Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation |
OMIM:116860 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Abnormal heart morphology, Abnormal placenta mor... |
ORPHA:439167 |
Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Delayed onset bleeding, Ecchymosis, Myeloid leukemia, Joint hemorrhage, A... |
ORPHA:331 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Abno... |
ORPHA:85212 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
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 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Umbilical cord hematoma, Epidural hemorrhage, Premature birth, Epist... |
ORPHA:465 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... |
ORPHA:774 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... |
ORPHA:3226 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Premature birth, Cardiomegaly, Thrombocytopenia, Jau... |
ORPHA:858 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta |
ORPHA:73272 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leuk... |
ORPHA:99828 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Abnormality of the umbi... |
ORPHA:327 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Cardiomyopathy, Neutropenia,... |
OMIM:606054 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Premature birth, Abnormal hemoglobin, Anemia of inadequate produ... |
ORPHA:2133 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... |
ORPHA:49566 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Intrauterine growth retardation, Small placenta, Oligohydramnios |
ORPHA:397590 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Abnormal ery... |
ORPHA:766 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia |
OMIM:182410 |
Pseudo-Torch Syndrome 3 |
|
Premature birth, Cerebral hemorrhage, Cardiomegaly, Leukocytosis, Hypertension, Congenital thromb... |
OMIM:618886 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... |
ORPHA:97339 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... |
ORPHA:615 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Thrombocytosis, Increased mean pla... |
OMIM:222470 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ... |
OMIM:620300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:231393 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia,... |
ORPHA:2123 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Elevated hepatic transaminase, Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged proth... |
OMIM:277450 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Polyhydramnios, Large placenta, Abnormal heart morphology, Umbilical h... |
ORPHA:254534 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Pancreatitis, Throm... |
OMIM:251000 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Hepatosplenomegaly,... |
ORPHA:101028 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Prolonged QT interval, Aplastic a... |
ORPHA:398124 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Pate... |
OMIM:606003 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial ef... |
ORPHA:464329 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... |
ORPHA:163596 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Hypophosphatasia, Infantile |
|
Polyhydramnios, Low alkaline phosphatase, Intracranial hemorrhage, Stillbirth, Anemia |
OMIM:241500 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... |
OMIM:175050 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertensio... |
ORPHA:64743 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated l... |
OMIM:269920 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Mirage Syndrome |
|
Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, Anemia, Intraute... |
OMIM:617053 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mac... |
ORPHA:3202 |
Isovaleric Acidemia |
|
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia |
OMIM:243500 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Raynaud phenomenon, Leuko... |
ORPHA:3260 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... |
OMIM:300845 |
Aspergillosis |
|
Eosinophilia, Hepatitis, Intracranial hemorrhage, Stroke, Neutropenia |
ORPHA:1163 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... |
ORPHA:99827 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port... |
ORPHA:824 |
Restrictive Dermopathy |
|
Decreased fetal movement, Premature birth, Dextrocardia, Premature delivery because of cervical i... |
ORPHA:1662 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... |
ORPHA:324636 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Ventricular septal defect, Spina bifida, Polyhydramnios, Fetal akinesia... |
OMIM:256520 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Reduced number of i... |
ORPHA:79284 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Tarp Syndrome |
|
Subdural hemorrhage, Tetralogy of Fallot, Premature rupture of membranes, Neonatal death, Atrial ... |
OMIM:311900 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Tempi Syndrome |
|
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia |
ORPHA:284227 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto... |
OMIM:612840 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Elevated jugular venous pressure, Left at... |
ORPHA:57777 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Pol... |
ORPHA:292 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... |
OMIM:235200 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal he... |
ORPHA:1708 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Caesarian section, Epistaxis |
ORPHA:403 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Decreased fetal movement, Spina bifida occulta, Subdural hemorrhage, Polyhydramnios |
OMIM:618291 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops... |
OMIM:256550 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... |
OMIM:253250 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Int... |
ORPHA:394 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leuk... |
ORPHA:340 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... |
ORPHA:98870 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal de... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterin... |
OMIM:618835 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation |
OMIM:309400 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... |
ORPHA:555874 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... |
ORPHA:79282 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Abnormal intrahepa... |
ORPHA:363618 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Heart ... |
ORPHA:163979 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Increased circulating lactate dehydrogenase concentration, Reticul... |
ORPHA:71275 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... |
OMIM:215140 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Abnormal lactate dehydrogenase level, ... |
ORPHA:42 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly |
OMIM:301081 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Polyhydramnios, Atria... |
ORPHA:363705 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growth retardation, Anemia |
OMIM:618838 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased fetal movement, Subdural hemorrhage, Retinal hemorrhage, Polyhydramnios |
