| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm |
OMIM:618734 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Chronic fatigue, Dec... |
OMIM:234810 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke |
OMIM:603284 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
| Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
| Heparin-Induced Thrombocytopenia |
|
Cerebral ischemia, Myocardial infarction, Abnormal onset of bleeding, Stroke, Pulmonary embolism |
ORPHA:3325 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent sinopulmonary infections, Neoplasm, Cerebral vasculitis, Asthma, Subarachnoid hemorrhage |
OMIM:243700 |
| Congenital Factor V Deficiency |
|
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... |
ORPHA:326 |
| Tuberculosis |
|
Fatigue, Cough, Abnormal lung morphology |
ORPHA:3389 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... |
ORPHA:79 |
| Pontiac Fever |
|
Myalgia, Fatigue, Cough |
ORPHA:99748 |
| Congenital Factor Ii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... |
ORPHA:325 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Fatigue, Anomalous pulmo... |
ORPHA:99105 |
| +173470 integrin, beta-3 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... |
OMIM:173470 |
| Congenital Factor Xiii Deficiency |
|
Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Joint he... |
ORPHA:331 |
| Glanzmann Thrombasthenia 1 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... |
OMIM:273800 |
| Severe Hemophilia A |
|
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Subdural hemorrhage, Joint hemorrhage,... |
ORPHA:169802 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Syncope, Palpitations, Chest pain, Elevated jugular venous pressure, Pulmonary arterial hypertens... |
ORPHA:422 |
| Familial Cervical Artery Dissection |
|
Hypertension, Recurrent cerebral hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia... |
ORPHA:36382 |
| Abetal34V Amyloidosis |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral hemorrhage, Cerebral cavernous malformation |
OMIM:603285 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Cerebral hemorrhage, Stroke, Intracranial hemorrhage |
OMIM:105150 |
| Moderate Hemophilia A |
|
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Subdural hemorrhage, Joint hemor... |
ORPHA:169805 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Intracranial hemorrhage, Polymicrogyria |
OMIM:614483 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Purpura, Pulmonary embolism |
OMIM:614514 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
| Snakebite Envenomation |
|
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Pain, Tachycardia, Cerebral is... |
ORPHA:449285 |
| Hemophilia A |
|
Intracranial hemorrhage, Joint hemorrhage, Spontaneous hematomas, Arthralgia, Bleeding with minor... |
ORPHA:98878 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:327 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Dilatation of the cerebral artery, Vasospasm, Abnormal ... |
ORPHA:284388 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... |
OMIM:613225 |
| Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding |
OMIM:227500 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Abdominal pain, Fatigue, Congestive heart failure |
OMIM:616794 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Aspiration pneumonia |
OMIM:619477 |
| Polycythemia Vera |
|
Hypertension, Myelodysplasia, Gingival bleeding, Acute leukemia, Budd-Chiari syndrome, Respirator... |
ORPHA:729 |
| Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ple... |
ORPHA:1163 |
| Tempi Syndrome |
|
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of the pulmonary vasculature, Hem... |
ORPHA:284227 |
| Macrophagic Myofasciitis |
|
Arthralgia, Fatigue, Myalgia |
ORPHA:592 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Neoplasm, Gangrene, ... |
ORPHA:49566 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Immune Thrombocytopenia |
|
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... |
ORPHA:3002 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
ORPHA:35909 |
| Acquired Von Willebrand Syndrome |
|
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... |
ORPHA:99147 |
| Congenital Factor X Deficiency |
|
Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Prolonged prothrombin time, Joint hemorrh... |
ORPHA:328 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Hemangioma, Fatigue, Stroke, Hypotension |
OMIM:263400 |
| Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Myocardial infarction, Exertional dyspnea, Fatigue |
OMIM:133100 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Paroxysmal dyspnea, Crackles, Exe... |
ORPHA:563 |
| Mantle Cell Lymphoma |
|
Fatigue, B-cell lymphoma |
ORPHA:52416 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
| Hemophilia B |
|
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... |
ORPHA:98879 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Acute leukemia, Myeloproliferative disorder, Fatigue, Prolonged bleeding... |
ORPHA:3226 |
| Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pericarditis, Respiratory insufficiency, Exe... |
ORPHA:732 |
| Abeta Amyloidosis, Italian Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:324713 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Palpitations, Chest pain, Paraganglioma, Episodic abdominal pain, Fatigue, C... |
ORPHA:94080 |
| Hodgkin Lymphoma |
|
Neoplasm, Lymphoma, Cough, Fatigue, Dyspnea, Bone pain, Chest pain |
ORPHA:98293 |
| Abeta Amyloidosis, Iowa Type |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Fatigue, Respiratory insufficiency |
OMIM:616323 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Stress urinary incontinence, Cerebral... |
ORPHA:136 |
| Pulmonary Hypertension, Primary, Autosomal Recessive |
|
Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional dyspnea, Fatigue,... |
OMIM:265400 |
| Primary Familial Polycythemia |
|
Epistaxis, Cough, Arthralgia, Exertional dyspnea, Fatigue, Abnormal bleeding, Dyspnea, Abdominal ... |
ORPHA:90042 |
| Refractory Anemia |
|
Abnormal cardiac ventricular function, Myelodysplasia, Fatigue, Single lineage myelodysplasia, Ab... |
ORPHA:98826 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... |
ORPHA:853 |
| Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Permanent atrial fibrillation, Myocar... |
ORPHA:31825 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Arthralgia, Fatigue |
ORPHA:254704 |
| Factor X Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
OMIM:227600 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Respiratory insufficiency, Petechiae, Bradycardia, Patent ductus arteriosus,... |
OMIM:617397 |
| Typhoid |
|
Epistaxis, Cough, Myalgia, Arthralgia, Gastrointestinal hemorrhage, Fatigue, Cardiac arrest, Abno... |
ORPHA:99745 |
| Analbuminemia |
|
Fatigue, Recurrent lower respiratory tract infections, Hypotension, Patent ductus arteriosus |
OMIM:616000 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal pattern of respiration, Hypertensive crisis, ... |
