Internal Carotid Absence |
|
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage |
ORPHA:981 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm |
OMIM:618734 |
Factor Vii Deficiency |
|
Menorrhagia, Joint hemorrhage, Abnormal bleeding, Intramuscular hematoma, Intracranial hemorrhage... |
OMIM:227500 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
Congenital Factor Ii Deficiency |
|
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... |
ORPHA:325 |
Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... |
ORPHA:326 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia, Stroke, Cerebral cavernous malformation |
OMIM:603284 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Cerebral hemorrhage, Intracranial hemorrhage, Stroke |
OMIM:105150 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Oral cavity bleeding, Intramuscular hematoma, Joint hemorrhage, Blee... |
ORPHA:98878 |
Abetal34V Amyloidosis |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... |
ORPHA:79 |
Factor Xiii, A Subunit, Deficiency Of |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Ecc... |
OMIM:613225 |
Familial Cervical Artery Dissection |
|
Stroke, Transient ischemic attack, Dilatation of the cerebral artery, Hypertension, Cerebral isch... |
ORPHA:36382 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding after dental extraction,... |
ORPHA:169805 |
Severe Hemophilia A |
|
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... |
ORPHA:169802 |
Factor X Deficiency |
|
Menorrhagia, Gingival bleeding, Joint hemorrhage, Intramuscular hematoma, Prolonged prothrombin t... |
OMIM:227600 |
Congenital Factor Xiii Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, Abnormal umbili... |
ORPHA:331 |
Hemophilia B |
|
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... |
ORPHA:98879 |
Congenital Factor X Deficiency |
|
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... |
ORPHA:328 |
+173470 integrin, beta-3 |
|
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... |
OMIM:173470 |
Glanzmann Thrombasthenia 1 |
|
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... |
OMIM:273800 |
Cerebral Cavernous Malformations 3 |
|
Cerebral hemorrhage, Cerebral cavernous malformation |
OMIM:603285 |
Congenital Factor Vii Deficiency |
|
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... |
ORPHA:327 |
Abeta Amyloidosis, Italian Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:324713 |
Immune Thrombocytopenia |
|
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Cerebral hemo... |
ORPHA:3002 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral edema, Vasospasm, Cerebral hemorrhage, Subarachnoid hemorrhage, Transient ischemic attac... |
ORPHA:284388 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Persistent bleeding after trauma, Epistaxis, Myocardial fibrosis, Gastrointestinal hemorrhage, Su... |
ORPHA:465 |
Abeta Amyloidosis, Iowa Type |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Pulmonary embolism, Purpura |
OMIM:614514 |
Combined Deficiency Of Factor V And Factor Viii |
|
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... |
ORPHA:35909 |
Snakebite Envenomation |
|
Rhabdomyolysis, Ecchymosis, Angioedema, Stroke, Muscle fiber necrosis, Cardiogenic shock, Gingiva... |
ORPHA:449285 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Subarachnoid hemorrhage, Melena, Abn... |
ORPHA:853 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... |
OMIM:601493 |
Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... |
OMIM:613424 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Intracranial hemorrhage, Transient ischemic attack, Hyperte... |
ORPHA:231160 |
Sneddon Syndrome |
|
Stroke, Hypertension, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Ischemic stroke |
OMIM:182410 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction, Arrhy... |
OMIM:615373 |
Familial Afibrinogenemia |
|
Gingival bleeding, Cerebral hemorrhage, Joint swelling, Abnormal bleeding, Epistaxis |
ORPHA:98880 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... |
OMIM:612158 |
Cerebral Amyloid Angiopathy, App-Related |
|
Stroke, Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... |
OMIM:605714 |
Acquired Von Willebrand Syndrome |
|
Persistent bleeding after trauma, Bruising susceptibility, Aortic valve stenosis, Gastrointestina... |
ORPHA:99147 |
Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Pedal edema, Hypertension |
ORPHA:84090 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Transient ischemic attack, Cerebral ischemia, Hypertension, Lacunar stroke, Cerebral hemo... |
ORPHA:136 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Stroke, Ascites, Hypert... |
OMIM:115197 |
Fetal Gaucher Disease |
|
Flexion contracture, Hydrops fetalis, Arthrogryposis multiplex congenita, Neonatal death, Intracr... |
ORPHA:85212 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Abnormal left ventricle morphology, Cerebral hemorrh... |
OMIM:300845 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemorrhage, Epist... |
ORPHA:251274 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Prolonged prothrombin time, Shock, Internal hemorrhage |
ORPHA:49566 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... |
OMIM:601494 |
Methanol Poisoning |
|
Inflammatory arteriopathy, Permanent atrial fibrillation, Myocardial infarction, Hypertension, Ce... |
ORPHA:31825 |
Primary Angiitis Of The Central Nervous System |
|
Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis, Stroke |
ORPHA:140989 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Hypertension, Cerebral hemorrhage, Ischemic stroke |
ORPHA:280679 |
Dengue Fever |
|
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Hypotension, ... |
ORPHA:99828 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... |
ORPHA:90065 |
Polycythemia Vera |
|
Cerebral ischemia, Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Hyper... |
ORPHA:464321 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Hypertension |
OMIM:133100 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Edema, Intracranial hemorrhage, Arrhythmia |
ORPHA:624 |
Wyburn-Mason Syndrome |
|
Gingival bleeding, Cerebral hemorrhage, Subarachnoid hemorrhage, Abnormal cerebral vascular morph... |
ORPHA:53719 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Atrial Standstill |
|
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... |
ORPHA:1344 |
Vascular Hyalinosis |
|
Hematochezia, Subarachnoid hemorrhage |
OMIM:277175 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Autoerythrocyte Sensitization Syndrome |
|
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Oral cavity bleeding, Menorrhag... |
ORPHA:324636 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Congestive heart failure, Atria... |
ORPHA:90308 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Bruising susceptibility, Left ventricular hypertrophy, Subcuta... |
ORPHA:335 |
Extracranial Carotid Artery Aneurysm |
|
Total anomalous pulmonary venous return, Stroke, Arteritis, Upper limb muscle weakness, Vasculiti... |
ORPHA:494424 |
Tempi Syndrome |
|
Telangiectasia, Transudative pleural effusion, Intracranial hemorrhage, Ascites |
ORPHA:284227 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Stroke, Cerebral hemorrhage |
OMIM:263400 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Second degree atrioventricular block, Pulmonary arterial hypertension, Hypertension, Ventricular ... |
ORPHA:369929 |
Dural Sinus Malformation |
|
Cerebral edema, Stroke, Cerebellar hemorrhage, Subarachnoid hemorrhage, Subdural hemorrhage, Cere... |
ORPHA:97339 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... |
OMIM:171420 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Cerebral edema, Congestive heart failure, Cerebellar hemorrhage, Hypertro... |
ORPHA:99901 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Mucosal telangiectasiae, Gastrointestinal hemorrhage, Congestive heart failu... |
ORPHA:774 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Decreased muscle mass |
OMIM:616507 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... |
ORPHA:94080 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... |
ORPHA:300751 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Bruising susceptibility, Intracranial hemorrhage, Prolonged bleeding time |
ORPHA:3226 |
Acys Amyloidosis |
|
Cerebral hemorrhage, Stroke |
ORPHA:100008 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Retinal hemorrhage, Peau d'orange, Cerebral hemorrhage, Angina pecto... |
OMIM:177850 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Patent ductus arteriosus, Bradycardia, Pleural effusion, Secundum atrial septal defect... |
OMIM:617397 |
