| Glaucoma-Sleep Apnea Syndrome |
|
Respiratory insufficiency, Sleep apnea |
ORPHA:2085 |
| Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure, Abnormal enzyme/coenzyme activity, Respiratory f... |
ORPHA:132 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency |
OMIM:618222 |
| Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
| Parana Hard-Skin Syndrome |
|
Respiratory insufficiency |
OMIM:260530 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Respiratory insufficiency |
OMIM:617232 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Apnea |
OMIM:618235 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Congestive heart failure |
OMIM:301021 |
| Paroxysmal Extreme Pain Disorder |
|
Rhinorrhea, Tachycardia, Bradycardia |
OMIM:167400 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Cardiac arrest, Respiratory failure, N... |
ORPHA:70587 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Respira... |
OMIM:601419 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, ... |
ORPHA:90117 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Respiratory insufficiency |
OMIM:611722 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Apnea, Bradycardia, Abnormal autonomic nervous system physiology |
OMIM:614498 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Facial palsy, Respiratory insufficiency |
OMIM:617239 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distress, Restrictive v... |
OMIM:614399 |
| Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology |
OMIM:618960 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Stridor, Abnormal pattern of respiration, Apnea, Bradycardia, Cardiorespiratory arrest, Bronchospasm |
OMIM:608800 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Abnorma... |
ORPHA:45452 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... |
ORPHA:1344 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency |
OMIM:616276 |
| Myasthenic Syndrome, Congenital, 8 |
|
Facial palsy, Respiratory insufficiency |
OMIM:615120 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Bradycardia, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
OMIM:619048 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Apnea, Respiratory insufficiency |
OMIM:617290 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Apnea, Bradycardia |
OMIM:617248 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... |
ORPHA:70589 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Dyspnea, Right ventricular c... |
OMIM:610476 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Apnea |
ORPHA:99852 |
| Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension, Respiratory insufficiency |
ORPHA:3188 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Hypertension, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
| Tetanus |
|
Hypertension, Tachypnea, Tachycardia, Bradycardia, Respiratory distress, Autonomic bladder dysfun... |
ORPHA:3299 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea, Episodic hypertension |
OMIM:619483 |
| Lethal Congenital Contracture Syndrome 4 |
|
Respiratory insufficiency |
OMIM:614915 |
| Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Facial palsy |
OMIM:604801 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Apnea |
OMIM:618236 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Abnormal pattern of respiration, Cardiac arrest, Sleep apnea, Arrhythmia, Abnormal autonomic nerv... |
ORPHA:168593 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:615228 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea |
OMIM:616277 |
| Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Pulmonary arterial hypertension, Bradycardia, Elevated hepatic transami... |
OMIM:616299 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea |
OMIM:607745 |
| Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions |
ORPHA:137935 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Facial palsy |
OMIM:615348 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Respiratory insufficiency |
OMIM:614654 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency |
ORPHA:640 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
| Riboflavin Transporter Deficiency |
|
Hypertension, Optic disc pallor, Abnormal cranial nerve morphology, Respiratory insufficiency, Fa... |
ORPHA:97229 |
| Laryngeal Abductor Paralysis |
|
Respiratory insufficiency |
ORPHA:2808 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Optic atrophy, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
| Multiple System Atrophy |
|
Stridor, Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud pheno... |
ORPHA:102 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Apnea, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Central sleep apnea, Increased circulating lactate dehydrog... |
ORPHA:168486 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea |
OMIM:601764 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Respiratory insufficiency |
OMIM:617892 |
| Larynx Atresia |
|
Respiratory insufficiency |
ORPHA:1202 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, Acute infectious pneumo... |
ORPHA:264675 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:254210 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Respiratory distress, Respiratory failure, Cough |
OMIM:263000 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Congestive heart failure |
OMIM:616794 |
| Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation |
ORPHA:166063 |
| Cholesterol Pneumonia |
|
Tachypnea, Cough, Pneumonia |
OMIM:215030 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Respiratory insufficiency due to muscle weakness, Neonatal death, Abnormal anter... |
OMIM:611890 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Optic atrophy, Central hypoventilation, Apnea |