ORPHA:3287 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... |
ORPHA:99103 |
| Primary Angiitis Of The Central Nervous System |
|
Constitutional symptom, Intracranial hemorrhage, Cerebral vasculitis, Stroke, Transient ischemic ... |
ORPHA:140989 |
| Acute Interstitial Pneumonia |
|
Crackles, Fatigue, Respiratory failure, Reticulonodular pattern on pulmonary HRCT, Hypertension, ... |
ORPHA:79126 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cerebral hemorrhage, Cavernous hemangioma, Visceral angiomatosis, Abnormal cerebral vascular morp... |
ORPHA:774 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Acute leukemia, Fatigue, Abnormal bleeding, Dyspnea, Bruising susceptibility |
ORPHA:231401 |
| Familial Cerebral Saccular Aneurysm |
|
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... |
ORPHA:231160 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... |
ORPHA:465 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Myalgia, Arthralgia, Gastrointestinal hemorrhage, Fatigue, Stroke, Spina bifida occulta, Arrhythm... |
ORPHA:230839 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Multiple lipomas, Myalgia, Fat... |
ORPHA:1349 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Constitutional symptom, Pericarditis, Multiple myeloma, Rhinorrhea, Cough, Myalgia, ... |
ORPHA:188 |
| Dengue Fever |
|
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Arthralgia, Gastrointestinal hemorr... |
ORPHA:99828 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
| Nipah Virus Disease |
|
Cough, Myalgia, Respiratory distress, Fatigue, Recurrent pharyngitis, Hypotension |
ORPHA:99825 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Pneumonia, Palpit... |
ORPHA:99104 |
| Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage |
ORPHA:820 |
| Schnitzler Syndrome |
|
Lymphoma, Myalgia, Arthralgia, Fatigue, Vasculitis, Bone pain |
ORPHA:37748 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
| Spinal Arteriovenous Metameric Syndrome |
|
Visceral angiomatosis, Lymphangioma, Arthralgia, Gangrene, Fatigue, Congestive heart failure, Cut... |
ORPHA:53721 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
| Fixed Subaortic Stenosis |
|
Syncope, Mitral regurgitation, Systolic heart murmur, Palpitations, Chest pain, Aortic regurgitat... |
ORPHA:3092 |
| Autoerythrocyte Sensitization Syndrome |
|
Ecchymosis, Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Pain, Myalgia, Art... |
ORPHA:324636 |
| Cholangiocarcinoma |
|
Fatigue, Abdominal pain, Biliary tract neoplasm |
ORPHA:70567 |
| Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Ischemic stroke |
OMIM:182410 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hemangioma, Intracranial hemorrhage |
ORPHA:398189 |
| Babesiosis |
|
Respiratory insufficiency, Cough, Myocardial infarction, Myalgia, Fatigue, Arthralgia, Congestive... |
ORPHA:108 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Fatigue, Vasculitis, Pulmonary... |
ORPHA:228116 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Fatigue, Respiratory insufficiency |
OMIM:212350 |
| Undifferentiated Pleomorphic Sarcoma |
|
Fatigue, Soft tissue sarcoma |
ORPHA:2023 |
| Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Hemangioma, Patent ductus arteriosus, Gastrointestinal hemorrhage, Abn... |
ORPHA:90308 |
| Familial Afibrinogenemia |
|
Cerebral hemorrhage, Epistaxis, Abnormal bleeding, Gingival bleeding |
ORPHA:98880 |
| Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Fatigue, ... |
ORPHA:99106 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Petechiae, Chronic leukemia, Recurrent intrapulmonary hemorrhage, Fatigue, Vasculitis,... |
ORPHA:906 |
| Adiposis Dolorosa |
|
Arthralgia, Fatigue, Painful subcutaneous lipomas, Chronic pain |
OMIM:103200 |
| Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration, Intracranial hemorrhage, Neoplasm, Melanoma |
ORPHA:2481 |
| Familial Hyperaldosteronism Type Ii |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Secretory adrenocortical adenoma |
ORPHA:404 |
| Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Fatigue, Reticular pattern ... |
ORPHA:99931 |
| Liddle Syndrome |
|
Hypertension, Fatigue, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
| Familial Hyperaldosteronism Type I |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Secretory adrenocortical adenoma |
ORPHA:403 |
| Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Chest pain, Aortic regurgitation, Restrictive c... |
ORPHA:75566 |
| Autoimmune Hemolytic Anemia |
|
Lymphoma, Fatigue, Congestive heart failure, Dyspnea, Arrhythmia, Abdominal pain |
ORPHA:98375 |
| Evans Syndrome |
|
Syncope, Petechiae, Epistaxis, Fatigue, Dyspnea, Bruising susceptibility |
ORPHA:1959 |
| Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... |
OMIM:178500 |
| Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
| Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... |
ORPHA:133 |
| Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Facial capillary hemangioma, Hemangioma, Epistaxis, Cerebral ischemia, High-outpu... |
ORPHA:137667 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Respiratory insufficiency, Patent ductus arteriosus, Cerebral ischemia, Fati... |
ORPHA:1880 |
| Rhabdoid Tumor |
|
Hypertension, Neoplasm of the central nervous system, Respiratory insufficiency, Neoplasm of the ... |
ORPHA:69077 |
| Extracranial Carotid Artery Aneurysm |
|
Hypertension, Total anomalous pulmonary venous return, Pain, Cerebral ischemia, Stroke, Vasculiti... |
ORPHA:494424 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Chest... |
ORPHA:276621 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Interlobular septal thickening, Elevated jugular venous pressure, Pul... |
OMIM:265450 |
| Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Night sweats, Arthral... |
ORPHA:1302 |
| Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension |
ORPHA:84090 |
| Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
| Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Ecchymosis, Hepatocellular carcinoma, Petechiae, Epistaxis, Fatigue, Portal hypertension |
OMIM:619463 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic fatigue, Exertional dyspnea, Neuroendocrine neoplasm, Neoplasm of the larynx |
ORPHA:100083 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Hypertension, Moyamoya phenomenon, Cerebral hemorrhage, Ischemic stroke |
ORPHA:280679 |
| Acute Promyelocytic Leukemia |
|
Ecchymosis, Productive cough, Gingival bleeding, Petechiae, Epistaxis, Abnormal bleeding, Exertio... |
ORPHA:520 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Pheochromocyto... |
OMIM:171420 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Fatigue, Apnea, Respiratory insufficiency |
OMIM:617239 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chills, Petechiae, Melena, Fatigue, Pulmonary edema, Respiratory failure, Abdominal pain, Capilla... |
ORPHA:340 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Breast carcinoma, Fatigue, B-cell lymphoma, Lymphoma |
