
OMIM:124900 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia, Prolonged bleeding time |
OMIM:177820 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... |
OMIM:173470 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... |
OMIM:614009 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... |
OMIM:187800 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Me... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... |
OMIM:605735 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time |
OMIM:614201 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... |
OMIM:601709 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Menor... |
OMIM:139090 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
OMIM:614158 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Bruising susceptibility, Impaired platelet aggregation, Abnormal ... |
OMIM:601399 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... |
OMIM:193400 |
Factor V Deficiency |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... |
OMIM:227400 |
Hermansky-Pudlak Syndrome 3 |
|
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... |
OMIM:614072 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:617443 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility |
OMIM:614076 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
Hermansky-Pudlak Syndrome 5 |
|
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... |
OMIM:614074 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... |
ORPHA:274 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time |
OMIM:185050 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... |
OMIM:614075 |
Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant platelets, Thrombocytopen... |
ORPHA:238459 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired neutrophil chemotaxis, Reduce... |
OMIM:619374 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Thrombocytopenia, Epistaxis, Prolonged bleeding time |
OMIM:314050 |
Fechtner syndrome |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Giant platelets, Thrombocytopenia, Prolo... |
OMIM:153640 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... |
OMIM:619172 |
Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... |
OMIM:614077 |
Factor Xi Deficiency |
|
Abnormal bleeding |
OMIM:612416 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Myh9-Related Disease |
|
Bruising susceptibility, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet volume... |
ORPHA:182050 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Abnormal platelet morphology, Thrombocytopenia |
OMIM:300835 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function |
ORPHA:2585 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... |
OMIM:604928 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Sitosterolemia 1 |
|
Abnormal bleeding, Impaired platelet aggregation, Giant platelets, Thrombocytopenia |
OMIM:210250 |
Essential Thrombocythemia |
|
Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time |
ORPHA:3318 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Reduced natural killer cell activity, Impaired ADP-induced plat... |
OMIM:608233 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Intracranial hemorrhage, Bone marrow hypocellularity, Thrombocytopenia, ... |
ORPHA:3226 |
Mgat2-Cdg |
|
Decreased circulating antibody level, Abnormal bleeding, Impaired platelet aggregation, Decreased... |
ORPHA:79329 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Pulmonary hemorrhage, Macrothrombocytopenia, Thrombocytopenia, Decreased... |
OMIM:603585 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding time |
ORPHA:90308 |
Hermansky-Pudlak Syndrome 1 |
|
Bruising susceptibility, Hematochezia, Gingival bleeding, Ecchymosis, Epistaxis, Prolonged bleedi... |
OMIM:203300 |
Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... |
ORPHA:324636 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:600903 |
Wiskott-Aldrich Syndrome |
|
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Intracrania... |
ORPHA:906 |
Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Melena, Petechiae, Increased circulating I... |
OMIM:301000 |
Macs Syndrome |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:613075 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time |
ORPHA:809 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Abnormal bleeding, Impaired neutrophil chemotaxis, Thromboc... |
ORPHA:2968 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Chédiak-Higashi Syndrome |
|
Bruising susceptibility, Abnormal bleeding, Abnormal platelet function, Increased proportion of C... |
ORPHA:167 |
Noonan Syndrome |
|
Abnormal bleeding, Abnormal platelet function |
ORPHA:648 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
Classical Ehlers-Danlos Syndrome |
|
Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
ORPHA:287 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time |
OMIM:618280 |
Congenital Factor Xi Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Gas... |
ORPHA:329 |