OMIM:618233 |
| Illum Syndrome |
|
Apnea, Bradycardia |
OMIM:208155 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... |
ORPHA:563 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Respiratory failure, Jaundice |
ORPHA:890 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Arrhythmia, Respiratory insufficiency |
OMIM:300696 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency |
OMIM:614462 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Multiple System Atrophy, Parkinsonian Type |
|
Stridor, Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud pheno... |
ORPHA:98933 |
| Recurrent Respiratory Papillomatosis |
|
Wheezing, Syncope, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respi... |
ORPHA:60032 |
| Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Respiratory failure, Respiratory insufficiency, Degeneration of anterior horn cells |
OMIM:600333 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hypertrophic cardiomyopathy, Optic atrophy, Dilated cardiomyopathy, Respiratory insufficiency, Re... |
OMIM:614299 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea, Cough, Pulmonary hemorrhage, Decreased DLCO, Restrictive ventilatory defect, Dyspnea |
OMIM:616414 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:605809 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Abnormal lower ... |
ORPHA:2590 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypoxemia, Pneumonia, Increased circulating procalcitonin concentration, Tachypnea, Pneumo... |
ORPHA:36238 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Right ventricular failure, Exertional dyspne... |
ORPHA:2302 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Neonatal respiratory distress, Apnea, Bradycardia |
OMIM:610015 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation, Abnormal autonomic nervous system physiology |
OMIM:617903 |
| Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Increased cir... |
ORPHA:723 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Congestive he... |
OMIM:310200 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy |
ORPHA:500545 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Respiratory insuffi... |
OMIM:605253 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Respiratory insufficiency |
OMIM:616323 |
| Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Dyspnea, Arrhythmia |
ORPHA:871 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Acute Lung Injury |
|
Shock, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Diffuse alveol... |
ORPHA:178320 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Apnea, Respiratory insufficiency |
OMIM:618226 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Respiratory insufficiency, Bradycardia, Decreased liver function, Elevated h... |
OMIM:617397 |
| Multiple System Atrophy, Cerebellar Type |
|
Stridor, Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud pheno... |
ORPHA:227510 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory failure, Neonatal death, Respiratory insufficiency |
OMIM:228940 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure |
OMIM:225753 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency |
OMIM:300717 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:618198 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Obstructive sleep apnea, Central sleep apnea, Decreased liver functi... |
ORPHA:70472 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Supraventricular tachycardia, Respiratory insufficiency |
OMIM:255100 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Tachypnea, Neonatal death, Apnea, Pulmonary arterial hypertension,... |
OMIM:265120 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Central hypoventilation, Apnea, Respiratory insufficiency |
OMIM:300673 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachycardia, Abnormal auton... |
ORPHA:369873 |
| Haddad Syndrome |
|
Aganglionic megacolon, Breathing dysregulation, Central sleep apnea, Central hypoventilation, Abn... |
ORPHA:99803 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoxemia, Aganglionic megacolon, Hypercapnia, Apnea, Decreased heart rate variability, Central h... |
OMIM:209880 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Cardiomyopathy, Arrhythmia, Respiratory insufficiency |
OMIM:612999 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Respiratory distress, Decreased circulating T4 level, Bradycardia |
ORPHA:226313 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:618225 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Apnea, Tachycardia, Respiratory insufficiency, Bradycardia |
OMIM:614653 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Reduced ejection fraction, Tachypnea, Tachycardia, Heart block, Respiratory failure, A... |
ORPHA:542323 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Apnea, Tachycardia, Episodic tachypnea, Abnormal enzyme/coenzyme activity, Asp... |
ORPHA:79264 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Supraventricular arrhyth... |
ORPHA:99105 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Facial palsy, Respiratory insufficiency |
ORPHA:370968 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cough, Abnormal autonomic nervous system physiology |
OMIM:614575 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:619386 |
| Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency |
ORPHA:2444 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Respiratory failure, Dy... |
ORPHA:352447 |
| Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Optic atrophy, Apnea |
ORPHA:255241 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171433 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Restrictive ventilatory defect, Cough, Respiratory insufficiency, Abnormal pattern of respiration |
