Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... |
ORPHA:90064 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Familial Cervical Artery Dissection |
|
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:36382 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Polyhydramnios |
OMIM:215550 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells, Death in childhood |
OMIM:256150 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Polyhydramnios, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:363705 |
Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capilla... |
ORPHA:1041 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... |
ORPHA:849 |
Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Intracranial ... |
ORPHA:49566 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... |
ORPHA:449285 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... |
ORPHA:465 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... |
ORPHA:2414 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... |
ORPHA:49827 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding |
ORPHA:98880 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Growth delay |
OMIM:614483 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Lymphedema, Intracranial hemorrhage, Pallor, Bruising susceptibility |
ORPHA:3226 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Short stature, Cutis laxa, Intracranial hemorr... |
OMIM:309400 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arterioveno... |
ORPHA:624 |
Fetal Gaucher Disease |
|
Death in infancy, Hydrops fetalis, Intracranial hemorrhage, Stillbirth, Neonatal death |
ORPHA:85212 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage, Pedal edema |
ORPHA:84090 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischem... |
OMIM:182410 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevate... |
OMIM:620300 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... |
ORPHA:99828 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy, Increased C-peptide level |
ORPHA:276556 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopathy, Cerebellar hemorrh... |
ORPHA:97339 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... |
OMIM:614201 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy, Increased C-peptide level |
ORPHA:276575 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG... |
ORPHA:284227 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy, Increased C-peptide level |
ORPHA:276580 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Edema, Pericardial effusion, Decreased circulating IgA level, De... |
ORPHA:90362 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Elevated circulating creatine kinase concentration, Intraventricular hemorrhage... |
OMIM:619055 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops feta... |
ORPHA:292 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricu... |
OMIM:620070 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Dry skin, Hypertension, Hypoalbum... |
OMIM:619487 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in infancy, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-li... |
OMIM:212065 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Edema, Intracranial hemorrhag... |
ORPHA:324636 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Increased C-peptide level |
ORPHA:324575 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Evans Syndrome |
|
Epistaxis, Syncope, Pallor, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hypoproteinemia, Tachycardia, Ventricular septal defect, Elevated circulat... |
ORPHA:26793 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Elevated circulating creatine kinase concentration, Polyhydramnios, Subdural he... |
OMIM:615368 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Abnormal myocardium morphology, Pedal edema, Growth delay, Ascites, Increas... |
ORPHA:77259 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Hypophosphatasia, Infantile |
|
Death in infancy, Polyhydramnios, Intracranial hemorrhage, Stillbirth, Disproportionate short-lim... |
OMIM:241500 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Abnorma... |
OMIM:300845 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... |
ORPHA:3099 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... |
ORPHA:464329 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... |
OMIM:235510 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Pe... |
ORPHA:199241 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated creatine kinase after exercise, Sudden cardiac death, Congestive heart failure, Cerebell... |
ORPHA:99901 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor |
ORPHA:517 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferritin concentration, En... |
OMIM:619313 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... |
ORPHA:36412 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... |
ORPHA:90308 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyhydramnios, Pericardial effusion, Decreased circulating antibody level, Hem... |
OMIM:618183 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Monoclonal i... |
ORPHA:33226 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induce... |
OMIM:155100 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... |
OMIM:617397 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Hypertension, Periph... |
ORPHA:79126 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration... |
OMIM:618886 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Meningocele |
ORPHA:2481 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... |
ORPHA:90307 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
American Trypanosomiasis |
|
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time, Skin ulcer, Spinal dysraphism |
ORPHA:1114 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Subdural hemorrhage, Polyhydramnios |
OMIM:618291 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