ORPHA:86893 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Cough, Melena, Muscle ... |
ORPHA:464321 |
| Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Crackles, Systolic hea... |
ORPHA:99095 |
| Acquired Methemoglobinemia |
|
Syncope, Hypoxemia, Palpitations, Tachycardia, Respiratory distress, Fatigue, Dyspnea, Abdominal ... |
ORPHA:464453 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morp... |
OMIM:300845 |
| Lymphoid Interstitial Pneumonia |
|
Wheezing, Subpleural interstitial thickening, Hypoxemia, Crackles, Bronchiectasis, Cough, Raynaud... |
ORPHA:79128 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Melena, Pulmonary arteriovenous malformation, Exertional dyspne... |
OMIM:187300 |
| Kaposiform Lymphangiomatosis |
|
Ecchymosis, Epidural hemorrhage, Subconjunctival hemorrhage, Lymphangioma, Epistaxis, Cough, Abno... |
ORPHA:464329 |
| Follicular Lymphoma |
|
Fatigue, Pleural effusion, Lymphoma, Night sweats |
ORPHA:545 |
| Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
| Familial Dilated Cardiomyopathy |
|
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... |
ORPHA:217607 |
| Rheumatic Fever |
|
Myocarditis, Sinusitis, Pericarditis, Respiratory insufficiency, Epistaxis, Arthralgia, Fatigue, ... |
ORPHA:3099 |
| Polycythemia Vera |
|
Cerebral hemorrhage, Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome |
OMIM:263300 |
| Refractory Anemia With Excess Blasts |
|
Palpitations, Multiple lineage myelodysplasia, Acute myeloid leukemia, Fatigue, Single lineage my... |
ORPHA:86839 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Retinal capillary h... |
ORPHA:29072 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... |
OMIM:610655 |
| Juvenile Polyposis Syndrome |
|
Visceral angiomatosis, Hemangioblastoma, Spontaneous, recurrent epistaxis, Neoplasm of the small ... |
ORPHA:2929 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Lymphoproliferative disorder, Tachycardia, Arthralgia, Exertional dys... |
ORPHA:90033 |
| Spontaneous Periodic Hypothermia |
|
Fatigue, Arrhythmia, Abnormal pattern of respiration |
ORPHA:29822 |
| Wyburn-Mason Syndrome |
|
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Abnormal cerebral vascular morphology, Subarac... |
ORPHA:53719 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Dyspnea, Fatigue |
ORPHA:228312 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility |
OMIM:262850 |
| Simple Cryoglobulinemia |
|
Hypertension, Chronic lymphatic leukemia, Pericarditis, Multiple myeloma, Monoclonal immunoglobul... |
ORPHA:91139 |
| Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Hypoxemia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Pulmonary he... |
ORPHA:2038 |
| Mastocytosis |
|
Respiratory insufficiency, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Cough, S... |
ORPHA:98292 |
| Hellp Syndrome |
|
Cerebral hemorrhage, Prolonged prothrombin time, Back pain, Fatigue, Pulmonary edema, Epigastric ... |
ORPHA:244242 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia |
ORPHA:1345 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fatigue, Congestive heart failure, Arrhythmia |
OMIM:302060 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Respiratory insufficiency, Cou... |
ORPHA:183 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebellar ... |
OMIM:605714 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Lymphoma, Arthralgia, Exertional dyspnea, Fatigue |
ORPHA:90036 |
| Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Hypoxemia, Pulmonary capillary hemangiomatosis, Interlobular septal th... |
ORPHA:199241 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Hypertension, Paroxysmal dyspnea, Pneumothorax, Aortic regurgitation, Dilatation of the cerebral ... |
ORPHA:91387 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Spontaneous, recurrent epistaxis, Melena, Pulmonary arteriovenous malformation, Transient ischemi... |
OMIM:600376 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Reduced ejection fraction, Tachypnea, Tachycardia, Heart block, Myalgia, Fatigue, Pulm... |
ORPHA:542323 |
| Cocaine Intoxication |
|
Wheezing, Ventricular arrhythmia, Pulmonary edema, Diffuse alveolar hemorrhage, Hyperventilation,... |
ORPHA:90068 |
| Dural Sinus Malformation |
|
Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhage, Ear pain, Stroke, Subarachnoid... |
ORPHA:97339 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Palpitatio... |
ORPHA:231625 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Fatigue, Portal hypertension, Abdominal pain, Bone pain, Multiple li... |
ORPHA:1414 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Pulmonary arterial hypertensio... |
ORPHA:70591 |
| Inhalational Anthrax |
|
Respiratory distress, Fatigue, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Waldenström Macroglobulinemia |
|
Gingival bleeding, Respiratory insufficiency, Leukemia, Monoclonal immunoglobulin M proteinemia, ... |
ORPHA:33226 |
| Hemochromatosis, Type 4 |
|
Arthralgia, Fatigue, Arrhythmia, Cardiomyopathy |
OMIM:606069 |
| Familial Colorectal Cancer Type X |
|
Neuroblastoma, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Glioblastoma mul... |
ORPHA:440437 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue |
OMIM:618573 |
| Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Hypoxemia, Systolic heart murmur, Tricuspid regurgitation, Abnormal at... |
ORPHA:439 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Wheezing, Crackles, Systolic hea... |
ORPHA:1329 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Thyroid carcinoma, Meningioma, Neoplasm of the breast, N... |
ORPHA:109 |
| Classic Hodgkin Lymphoma |
|
Respiratory insufficiency, Neoplasm, Lymphoma, Cough, Fatigue, Bone pain, Chest pain |
ORPHA:391 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Juvenile gastrointestinal polyposis, Mitral regurgitation, Gastrointestinal carci... |
OMIM:175050 |
| Pheochromocytoma |
|
Episodic hypertension, Cerebral hemorrhage, Hemangioma, Tachycardia, Neoplasm, Congestive heart f... |
OMIM:171300 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Fatigue |
ORPHA:79299 |
| Relapsing Fever |
|
Chills, Prolonged prothrombin time, Epistaxis, Tachycardia, Cough, Myalgia, Arthralgia, Fatigue, ... |
ORPHA:91547 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Myelodysplasia, Cerebral ischemia, Respiratory distress, Fatigue, Stroke |
ORPHA:927 |
| Familial Hyperaldosteronism Type Iii |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:251274 |
| Lynch Syndrome |
|
Ovarian neoplasm, Neuroblastoma, Neoplasm of the rectum, Hepatocellular carcinoma, Glioblastoma m... |
ORPHA:144 |
| Legionnaires Disease |
|
Myocarditis, Restrictive ventilatory defect, Pericarditis, Respiratory insufficiency, Chest pain,... |
ORPHA:549 |
| Primary Myelofibrosis |
|
Constitutional symptom, Ecchymosis, Petechiae, Hemangioma, Flank pain, Fatigue, Purpura, Hematolo... |
ORPHA:824 |
| Unclassified Myelodysplastic Syndrome |
|
Myelodysplasia, Night sweats, Multiple lineage myelodysplasia, Acute myeloid leukemia, Fatigue |
ORPHA:98827 |
| Fetal Gaucher Disease |