ORPHA:724 |
| Auriculocondylar Syndrome 2 |
|
Apnea, Snoring |
OMIM:614669 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Hypoxemia, Pneumonia, Abnormal blood gas level, Vasculitis, Respiratory failure, Dyspnea, ... |
ORPHA:70578 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle w... |
ORPHA:308552 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Inspiratory stridor, Tachypnea, Decreased nerve conduction velocity, Ventilator dependence with i... |
OMIM:604320 |
| Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Hepatitis, Cough, Respiratory fa... |
ORPHA:454836 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... |
OMIM:300770 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Neonatal death, Elevated circulating as... |
OMIM:245400 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Optic atrophy, Respiratory insufficiency |
OMIM:615330 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... |
OMIM:610913 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... |
ORPHA:91359 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea |
OMIM:300864 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Myopathy, Centronuclear, X-Linked |
|
Neonatal respiratory distress, Facial palsy, Decreased liver function, Respiratory failure, Respi... |
OMIM:310400 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Apnea |
OMIM:611523 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Tachycardia, Hyperventilation |
OMIM:229700 |
| Fatal Familial Insomnia |
|
Apnea, Abnormal autonomic nervous system physiology |
OMIM:600072 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Respiratory insufficiency |
OMIM:616325 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Tachypnea, Palpitations, Elevated jugula... |
ORPHA:2041 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency |
OMIM:618243 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Stridor, Abnormal autonomic nervous system physiology |
OMIM:618049 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Respiratory insufficiency |
OMIM:618228 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Facia... |
ORPHA:70 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Tachypnea, Parasept... |
OMIM:610921 |
| Familial Dilated Cardiomyopathy |
|
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... |
ORPHA:217607 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Decreased liver function, Apnea, Elevated hepatic transaminase |
OMIM:614883 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
| Leigh Syndrome |
|
Respiratory failure, Optic atrophy, Respiratory insufficiency, Abnormal pattern of respiration |
OMIM:256000 |
| Benign Familial Neonatal Epilepsy |
|
Apnea |
ORPHA:1949 |
| Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Facial palsy, Respiratory insufficiency |
OMIM:616324 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Apnea |
OMIM:616896 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Decreased distal sensory nerve act... |
OMIM:606071 |
| Multiple Carboxylase Deficiency |
|
Optic atrophy, Decreased biotinidase level, Tachypnea, Respiratory distress, Abnormal enzyme/coen... |
ORPHA:148 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Mercury Poisoning |
|
Hypertension, Interstitial pneumonitis, Tachycardia, Respiratory distress, Respiratory failure, D... |
ORPHA:330021 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Hypertension, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough... |
ORPHA:79126 |
| Hyperekplexia 3 |
|
Apnea |
OMIM:614618 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure |
OMIM:618240 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:613954 |
| Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory failure, Hypercapnia, Respiratory insufficiency |
OMIM:267480 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Congestive heart failure, Severely redu... |
ORPHA:444013 |
| Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Facial palsy, Exertional dyspnea, Orthopnea, Reduced vital capaci... |
ORPHA:98913 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Dyspnea, Global systolic dysfunction, Respiratory insufficiency |
OMIM:606842 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal P wave, Obstructive sleep apnea, Jaw claudication, Gastroin... |
ORPHA:85443 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... |
ORPHA:99106 |
| Fabry Disease |
|
Hypertension, Angina pectoris, Myocardial infarction, Transient ischemic attack, Congestive heart... |
OMIM:301500 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Apnea, Cardiomyopathy, Inspiratory stridor |
OMIM:600721 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Apneic episodes in infancy, Increased circulating lactate dehydrogenase concentrat... |
ORPHA:35069 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Dyspnea, Ventricular tachycardia, Cardiomyopathy |
OMIM:613873 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology |
ORPHA:97355 |
| Snakebite Envenomation |
|
Intracranial hemorrhage, Epistaxis, Respiratory paralysis, Tachycardia, Cerebral ischemia, Cardio... |
ORPHA:449285 |
| 2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
| Folinic Acid-Responsive Seizures |
|
Optic atrophy, Apnea, Respiratory distress |
ORPHA:79097 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Apneic episodes in infancy, Hypertension |
OMIM:619111 |
| Myotonia, Potassium-Aggravated |
|
Apneic episodes in infancy, Stridor |
OMIM:608390 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea, Facial palsy |
OMIM:617143 |
| Joubert Syndrome 7 |
|
Tachypnea, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea |
OMIM:611560 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death |
OMIM:619334 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Respiratory insufficiency, Elevated circulating aspartate aminotransferas... |
OMIM:609015 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Respiratory insufficiency, Stillbirth |
OMIM:276950 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Pneumonia |
OMIM:601005 |
| Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... |
OMIM:618695 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea |
ORPHA:320385 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... |
ORPHA:2257 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:273730 |
| Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Facial palsy, Respiratory insufficiency |
OMIM:615959 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity |
OMIM:603689 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Optic atrophy, Apnea |
OMIM:619527 |
| Benign Familial Infantile Epilepsy |
|
Apnea |
ORPHA:306 |
| Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea |
OMIM:256030 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Hypertension, Arrhythmia, Respiratory insufficiency |
OMIM:617021 |
| Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Diffuse alveolar hemorrhage... |
ORPHA:99931 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Decreased circulating T4 level, Bradycardia |
ORPHA:95717 |
| Alg1-Cdg |
|
Decreased liver function, Respiratory failure, Cardiomyopathy |
ORPHA:79327 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Optic atrophy, Apnea |
OMIM:614969 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Resp... |
ORPHA:803 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Optic disc pallor |
OMIM:615838 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Apnea, Respiratory insufficiency, Jaundice |
OMIM:608093 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Papilledema, Bradycardia, Hyperventilation |
OMIM:618775 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Respiratory insufficiency |
ORPHA:2111 |
| Complete Atrioventricular Septal Defect |
|
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... |
ORPHA:1329 |
| Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Neonatal death, Tracheomalacia, Respiratory insufficiency |
OMIM:245650 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea |
ORPHA:71277 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Apnea, Hepatic failure |
OMIM:261680 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Tachycardia, Episodic tachypnea, Respiratory distress, Abnormal enzym... |
ORPHA:348 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Apnea, Elevated circulating ... |
ORPHA:79644 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Hypertension, Hyperinsulinemia |
ORPHA:363400 |
| Leigh Syndrome With Cardiomyopathy |
|
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiac... |
ORPHA:70474 |
| Necrotizing Enterocolitis |
|
Shock, Apnea, Bradycardia, Hypotension |
ORPHA:391673 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Respiratory failure, Neonatal respiratory distress |
OMIM:616867 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:1194 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Aganglionic megacolon, Tachycardia, Abnormal autonomic nervous system physiology |
OMIM:613870 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Tachycardia, Bradycardia, Decreased liver function, Abnor... |
ORPHA:90051 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Aortic regurgitation, Tricuspi... |
OMIM:616501 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... |
OMIM:252320 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
| Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
| Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Abnormal nerve conduction velocity, Abnormality of somatosensory evoked pote... |
ORPHA:98755 |
| Gaucher Disease, Type Ii |
|
Apnea, Recurrent aspiration pneumonia |
OMIM:230900 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Pericarditis, Abnormal respiratory system physiology, Pneumoni... |
ORPHA:449280 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormality of circulating catecholamine level, Syncope, Abnormal autono... |
ORPHA:441 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2759 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Apnea, Respiratory insufficiency |
OMIM:618886 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Respiratory insufficiency, Ventricular tachycardia, Cardiomyopathy, Hepati... |
ORPHA:159 |
| Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Chronic pulmona... |
ORPHA:439232 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Respiratory insufficiency, Facial palsy, Dyspnea, Arrhythmia |
OMIM:615084 |
| Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
| Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage |
OMIM:178550 |
| Rett Syndrome |
|
Increased serum leptin, Abnormal pattern of respiration, Abnormal autonomic nervous system physio... |
ORPHA:778 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Syncope, Palpitations, Tachycardia, Respiratory distress, Dyspnea, Arrhythmia |
ORPHA:464453 |
| Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
| Nephronophthisis 2 |
|
Respiratory failure, Hypertension, Respiratory insufficiency, Pulmonary insufficiency |
OMIM:602088 |
| Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy |
OMIM:607598 |
| Trimethylaminuria |
|
Hypertension, Recurrent pneumonia, Tachycardia |
OMIM:602079 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Bone Dysplasia, Lethal, Holmgren Type |
|
Respiratory insufficiency |
OMIM:211120 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Cough, Respiratory distr... |
OMIM:610978 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Shock, Crackles, Rhinitis, Subconjunctival hemorrhage, Fulminant hepatitis, Bradycar... |
ORPHA:319213 |
| Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
| Hypoadrenocorticism, Familial |
|
Apnea |
OMIM:240200 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Cardiomyopathy, Decreased liver function, Respiratory failure, Inc... |
ORPHA:26791 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Congest... |
ORPHA:746 |
| Neuroleptic Malignant Syndrome |
|
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Increased circulating lactate dehydr... |
ORPHA:94093 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| Myoclonus, Intractable, Neonatal |
|
Apnea |
OMIM:617235 |
| Rett Syndrome |
|
Apnea, Abnormal T-wave, Intermittent hyperventilation, Prolonged QTc interval |
OMIM:312750 |
| Porphyria Variegata |
|
Hypertension, Respiratory paralysis, Tachycardia, Abnormal enzyme/coenzyme activity, Elevated hep... |
ORPHA:79473 |
| Joubert Syndrome 3 |
|
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea |
OMIM:608629 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Pneumonia, Tachypnea, Atrioventricular block, Vent... |
ORPHA:26793 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Tachypnea, Apnea, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:606054 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Respiratory insufficiency, Elevated hepatic transamin... |
OMIM:618329 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Respiratory failure, Vasculitis |
ORPHA:83313 |
| Joubert Syndrome |
|
Aganglionic megacolon, Apnea, Abnormal pattern of respiration, Episodic tachypnea |
ORPHA:475 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Decreased liver function, Episodic tachypnea |
OMIM:615160 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Optic disc pallor, Stillbirth, Hepatic failure, Respiratory failure |
OMIM:259720 |
| Auriculocondylar Syndrome 1 |
|
Apnea, Snoring |
OMIM:602483 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Apnea, Res... |
OMIM:608836 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
| Coproporphyria, Hereditary |
|
Hypertension, Respiratory paralysis, Tachycardia, Jaundice |
OMIM:121300 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... |
ORPHA:99103 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Abnormal pattern of respiration, Episodic tachypnea |
ORPHA:3095 |
| Infantile Krabbe Disease |
|
Optic atrophy, Decreased nerve conduction velocity, Respiratory distress, Abnormal heart rate var... |
ORPHA:206436 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Myotonia Fluctuans |
|
Apnea, Stridor |
ORPHA:99734 |
| Wolfram Syndrome |
|
Optic atrophy, Central apnea, Respiratory insufficiency, Cardiomyopathy, Gastrointestinal hemorrh... |
ORPHA:3463 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Optic atrophy, Dyspnea, Respiratory distress |
ORPHA:2707 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Respiratory arrest, Ventricular tachycardia, Increased circulating lactat... |
OMIM:600649 |
| Ondine Syndrome |
|
Aganglionic megacolon, Abnormality of the autonomic nervous system, Respiratory insufficiency |
ORPHA:661 |
| Serotonin Syndrome |
|
Hypertension, Tachypnea, Abnormality of the autonomic nervous system, Tachycardia, Hepatic failur... |
ORPHA:43116 |
| Erythermalgia, Primary |
|
Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
| Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Aganglionic megacolon, Apnea |
ORPHA:2318 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Abnormal respiratory system physiology, Respiratory insuffici... |
ORPHA:133 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Facial palsy, Apnea |
OMIM:314580 |
| Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Cardiac conduction abnormality, Apnea, Cardiomyopathy, Respiratory distress, Asp... |
ORPHA:2131 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Biotinidase Deficiency |
|
Tachypnea, Optic atrophy, Decreased biotinidase level, Apnea |
OMIM:253260 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Optic atrophy |
OMIM:616505 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:613845 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Systolic heart murmur, Tachypnea, Tricuspid regurgitation, Respiratory failure, Respir... |
ORPHA:555874 |
| Congenital Tracheomalacia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... |
ORPHA:95430 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
| Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Apnea, Abnormal pattern of respiration |
ORPHA:220497 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Respiratory insufficiency, Reduced ejection fraction, Pulmonary arte... |
ORPHA:258 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Absent brainstem auditory responses |
ORPHA:3240 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Encephalitis Lethargica |
|
Bradycardia, Hyperventilation |
ORPHA:83600 |
| Familial Thyroid Dyshormonogenesis |
|
Prolonged neonatal jaundice, Decreased circulating T4 level, Bradycardia |
ORPHA:95716 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Exertional dyspnea, Right bundle branch bl... |
ORPHA:263297 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal autonomic nervous sys... |
OMIM:601559 |
| Tenorio Syndrome |
|
Syncope, Pneumonia, Apnea, Raynaud phenomenon, Hypoinsulinemia |
OMIM:616260 |
| Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171430 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Pulmonary arterial hypertension, Decreased methionine synthase activity |
OMIM:614857 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency, Left ventricular outflow tract obstructio... |
ORPHA:365 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Episodic respiratory distress... |
ORPHA:255210 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure |
OMIM:610678 |