Lymphoproliferative Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Increased circulatin... |
OMIM:613011 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Abnormal vascul... |
ORPHA:781 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Leishmaniasis |
|
Abnormal bleeding, Skin ulcer, Hypoalbuminemia, Pallor, Increased circulating antibody level |
ORPHA:507 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage, Increased circulating IgE level, Growth delay, Incr... |
OMIM:243700 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension, Gro... |
OMIM:614424 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca... |
OMIM:618280 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Raynaud phenomenon, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:93552 |
Aspergillosis |
|
Intracranial hemorrhage, Pleural effusion, Increased circulating IgE level, Stroke |
ORPHA:1163 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Short stature, Dehydration |
OMIM:606054 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Epistaxis, Edema, Pericardial effusion, Increased circulating ferritin concent... |
ORPHA:167 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Poems Syndrome |
|
Edema, Pericardial effusion, Increased circulating antibody level, Pulmonary arterial hypertensio... |
ORPHA:2905 |
Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Elevated circulating creatine kinase concentration, Epistaxis, ... |
OMIM:185070 |
Tarp Syndrome |
|
Atrial septal defect, Subdural hemorrhage, Neonatal death, Intrauterine growth retardation, Tetra... |
OMIM:311900 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Decreased circul... |
ORPHA:231625 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Abnormal circulating protein concentration, Anemic pallor, Abnormal circulatin... |
ORPHA:86839 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Gingival bleeding |
ORPHA:98870 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... |
ORPHA:244242 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... |
ORPHA:77261 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis |
ORPHA:638 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Increased circulating interleukin 6 concentration, Epistaxis, Hematemesis, Ca... |
ORPHA:340 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Redundant skin, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral v... |
ORPHA:536532 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:187900 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Hematemesis, Pericardial effusion, Increased circulating ferritin concentration, Vasculiti... |
OMIM:615846 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Congestive heart failure, Pallor |
ORPHA:75564 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Increased circulating interleukin 6 concentration, Edema, Elevate... |
ORPHA:90051 |
Primary Myelofibrosis |
|
Abnormal bleeding, Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Alg9-Cdg |
|
Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Pericardial effusion, Wide anteri... |
ORPHA:79328 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Mirage Syndrome |
|
Short stature, Patent ductus arteriosus, Intracranial hemorrhage, Intrauterine growth retardation... |
OMIM:617053 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Increased nuchal translucency, Fetal intraventricular hemorrhage, Short stature, Oligohydramnios |
OMIM:618480 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage, Dehydration |
OMIM:251000 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Chylothorax, Death in childhood |
OMIM:620278 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Mildly elevated creatine kinase |
ORPHA:536516 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Abeta Amyloidosis, Dutch Type |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Short stature, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arteriovenou... |
ORPHA:109 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... |
OMIM:609053 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Increased circulating ferritin concentration, Pallor, Delayed puberty |
OMIM:600462 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemic pallor, Edema, Growth delay, Hematochezia |
ORPHA:329971 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae |
OMIM:314050 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Prolonged prothrombin time, Pallor, H... |
ORPHA:20 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor, Reduced haptoglobin level, Nonimmune hydrops fetalis |
OMIM:266200 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Arteriovenous malformation |
ORPHA:1059 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Acys Amyloidosis |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Increased circulating ferritin concentration, Pallor |
OMIM:615234 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardi... |
OMIM:608836 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, ... |
ORPHA:2136 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morpho... |
ORPHA:79284 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Edema, Polyhydramnios, Cardiomegaly, Abnormal retinal art... |
ORPHA:51608 |
Beta-Ketothiolase Deficiency |
|
Edema, Dehydration, Hypertension, Pallor, Hypotension |
ORPHA:134 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Delayed puberty, Low-to-normal b... |
ORPHA:358 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:608404 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... |
ORPHA:231226 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Elevated circulating alpha-fetoprotein concentration,... |
ORPHA:420741 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Patent ductus ar... |
ORPHA:1272 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Coarcta... |
OMIM:139210 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Br... |