Abeta Amyloidosis, Dutch Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:100006 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Dehydration, Cardiomyopathy |
OMIM:251000 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis |
ORPHA:231625 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... |
OMIM:115200 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Hypertension |
OMIM:618886 |
Hypophosphatasia, Infantile |
|
Polyhydramnios, Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Limb hypertonia |
OMIM:606054 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... |
OMIM:163800 |
Kaposiform Lymphangiomatosis |
|
Subconjunctival hemorrhage, Bruising susceptibility, Ecchymosis, Pleural effusion, Epidural hemor... |
ORPHA:464329 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Hypovolemia, Bruising susceptibility, Aortic regurgitation, Abnormal left ventricular function, P... |
ORPHA:91387 |
Aspergillosis |
|
Intracranial hemorrhage, Pleural effusion, Stroke |
ORPHA:1163 |
Cocaine Intoxication |
|
Hypovolemia, Rhabdomyolysis, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Pul... |
ORPHA:90068 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage |
ORPHA:2481 |
Crimean-Congo Hemorrhagic Fever |
|
Subconjunctival hemorrhage, Bundle branch block, Subdural hemorrhage, Hypertension, Hematemesis, ... |
ORPHA:99827 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
High-output congestive heart failure, Cerebral arteriovenous malformation, Spontaneous, recurrent... |
OMIM:610655 |
Wiskott-Aldrich Syndrome |
|
Hematochezia, Bruising susceptibility, Petechiae, Recurrent intrapulmonary hemorrhage, Arrhythmia... |
ORPHA:906 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
Hemorrhagic Fever-Renal Syndrome |
|
Subconjunctival hemorrhage, Petechiae, Ecchymosis, Shock, Hypotension, Pleural effusion, Capillar... |
ORPHA:340 |
Pheochromocytoma |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... |
OMIM:171300 |
Hellp Syndrome |
|
Hypotension, Pleural effusion, Internal hemorrhage, Cerebral hemorrhage, Prolonged prothrombin ti... |
ORPHA:244242 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... |
ORPHA:276621 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hematochezia, Nail bed telangiectasia, Fingerpad telangiectases, Cerebral arteriovenous malformat... |
OMIM:600376 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Congestive heart failure, Mitral valve calcification, Hypertension, Ventri... |
ORPHA:363618 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Intracranial hemorrhage, Lymphedema, Myopathy, Telangiectasia, Angina pe... |
ORPHA:109 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Gastrointestinal hemorrhage, Nail bed telangiectasia, Cerebral arteriovenous malformation, Telang... |
OMIM:187300 |
Hydrops Fetalis |
|
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... |
ORPHA:1041 |
Mirage Syndrome |
|
Petechiae, Intracranial hemorrhage, Patent ductus arteriosus |
OMIM:617053 |
Pericardial Effusion, Chronic |
|
Constrictive pericarditis, Pericardial effusion |
OMIM:260900 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Reduced ej... |
OMIM:613426 |
Naxos Disease |
|
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... |
OMIM:601214 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Pulmonary embolism, Hypertension, Cerebral ... |
ORPHA:394 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Arrhythmia, Increased muscle lipid content, Knee flexion contracture, Ant... |
OMIM:608836 |
Idiopathic Hypereosinophilic Syndrome |
|
Vasculitis in the skin, Dilated cardiomyopathy, Angioedema, Congestive heart failure, Skeletal mu... |
ORPHA:3260 |
Nelson Syndrome |
|
Lower limb muscle weakness, Intracranial hemorrhage, Hypertension, Quadriceps muscle atrophy |
ORPHA:199244 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Subdural hemorrhage |
OMIM:619714 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... |
ORPHA:29072 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Abnormal heart morphology |
ORPHA:79284 |
Congenital Tricuspid Valve Dysplasia |
|
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Systolic heart murmur, Pat... |
ORPHA:555874 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Heart murmur, Ventricular septal defect, Intracra... |
ORPHA:163979 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Skeletal muscle atrophy, Dextrocardia, Myopathy, Subdural hemorrhage, Bi... |
ORPHA:536545 |
Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Stroke, Hydrops fetalis, Pulmonary embolism, Pulmonary arterial hypertens... |
ORPHA:79282 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Superficial Siderosis |
|
Persistent bleeding after trauma, Lower limb muscle weakness, Abnormal bleeding, Subarachnoid hem... |
ORPHA:247245 |
Menkes Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Spontaneous hematomas, Intracranial hemorrh... |
ORPHA:565 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Neonatal death, Prolonged prothrombin time |
OMIM:619055 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pleural effusion, Elevated pulmonary artery pressure, Pedal edema, H... |
ORPHA:199241 |
Parkes Weber Syndrome |
|
High-output congestive heart failure, Lower limb muscle weakness, Cerebral arteriovenous malforma... |
ORPHA:90307 |
Hutchinson-Gilford Progeria Syndrome |
|
Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction, Aortic valve steno... |
ORPHA:740 |
Lymphatic Malformation 7 |
|
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... |
OMIM:617300 |
Medulloblastoma |
|
Cerebellar hemorrhage |
ORPHA:616 |
Arachnoid Cyst |
|
Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage |
ORPHA:2356 |
Cockayne Syndrome Type 3 |
|
Flexion contracture, Stroke, Retinal hemorrhage, Skeletal muscle atrophy, Increased blood pressur... |
ORPHA:90324 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Hydranencephaly |
|
Abnormal cerebral artery morphology, Dilatation of the ventricular cavity, Antenatal intracerebra... |
ORPHA:2177 |
Acute Liver Failure |
|
Cerebral edema, Bruising susceptibility, Gastrointestinal hemorrhage, Shock, Hypotension, Abnorma... |
ORPHA:90062 |
Dpagt1-Cdg |
|
Anasarca, Flexion contracture, Prolonged QT interval, Camptodactyly, Stroke-like episode, Intracr... |
ORPHA:86309 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Upper limb muscle weakness, Hypertension, Distal lower limb muscle weakn... |
ORPHA:139417 |
Visceral Steatosis, Congenital |
|
Neonatal death, Abnormal bleeding, Myocardial steatosis |
OMIM:228100 |
Meningioma |
|
Cerebral hemorrhage, Lower limb muscle weakness, Upper limb muscle weakness, Syncope, Facial palsy |
ORPHA:2495 |
Riddle Syndrome |
|
Intraventricular hemorrhage, Telangiectasia, Conjunctival telangiectasia |
ORPHA:420741 |
Heart Block, Congenital |
|
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... |
OMIM:234700 |
Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage |
ORPHA:221061 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Cardiomy... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Cardiomy... |
ORPHA:363958 |
Loeys-Dietz Syndrome 3 |
|
Bruising susceptibility, Patent ductus arteriosus, Atrial septal defect, Tortuous cerebral arteri... |
OMIM:613795 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Bruising susceptibility, Flexion contracture, Aortic regurgitati... |
ORPHA:666 |
Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Abnormal left ventricular function, Cerebral artery atherosclerosis, ... |
ORPHA:391665 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Anasarca, Hematochezia, Pleural effusion, Polyhydramnios, Ascites, Pericardial effusion |
OMIM:618183 |
Marburg Hemorrhagic Fever |
|
Subconjunctival hemorrhage, Bruising susceptibility, Petechiae, Hypovolemia, Shock, Hypotension, ... |
ORPHA:99826 |
Viss Syndrome |
|
Bruising susceptibility, Right ventricular dilatation, Contracture of the proximal interphalangea... |
OMIM:619472 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Corneal neovascularization, Facial paralysis, Ischemic stroke |
OMIM:175780 |
Yellow Fever |
|
Reduced ejection fraction, Shock, Capillary leak, Excessive bleeding after a venipuncture, Intern... |
ORPHA:99829 |
Hepatocellular Carcinoma |
|
Anasarca, Portal hypertension, Hypotension, Pedal edema, Budd-Chiari syndrome, Ascites, Internal ... |
ORPHA:88673 |
Pmm2-Cdg |
|
Anasarca, Multiple joint contractures, Hypertrophic cardiomyopathy, Lymphedema, Pericarditis, Ang... |
ORPHA:79318 |
Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Hypertension, Internal hemorrhage |
ORPHA:805 |
Vascular Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Abnormal heart valve morphology, Mitral valve prolapse, Telangiectasia o... |
ORPHA:286 |