Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Athrombia, Essential |
|
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... |
OMIM:209050 |
Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time |
OMIM:177820 |
Glanzmann Thrombasthenia 2 |
|
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... |
OMIM:619267 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... |
OMIM:615888 |
Bleeding Disorder, Platelet-Type, 11 |
|
Epistaxis, Bruising susceptibility, Ecchymosis, Impaired ristocetin-induced platelet aggregation,... |
OMIM:614201 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:608404 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... |
OMIM:273800 |
Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
Factor V Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... |
OMIM:227400 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... |
OMIM:231200 |
Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Von Willebrand Disease, Type 3 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
Hermansky-Pudlak Syndrome 7 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... |
OMIM:614076 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... |
OMIM:155100 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
Von Willebrand Disease, Type 1 |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... |
OMIM:193400 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired thrombin-induced platelet aggrega... |
OMIM:139090 |
Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... |
OMIM:187900 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:188025 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Petechiae, Prolonged bleeding time, Bruising susceptibility |
OMIM:314050 |
Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time |
ORPHA:238459 |
Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Impaired arac... |
OMIM:601399 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Myh9-Related Disease |
|
Prolonged bleeding time, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis |
ORPHA:182050 |
Hermansky-Pudlak Syndrome 5 |
|
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Prolonged bleeding... |
OMIM:614074 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Essential Thrombocythemia |
|
Bruising susceptibility, Abnormal bleeding, Prolonged bleeding time |
ORPHA:3318 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time |
ORPHA:3226 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage |
ORPHA:90308 |
Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleedi... |
OMIM:203300 |
Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... |
OMIM:614075 |
Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Factor Xiii, B Subunit, Deficiency Of |
|
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Abnormal umbilical stump bleeding, Prolon... |
OMIM:613235 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hematomas, Recur... |
ORPHA:906 |
Macs Syndrome |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:613075 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time |
ORPHA:809 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... |
ORPHA:335 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Hermansky-Pudlak Syndrome 2 |
|
Impaired ADP-induced platelet aggregation, Prolonged bleeding time |
OMIM:608233 |
Acquired Von Willebrand Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Subcutaneous hemorrhage, Intracr... |
ORPHA:99147 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Internal hemorrhage, Prolonged prothrombin time, Macular purpura |
ORPHA:49566 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Epistaxis, Petechiae, Hematemesis, Melena, Purpura, Prolonged bleeding time |
OMIM:301000 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Cog8-Cdg |
|
Prolonged prothrombin time, Spontaneous hematomas |
ORPHA:95428 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Relapsing Fever |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
ORPHA:91547 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged prothrombin time |
ORPHA:64743 |
Classical Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Prolonged bleeding time, Ecchymosis |
ORPHA:287 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time |
OMIM:614300 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time |
OMIM:613070 |
Sialuria |
|
Prolonged prothrombin time |
ORPHA:3166 |
Infantile Liver Failure Syndrome 3 |
|
Prolonged prothrombin time |
OMIM:618641 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time |
OMIM:618280 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:613812 |
Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Prolonged prothrombin time |
ORPHA:96168 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Prolonged prothrombin time |
ORPHA:99901 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time |
ORPHA:367 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time |
ORPHA:79303 |
Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... |
ORPHA:331 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Prolonged prothrombin time |
OMIM:616271 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time |
ORPHA:88618 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Prolonged prothrombin time |
OMIM:267700 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged prothrombin time |
ORPHA:71212 |
Hellp Syndrome |
|
Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage |
ORPHA:244242 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Prolonged prothrombin time |
OMIM:618329 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Prolonged prothrombin time |
OMIM:603553 |
Celiac Disease, Susceptibility To, 1 |
|
Prolonged prothrombin time |
OMIM:212750 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Prolonged prothrombin time |
OMIM:212065 |
Congenital Disorder Of Glycosylation, Type It |
|
Prolonged prothrombin time |
OMIM:614921 |
Alg12-Cdg |
|
Prolonged prothrombin time |
ORPHA:79324 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Prolonged prothrombin time |
ORPHA:20 |
Kasabach-Merritt Phenomenon |
|
Purpura, Petechiae, Prolonged prothrombin time |
ORPHA:2330 |
Shwachman-Diamond Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:617941 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Isolated Biliary Atresia |
|
Prolonged prothrombin time |
ORPHA:30391 |
Abetalipoproteinemia |
|
Abnormal bleeding, Prolonged prothrombin time |
ORPHA:14 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Prolonged prothrombin time, Melena |
OMIM:276700 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Bruising susceptibility, Excessive bleeding after a venipuncture, Petechiae, I... |
ORPHA:99826 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Prolonged prothrombin time |
ORPHA:309854 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Prolonged prothrombin time |
ORPHA:404454 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged prothrombin time |
ORPHA:247598 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin ti... |
ORPHA:90062 |
Yellow Fever |
|
Abnormal bleeding, Excessive bleeding after a venipuncture, Hematemesis, Internal hemorrhage, Pro... |
ORPHA:99829 |
Primary Sclerosing Cholangitis |
|
Prolonged prothrombin time |
ORPHA:171 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Bleeding with minor or no trauma, Prolonged prothrombin time |
OMIM:619525 |