| Narcolepsy 1 |
|
Excessive daytime somnolence, Narcolepsy, Paroxysmal drowsiness, Abnormal rapid eye movement slee... |
OMIM:161400 |
| Narcolepsy 3 |
|
Narcolepsy, Paroxysmal drowsiness, Abnormal rapid eye movement sleep, Excessive daytime somnolence |
OMIM:609039 |
| Narcolepsy 7 |
|
Narcolepsy, Sleep paralysis, Obstructive sleep apnea, Excessive daytime somnolence |
OMIM:614250 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Ataxia, Excessive daytime somnolence, Narcolepsy, Sleep paralysis, Abnormal rapid eye movement sl... |
OMIM:604121 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... |
ORPHA:45452 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Idiopathic Hypersomnia |
|
Sleep abnormality, Excessive daytime somnolence, Hypersomnia |
ORPHA:33208 |
| Narcolepsy Type 2 |
|
Sleep abnormality, Insomnia, Excessive daytime somnolence |
ORPHA:83465 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Spasticity, Ataxia |
ORPHA:314404 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Ataxia, Hypersomnia |
OMIM:616949 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... |
OMIM:610476 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Dystonia 31 |
|
Abnormal posturing, Difficulty walking, Dysphagia |
OMIM:619565 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Hypoglycemic coma, Large for gestational age, Drowsiness, Syncope, Agitation, Palpit... |
ORPHA:276556 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Sleep abnormality, Inability to ... |
ORPHA:3095 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Weight loss, Brady... |
OMIM:168605 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Hypoglycemic coma, Large for gestational age, Drowsiness, Syncope, Agitation, Palpit... |
ORPHA:276575 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Hypoglycemic coma, Large for gestational age, Drowsiness, Syncope, Agitation, Palpit... |
ORPHA:276580 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Tachycardia, Apnea, Episodic tachypnea, Sleep abnormality, Aspiration... |
ORPHA:79264 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Hypoglycemic coma, Small for gestational age, Large for gestational age, Drowsiness,... |
ORPHA:324575 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
| Migraine, Familial Hemiplegic, 1 |
|
Drowsiness, Coma, Agitation, Ataxia |
OMIM:141500 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Coma, Tachycardia, Drowsiness, Increased body weight, Agitation, Lethargy |
ORPHA:276608 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Coma, Tachycardia, Drowsiness, Dyspnea, Hypoxemia, Syncope, Palpitations, A... |
ORPHA:464453 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
| African Trypanosomiasis |
|
Sleep abnormality, Choreoathetosis, Sleep-wake cycle disturbance, Abnormal EKG, Coma, Excessive d... |
ORPHA:3385 |
| Sandhoff Disease, Juvenile Form |
|
Failure to thrive, Ataxia, Hypersomnia, Gait disturbance, Dysphagia, Insomnia |
ORPHA:309162 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperact... |
ORPHA:216866 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Anorexia, Crackles, Sleep abnormality, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Trimethylaminuria |
|
Hypertension, Tachycardia, Recurrent pneumonia |
OMIM:602079 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Restlessness, Ataxia, Drowsiness, Respiratory insufficiency, Loss of consciousness |
ORPHA:263410 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Failure to... |
ORPHA:264675 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Coproporphyria, Hereditary |
|
Hypertension, Tachycardia, Insomnia, Respiratory paralysis |
OMIM:121300 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... |
ORPHA:563 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Tachypnea, Atrioventricular block, Hypersomnia, Lethargy, Abnormal EKG, Intercostal ret... |
ORPHA:1329 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Limb dystonia, Ataxia, Sleep abnormality, Narcolepsy, Hypo... |
ORPHA:646 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Citrullinemia Type I |
|
Coma, Ataxia, Tachypnea, Lethargy, Failure to thrive, Loss of consciousness |
ORPHA:247525 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Coma, Ataxia, Anorexia, Tachypnea, Weight loss, Lethargy |
ORPHA:79242 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
| Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Gait ataxia, Bradykinesia, EEG abnormality, Weight loss, Gait disturbanc... |
ORPHA:157941 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Mercury Poisoning |
|
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Respiratory failure, Intersti... |
ORPHA:330021 |
| Cln3 Disease |
|
Ataxia, Vacuolated lymphocytes, Bradykinesia, T-wave inversion, Bradycardia, Shuffling gait, Loss... |
ORPHA:228346 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Respiratory insufficiency, Dysphagia |
OMIM:255100 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
| Hypoglycemia, Leucine-Induced |
|
Drowsiness, Coma, Ataxia |
OMIM:240800 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... |
ORPHA:36238 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
| Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Coma, Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, Lethargy, Fai... |
OMIM:615838 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Bradykinesia, Falls, Gait imb... |
ORPHA:240094 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Beta-Ketothiolase Deficiency |
|
Coma, Ataxia, Anorexia, Excessive daytime somnolence, Tachypnea, Weight loss, Hypertension, Agita... |
ORPHA:134 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respi... |
OMIM:614299 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
| Congenital Myopathy 9A |
|
Obstructive sleep apnea, Obesity, Akinesia |
OMIM:618822 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Asthma, ... |
OMIM:610978 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Tetanus |
|
Respiratory distress, Coma, Tachycardia, Tachypnea, Hypertension, Bradycardia, Dysphagia |
ORPHA:3299 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Manganese Poisoning |
|
Akinesia, Aggressive behavior, Hypersexuality, Bradykinesia, Gait disturbance, Inappropriate laug... |
ORPHA:306682 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO, Pulmonary hemorrhage |
OMIM:616414 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Hydroxykynureninuria |
|
Coma, Tachycardia, Breathing dysregulation, Hypotension, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Gait ataxia, Bradykinesia, Gait disturbance, Dysphagia, Reduced consciousness, Abnorm... |
ORPHA:225147 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Coma, Drowsiness, Congest... |
ORPHA:31826 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Coma, Tachycardia, Apnea, Dyspnea, Lethargy, Hyperventilation |
OMIM:229700 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... |
ORPHA:449285 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Obstructive sleep apnea, Generalized hypotonia |
ORPHA:293987 |
| Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Dyspnea, Tachypnea, Choreoathetosis, Gait disturbance, Lethargy |
ORPHA:765 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Small for gestational age, Episodic tac... |
ORPHA:26793 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Coma, Hypoglycemic coma, Ataxia, Cardiac arrest, Anorexia, Apnea, Dilated cardiomyopathy, Tachypn... |
ORPHA:20 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Coma, Tachypnea, Hypertension, Agitation, Hypotension, Decreased vigil... |
ORPHA:43116 |
| Narcolepsy Type 1 |
|
Excessive daytime somnolence, Sleep abnormality, Obesity, Syncope, Abnormal rapid eye movement sleep |
ORPHA:2073 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia |
ORPHA:95717 |
| Parkinson Disease 17 |
|
Bradykinesia, Akinesia |
OMIM:614203 |
| Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Sleep abnormality, Weight loss, Bradykinesia, Agitation, Shuffling gait, D... |
ORPHA:411602 |
| Epilepsy, Hot Water, 1 |
|
Drowsiness, Hypotonia, Generalized hypotonia |
OMIM:613339 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy, Akinesia |
OMIM:607598 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Acute Lung Injury |
|
Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi... |
ORPHA:178320 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Coma, Failure to thrive, Ataxia, Drowsiness, Agitation, Cerebral ischemia, ... |
ORPHA:927 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... |
OMIM:609040 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai... |
ORPHA:542323 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Coma, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Exces... |
ORPHA:348 |
| Thyroid Hemiagenesis |
|
Hypotonia, Hypersomnia |
ORPHA:95719 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Lethargy, Thrombocytopenia |
ORPHA:391673 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Truncal ataxia |
OMIM:614407 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... |
OMIM:616812 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Inherited Creutzfeldt-Jakob Disease |
|
EEG with persistent abnormal rhythmic activity, Hypersomnia, Gait ataxia, Bradykinesia, Progressi... |
ORPHA:282166 |
| Athyreosis |
|
Hypotonia, Hypersomnia |
ORPHA:95713 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Drowsiness, Ataxia |
ORPHA:71518 |
| Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... |
ORPHA:90068 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Tachypnea, Polyphagia, Decreased body weight |
OMIM:620085 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Bradykinesia, Akinesia |
OMIM:619911 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Drowsiness, EEG with focal spikes, Gait imbalance, Gait ataxia |
ORPHA:488635 |
| Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... |
OMIM:607454 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Pulmonary arterial hypertension, Abnormal posturing, Failure to thrive, Lethargy |
OMIM:614857 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular... |
ORPHA:860 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... |
OMIM:613873 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia |
OMIM:609286 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Coma, Tachycardia, Large for gestational age, Drowsiness, Increased body weight, Agitation, Lethargy |
ORPHA:263455 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... |
OMIM:616501 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
| Propionic Acidemia |
|
Coma, Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Lethargy, Failure to thrive |
OMIM:606054 |
| Postencephalitic Parkinsonism |
|
Akinesia, Drowsiness, Abnormal respiratory system physiology, Dysphagia, Bradykinesia, Cough |
ORPHA:97349 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopathy, ... |
ORPHA:159 |
| Nipah Virus Disease |
|
Respiratory distress, Coma, Anorexia, Hypotension, Cough |
ORPHA:99825 |
| Cardiogenic Shock |
|
Abnormal EKG, Coma, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infa... |
ORPHA:97292 |
| Corticobasal Syndrome |
|
Bradykinesia, Gait disturbance, Akinesia |
ORPHA:454887 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Akinesia |
OMIM:619334 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Hypsarrhythmia, Le... |
OMIM:618321 |
| Kleine-Levin Hibernation Syndrome |
|
Episodic hypersomnia |
OMIM:148840 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Cholera |
|
Tachycardia, Tachypnea, Hypovolemic shock, Hypotension, Aspiration pneumonia, Lethargy, Loss of c... |
ORPHA:173 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Dilated cardiomyopathy, Ventricular tachycardia, Respiratory arrest |
OMIM:600649 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Bradycardia, Hypersomnia, Large for gestational age |
ORPHA:226313 |
| Kleine-Levin Syndrome |
|
Hypnagogic hallucination, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving... |
ORPHA:33543 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Cardiac arrest, Oral-pharyngeal dysphagia, Ventricular tachycardia, Gait ataxia, Gait dis... |
OMIM:616878 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Loss of ambulation, Cardiomyopathy, Wolff-Parkinson-White syndrome, Reduced forced vital capacity |
OMIM:619566 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Coma, Respiratory failure requiring assisted ventilation, Ataxia, Agg... |
ORPHA:83597 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Decreased nerve conduction velocity, Tachypnea, Respiratory failure, F... |
OMIM:604320 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation, Sleep abnormality, Respiratory insufficiency, Hypersomnia, Dysphagia |
ORPHA:2942 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Lethargy, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertension, Respi... |
ORPHA:79126 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Drowsiness, Increased body mass index, Broad-based gait, Increased body weight |
OMIM:614450 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Agitation |
OMIM:613870 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Tachycardia, Attention deficit hyperactivity disorder, Skin-picking, ... |
ORPHA:485405 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Impulsivity, Akinesia, Neuromuscular dysphagia, Bradykinesia, Falls, Gait imbalance |
ORPHA:240071 |
| Perry Syndrome |
|
Sleep abnormality, Central hypoventilation, Hypotension, Weight loss |
ORPHA:178509 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Akinesia, Aggressive behavior |
OMIM:300894 |
| Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion |
ORPHA:3392 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Respiratory arrest, Tachypnea, Reduced left ventricular ejection fraction, ... |
OMIM:201475 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Hypercapnia, Drowsiness, Respiratory insufficiency, Apneic episodes in infancy, Falls, Dif... |
OMIM:618222 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Congestive heart failure, Nonproductive cough,... |
ORPHA:454836 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Bradykinesia, Truncal ... |
OMIM:601338 |
| Familial Thyroid Dyshormonogenesis |
|
Lethargy, Bradycardia |
ORPHA:95716 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Coma, Excessive daytim... |
ORPHA:340 |
| Fetal Akinesia Deformation Sequence |
|
Respiratory insufficiency, Excessive daytime somnolence, Akinesia |
ORPHA:994 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation, Loss o... |
ORPHA:90647 |
| Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Bradykinesia, Gait disturbance, Dysphagia |
OMIM:606693 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Congestiv... |
ORPHA:466677 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Obesity |
OMIM:619737 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing, Dysphagia |
OMIM:128100 |
| Alexander Disease |
|
Drowsiness, Ataxia, Dysmetria |
OMIM:203450 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90037 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Attention deficit hyperactivity disorder, Hypotension, Postural hypotension with compens... |
ORPHA:369873 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Ataxia, Drowsiness, Hypsarrhythmia, Choreoathetosis, Bradykinesia, Agitation, Falls... |
ORPHA:13 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Drowsiness, Ataxia, Dysmetria |
OMIM:618384 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Ataxia, Hypertension, Gait disturbance |
ORPHA:1764 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Exertional dyspnea, Hypertrophic cardiomyopathy, Tachycardia, Dysphagia |
ORPHA:368 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Tachypnea, Small for gestational age, Pulmonary arterial hypertension |
OMIM:613320 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart failure, Lethargy |
ORPHA:49827 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia |
OMIM:304700 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ataxia, Small for gestational age, Drowsiness, Inability to walk, ... |
ORPHA:79243 |
| Congenital Myopathy 12 |
|
Respiratory insufficiency due to muscle weakness, Small for gestational age, Akinesia |
OMIM:612540 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Palpitations, Hypotension, ... |
OMIM:263800 |
| Acute Intermittent Porphyria |
|
Coma, Tachycardia, Restlessness, Excessive daytime somnolence, Respiratory insufficiency, Hyperte... |
ORPHA:79276 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, EEG with abnormally slow frequencies, Dystonic gait, Titubation, Athetosis, Difficulty wa... |
ORPHA:280219 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy, Thro... |
OMIM:618775 |
| Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
| Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Resp... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Resp... |
ORPHA:98853 |
| Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, A... |
ORPHA:90051 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Crackles, Tachypnea, ST segment depression, Hypotension, Hypocapni... |
ORPHA:466650 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Coma, Respiratory failure requiring assisted ventilati... |
ORPHA:79138 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension, Cough |
ORPHA:91547 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Valinemia |
|
Drowsiness, Failure to thrive |
OMIM:277100 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
| Joubert Syndrome |
|
Ataxia, Episodic tachypnea, Apnea, Gait disturbance, Abnormal pattern of respiration |
ORPHA:475 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Resp... |
ORPHA:98863 |
| Legionnaires Disease |
|
Pericarditis, Ataxia, Anorexia, Myocarditis, Respiratory insufficiency, Restrictive ventilatory d... |
ORPHA:549 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:98855 |
| Biotinidase Deficiency |
|
Lethargy, Tachypnea, Ataxia, Apnea |
OMIM:253260 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia |
OMIM:618249 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Nonproductive cough, Dys... |
ORPHA:97287 |
| Pyruvate Carboxylase Deficiency |
|
Coma, Failure to thrive, Ataxia, Anorexia, Excessive daytime somnolence, Tachypnea, Tip-toe gait,... |
ORPHA:3008 |
| Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Ataxia, Apnea |
ORPHA:2318 |
| Neuroleptic Malignant Syndrome |
|
Coma, Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypotension, Dysphag... |
ORPHA:94093 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Double Outlet Right Ventricle |
|
Tachycardia, Tachypnea, Heart murmur, Pulmonic stenosis, Failure to thrive |
ORPHA:3426 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia |
ORPHA:247234 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
| Poliomyelitis |
|
Coma, Respiratory failure requiring assisted ventilation, Anorexia, Abnormal motor nerve conducti... |
ORPHA:2912 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Apnea, Retinal hemorrhage, Stridor, Hypertension, Bra... |
OMIM:614653 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure, Difficulty walking, Fa... |
ORPHA:280210 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Tachycardia, Tricuspid regurgitation, Inability to walk, Congestive heart f... |
ORPHA:505248 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Tip-toe gait, Bradycardia |
ORPHA:565624 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Coma, Tachypnea, Progressive cerebellar ataxia, Lethargy, Failure to thrive, Spastic gait |
ORPHA:415 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Premature ... |
ORPHA:423 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Hypert... |
OMIM:619705 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Anorexia, Sleep abnorma... |
ORPHA:3452 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Neonatal hypotonia, Hypersomnia |
ORPHA:95715 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Exertional dyspnea |
ORPHA:90036 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage, Loss of consciousness |
ORPHA:335 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90033 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Meningococcal Meningitis |
|
Shock, Neonatal respiratory distress, Anorexia, Drowsiness, Hypotension, Reduced consciousness, L... |
ORPHA:33475 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Oculogyric crisis, Rigidity, Sleep abnormality, Drowsiness, Dystonia, Limb hyper... |
ORPHA:70594 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Infant Botulism |
|
Cardiac arrest, Anorexia, Sleep abnormality, Respiratory insufficiency due to muscle weakness, Dy... |
ORPHA:178478 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Dysphagia |
ORPHA:163961 |
| Scrub Typhus |
|
Myocarditis, Dyspnea, Restrictive ventilatory defect, Hypotension, Cough, Reduced consciousness, ... |
ORPHA:83317 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Myocarditis, Tachypnea, Capillary... |
ORPHA:36234 |
| Hereditary Coproporphyria |
|
Tachycardia, Respiratory insufficiency |
ORPHA:79273 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia |
OMIM:613327 |
| Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia, Hypotensio... |
ORPHA:319213 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Encephalitis Lethargica |
|
Lethargy, Bradycardia |
ORPHA:83600 |
| Porphyria Variegata |
|
Hypertension, Tachycardia, Coma, Respiratory paralysis |
ORPHA:79473 |
| Aceruloplasminemia |
|
Ataxia, Akinesia, Congestive heart failure, Limb ataxia, Gait ataxia |
ORPHA:48818 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysmetria, Gait ataxia, Dysphagia, Hypertension, Bradykinesia, Gait disturbance, Hypotens... |
ORPHA:93256 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Failure to thrive, Small for gestational age, Akinesia |
OMIM:619147 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Oral-pharyngeal dysphagia, Hypersomnia, Supraventricular tachycardia, Exce... |
ORPHA:273 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Episodic tachypnea |
OMIM:615160 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocytosis, Neutrop... |
OMIM:308240 |
| Alexander Disease |
|
Sleep apnea, Ataxia, Sudden cardiac death, Sleep abnormality, Respiratory insufficiency, Hyperten... |
ORPHA:58 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ataxia, Unsteady gait, Shortened PR interval, Obesity, Hypertensi... |
OMIM:614947 |
| Plague |
|
Respiratory distress, Coma, Tachycardia, Anorexia, Hematemesis, Unsteady gait, Acute infectious p... |
ORPHA:707 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Coma, Tachypnea, Hyperventilation |
OMIM:253270 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Cardiorespiratory arrest, Weight loss, Pleural effusion, Hypotension, ... |
ORPHA:188 |
| Myotonic Dystrophy 2 |
|
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction |
OMIM:602668 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Orthopnea, Congestive heart failu... |
ORPHA:980 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Melena, Bronchospasm, ... |
ORPHA:100080 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Apnea, Tongue thrusting, Cardiorespiratory arrest, Choreoathetosis, Athetosis, Hypotension, Lethargy |
OMIM:608643 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia, Hypercapnia |
OMIM:601887 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Tachycardia, Small for gestational age |
OMIM:609152 |
| Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Supraventricular tachycardia, Lethargy, Tricuspid ... |
ORPHA:97214 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
| Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Respiratory paralysis |
OMIM:176000 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small for gestationa... |
ORPHA:555874 |
| Joubert Syndrome 1 |
|
Central apnea, Hyperactivity, Ataxia, Episodic tachypnea, Aggressive behavior, Self-mutilation, N... |
OMIM:213300 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Bradycardia |
ORPHA:90673 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Akinesia, Dysphagia, Decreased body weight |
OMIM:608013 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Coma, Exc... |
ORPHA:99827 |
| Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea,... |
ORPHA:60025 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Decreased sensitivity to hypoxemia, Tachycardia |
OMIM:223900 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Raynaud phenomenon, Failure to thrive, Tachypnea, Telangiectasia |
OMIM:615934 |
| Marburg Hemorrhagic Fever |
|
Shock, Coma, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Drowsiness, Nonproductive ... |
ORPHA:99826 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dyspnea, Dilated cardiomyopathy, Aborted sudden cardiac death,... |
OMIM:614921 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Ataxia, Dilated cardiomyopathy, Respiratory insufficiency, Gait ataxia, Brad... |
ORPHA:254892 |
| Proximal Spinal Muscular Atrophy |
|
Inability to walk, Bradycardia, Difficulty walking |
ORPHA:70 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100082 |
| Joubert Syndrome 2 |
|
Central apnea, Ataxia, Episodic tachypnea, Failure to thrive, Neonatal breathing dysregulation |
OMIM:608091 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
| Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Drowsiness, Ataxia, Pneumonia |
ORPHA:309288 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Bradykinesia, Gait disturbance, Dy... |
OMIM:234200 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr... |
OMIM:115197 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Hy... |
ORPHA:86309 |
| Arima Syndrome |
|
Ataxia, Dyspnea, Tachypnea, Hypertension, Polydipsia |
OMIM:243910 |
| Migraine, Familial Hemiplegic, 2 |
|
Coma, Drowsiness, Dysmetria, Gait ataxia, Episodic ataxia |
OMIM:602481 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Orofaciodigital Syndrome Type 6 |
|
Ataxia, Episodic tachypnea, Apnea, Gait disturbance, Failure to thrive |
ORPHA:2754 |
| Arthrogryposis Multiplex Congenita 5 |
|
Restrictive ventilatory defect, Neonatal respiratory distress, Cardiac arrest, Akinesia |
OMIM:618947 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia |
ORPHA:139411 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... |
OMIM:300952 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Rh Deficiency Syndrome |
|
Hypoxemia, Tachycardia, Tachypnea |
ORPHA:71275 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Respiratory insuff... |
OMIM:232300 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension, Weight loss |
ORPHA:98849 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Weight loss |
ORPHA:71273 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Hypotensio... |
ORPHA:99828 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Bradykinesia, Falls, Gait imbalance, Dysphagia |
OMIM:609454 |
| Graft Versus Host Disease |
|
Tachycardia, Failure to thrive, Pneumonia |
ORPHA:39812 |
| Joubert Syndrome 5 |
|
Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Neonatal breathing dysregulation |
OMIM:610188 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Bradycardia |
ORPHA:90674 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Failure to thrive, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Coma, Abnormal eating behavior, Aggressive behavior, Drowsiness, Sle... |
ORPHA:247585 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Failure to thrive, Weight loss |