OMIM:615368 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, La... |
OMIM:249000 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left v... |
OMIM:617713 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... |
OMIM:243700 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... |
ORPHA:99931 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Premature birth |
ORPHA:447788 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... |
ORPHA:3405 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, R... |
OMIM:201475 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Premature birth, Polyhydramnios, Cardiomegaly, Large placenta, Splenomegaly, Abnorm... |
ORPHA:116 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Large placenta, Polyhydramnios, Intrauterine growth retardation |
ORPHA:254528 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Decreased fetal movement, Fet... |
ORPHA:86309 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Bradycardia, Intrauterine growth retardation, Hypertrophic ca... |
OMIM:614702 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jug... |
ORPHA:1677 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Kagami-Ogata Syndrome |
|
Hepatoblastoma, Large placenta, Premature birth, Polyhydramnios |
ORPHA:254519 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Increased nuchal translucency, Fetal intraventricular hemorrhage, Premature birth, Oligohydramnios |
OMIM:618480 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive hea... |
ORPHA:465508 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, H... |
ORPHA:90062 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Carotid artery stenosis, Splenomegaly, Thrombocytopenia, Gian... |
OMIM:210250 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen... |
OMIM:611881 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cardiomegaly, Elevated circu... |
ORPHA:308552 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhag... |
ORPHA:90324 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Decreased fetal movement, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemo... |
ORPHA:536545 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Coronary artery calcification, Myocardial infarction, Cardiomegaly, Cong... |
OMIM:614473 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transien... |
ORPHA:2929 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou... |
ORPHA:109 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... |
OMIM:275210 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Premature birth, Polyhydramnios, L... |
ORPHA:96334 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Decreased fetal movement, Subdural hemorrhage, Cerebral hemorrhage, Breech presentation |
OMIM:620278 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Medulloblastoma |
|
Elevated hepatic transaminase, Cerebellar hemorrhage |
ORPHA:616 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Oligohydramnios,... |
ORPHA:96191 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Myocardial infarction, Cardiomegaly, Carotid artery calcification,... |
OMIM:208000 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... |
OMIM:602782 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Single umbilical artery... |
OMIM:616897 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Cardiomegaly, Hepato... |
OMIM:268800 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Intrauterine growth retardation, Prolonged prothrombin time, Neonata... |
OMIM:619055 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa... |
OMIM:266500 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... |
OMIM:619472 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... |
OMIM:619991 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... |
ORPHA:980 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, T... |
ORPHA:365 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Heart block, Hepatic calcification, C... |
ORPHA:228308 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Reticulocytosis, Cardiomegaly, Ac... |
ORPHA:14 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Fetal akinesia sequence, Low alkaline phosphatase, Elevated circulati... |
OMIM:618143 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Cerebral hemorrhage, Mitral valve prolapse... |
ORPHA:666 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Mogs-Cdg |
|
Hepatomegaly, Polyhydramnios, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventri... |
ORPHA:79330 |
Arachnoid Cyst |
|
Encephalocele, Subarachnoid hemorrhage |
ORPHA:2356 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... |
OMIM:617022 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly |
OMIM:613320 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb... |
ORPHA:2177 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... |
ORPHA:247245 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Feta... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Feta... |
ORPHA:363958 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Polyhydramnios |
OMIM:613603 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage |
OMIM:616430 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, ... |
OMIM:230000 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Cardiomegaly, Myelopathy... |
OMIM:252500 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Intrauterine ... |
ORPHA:158687 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardio... |
OMIM:105210 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Polyhydramnios, Cardiomegaly, Fetal distress, Abnormal re... |
ORPHA:51608 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage |
OMIM:619714 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma... |
ORPHA:95430 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Atrioventricular block,... |
ORPHA:581 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arteriovenous malformation, M... |
OMIM:150230 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia |
ORPHA:420741 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Cardiomegaly, Raynaud phenomenon, Neonatal alloimmune thrombocytop... |
ORPHA:51 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... |
OMIM:175780 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Witteveen-Kolk Syndrome |
|
Intracranial hemorrhage, Branchial fistula, Polyhydramnios, Intrauterine growth retardation |
OMIM:613406 |
Meningioma |
|
Syncope, Cerebral hemorrhage |
ORPHA:2495 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... |
OMIM:245600 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Placental mesenchymal dysplas... |
OMIM:130650 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Intrauterine growth retardation, A... |
ORPHA:97297 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:904 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Microcytic anemia, Congestive heart fa... |
OMIM:256040 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Angina pectoris, Pericardial effusion, Abnormal live... |
ORPHA:79318 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Mucosal telangiectasiae, Cardiomegaly |
ORPHA:2463 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... |
ORPHA:3472 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Osteogenesis Imperfecta, Type Xxii |
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Intrauterine growth retardation |
OMIM:619795 |