ORPHA:182050 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Death in childhood |
OMIM:246450 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... |
ORPHA:79282 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Lack of skin elasticity, Caro... |
ORPHA:740 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormal cerebral vascular morphology, Transient ischemic attack, Myocar... |
ORPHA:3318 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Short stature, Decreased circulating renin level |
ORPHA:90795 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Hereditary Spherocytosis |
|
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer |
ORPHA:231222 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Heart murmur, Intracranial he... |
ORPHA:163979 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature, Subdural hemorrhage, Art... |
ORPHA:536545 |
Aregenerative Anemia |
|
Abnormal bleeding, Abnormality of interleukin secretion, Bruising susceptibility, Pallor |
ORPHA:101096 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... |
ORPHA:231214 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lympha... |
ORPHA:538 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Pallor, Short stature, Elevated circulating creatine kinase concentration |
OMIM:617675 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... |
ORPHA:892 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Pallor |
ORPHA:35858 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Bruising susceptibility, Impaired platelet aggregation, Epistaxis |
OMIM:601399 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Short stature |
OMIM:616430 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation of the vent... |
ORPHA:2177 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Edema, Myocarditis, Abnormality of interferon ... |
ORPHA:544482 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Coarctati... |
OMIM:105650 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Gingival bleeding, Ecchymosis, ... |
OMIM:203300 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating antibody level, Decreased circulating total IgM, Pallor, Decreased circulat... |
ORPHA:331206 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:614074 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Pallor, Hypotension |
ORPHA:98849 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage, Short stature |
OMIM:619714 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Increased circulating ferritin concentration, Pallor |
ORPHA:300298 |
Plummer-Vinson Syndrome |
|
Decreased circulating ferritin concentration, Pallor |
ORPHA:54028 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aorti... |
ORPHA:90324 |
Senior-Loken Syndrome 8 |
|
Pallor, Vascular dilatation |
OMIM:616307 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... |
ORPHA:247245 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myocarditis, Xerostomia, Join... |
ORPHA:809 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, In... |
OMIM:619472 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Short stature, Retinal hemorrhage |
OMIM:308300 |
Prolactinoma |
|
Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Striae distensae |
ORPHA:199244 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Increased circulating an... |
OMIM:181000 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Abnormal endocardium morphology, Short stature, Rhizomelia, Cerebral hemorr... |
ORPHA:666 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Hereditary Folate Malabsorption |
|
Pallor, Decreased circulating antibody level |
ORPHA:90045 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Polyhydramnios |
OMIM:613603 |
Arachnoid Cyst |
|
Encephalocele, Subarachnoid hemorrhage |
ORPHA:2356 |
Medulloblastoma |
|
Cerebellar hemorrhage |
ORPHA:616 |
Fumarase Deficiency |
|
Ascites, Perimembranous ventricular septal defect, Pallor, Polyhydramnios |
OMIM:606812 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Growth delay, Pallor, Pulmonary a... |
ORPHA:667 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature |
OMIM:616507 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Anasarca, Prolonged QT interval, Stroke-like episode |
ORPHA:86309 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Anemic pallor, Short stature, Intrauterine growth retardation, Bruisin... |
OMIM:227645 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood |
OMIM:557000 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:600901 |
Degcags Syndrome |
|
Tachycardia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Persistent left... |
OMIM:619488 |
Esophageal Atresia |
|
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Growth delay, Pallor, Tetralogy ... |
ORPHA:1199 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased circulating ferritin concentration, Pallor |
OMIM:194380 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Severe short stature... |
ORPHA:90349 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:227650 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... |
ORPHA:363958 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Pallor |
OMIM:300908 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnor... |
ORPHA:124 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Epistaxis, Increased circulating IgA level, Hematemesis, Reduced natural... |
OMIM:301000 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Bruising susce... |
OMIM:227646 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Polyhydramnios, Intracranial hemorrhage, Growth delay, Intraute... |
OMIM:613406 |
Meningioma |
|
Syncope, Cerebral hemorrhage |
ORPHA:2495 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Joint ... |
ORPHA:287 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Reduced thyroxin-binding globuli... |
ORPHA:79318 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentration, Cerebral he... |
OMIM:175780 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |