| Obesity Due To Sim1 Deficiency |
|
Obesity, Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder, ... |
ORPHA:369873 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system physiology... |
ORPHA:85447 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Cachexia, Aggressive behavior, Hypertension, Abnormal autonomic ... |
ORPHA:97229 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:618960 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Flexion contracture, Interphalangeal thumb joint contracture,... |
OMIM:613870 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... |
ORPHA:330001 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
| Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder |
OMIM:617935 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology, Impulsivity |
ORPHA:101046 |
| Multiple System Atrophy, Cerebellar Type |
|
Raynaud phenomenon, Neuromuscular dysphagia, Orthostatic syncope, Abnormal autonomic nervous syst... |
ORPHA:227510 |
| Multiple System Atrophy |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:102 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Congenital Myopathy 8 |
|
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior |
ORPHA:329284 |
| Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:98933 |
| Tetanus |
|
Tachycardia, Dysphagia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, ... |
ORPHA:3299 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea |
ORPHA:615 |
| Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... |
ORPHA:3092 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology |
ORPHA:441 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest |
ORPHA:168593 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Respiratory arrest, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:600649 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut... |
OMIM:169500 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia, Joint ... |
OMIM:614498 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Weight loss, Reduced left ventricula... |
ORPHA:85443 |
| Fatal Familial Insomnia |
|
Weight loss, Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:600072 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Melena, Palpitations, ... |
ORPHA:100080 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictiv... |
ORPHA:99931 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Abnormal autonomic nervous system physiology, Postural hypotensi... |
OMIM:256800 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Impulsivity, Flexion contracture, Optic atrophy, Abnormal autonomic nervous system... |
ORPHA:35069 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... |
OMIM:243180 |
| Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Recurrent hand flapping, Agitation, Abnormal autonomic nervous system physiology, Bruxism |
OMIM:617903 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocard... |
OMIM:212140 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, ... |
OMIM:115197 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
| Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
| Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology, Palpitations |
OMIM:133020 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Haddad Syndrome |
|
Small for gestational age, Failure to thrive, Aganglionic megacolon, Abnormal autonomic nervous s... |
ORPHA:99803 |
| 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 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly |
OMIM:614702 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Nephrotic syndrome, Cardiomegaly |
OMIM:269920 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Analbuminemia |
|
Lipodystrophy, Hypotension |
OMIM:616000 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Rett Syndrome |
|
Agitation, Abnormal autonomic nervous system physiology, Failure to thrive, Abnormal repetitive m... |
ORPHA:778 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... |
ORPHA:439 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... |
ORPHA:95430 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... |
ORPHA:449285 |
| Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology, Dysphagia |
ORPHA:363722 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Failure to thrive, Hypotension |
ORPHA:556037 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology, Aggressive behavior |
OMIM:300894 |
| Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Abnormal autonomic nervous system phy... |
ORPHA:71273 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Apnea, Cardiomegaly, Respiratory insufficiency, Acute kidney injury |
OMIM:618886 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Tachypnea, Res... |
OMIM:201475 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsi... |
ORPHA:2131 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Pulmonary arterial hypertension, Tetralogy of... |
OMIM:601005 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Dysphagia, Hypertension, Abnormal autonomic nervous system physiology, Compulsive behaviors, Hypo... |
ORPHA:93256 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Palpitations, Facial t... |
ORPHA:97287 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Failure to thrive, Hypotension |
ORPHA:556030 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
| Alexander Disease |
|
Facial palsy, Sudden cardiac death, Hypertension, Self-injurious behavior, Abnormal autonomic ner... |
ORPHA:58 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exerti... |
ORPHA:42 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomeg... |
ORPHA:308552 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion |
OMIM:235200 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:97355 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Hypertrophic ... |
OMIM:616897 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Multiple joint contractures, Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
| Porphyria Variegata |
|
Hypertension, Tachycardia, Scarring, Abnormal autonomic nervous system physiology |
ORPHA:79473 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Autonomic bladder dysfunction, Dysphagia |
ORPHA:447896 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Dysphagia, Hypertension, Agitation, Bradycardia, Hypotension, Ab... |
ORPHA:94093 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
| Young-Onset Parkinson Disease |
|
Restless legs, Agitation, Abnormal autonomic nervous system physiology, Impulsivity |
ORPHA:2828 |
| Familial Aortic Dissection |
|
Paroxysmal dyspnea, Cardiomegaly, Exertional dyspnea |
ORPHA:229 |
| Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Weight loss, Melena, P... |
ORPHA:100075 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Restri... |
OMIM:310200 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:231550 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... |
OMIM:306955 |
| Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hypotension |
OMIM:203400 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Failure to thrive, Cerebral hemorrhage |
OMIM:263400 |
| Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:109150 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hypotension |
OMIM:264350 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Flexion contracture, Abnormal auton... |
ORPHA:99027 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Cardiome... |
ORPHA:228308 |
| Infant Botulism |
|
Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Neonatal respiratory distress, Ureteral duplication, Apnea, Renal insufficiency, Lo... |
OMIM:608836 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decreased body weight, Sever... |
ORPHA:1051 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Hypertension, Agitation, Hypotension, Abnormality of the autonomic ner... |
ORPHA:43116 |
| Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:168600 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Cardiomegaly |
OMIM:613320 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, Cardiomegaly, Hepatosplenomegaly, Atr... |
ORPHA:79330 |
| Hydroxykynureninuria |
|
Tachycardia, Abnormal repetitive mannerisms, Hypotension |
ORPHA:79155 |
| Perry Syndrome |
|
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency |
OMIM:168605 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Failure to thrive, Hypovolemia, Hypotension |
ORPHA:427 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology |
OMIM:614575 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... |
ORPHA:314655 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hypotension |
OMIM:177735 |
| Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly |
ORPHA:391428 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hypoxemia, Hematuria |
OMIM:603903 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Weight loss, Hypertension, Agitation, Hypotension, Oral aversion |
ORPHA:134 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Cardiomegaly, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Abnor... |
ORPHA:980 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal autonomic nervous system physiology, Dysphagia, Abnormal cranial nerve morphology |
ORPHA:247234 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Weight loss, Hypotension, Arrhythmia |
ORPHA:188 |
| Meningococcal Meningitis |
|
Shock, Papilledema, Hypotension, Anorexia |
ORPHA:33475 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension, Anorexia |
ORPHA:330021 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... |
OMIM:261740 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Respiratory insufficiency due to muscle weaknes... |
OMIM:232300 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Cachexia, Myocarditis... |
ORPHA:3452 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Elevated pulmonary artery pressure, Left ven... |
ORPHA:57777 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ventricular tachycardia, Palpitations, Hypotension, Polydips... |
OMIM:263800 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Weight loss, Hypotension |
ORPHA:98850 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Optic atrophy, Cardiomyopathy, Abnormal autonomic nervous system phy... |
ORPHA:3463 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal repetitive mannerisms, Abnormal autonomic nervous system physiology |
ORPHA:300570 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... |
ORPHA:2388 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dyspnea, Dilated cardiomyopathy, Pulmonary... |
OMIM:614921 |
| Parkinsonian-Pyramidal Syndrome |
|
Abnormal autonomic nervous system physiology, Dysphagia |
ORPHA:171695 |
| Trisomy 20P |
|
Inguinal hernia, Camptodactyly of finger, Abnormal autonomic nervous system physiology, Hernia, U... |
ORPHA:261318 |
| Chromosome 5Q12 Deletion Syndrome |
|
Decreased body mass index, Hypotension |
OMIM:615668 |
| Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
| Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Dysphagia, Contracture of the proximal interphalangeal joint of the 5t... |
OMIM:601559 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, Agitation, Abnormal autonomic n... |
ORPHA:217253 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Salt craving, Myocardial infarction, Anorexia, Hypovolemia, Weight loss,... |
ORPHA:95409 |
| Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Anorexia, Hypertension, Hypovolemic shock, Agitation, H... |
ORPHA:2912 |
| Legionnaires Disease |
|
Pericarditis, Anorexia, Myocarditis, Hypotension, Cellulitis, Arrhythmia |
ORPHA:549 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Respiratory failure, Cardiomegaly |
ORPHA:158687 |
| Familial Glucocorticoid Deficiency |
|
Anorexia, Weight loss, Hypotension, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:361 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Failure to thrive, Abnormal autonomic nervous system physiology, Bruxism |
ORPHA:453499 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Decreased heart rate variabi... |
OMIM:209880 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Optic atrophy, Hypotension, Arrhythmia, Fail... |
ORPHA:2135 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Anorexia, Weight loss, Hypotension, Failure to thrive |
ORPHA:199299 |
| Tick-Borne Encephalitis |
|
Facial palsy, Anorexia, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous sy... |
ORPHA:297 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:608013 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Bradycardia, Hypotension |
ORPHA:391673 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Limb joint contracture, Small for gestational age, Decreased resting energy ex... |
ORPHA:404454 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension |
ORPHA:99828 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Addictive alcohol use, Hypotension |
ORPHA:36238 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system... |
ORPHA:139417 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Pleural effusion, Atrial septal di... |
ORPHA:1677 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... |
ORPHA:100078 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Hypotension, Obesity |
ORPHA:439822 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to mus... |
ORPHA:365 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Abnormal autonomic nervous system physiolo... |
ORPHA:293987 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory insufficiency, Hepato... |
OMIM:618278 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... |
ORPHA:3384 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Upper airway obstru... |
ORPHA:581 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Anorexia, Dilated cardiomyopathy, Weight loss, Hypotension |
ORPHA:20 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Renal cyst, Cough |
ORPHA:137675 |
| Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
| Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
| Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased body weight |
ORPHA:90051 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Hepatomegaly |
OMIM:606056 |
| Addison Disease |
|
Orthostatic hypotension, Salt craving, Anorexia, Weight loss, Hypotension, Failure to thrive |
ORPHA:85138 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria |
OMIM:230000 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea |
ORPHA:91387 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Apnea, Left atrial enlargement, Bicuspid aortic valve, Cardiomegaly, S... |
OMIM:300855 |
| Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Fasciitis, Myocarditis, Capillary leak, Hypotension, Cellulitis |
ORPHA:36234 |
| Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Hypotension |
ORPHA:292 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation |
OMIM:620275 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia |
ORPHA:319213 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Mucopolysacchariduria, Hypertrophi... |
OMIM:252500 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Tongue thrusting, Hypotension |
OMIM:608643 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hemoperit... |
ORPHA:99827 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension, Weight loss |
ORPHA:98849 |
| Bohring-Opitz Syndrome |
|
Urinary retention, Abnormal cardiac septum morphology, Apnea, Cardiomegaly |
ORPHA:97297 |
| Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Tropical Endomyocardial Fibrosis |
|
Orthopnea, Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly,... |
ORPHA:75565 |
| Hellp Syndrome |
|
Cerebral hemorrhage, Increased body weight, Internal hemorrhage, Hypotension |
ORPHA:244242 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation |
OMIM:620155 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, Recurrent pneumonia |
OMIM:618493 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Optic atrophy, Hypotension |
ORPHA:428 |
| Hereditary Angioedema Type 1 |
|
Hypotension, Dysphagia |
ORPHA:100050 |
| Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hypotension |
ORPHA:90791 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio... |
OMIM:619482 |
| Non-Functioning Pituitary Adenoma |
|
Increased intraabdominal fat, Hypotension |
ORPHA:91349 |
| Abetalipoproteinemia |
|
Hepatomegaly, Respiratory failure, Cardiomegaly |
ORPHA:14 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Knee flexion contracture... |
ORPHA:3206 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Spontaneous pneumothorax, Splenomegaly, Recurrent pneumonia... |
ORPHA:731 |
| Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Leprosy |
|
Abnormality of the seventh cranial nerve, Epistaxis, Abnormal autonomic nervous system physiology |
ORPHA:548 |
| Lysosomal Acid Lipase Deficiency |
|
Cachexia, Hypovolemia, Weight loss, Hypotension, Pulmonary arterial hypertension, Failure to thrive |
ORPHA:275761 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... |
OMIM:619991 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Bicuspid aortic valve, Ventricular septal defect, Breathing dysregulation... |
ORPHA:438213 |
| Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
| Leptospirosis |
|
Papilledema, Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Sub... |
ORPHA:509 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
| Prader-Willi Syndrome |
|
Hypoventilation, Micropenis |
OMIM:176270 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Palpitations, H... |
ORPHA:91347 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ... |
ORPHA:3472 |
| Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Hypovolemia, Capillary leak, Sub... |
ORPHA:99826 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Vesicoureteral reflux... |
ORPHA:904 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation, Hepatomegaly, Aciduria, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Trac... |
OMIM:203700 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Hypotension |
ORPHA:293978 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly |
ORPHA:51 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension |
ORPHA:168558 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effus... |
ORPHA:51608 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension |
ORPHA:289548 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:99949 |
| Prolactinoma |
|
Hypotension |
ORPHA:2965 |
| Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Recurrent sinusitis, Cardiomegaly |
OMIM:256040 |
| Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Agitation, Hypotension |
ORPHA:90062 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hypovolemia, Weight loss, Hypotension, Failure to thrive |
ORPHA:90794 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Aortic valve stenosis, Subv... |
OMIM:182250 |
| Plague |
|
Tachycardia, Anorexia, Hematemesis, Hypotension, Arrhythmia |
ORPHA:707 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Hypotension |
ORPHA:95494 |
| Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