ORPHA:35858 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia, Normochromic anemia |
ORPHA:91355 |
| Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Polydipsia, Tachypnea, Failure to thrive |
OMIM:239200 |
| Methylcobalamin Deficiency Type Cble |
|
Excessive daytime somnolence, Drowsiness, Hypertension, Lethargy, Failure to thrive, Loss of cons... |
ORPHA:2169 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Tachypnea, Pulmonary arterial hypertension |
OMIM:613834 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Paroxysmal supraventricular tachycardia, Obstructive sleep apnea, Pulmonic stenosis |
OMIM:617877 |
| Yellow Fever |
|
Shock, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Capillary leak, Redu... |
ORPHA:99829 |
| Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Pseudobulbar paralysis, Abnormal posturing, Giant somatosensory evoked potentials |
ORPHA:268943 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Cutaneous Mastocytoma |
|
Dyspnea, Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Inability to ... |
OMIM:620066 |
| Genetic Transient Congenital Hypothyroidism |
|
Hypotonia, Hypersomnia |
ORPHA:226316 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Small for gestational age, Tachypnea, Dysmetria, Dysphagia, Hypertension, Mitral regurgit... |
OMIM:220111 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Weight loss, Melena, B... |
ORPHA:100075 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphocytosis, Hypotension, Myeloprolifer... |
ORPHA:79456 |
| Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Bradykinesia, Falls, Gait imbalance, Dysphagia |
OMIM:601104 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres... |
ORPHA:31824 |
| Sandifer Syndrome |
|
Hematemesis, Abnormal posturing |
ORPHA:71272 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Tachypnea, Failure to thrive, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
| Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Dyspnea, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Bradycardia |
OMIM:218700 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Lymphocytosis, Cardiac arrest, Eosinophilia |
ORPHA:139402 |
| Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Dysphagia, Abnormal posturing, ... |
OMIM:242840 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Failure to thrive, Cerebral hemorrhage |
OMIM:263400 |
| Double Outlet Left Ventricle |
|
Failure to thrive, Tachypnea, Systolic heart murmur, Abnormal right ventricular function |
ORPHA:3427 |
| Analbuminemia |
|
Hypotension |
OMIM:616000 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
| Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Tachypnea |
OMIM:615751 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension, Lethargy, Failure to thrive |
ORPHA:427 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Failure to thrive, Hypotension |
ORPHA:556037 |
| Bohring-Opitz Syndrome |
|
Inability to walk, Bradycardia |
ORPHA:97297 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hypotension |
OMIM:264350 |
| Mirizzi Syndrome |
|
Tachycardia, Anorexia |
ORPHA:521219 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Portal hypertension, Tachypnea, Respiratory insufficiency, Respiratory... |
OMIM:613658 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hypotension |
OMIM:203400 |
| Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Coma, Ataxia, Drowsiness, Abnormal respiratory system physiol... |
ORPHA:90062 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Failure to thrive, Hypotension |
ORPHA:556030 |
| Thyroid Ectopia |
|
Hypotonia, Hypersomnia |
ORPHA:95712 |
| Ogden Syndrome |
|
Apnea, Abnormal repetitive mannerisms, Ventricular tachycardia, Dysphagia, Premature ventricular ... |
OMIM:300855 |
| Chromosome 5Q12 Deletion Syndrome |
|
Decreased body mass index, Hypotension |
OMIM:615668 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
| Degcags Syndrome |
|
Tachycardia, Small for gestational age, Pneumonia, Oral-pharyngeal dysphagia, Asthma, Rhinitis, P... |
OMIM:619488 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Decreased forced expiratory flow 25-75%, Premature ventricular contraction |
OMIM:617072 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Bradycardia |
ORPHA:226307 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia, Neutropenia |
OMIM:617248 |
| Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Hypotension |
OMIM:267430 |
| Acute Radiation Syndrome |
|
Interstitial pneumonitis, Loss of consciousness, Hypotension, Telangiectasia |