|
Neonatal death, Intracranial hemorrhage, Stillbirth |
ORPHA:85212 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue |
ORPHA:79283 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... |
OMIM:608710 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Basal cell carcinoma, Squamous cell ... |
ORPHA:363618 |
| Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Myocardial infarction, Respiratory failure, Gastrointestinal hemorrha... |
ORPHA:679 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Pericarditis, Pulmonary arterial hypertension, Pleuritis, Myalgia, Arthralgia, Gastr... |
ORPHA:809 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Gangrene, Purpura, Pulmonary embolism, Abnormal cerebral vascular morphology |
ORPHA:745 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Intracranial hemorrhage, Epistaxis, Pulmonary arterial hypertension, Second degree ... |
ORPHA:369929 |
| Hemochromatosis, Type 3 |
|
Fatigue, Purpura, Cardiomyopathy |
OMIM:604250 |
| Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Intracranial hemorrhage, Apnea, Stillbirth |
OMIM:241500 |
| Glucocorticoid Resistance, Generalized |
|
Hypertension, Fatigue |
OMIM:615962 |
| Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Myalgia, Respiratory dist... |
ORPHA:454836 |
| Aggressive Systemic Mastocytosis |
|
Constitutional symptom, Abdominal cramps, Leukemia, Arthralgia, Gastrointestinal hemorrhage, Fati... |
ORPHA:98850 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Exertional dyspnea, Fatigue, Tachycardia |
ORPHA:90037 |
| Juvenile Dermatomyositis |
|
Restrictive ventilatory defect, Pericarditis, Telangiectasia of the skin, Cardiomyopathy, Bundle ... |
ORPHA:93672 |
| Autoinflammation With Infantile Enterocolitis |
|
Myalgia, Diffuse alveolar hemorrhage, Fatigue, Arthralgia |
OMIM:616050 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Subcutaneous hemorrhage, Gangrene, Purpura, Pulmonary embolism, Abnormal cerebral vascular morpho... |
ORPHA:743 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Cough, Fatigue, Dyspnea, Chest pain |
ORPHA:99868 |
| Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Tachypnea, Elevated jugula... |
ORPHA:2041 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neoplasm of the g... |
ORPHA:44890 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Myalgia, Fatigue, Dyspnea, Heart murmur |
OMIM:615418 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Myalgia, Chronic fat... |
ORPHA:254875 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Right ventricular failure, Facial telangiectasia, Neuroendocrine neoplasm, Neoplasm of the lung, ... |
ORPHA:100085 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Chills, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left vent... |
ORPHA:99827 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue, Tachycardia |
ORPHA:276608 |
| Dermatomyositis |
|
Myocarditis, Lung adenocarcinoma, Fatigue, Vasculitis, Recurrent respiratory infections, Pericard... |
ORPHA:221 |
| Kaposi Sarcoma |
|
Neoplasm of the skin, Lymphoproliferative disorder, Hemangioma, Fatigue, Abnormal lung morphology... |
ORPHA:33276 |
| Methylmalonic Acidemia With Homocystinuria |
|
Fatigue |
ORPHA:26 |
| Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the lung, Genital neoplasm, Neoplasia of the pleura, Soft tissue neoplasm, Neoplasm, ... |
ORPHA:2126 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Hematochezia |
OMIM:277175 |
| Whipple Disease |
|
Myocarditis, Pericarditis, Respiratory insufficiency, Pleuritis, Cough, Myocardial infarction, My... |
ORPHA:3452 |
| Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Pleural thickening, Exertional dyspnea, Fatigue, Restrictive ventilato... |
ORPHA:60025 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... |
ORPHA:75249 |
| Adult-Onset Still Disease |
|
Myocarditis, Restrictive ventilatory defect, Pericarditis, Pleuritis, Myalgia, Arthralgia, Fatigu... |
ORPHA:829 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Intracranial hemorrhage, Myelodysplasia, Vasculitis in the skin, Raynaud ... |
ORPHA:3260 |
| Carney Triad |
|
Hypertension, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Tachycardi... |
ORPHA:139411 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Postexertional malaise, Arrhythmia, Ventricu... |
ORPHA:90647 |
| Parkes Weber Syndrome |
|
Pain, Back pain, Neck pain, High-output congestive heart failure, Hemangiomatosis, Bounding pulse... |
ORPHA:90307 |
| Mirage Syndrome |
|
Intracranial hemorrhage, Myelodysplasia, Petechiae, Patent ductus arteriosus, Aspiration pneumonia |
OMIM:617053 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Exercise-induced myalgia, Tachycardia, Exertional dyspnea, Postexert... |
ORPHA:368 |
| Hyperinsulinism Due To Insr Deficiency |
|
Fatigue |
ORPHA:263458 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Apnea, Respiratory insufficiency |
OMIM:618886 |
| Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Wheezing, Ventricular arrhythmia, Patent... |
ORPHA:97214 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Fatigue, Cardiomyopathy |
OMIM:617713 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Fatigue, Hypotension |
OMIM:611489 |
| Medulloblastoma |
|
Neuroblastoma, Neoplasm of the lung, Adenomatous colonic polyposis, Back pain, Spinal cord tumor,... |
ORPHA:616 |
| Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Cough, Cerebral ischemia, Recurrent pharyngitis, Myalgia, Arthralgia, Fa... |
ORPHA:397 |
| Cardiogenic Shock |
|
Right ventricular failure, Hypoxemia, Crackles, Mitral regurgitation, Low pulse pressure, Elevate... |
ORPHA:97292 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Myalgia, Congest... |
ORPHA:99901 |
| Lymphangioleiomyomatosis |
|
Atelectasis, Pneumothorax, Chylothorax, Cough, Pulmonary lymphangiomyomatosis, Gastrointestinal h... |
ORPHA:538 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Syncope, Chronic lymphatic leukemia, Myelodysplasia, Multiple myeloma, Chronic myelomonocytic leu... |
ORPHA:98849 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Pleuritis, Recurrent intrapulmonary hemorrhage, Cerebral ischemia, Gastrointestinal he... |
ORPHA:900 |
| X-Linked Sideroblastic Anemia |
|
Dyspnea, Fatigue |
ORPHA:75563 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Fatigue, Gingival bleeding |
OMIM:618549 |
| Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... |
OMIM:615344 |
| Postpoliomyelitis Syndrome |
|
Respiratory insufficiency, Pain, Arthralgia, Myalgia, Fatigue, Hypoventilation |
ORPHA:2942 |
| Mucolipidosis Type Iii |
|
Fatigue |
ORPHA:577 |
| Myofibrillar Myopathy 10 |
|
Myalgia, Increased QRS voltage, Postexertional malaise, Prolonged QTc interval |
OMIM:619040 |
| Aortic Arch Interruption |
|
Shock, Hypertension, Truncus arteriosus, Systolic heart murmur, Tachypnea, Aortic regurgitation, ... |
ORPHA:2299 |
| Thyroid Hemiagenesis |
|
Fatigue, Umbilical hernia |
ORPHA:95719 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... |
ORPHA:275766 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Fatigue, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
| Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Palpitations, Fatigue, Zollinger-Ellison ... |
ORPHA:97279 |
| Lyme Disease |
|
Atrioventricular block, Myalgia, Arthralgia, Fatigue, Arrhythmia |
ORPHA:91546 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal P wave, Obstructive sleep apnea, Gastrointestinal hemorrhag... |
ORPHA:85443 |
| Postorgasmic Illness Syndrome |
|
Palpitations, Hypertension, Fatigue |
ORPHA:279947 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Postexertional malaise, Hepatocellular carcinoma |
ORPHA:369 |
| Propionic Acidemia |
|
Tachypnea, Apnea, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:606054 |
| Riddle Syndrome |
|
Telangiectasia, Pneumonia, Conjunctival telangiectasia, Chronic sinusitis, Respiratory failure, A... |
ORPHA:420741 |
| Pulmonary Hypertension, Primary, 1 |
|
Right ventricular failure, Telangiectasia, Hypertension, Pulmonary artery vasoconstriction, Pulmo... |
OMIM:178600 |
| Mast Cell Sarcoma |
|
Sarcoma, Fatigue |
ORPHA:66661 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Myalgia, Fatigue, Arrhythmia |
OMIM:609286 |
| Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Prolonged prothrombin time, Tachycardia, Subcutaneous hemorrhage, Abnormal ble... |
ORPHA:335 |
| Vexas Syndrome |
|
Myelodysplasia, Night sweats, Arthralgia, Fatigue, Arteritis |
OMIM:301054 |
| Cronkhite-Canada Syndrome |
|
Stomach cancer, Gastrointestinal carcinoma, Neoplasm, Fatigue, Intestinal polyposis, Hamartomatou... |
ORPHA:2930 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Bronchiectasis, Verrucae, Cough, Fatigue, Recurrent respiratory infections |
ORPHA:33110 |
| Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... |
OMIM:615343 |
| Immunodeficiency, Common Variable, 11 |
|
Fatigue, Recurrent respiratory infections |
OMIM:615767 |
| Rheumatoid Arthritis |
|
Arthralgia, Fatigue, Vasculitis |
OMIM:180300 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Cardiomyopathy, A... |
ORPHA:465508 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
| Laubry-Pezzi Syndrome |
|
Mildly reduced ejection fraction, Palpitations, Aortic regurgitation, Patent ductus arteriosus, E... |
ORPHA:99094 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue |
OMIM:253601 |
| Pfapa Syndrome |
|
Arthralgia, Fatigue, Abdominal pain, Recurrent pharyngitis |
ORPHA:42642 |
| Myopathy, Centronuclear, 4 |
|
Myalgia, Fatigue |
OMIM:614807 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced myalgia, Exertional dyspnea, Fatigue, Arrhythmia |
ORPHA:42 |
| Leishmaniasis |
|
Rhinitis, Night sweats, Arthralgia, Fatigue, Abnormal bleeding |
ORPHA:507 |
| Hermansky-Pudlak Syndrome |
|
Epistaxis, Basal cell carcinoma, Cardiomyopathy, Squamous cell carcinoma of the skin, Gastrointes... |
ORPHA:79430 |
| Isolated Agammaglobulinemia |
|
Sinusitis, Fatigue, Recurrent respiratory infections, Pneumonia |
ORPHA:229717 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Cerebral hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Angina pectoris |
OMIM:177850 |
| Porphyria |
|
Hypertension, Fatigue, Abdominal pain, Chest pain |
ORPHA:738 |
| Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Cough, Pulmonary venous hypertension, I... |
ORPHA:90060 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue |
OMIM:613157 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Abnormality of neuronal migration, Antenatal intracerebral hemorrhage, Re... |
OMIM:608836 |
| Poems Syndrome |
|
Lymphoproliferative disorder, Hemangioma, Respiratory insufficiency due to muscle weakness, Pain,... |
ORPHA:2905 |
| Botulism |
|
Abdominal pain, Fatigue, Arrhythmia, Respiratory insufficiency |
ORPHA:1267 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Chest pain, Cough, Fatigue, Decreased DLCO, Restrictiv... |
ORPHA:747 |
| Cerebral Visual Impairment |
|
Ischemic stroke, Intracranial hemorrhage |
ORPHA:447788 |
| Adiposis Dolorosa |
|
Arthralgia, Fatigue, Telangiectasia of the skin, Bruising susceptibility |
ORPHA:36397 |
| Liposarcoma |
|
Sarcoma, Fatigue, Abdominal pain |
ORPHA:69078 |
| Tropical Endomyocardial Fibrosis |
|
Fatigue, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decrease... |
ORPHA:75565 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Post-partum hemorrhage, Melena, Fatigue, Oral cavity bleeding |
ORPHA:98870 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Dyspnea, Fatigue |
ORPHA:254509 |
| Reynolds Syndrome |
|
Respiratory insufficiency, Telangiectasia of the skin, Myalgia, Fatigue, Mucosal telangiectasiae |
ORPHA:779 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Fatigue, Cardiomyopathy |
ORPHA:1215 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Neoplasm, Fatigue, Recurrent pneumonia, Abnormal lung morphology |
ORPHA:47 |
| Spastic Paraplegia Type 2 |
|
Bowel incontinence, Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
| Myofibrillar Myopathy 11 |
|
Fatigue, Reduced forced vital capacity |
OMIM:619178 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
| Classic Homocystinuria |
|
Hypertension, Intracranial hemorrhage, Cerebral ischemia, Subcutaneous hemorrhage, Gastrointestin... |
ORPHA:394 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... |
ORPHA:70 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Chronic pain, Respiratory insufficiency, Atelectasis, Respiratory in... |
ORPHA:365 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Fatigue |
OMIM:251950 |
| Q Fever |
|
Myocarditis, Pericarditis, Pneumonia, Cough, Night sweats, Myalgia, Respiratory distress, Fatigue... |
ORPHA:781 |
| Menkes Disease |
|
Intracranial hemorrhage, Exostoses, Spontaneous hematomas, Gastrointestinal hemorrhage, Fatigue, ... |
ORPHA:565 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency, Capillary hemangioma, Patent ductus arteriosu... |
ORPHA:163979 |
| Abeta Amyloidosis, Dutch Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:100006 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Fatigue |
ORPHA:314632 |
| Athyreosis |
|
Fatigue |
ORPHA:95713 |
| Familial Cold Urticaria |
|
Arthralgia, Fatigue, Myalgia, Abdominal pain |
ORPHA:47045 |
| Immunodeficiency 70 |
|
Chronic fatigue, Verrucae, Recurrent sinusitis |
OMIM:618969 |
| Fabry Disease |
|
Hypertrophic cardiomyopathy, Hypertension, Chronic pulmonary obstruction, Respiratory insufficien... |
ORPHA:324 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea, Interlobular sep... |
OMIM:265120 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Fatigue, Respiratory tract infection, Pulmonary embolism, Dyspnea, Pleural effusion... |
ORPHA:567546 |
| Poliomyelitis |
|
Hypertension, Hypovolemic shock, Pain, Myalgia, Arthralgia, Fatigue, Respiratory failure, Impairm... |
ORPHA:2912 |
| Acys Amyloidosis |
|
Cerebral hemorrhage, Stroke |
ORPHA:100008 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Pulmonary arterial hypertension, Arterial occlusion, Myocardial infarction, Arthralg... |
ORPHA:464343 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Arthralgia, Fatigue, Myalgia, Chills |
OMIM:120100 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Arthralgia, Dyspnea, Fatigue, Abdominal pain |
OMIM:615399 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Orthostatic hypotension, Orthostatic syncope, Rhinitis, Fatigue, Abnormal EKG, Dyspnea, ... |
ORPHA:230 |
| Post-Traumatic Pituitary Deficiency |
|
Fatigue, Hypotension |
ORPHA:95619 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Chronic fatigue, Bone pain |
OMIM:610539 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the lung, Neoplasm of the rectum, Neoplasm of the liver, Chronic fatigue, Intestinal ... |
ORPHA:424016 |
| Hypotonia-Cystinuria Syndrome |
|
Fatigue |
ORPHA:163690 |
| Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... |
ORPHA:95459 |
| Zygomycosis |
|
Myocarditis, Sinusitis, Pericarditis, Atelectasis, Pneumothorax, Dilatation of the cerebral arter... |
ORPHA:73263 |
| Stevens-Johnson Syndrome |
|
Restrictive ventilatory defect, Cough, Myocardial infarction, Gastrointestinal hemorrhage, Fatigu... |
ORPHA:36426 |
| Alveolar Echinococcosis |
|
Portal hypertension, Budd-Chiari syndrome, Cough, Fatigue, Asthenia, Pulmonary cyst, Dyspnea, Epi... |
ORPHA:284 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Vasculitis, Bone pain |
ORPHA:324964 |
| Nelson Syndrome |
|
Hypertension, Intracranial hemorrhage, Pituitary carcinoma, Ocular pain, Pituitary corticotropic ... |
ORPHA:199244 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Fatigue, Bruising susceptibility |
ORPHA:98791 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
| Dopa-Responsive Dystonia |
|
Urinary incontinence, Fatigue, Pain |
ORPHA:255 |
| Superficial Siderosis |
|
Neoplasm of the central nervous system, Back pain, Dysgyria, Abnormal bleeding, Internal hemorrha... |
ORPHA:247245 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Fatigue |
OMIM:614831 |
| Behçet Disease |
|
Pericarditis, Mitral regurgitation, Aortic regurgitation, Pleuritis, Cerebral ischemia, Myocardia... |
ORPHA:117 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Abdominal pain, Hepatocellular carcinoma |
ORPHA:65682 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Sinus bradycardia, Mitral regurgitation, Snoring, Tricuspid regurgitation, Fatigue, Lower limb pain |
OMIM:261990 |
| Congenital Isolated Acth Deficiency |
|
Fatigue, Hypotension |
ORPHA:199296 |
| Hennekam-Beemer Syndrome |
|
Respiratory insufficiency, Pneumonia, Telangiectasia of the skin, Fatigue, Arrhythmia, Abdominal ... |
ORPHA:2135 |
| Arachnoid Cyst |
|
Sciatica, Neoplasm, Back pain, Urinary incontinence, Subarachnoid hemorrhage, Lower limb pain, Ab... |
ORPHA:2356 |
| Ileal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Arterial ... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Arterial ... |
ORPHA:100077 |
| Autoimmune Hepatitis |
|
Spider hemangioma, Hepatocellular carcinoma, Arthralgia, Chronic fatigue, Gastrointestinal hemorr... |
ORPHA:2137 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue |
ORPHA:171612 |
| Meningioma |
|
Cerebral hemorrhage, Syncope, Neoplasm of the skin, Neoplasm of the tongue, Neoplasm of the anter... |
ORPHA:2495 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subependymal nodules, Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Prolonged prothrombin time, Pulmonary arterial hypertension, Aborted sudd... |
OMIM:614921 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Telangiectasia of... |
ORPHA:3342 |
| Myotonia Fluctuans |
|
Myalgia, Fatigue, Apnea, Stridor |
ORPHA:99734 |
| Amyotrophic Lateral Sclerosis |
|
Abnormal respiratory system physiology, Pain, Fatigue, Respiratory failure, Dyspnea |
ORPHA:803 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Fatigue |
OMIM:615954 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Testicular adrenal rest tumor, Intracranial hemorrhage |
ORPHA:90795 |
| Cinca Syndrome |
|
Myalgia, Fatigue, Arthralgia, Purpura |
ORPHA:1451 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Postexertional malaise, Ankle pain, Knee pain |
ORPHA:93308 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Pulmonary insufficiency, Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Fat... |
ORPHA:230851 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Fatigue |
OMIM:607426 |
| Toxic Epidermal Necrolysis |
|
Restrictive ventilatory defect, Cough, Respiratory distress, Gastrointestinal hemorrhage, Fatigue... |
ORPHA:537 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Bronchiectasis, Recurrent bronchitis, Fatigue, Recurrent upper respiratory tract infections, Recu... |
ORPHA:293978 |
| Immunodeficiency 58 |
|
Chronic bronchitis, Allergic rhinitis, Chronic pulmonary obstruction, Bronchiectasis, Verrucae, F... |
OMIM:618131 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Pneumonia, Bronchiectasis, Chronic sinusitis, Recurrent lower respiratory trac... |
ORPHA:183675 |
| Mal De Débarquement |
|
Fatigue |
ORPHA:210272 |
| Erdheim-Chester Disease |
|
Cough, Fatigue, Abnormal pulmonary interstitial morphology, Congestive heart failure, Pulmonary f... |
ORPHA:35687 |
| Hepatocellular Carcinoma |
|
Constitutional symptom, Bone pain, Budd-Chiari syndrome, Neoplasm, Fatigue, Epigastric pain, Dysp... |
ORPHA:88673 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Thyroid carcinoma, Uterine leiomyoma, Pancreatic adenocarcinoma, Renal ham... |
ORPHA:99880 |
| Selective Igm Deficiency |
|
Thyroid carcinoma, Allergic rhinitis, Stomach cancer, Multiple myeloma, Bronchiectasis, Recurrent... |
ORPHA:331235 |
| Lead Poisoning |
|
Hypertension, Abdominal cramps, Abnormal respiratory system physiology, Reduced sperm motility, F... |
ORPHA:330015 |
| Primary Sjögren Syndrome |
|
Chronic pain, Lymphocytic interstitial pneumonia, Lymphoproliferative disorder, Raynaud phenomeno... |
ORPHA:289390 |
| Acute Liver Failure |
|
Shock, Intracranial hemorrhage, Abnormal respiratory system physiology, Abnormal pattern of respi... |
ORPHA:90062 |
| Nocardiosis |
|
Productive cough, Chills, Pericarditis, Pneumonia, Pneumothorax, Pleuritis, Night sweats, Respira... |
ORPHA:31204 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Recurrent acute respiratory tract infection, Myocardial infarction, Arth... |
ORPHA:95409 |
| Parathyroid Carcinoma |
|
Shortened QT interval, Thyroid carcinoma, Parathyroid carcinoma, Uterine leiomyoma, Pancreatic ad... |
ORPHA:143 |
| Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage, Meningioma, Hemangioma, Choroidal hemangioma, Neuroma |
ORPHA:221061 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arterial hypertension, Respiratory distres... |
ORPHA:79282 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Myalgia, Cardiomyopathy, Fatigue, Congestive heart failure |
OMIM:619259 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Apneic episodes in infancy, Paroxysmal dyspnea, Mixed total anomalous ... |
ORPHA:99125 |
| Goodpasture Syndrome |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Restrictive ventilatory defect, Bloody br... |
OMIM:233450 |
| Glioblastoma |
|
Fatigue, Glioblastoma multiforme |
ORPHA:360 |
| Neuroleptic Malignant Syndrome |
|
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Fatigue, Urinary incontinence, Pulmo... |
ORPHA:94093 |
| Gaisböck Syndrome |
|
Hypertension, Elevated diastolic blood pressure, Myocardial infarction, Fatigue, Stroke, Hypovole... |
ORPHA:90041 |
| Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Constrictive pericarditis, Lymphoma, Fatigue, B-cell lymphoma, Intesti... |
ORPHA:90363 |
| Listeriosis |
|
Myocarditis, Chills, Pericarditis, Pneumonia, Back pain, Myalgia, Arthralgia, Fatigue, Respirator... |
ORPHA:533 |
| Acute Monoblastic/Monocytic Leukemia |
|
Exertional dyspnea, Fatigue, Acute monocytic leukemia |
ORPHA:514 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fatigue, Tachycardia |
ORPHA:263455 |
| Eosinophilic Fasciitis |
|
Arthralgia, Fatigue, Myalgia |
ORPHA:3165 |
| Hutchinson-Gilford Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... |
ORPHA:740 |
| Cyclic Neutropenia |
|
Sinusitis, Fatigue, Respiratory tract infection, Abdominal pain, Bone pain |
ORPHA:2686 |
| Shigellosis |
|
Myocarditis, Hypovolemic shock, Abdominal cramps, Pneumonia, Fatigue, Asthenia, Purpura, Abdomina... |
ORPHA:810 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Arterial rupture, U... |
ORPHA:536545 |
| Congenital Analbuminemia |
|
Low pulse pressure, Fatigue, Recurrent lower respiratory tract infections |
ORPHA:86816 |
| Aregenerative Anemia |
|
Abnormal bleeding, Dyspnea, Fatigue, Bruising susceptibility |
ORPHA:101096 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Neonatal death, Intraventricular hemorrhage |
OMIM:619055 |
| Cystinosis |
|
Fatigue, Portal hypertension |
ORPHA:213 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Hepatocellular adenoma, Cardiomyopathy, Myalgia, Fatigue |
ORPHA:370 |
| Myxedema |
|
Fatigue |
OMIM:255900 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Postexertional malaise, Knee pain |
ORPHA:166002 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hypertension, Renovascular hypertension, Budd-Chiari syndrome, Pain, Flank pain, Large vessel vas... |
ORPHA:49041 |
| Tuberous Sclerosis Complex |
|
Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Respiratory failure, Parathyroid adenoma, H... |
ORPHA:805 |
| Cystic Echinococcosis |
|
Fatigue, Multiple pulmonary cysts, Asthma, Pulmonary cyst, Epigastric pain, Abnormal subpleural m... |
ORPHA:400 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Fatigue, Asthenia |
OMIM:618107 |
| Renal Nutcracker Syndrome |
|
Syncope, Orthostatic hypotension, Tachycardia, Flank pain, Fatigue, Abdominal pain |
ORPHA:71273 |
| Castleman Disease |
|
Constitutional symptom, Restrictive cardiomyopathy, Cough, Flank pain, Fatigue, Dyspnea, Abdomina... |
ORPHA:160 |
| Chikungunya |
|
Chills, Gingival bleeding, Petechiae, Epistaxis, Raynaud phenomenon, Myalgia, Arthralgia, Fatigue... |
ORPHA:324625 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Pulmonary arterial hypertension, Aortopulmonary window, Anomalous origin of ... |
ORPHA:99050 |
| Cold Agglutinin Disease |
|
Arthralgia, Fatigue, Back pain |
ORPHA:56425 |
| Herpes Simplex Virus Encephalitis |
|
Fatigue, Respiratory failure requiring assisted ventilation, Chills |
ORPHA:1930 |
| Hyperimmunoglobulin G1(A1) Syndrome |
|
Chronic fatigue |
OMIM:144120 |
| Pituitary Apoplexy |
|
Hypertension, Pituitary adenoma, Fatigue, Trigeminal neuralgia, Hypotension |
ORPHA:95613 |
| Bone Marrow Failure Syndrome 6 |
|
Myalgia, Chronic fatigue, Recurrent sinusitis, Squamous cell carcinoma of the tongue |
OMIM:618849 |
| Brucellosis |
|
Myocarditis, Chills, Pericarditis, Lung abscess, Pneumonia, Arthralgia, Fatigue, Transient ischem... |
ORPHA:1304 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Fatigue, Abnormal pulmonary interstitial morphology, Recurrent r... |
ORPHA:77261 |
| Pulmonary Hypertension, Primary, 2 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance |
OMIM:615342 |
| Pituicytoma |
|
Fatigue |
ORPHA:251623 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatocellular carcinoma, Pro... |
ORPHA:171 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Fatigue, Stridor |
ORPHA:352649 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Prolonged prothrombin time, Tachypnea, Apnea, Fatigue, Cardiac arrest, Hy... |
ORPHA:20 |
| Gitelman Syndrome |
|
Prolonged QT interval, Palpitations, Ventricular tachycardia, Arthralgia, Fatigue, Abdominal pain... |
OMIM:263800 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Arthralgia, Pituitary adenoma, Fatigue, Abdominal pain, Hypotension |
ORPHA:199299 |
| Coccidioidomycosis |
|
Pericarditis, Pneumonia, Vasospasm, Cough, Cerebral ischemia, Pleural empyema, Myalgia, Respirato... |
ORPHA:228123 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Arthralgia, Fatigue |
ORPHA:69126 |
| Inhalational Botulism |
|
Dyspnea, Fatigue |
ORPHA:254504 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Myalgia, Fatigue, Hepatocellular adenoma, Cardiomyopathy |
ORPHA:264580 |
| Pediatric Hepatocellular Carcinoma |
|
Fatigue, Epigastric pain, Abdominal pain |
ORPHA:33402 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage |
ORPHA:79284 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular arrhythmia, Atrial fibrillation, P... |
ORPHA:254892 |
| Dubin-Johnson Syndrome |
|
Fatigue, Abdominal pain |
ORPHA:234 |
| Xeroderma Pigmentosum |
|
Telangiectasia, Conjunctival telangiectasia, Telangiectasia of the skin, Neoplasm, Arthralgia, Fa... |
ORPHA:910 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Fatigue, Acute myelomonocytic leukemia, Low back pain |
ORPHA:86843 |
| Somatostatinoma |
|
Adrenocortical adenoma, Neoplasm of the pancreas, Neoplasm of the small intestine, Medullary thyr... |
ORPHA:97283 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Fatigue |
ORPHA:98808 |
| Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Back pain, Fatigue, Urinary incontinence, Subarachnoid hem... |
ORPHA:139417 |
| Kawasaki Disease |
|
Myocarditis, Pericarditis, Arthralgia, Fatigue, Vasculitis, Abnormal pulmonary interstitial morph... |
ORPHA:2331 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Myalgia, Fatigue |
ORPHA:98673 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Abdominal pain, Pulmonary embolism, Pneumonia, Budd-Chiari syndrome |
OMIM:226300 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| New-Onset Refractory Status Epilepticus |
|
Fatigue |
ORPHA:363558 |
| Becker Muscular Dystrophy |
|
Myalgia, Fatigue |
ORPHA:98895 |
| Arachnoiditis |
|
Arthralgia, Fatigue |
ORPHA:137817 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Prolonged QT interval, Crackles, Tachypnea, ST segment depression, Abnormal puls... |
ORPHA:466650 |
| Osteogenesis Imperfecta |
|
Cerebral hemorrhage, Bruising susceptibility, Neonatal respiratory distress, Visceral angiomatosi... |
ORPHA:666 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Abdominal cramps, Pneumonia, Hypertensive crisis, Pleuritis, Pleural e... |
ORPHA:544482 |
| Japanese Encephalitis |
|
Chills, Abnormal pattern of respiration, Respiratory paralysis, Myalgia, Respiratory distress, Fa... |
ORPHA:79139 |
| Angiostrongyliasis |
|
Pain, Myalgia, Arthralgia, Neck pain, Fatigue, Abdominal pain |
ORPHA:74 |
| Muckle-Wells Syndrome |
|
Myalgia, Chronic fatigue, Arthralgia |
OMIM:191900 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abdominal pain, Respiratory tract infection, Pulmonary embolism |
ORPHA:567548 |
| Sturge-Weber Syndrome |
|
Visceral angiomatosis, Conjunctival telangiectasia, Capillary hemangioma, Stroke, Pulmonary embol... |
ORPHA:3205 |
| Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Neoplasm of the skin, Cardiac conduction abnormality, Endometrial carcino... |
ORPHA:273 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Back pain, Neoplasm of the liver, Breast carcinoma, Chronic fatigue, O... |
ORPHA:1333 |
| Klatskin Tumor |
|
Fatigue, Abdominal pain, Cholangiocarcinoma |
ORPHA:99978 |
| Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Pulmonary hypoplasia, Stroke-like episode |
ORPHA:86309 |
| Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Testicular adrenal rest tumor, Episodic abdominal pain, Chronic fati... |
ORPHA:361 |
| Fixed Drug Eruption |
|
Fatigue, Chills |
ORPHA:293812 |
| Creatine Phosphokinase, Elevated Serum |
|
Myalgia, Fatigue |
OMIM:123320 |
| Hyperprolinemia Type 2 |
|
Myalgia, Chronic fatigue, Abdominal pain |
ORPHA:79101 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
| Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Fatigue, Recurrent respiratory infections |
ORPHA:100026 |
| Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Cardiomyopathy, Increased blood pressure, Stroke, Retinal hemorrhage |
ORPHA:90324 |
| Satoyoshi Syndrome |
|
Fatigue |
OMIM:600705 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Fatigue, Portal hypertension, Hepatocellular carcinoma |
ORPHA:186 |
| Gaucher Disease |
|
Gingival bleeding, Respiratory insufficiency, Pulmonary arterial hypertension, Arthralgia, Fatigu... |
ORPHA:355 |
| Dehydrated Hereditary Stomatocytosis |
|
Pulmonary venous hypertension, Episodic fatigue, Abdominal pain |
ORPHA:3202 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Fatigue |
ORPHA:521 |
| Kikuchi-Fujimoto Disease |
|
Myocarditis, Chills, Vasculitis in the skin, Night sweats, Myalgia, Arthralgia, Fatigue, Vasculit... |
ORPHA:50918 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hemangioma, Cardiomyopathy, Pulmonic stenosis, Spina bifida, Intraventricular hemorrhage, Recurre... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hemangioma, Cardiomyopathy, Pulmonic stenosis, Spina bifida, Intraventricular hemorrhage, Recurre... |
ORPHA:363958 |
| Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Chills, Petechiae, Subconjunctival hemorrhage, Prolonged prothrombin time, T... |
ORPHA:99826 |
| Loeys-Dietz Syndrome 3 |
|
Atrial fibrillation, Mitral regurgitation, Tortuous cerebral arteries, Pneumothorax, Dilatation o... |
OMIM:613795 |
| Atypical Juvenile Parkinsonism |
|
Fatigue |
ORPHA:391411 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Fatigue |
OMIM:241150 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Fatigue, Bradycardia, Umbilical hernia |
ORPHA:90674 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Fatigue, Bone pain |
ORPHA:89937 |
| Plague |
|
Chills, Chest pain, Tachycardia, Arthralgia, Respiratory distress, Fatigue, Acute infectious pneu... |
ORPHA:707 |
| Angioosteohypertrophic Syndrome |
|
Cavernous hemangioma, Visceral angiomatosis, Telangiectasia of the skin, Gastrointestinal hemorrh... |
ORPHA:2346 |
| Yellow Fever |
|
Shock, Chills, Reduced ejection fraction, Prolonged prothrombin time, Bradycardia, Excessive blee... |
ORPHA:99829 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Myalgia, Fatigue, Hepatocellular adenoma, Hepatocellular carcinoma |
ORPHA:79240 |
| Phace Syndrome |
|
Visceral angiomatosis, Abnormal cerebral artery morphology, Capillary hemangioma, Cerebral arteri... |
ORPHA:42775 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigue |
ORPHA:257 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Interstitial pneumonitis, Lymphocytoma cutis, Pleuritis, Chronic sinusitis, Fatigue... |
ORPHA:449395 |
| Non-Functioning Pituitary Adenoma |
|
Fatigue, Hypotension |
ORPHA:91349 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Elevated pulmonary artery pressure, Bidirectional shunt, Pulmonary hypo... |
OMIM:619351 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Fatigue, Umbilical hernia, Back pain |
OMIM:619234 |
| Vipoma |
|
Adrenocortical adenoma, Benign gastrointestinal tract tumors, Respiratory insufficiency due to mu... |
ORPHA:97282 |
| Hydranencephaly |
|
Abnormal cerebral artery morphology, Antenatal intracerebral hemorrhage |
ORPHA:2177 |
| Prolactinoma |
|
Fatigue, Hypotension |
ORPHA:2965 |
| Glucagonoma |
|
Adrenocortical adenoma, Neoplasm of the pancreas, Episodic abdominal pain, Chronic fatigue, Gastr... |
ORPHA:97280 |
| Sarcoidosis |
|
Abnormal cardiac ventricular function, Bronchiectasis, Ventricular tachycardia, Pneumothorax, Chy... |
ORPHA:797 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypertension, Fatigue, Stroke |
ORPHA:786 |
| Functioning Gonadotropic Adenoma |
|
Fatigue, Pituitary gonadotropic cell adenoma |
ORPHA:91348 |
| Kufor-Rakeb Syndrome |
|
Fatigue |
OMIM:606693 |
| Tetrasomy 9P |
|
Pericarditis, Pulmonary arterial hypertension, Raynaud phenomenon, Lissencephaly, Pachygyria, Fat... |
ORPHA:3310 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Ecchymosis, Pneumothorax, Pulmonary bleb, Dilatation of the cerebral artery, Arterial rupture, Pu... |
OMIM:130050 |
| Insulin-Resistance Syndrome Type B |
|
Multiple myeloma, Pneumonia, Hodgkin lymphoma, Lymphoma, Fatigue |
ORPHA:2298 |
| Addison Disease |
|
Orthostatic hypotension, Arthralgia, Fatigue, Thymoma, Abdominal pain, Hypotension |
ORPHA:85138 |
| Viss Syndrome |
|
Pulmonary artery aneurysm, Epidural hemorrhage, Tortuous cerebral arteries, Pneumothorax, Dilatat... |
OMIM:619472 |
| Lymphatic Filariasis |
|
Wheezing, Pain, Cough, Fatigue, Abnormal lung morphology, Restrictive ventilatory defect |
ORPHA:2035 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Chills |
ORPHA:86884 |
| Classical Ehlers-Danlos Syndrome |
|
Ecchymosis, Limb pain, Mitral regurgitation, Orthostatic hypotension, Dilatation of the cerebral ... |
ORPHA:287 |
| Somatomammotropinoma |
|
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Pituitary growth hormone cell ad... |
ORPHA:314769 |
| Pancreatitis, Sclerosing Cholangitis, And Sicca Complex |
|
Fatigue |
OMIM:260480 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hypoxemia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to muscle weak... |
ORPHA:2020 |
| Acromegaly |
|
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Pituitary growth hormone cell ad... |
ORPHA:963 |
| Malt Lymphoma |
|
B-cell lymphoma, Fatigue, Recurrent respiratory infections, Abdominal pain |
ORPHA:52417 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
