Von Willebrand Disease, X-Linked Form |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Tatsumi Factor Deficiency |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Glanzmann Thrombasthenia 2 |
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Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... |
OMIM:619267 |
Athrombia, Essential |
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Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... |
OMIM:209050 |
Congenital Factor X Deficiency |
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Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Bleeding Disorder, Platelet-Type, 18 |
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Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... |
OMIM:615888 |
Glanzmann Thrombasthenia |
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Gingival bleeding, Menometrorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding following ci... |
ORPHA:849 |
Glanzmann Thrombasthenia 1 |
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Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 11 |
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Epistaxis, Bruising susceptibility, Ecchymosis, Impaired ristocetin-induced platelet aggregation,... |
OMIM:614201 |
Von Willebrand Disease, Platelet-Type |
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Prolonged bleeding time |
OMIM:177820 |
Congenital Alpha2-Antiplasmin Deficiency |
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Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
Alpha-2-Plasmin Inhibitor Deficiency |
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Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility |
OMIM:262850 |
Bernard-Soulier Syndrome |
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Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... |
OMIM:231200 |
Factor V Deficiency |
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Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... |
OMIM:227400 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
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Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... |
ORPHA:465 |
Prothrombin Deficiency, Congenital |
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Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
Von Willebrand Disease, Type 3 |
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Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
Platelet Glycoprotein Iv Deficiency |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:608404 |
Hemophilia B |
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Menometrorrhagia, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneou... |
ORPHA:98879 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... |
OMIM:155100 |
Pulmonary Arteriovenous Malformation |
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Epistaxis, Abnormal bleeding, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemo... |
ORPHA:2038 |
Hermansky-Pudlak Syndrome 7 |
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Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... |
OMIM:614076 |
Von Willebrand Disease, Type 1 |
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Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... |
OMIM:193400 |
Pulmonary Capillary Hemangiomatosis |
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Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... |
ORPHA:199241 |
Gray Platelet Syndrome |
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Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired thrombin-induced platelet aggrega... |
OMIM:139090 |
Platelet Disorder, Undefined |
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Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Slc35A1-Cdg |
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Pneumonia, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Prolonged bleeding time |
ORPHA:238459 |
Bleeding Disorder, Platelet-Type, 17 |
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Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... |
OMIM:187900 |
Crimean-Congo Hemorrhagic Fever |
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Gingival bleeding, Hepatomegaly, Tachycardia, Jaundice, Purpura, Diffuse alveolar hemorrhage, Bun... |
ORPHA:99827 |
Klippel-Trénaunay Syndrome |
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Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormality of the men... |
ORPHA:90308 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Epistaxis, Bruising susceptibility, Petechiae, Splenomegaly, Prolonged bleeding time |
OMIM:314050 |
Congenital Factor Ii Deficiency |
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Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
Myh9-Related Disease |
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Bruising susceptibility, Spontaneous, recurrent epistaxis, Myocardial infarction, Prolonged bleed... |
ORPHA:182050 |
Hermansky-Pudlak Syndrome 5 |
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Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Metrorrhagia, Prol... |
OMIM:614074 |
Blue Rubber Bleb Nevus |
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Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Congenital Factor Vii Deficiency |
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Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Factor X Deficiency |
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Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Thrombocytopenia, Paris-Trousseau Type |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:188025 |
Neurofibromatosis-Noonan Syndrome |
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Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis |
ORPHA:638 |
Essential Thrombocythemia |