ORPHA:454831 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Weight loss, Hypotension |
ORPHA:98850 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hypotension |
OMIM:177735 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Familial Glucocorticoid Deficiency |
|
Hypoglycemic coma, Anorexia, Weight loss, Hypotension, Hypertrophic cardiomyopathy, Failure to th... |
ORPHA:361 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypotension, Reduced consciousness, Arrhythmia, Abnormal pattern of res... |
ORPHA:428 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Hypotension, Arrhythmia, Failur... |
ORPHA:2135 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Hypotension, Dysphagia, Inspiratory stridor |
ORPHA:100050 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Failure to thrive, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion |
ORPHA:292 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:618278 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Neutropenia |
ORPHA:1667 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... |
ORPHA:100078 |
| Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Exertional dysp... |
OMIM:233450 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Anorexia, Weight loss, Hypotension, Lethargy, Failure to thrive |
ORPHA:199299 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Pulmonic stenosis |
ORPHA:3384 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia, Anemia |
ORPHA:79404 |
| Sarcoidosis |
|
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Dyspnea, Emphysema, Vent... |
ORPHA:797 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Obesity |
ORPHA:1772 |
| Acromegaly |
|
Sleep apnea, Hypersomnia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:963 |
| Somatomammotropinoma |
|
Sleep apnea, Hypersomnia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:314769 |
| Pde4D Haploinsufficiency Syndrome |
|
Obesity, Hypotension |
ORPHA:439822 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Sinus bradycardia |
OMIM:619482 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... |
ORPHA:99125 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... |
ORPHA:280365 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Salt craving, Myocardial infarction, Anorexia, Hypovolemia, Weight loss,... |
ORPHA:95409 |
| Pituitary Apoplexy |
|
Hypertension, Coma, Excessive daytime somnolence, Hypotension |
ORPHA:95613 |
| Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Anorexia, Asthma, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
| Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
| Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorr... |
ORPHA:509 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Leukopenia, Lymphocytosis, Vascu... |
ORPHA:50918 |
| Hellp Syndrome |
|
Cerebral hemorrhage, Increased body weight, Hypotension, Pleural effusion, Internal hemorrhage |
ORPHA:244242 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypoglycemic coma, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Hypotension, Failure... |
ORPHA:293978 |
| Marshall-Smith Syndrome |
|
Apnea, Obstructive sleep apnea, Premature ventricular contraction, Stridor, Hypertension, Aspirat... |
OMIM:602535 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal asphyxia, Failure to thrive, Hypotension |
ORPHA:90791 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Palpitations, H... |
ORPHA:91347 |
| Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
| Neuroocular Syndrome |
|
Sleep onset insomnia, Axial hypotonia, Obstructive sleep apnea, Hypersomnia |
OMIM:619539 |
| Cardiac-Urogenital Syndrome |
|
Tracheomalacia, Tachycardia |
OMIM:618280 |
| Lysosomal Acid Lipase Deficiency |
|
Cachexia, Hypovolemia, Weight loss, Hypotension, Pulmonary arterial hypertension, Failure to thrive |
ORPHA:275761 |
| Addison Disease |
|
Orthostatic hypotension, Salt craving, Anorexia, Weight loss, Hypotension, Failure to thrive |
ORPHA:85138 |
| Legius Syndrome |
|
Paroxysmal atrial tachycardia, Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity ... |
ORPHA:137605 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
| Prolactinoma |
|
Hypotension |
ORPHA:2965 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension |
ORPHA:289548 |
| Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hypovolemia, Weight loss, Hypotension, Hypocapnia, Failure to thrive |
ORPHA:90794 |
| Liver Disease, Severe Congenital |
|
Splenomegaly, Abnormal left ventricular function, Leukopenia, Anemia, Lymphocytosis, Systolic hea... |
OMIM:619991 |
| Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |
