| Prekallikrein Deficiency |
|
Prolonged partial thromboplastin time, Abnormal bleeding, Reduced circulating prekallikrein conce... |
OMIM:612423 |
| Factor V Deficiency |
|
Prolonged partial thromboplastin time, Reduced coagulation factor V activity, Abnormal bleeding, ... |
OMIM:227400 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time, Abnormal bleeding, Reduced prothrombin consumption |
OMIM:272650 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:314560 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Factor X Deficiency |
|
Prolonged partial thromboplastin time, Reduced factor X activity, Intracranial hemorrhage, Epista... |
OMIM:227600 |
| Prothrombin Deficiency, Congenital |
|
Prolonged partial thromboplastin time, Bruising susceptibility, Ecchymosis, Epistaxis, Gingival b... |
OMIM:613679 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Reduced factor VIII activity, Prolonged partial thromboplastin time, Reduced coagulation factor V... |
ORPHA:35909 |
| Congenital Factor Ii Deficiency |
|
Prolonged partial thromboplastin time, Post-partum hemorrhage, Abnormal umbilical stump bleeding,... |
ORPHA:325 |
| Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Abnormal ble... |
OMIM:619267 |
| Athrombia, Essential |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe... |
OMIM:209050 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... |
OMIM:615888 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Decreased serum thromboxane B2, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleedin... |
OMIM:614158 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Abnormal blee... |
OMIM:610842 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Prolonged partial thromboplastin time, Cerebral hemorrhage, Reduced factor IX activity, Reduced f... |
OMIM:277450 |
| Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
| Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
| Acquired Purpura Fulminans |
|
Macular purpura, Prolonged partial thromboplastin time, Intracranial hemorrhage, Internal hemorrh... |
ORPHA:49566 |
| Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Purpura, Int... |
OMIM:273800 |
| Glanzmann Thrombasthenia |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired collagen-related peptide-induced... |
ORPHA:849 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Impaired collagen-induced platelet aggregation, M... |
OMIM:614201 |
| Von Willebrand Disease, Type 3 |
|
Reduced factor VIII activity, Persistent bleeding after trauma, Reduced von Willebrand factor act... |
OMIM:277480 |
| Von Willebrand Disease, Type 1 |
|
Reduced factor VIII activity, Persistent bleeding after trauma, Mitral valve prolapse, Bruising s... |
OMIM:193400 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Purpura, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gingival... |
OMIM:231200 |
| Acquired Von Willebrand Syndrome |
|
Hypotension, Reduced factor VIII activity, Persistent bleeding after trauma, Subcutaneous hemorrh... |
ORPHA:99147 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:608404 |
| Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia, Prolonged prothrombin time, Cardiomyopathy |
OMIM:616483 |
| Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Left ventricular h... |
ORPHA:335 |
| Hemophilia B |
|
Prolonged partial thromboplastin time, Reduced factor IX activity, Spontaneous, recurrent epistax... |
ORPHA:98879 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Elevated coagulation factor V activity, Abnormality of coagulation, Reduced f... |
ORPHA:88618 |
| Relapsing Fever |
|
Hypotension, Increased total bilirubin, Hyperfibrinogenemia, Abnormal bleeding, Epistaxis, Prolon... |
ORPHA:91547 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Secundum atrial septal defect, Hyperbilirubinemia, Elevated circulating creat... |
OMIM:614300 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Prolonged partial thromboplastin time, Hyperbilirubinemia, Decreased serum bile acid concentratio... |
OMIM:214950 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, De... |
ORPHA:99901 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... |
OMIM:155100 |
| Afibrinogenemia, Congenital |
|
Death in infancy, Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Brui... |
OMIM:202400 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation |
OMIM:173420 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hyperammonemia, Prolonged prothrombin time, Conjugated hyperbilirubinemia, Elevated circulating a... |
OMIM:617049 |
| Gray Platelet Syndrome |
|
Reduced von Willebrand factor activity, Abnormal bleeding, Bruising susceptibility, Epistaxis, Im... |
OMIM:139090 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Prolonged prothrombin time, Ventricular septal defect |
OMIM:616559 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Prolonged partial thromboplastin time, Increased VLDL cholesterol conc... |
OMIM:267700 |
| Hermansky-Pudlak Syndrome 7 |
|
Post-partum hemorrhage, Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Menorr... |
OMIM:614076 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged partial thromboplastin time, Dilated cardiomyopathy, Congestive heart failure, Abnormal... |
ORPHA:367 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... |
OMIM:187900 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
| Monosomy 13Q34 |
|
Prolonged partial thromboplastin time, Abnormality of the coagulation cascade, Epistaxis, Prolong... |
ORPHA:96168 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... |
ORPHA:71212 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, P... |
ORPHA:64743 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:188025 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged partial thromboplastin time, Abnormality of the coagulation cascade, Abnormal serum bil... |
ORPHA:79303 |
| Familial Hypofibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage |
ORPHA:98881 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Prolonged prothrombin time, Hypoalbuminemia |
OMIM:613070 |
| Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Abnormality of coagulation |
ORPHA:1059 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Prolonged partial thromboplastin time, Ven... |
OMIM:614921 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Infantile Liver Failure Syndrome 3 |
|
Hyperammonemia, Prolonged prothrombin time |
OMIM:618641 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Prolong... |
OMIM:603553 |
| Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
| Slc35A1-Cdg |
|
Prolonged bleeding time, Pulmonary hemorrhage, Abnormal bleeding, Subcutaneous hemorrhage |
ORPHA:238459 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Hematochezia, Prolonged prothrombin time |
OMIM:613812 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Bruising susceptibility, Prolonged bleeding time, Epistaxis, Petechiae |
OMIM:314050 |
| Storage Pool Platelet Disease |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:185050 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating uracil concentration, Episodic ammonia intoxication, Hyperammonemia, Prolong... |
OMIM:311250 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Hyperalaninemia, Prolonged prothrombin time, Hypoalbuminemia |
OMIM:618329 |
| Klippel-Trénaunay Syndrome |
|
Pulmonary embolism, Hypercoagulability, Congestive heart failure, Internal hemorrhage, Atrial sep... |
ORPHA:90308 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Hypoalbuminemia, Prolonged prothrombin time, Elevated circulating cr... |
OMIM:619055 |
| Sialuria |
|
Prolonged partial thromboplastin time, Prolonged prothrombin time |
ORPHA:3166 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Hyperglycinemia, Abnormality of coagulation, Hypertrophic ... |
ORPHA:309854 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Prolonged partial thromboplastin time, Elevated circulating alpha-fetoprotein... |
OMIM:276700 |
| Alg12-Cdg |
|
Patent foramen ovale, Prolonged partial thromboplastin time, Reduced factor XI activity, Abnormal... |
ORPHA:79324 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Prolonged partial thromboplastin time, Reduced factor XI activity, Pericardial effusion, Reduced ... |
OMIM:212065 |
| Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Prolonged partial thromboplastin time, Elevated circulating creatine kinase concentr... |
ORPHA:99826 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Bruising susceptibility, Myocardial infarction, Menorrhagia, Pr... |
ORPHA:182050 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation, Bruising susceptibility |
OMIM:601399 |
| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Decreased level of tissue plasminogen activator, Hemoperitoneum, Subcutaneous hemorrhage, Post-pa... |
ORPHA:465 |
| Yellow Fever |
|
Reduced coagulation factor V activity, Hypofibrinogenemia, Reduced left ventricular ejection frac... |
ORPHA:99829 |
| Hellp Syndrome |
|
Hypotension, Cerebral hemorrhage, Internal hemorrhage, Prolonged prothrombin time, Hypofibrinogen... |
ORPHA:244242 |
| Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal bleeding, Congestive heart ... |
ORPHA:14 |
| Hermansky-Pudlak Syndrome 6 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:614075 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Congestive heart failure, Prolonged prothrombin time |
OMIM:616271 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Hyperuricemia, Cardiac arrest, Dilated cardiomyopathy, Hyperammonemia, Prolonged pro... |
ORPHA:20 |
| Celiac Disease, Susceptibility To, 1 |
|
Abnormality of the coagulation cascade, Prolonged partial thromboplastin time, Hypocalcemia, Prol... |
OMIM:212750 |
| Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagia, Prolo... |
OMIM:614074 |
| Acute Liver Failure |
|
Hypotension, Reduced coagulation factor V activity, Reduced factor VII activity, Abnormality of t... |
ORPHA:90062 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Shwachman-Diamond Syndrome 2 |
|
Prolonged partial thromboplastin time, Prolonged prothrombin time |
OMIM:617941 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Prolonged partial thromboplastin time, Reduced coagulation factor V activity, Ventricular septal ... |
OMIM:619525 |
| Kasabach-Merritt Syndrome |
|
Hypofibrinogenemia, Purpura, Prolonged prothrombin time, Petechiae |
ORPHA:2330 |
| Essential Thrombocythemia |
|
Transient ischemic attack, Myocardial infarction, Prolonged bleeding time |
ORPHA:3318 |
| Isolated Biliary Atresia |
|
Prolonged prothrombin time, Conjugated hyperbilirubinemia |
ORPHA:30391 |
| Hermansky-Pudlak Syndrome 1 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Prolonged bleeding time, Hemat... |
OMIM:203300 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag... |
OMIM:605735 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hypercoagulability, Intracranial hemorrhage, Bruising susceptibility |
ORPHA:3226 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Decreased LDL cholesterol concentration, Reduced factor XI activity, Corneal neovascularization, ... |
ORPHA:404454 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... |
OMIM:227500 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Congestive heart failure, Prolonged prothrombin time, Portal hypertension, Pal... |
ORPHA:171 |
| Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
| Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Purpura, Pericarditis, Gastrointestinal hemorrhage, Prolonged bl... |
ORPHA:809 |
| Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Petechiae, Abnormal platelet function, Purpura, Intracranial hemorrhage, Br... |
ORPHA:906 |
| Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
| Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
| Rhabdoid Tumor |
|
Hypercalcemia, Hypertension, Internal hemorrhage |
ORPHA:69077 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation |
OMIM:608233 |
| Wiskott-Aldrich Syndrome |
|
Small vessel vasculitis, Petechiae, Large vessel vasculitis, Purpura, Epistaxis, Hematemesis, Gin... |
OMIM:301000 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Prolonged partial thromboplastin time, Hemoperitoneum, Pericardial effusion, Elevate... |
ORPHA:99827 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Hyperphosphatemia, Petechiae, Hyperkalemia, Intracranial hemorrhage, Internal hemorr... |
ORPHA:340 |
| Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Mitral valve prolapse, Bruising susceptibility, Ecchymosis, Arterial rup... |
ORPHA:287 |
| Hepatocellular Carcinoma |
|
Hypotension, Hypokalemia, Hyperbilirubinemia, Internal hemorrhage, Hypercalcemia, Hyponatremia, P... |
ORPHA:88673 |
| Superficial Siderosis |
|
Subarachnoid hemorrhage, Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma |
ORPHA:247245 |
| Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage |
ORPHA:805 |
| Vascular Ehlers-Danlos Syndrome |
|
Transient ischemic attack, Abnormal bleeding, Hypertension, Internal hemorrhage, Bruising suscept... |
ORPHA:286 |