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Abnormal bleeding, Bruising susceptibility, Transient ischemic attack, Splenomegaly, Myocardial i... |
ORPHA:3318 |
Storage Pool Platelet Disease |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Aplasia Cutis Congenita |
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Prolonged bleeding time |
ORPHA:1114 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... |
OMIM:187300 |
Combined Deficiency Of Factor V And Factor Viii |
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Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Long Qt Syndrome 13 |
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Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Thrombophilia Due To Thrombin Defect |
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Pulmonary embolism |
OMIM:188050 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Impaired arac... |
OMIM:601399 |
Deafness-Lymphedema-Leukemia Syndrome |
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Bruising susceptibility, Recurrent respiratory infections, Splenomegaly, Hepatomegaly, Intracrani... |
ORPHA:3226 |
Hermansky-Pudlak Syndrome 1 |
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Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Ecchymosis, ... |
OMIM:203300 |
Mixed Connective Tissue Disease |
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Gastrointestinal hemorrhage, Pleuritis, Splenomegaly, Hepatomegaly, Pulmonary arterial hypertensi... |
ORPHA:809 |
Ehlers-Danlos Syndrome, Vascular Type |
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Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Arteri... |
OMIM:130050 |
Acquired Von Willebrand Syndrome |
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Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
Wiskott-Aldrich Syndrome |
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Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... |
ORPHA:906 |
Bleeding Disorder, Platelet-Type, 12 |
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Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... |
OMIM:605735 |
Hemophilia B |
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Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
Hermansky-Pudlak Syndrome 6 |
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Epistaxis, Recurrent upper respiratory tract infections, Bruising susceptibility, Impaired arachi... |
OMIM:614075 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
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Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
Dentinogenesis Imperfecta |
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Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Congenital Fibrinogen Deficiency |
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Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... |
ORPHA:335 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
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Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
Acquired Purpura Fulminans |
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Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage |
ORPHA:49566 |
Multiple Osteochondromas |
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Pneumothorax, Hemothorax |
ORPHA:321 |
Osteogenesis Imperfecta, Type Xvi |
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Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Macs Syndrome |
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Bronchiectasis, Bruising susceptibility, Prolonged bleeding time, Hypergonadotropic hypogonadism |
OMIM:613075 |
Pulmonary Hypertension, Primary, 4 |
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Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... |
OMIM:615344 |
Hepatoportal Sclerosis |
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Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... |
ORPHA:64743 |
Wiskott-Aldrich Syndrome |
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Gingival bleeding, Epistaxis, Recurrent upper respiratory tract infections, Recurrent pneumonia, ... |
OMIM:301000 |
Hermansky-Pudlak Syndrome 2 |
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Recurrent pneumonia, Hepatosplenomegaly, Impaired ADP-induced platelet aggregation, Splenomegaly,... |
OMIM:608233 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta... |
OMIM:613812 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Prolonged bleeding time |
ORPHA:1901 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hematochezia, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prolonged prothrombin... |
OMIM:214950 |
Congenital Factor Xiii Deficiency |
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Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... |
ORPHA:331 |
Infantile Liver Failure Syndrome 2 |
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Prolonged prothrombin time, Jaundice, Cardiomyopathy |
OMIM:616483 |
Factor Xiii, A Subunit, Deficiency Of |
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Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... |
OMIM:613225 |
Pulmonary Hypertension, Primary, 3 |
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Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... |
OMIM:615343 |
Relapsing Fever |
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Epistaxis, Hypotension, Abnormal bleeding, Jaundice, Prolonged prothrombin time, Tachycardia |
ORPHA:91547 |
Pulmonary Hypertension, Primary, 2 |
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Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... |
OMIM:615342 |
Monosomy 13Q34 |
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Hematochezia, Epistaxis, Hepatic steatosis, Metrorrhagia, Prolonged prothrombin time, Pulmonic st... |
ORPHA:96168 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis,... |
ORPHA:99901 |
Infantile Liver Failure Syndrome 3 |
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Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Prolonged prothrombin ti... |
OMIM:618641 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Dilated cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Portal hypertension, Cirrho... |
ORPHA:367 |
Hellp Syndrome |
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Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged prothrombin time, ... |
ORPHA:244242 |
Noonan Syndrome 9 |
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Prolonged prothrombin time, Pulmonic stenosis |
OMIM:616559 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Jaundice, Cirrhosis, Pleural effusion, Prolonged prothrombin time |
OMIM:617049 |
Cog8-Cdg |
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Prolonged prothrombin time, Spontaneous hematomas |
ORPHA:95428 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Portal fibrosis, Cholestasis, Hepatic steatosis, Prolonged prothrombin time, Pulmonic stenosis |
OMIM:614300 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Scimitar anomaly, Hepatopulmonary fusion, Partial anomalous pulmonary venous re... |
OMIM:618280 |
Congenital Disorder Of Glycosylation, Type It |
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Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepati... |
OMIM:614921 |
Classical Ehlers-Danlos Syndrome |
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Bruising susceptibility, Arterial rupture, Mitral regurgitation, Abnormal heart valve physiology,... |
ORPHA:287 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Cholestasis, Hepatic steatosis, Prolonged neonatal jaundice, Abnormal intra... |
ORPHA:79303 |
Liver Failure, Infantile, Transient |
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Microvesicular hepatic steatosis, Prolonged prothrombin time, Hepatomegaly, Jaundice, Macrovesicu... |
OMIM:613070 |
Sialuria |
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Hepatomegaly, Hepatosplenomegaly, Cholelithiasis, Prolonged prothrombin time |
ORPHA:3166 |
3-Methylglutaconic Aciduria, Type Viib |
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Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Hepatic steatosis, Prolonged pr... |
OMIM:616271 |
Isolated Biliary Atresia |
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Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,... |
ORPHA:30391 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Prolonged prothrombin time, Abnormality of the liver, Cardiomyopathy, Hepatocellular carcinoma |
ORPHA:88618 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Prolong... |
ORPHA:71212 |
Yellow Fever |
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Abnormal bleeding, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Bra... |
ORPHA:99829 |
Primary Sclerosing Cholangitis |
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Hepatic fibrosis, Spider hemangioma, Cholelithiasis, Palmar telangiectasia, Hepatitis, Congestive... |
ORPHA:171 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hepatic fibrosis, Cardiomyopathy, Hepatic steatosis, Prolonged prothrombin time, Hepatomegaly, Pr... |
OMIM:212065 |
Marburg Hemorrhagic Fever |
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Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Capil... |
ORPHA:99826 |
Tyrosinemia, Type I |
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Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Splenomegaly, Pancreatic islet-cell hyp... |
OMIM:276700 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypertrophic cardiomyopathy, Macrovesicular hepatic steatosis, Bile duct proliferation, Prolonged... |
OMIM:618329 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hypotension, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Jaundice, Prolonged proth... |
ORPHA:20 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Micronodular cirrhosis, Hypertrophic cardiomyopathy, Abnormality of the liver, Portal hypertensio... |
ORPHA:309854 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hepatomegaly, Jaundice, Splenomegaly, Prolonged prothrombin time |
OMIM:267700 |
Acute Liver Failure |
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Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Bruising susceptibility, ... |
ORPHA:90062 |
Kasabach-Merritt Phenomenon |
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Petechiae, Hyperhidrosis, Prolonged prothrombin time, Hepatic hemangioma, Purpura |
ORPHA:2330 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatosplenomegaly, Splenomegaly, Prolonged prothrombin time, Hepatomegaly, Jaundice |
OMIM:603553 |
Shwachman-Diamond Syndrome 2 |
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Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Prolonged prothrombin time |
OMIM:617941 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Gastrointestinal hemorrhage, Abnormal bleeding, Cholestasis, Hepatosplenomegaly, Hepatic steatosi... |
ORPHA:247598 |
Celiac Disease, Susceptibility To, 1 |
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Infertility, Prolonged prothrombin time |
OMIM:212750 |
Abetalipoproteinemia |
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Hepatic fibrosis, Abnormal bleeding, Congestive heart failure, Hepatic steatosis, Cirrhosis, Prol... |
ORPHA:14 |
Alg12-Cdg |
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Recurrent respiratory infections, Recurrent pneumonia, Prolonged prothrombin time, Recurrent phar... |
ORPHA:79324 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Nodular regenerative hyperplasia of liver, Micronodular cirrhosis, Corneal neovascularization, Sp... |
ORPHA:404454 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Increased hepatic echogenicity, Hepatic steatosis, Splenomegaly, Prolonged neonatal jaundice, Pro... |
OMIM:619525 |