| Variant Abeta2M Amyloidosis |
|
Reduced ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Optic atrophy, Apnea |
OMIM:617301 |
| Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, ... |
ORPHA:60025 |
| Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... |
ORPHA:244 |
| Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Apnea, Stillbirth |
OMIM:241500 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Pulmonary arterial hypertension, Congestive heart failure, Sleep apnea |
OMIM:616482 |
| Biotinidase Deficiency |
|
Optic atrophy, Optic neuropathy, Decreased biotinidase level, Apnea, Respiratory distress, Hyperv... |
ORPHA:79241 |
| 48,Xxyy Syndrome |
|
Apnea, Asthma |
ORPHA:10 |
| Cocaine Intoxication |
|
Wheezing, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachy... |
ORPHA:90068 |
| Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Tachypnea, Hypercapnia, Ventricular tachycardia, Supraventricu... |
ORPHA:423 |
| Citrullinemia Type I |
|
Tachypnea, Hepatic failure |
ORPHA:247525 |
| Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insufficiency due to defecti... |
OMIM:614874 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Apnea |
ORPHA:439218 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Sudden car... |
OMIM:201475 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
| Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
| Tracheal Agenesis |
|
Respiratory insufficiency |
ORPHA:3346 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Intracranial hemorrhage |
ORPHA:3226 |
| Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Arrhythmia |
OMIM:609286 |
| Congenital Myasthenic Syndrome |
|
Respiratory arrest, Apneic episodes precipitated by illness, fatigue, stress, Stridor, Obstructiv... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Apneic episodes precipitated by illness, fatigue, stress, Stridor, Obstructiv... |
ORPHA:98914 |
| Pontocerebellar Hypoplasia Type 2 |
|
Apnea |
ORPHA:2524 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
| Niemann-Pick Disease, Type C2 |
|
Prolonged neonatal jaundice, Respiratory failure, Low cholesterol esterification rate, Respirator... |
OMIM:607625 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Atrial fibrillation, Tachypnea, Atrioventricular block, Ventricular tachycardia, S... |
ORPHA:137675 |
| Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to d... |
OMIM:616037 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Abnormal QRS complex, Abnormality of blood circulation, Tachypnea, Tachycardia, Conges... |
ORPHA:860 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Bradycardia, Decreased nerve conduction velocity, Abnormal enzyme/coenzyme act... |
ORPHA:565624 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Tachycardia, Bradycardia, Elevated hepatic transamina... |
OMIM:613327 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea |
OMIM:300055 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Optic atrophy, Optic neuropathy, Concentric hypertrophic cardiomyopathy, ... |
OMIM:610505 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Exertional dyspnea, Dyspnea, Respiratory insufficiency |
OMIM:614370 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Apnea, Abnormal pattern of respiration |
ORPHA:220493 |
| Alexander Disease |
|
Hypertension, Respiratory insufficiency, Facial palsy, Sleep apnea, Sudden cardiac death, Hypoten... |
ORPHA:58 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Optic nerve dysplasia, Jaundice |
OMIM:214110 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Apnea |
OMIM:608809 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Respiratory failure, Pneumothorax, Cardiomyopathy |
ORPHA:445038 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure |
OMIM:614862 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Hypertension, Intracranial hemorrhage, Pneumonia, Palpitations, Subconjunctival hemorrhage... |
ORPHA:340 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Exertional dyspnea, Tachycardia |
ORPHA:90037 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal autonomic nervous ... |
OMIM:105210 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia, Hypopnea, Apnea, Hypoventilation, Restrictive ventilatory defect, Aspiration p... |
OMIM:619482 |
| Glossopharyngeal Neuralgia |
|
Syncope, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Bradycardia, Jaw ... |
ORPHA:221098 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Respiratory failure |
OMIM:617186 |
| Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Geleophysic Dysplasia 3 |
|
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea |
OMIM:617809 |
| Joubert Syndrome With Hepatic Defect |
|
Abnormal pattern of respiration, Apnea, Optic disc coloboma, Elevated hepatic transaminase, Porta... |
ORPHA:1454 |
| Pitt-Hopkins Syndrome |
|
Hyperventilation, Intermittent hyperventilation, Abnormal autonomic nervous system physiology |
OMIM:610954 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Pneumonia, Hypercap... |
ORPHA:79138 |
| Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Central apnea, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Central apnea, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Malignant Atrophic Papulosis |
|
Ischemic stroke, Telangiectasia of the skin, Myocardial infarction, Gastrointestinal hemorrhage, ... |
ORPHA:679 |
| Poliomyelitis |
|
Hypertension, Hypovolemic shock, Abnormal motor nerve conduction velocity, Respiratory failure, R... |
ORPHA:2912 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Apnea |
OMIM:618056 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Pneumonia, Facial diplegia, Facial palsy, Respiratory fai... |
ORPHA:98905 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Optic atrophy, Apneic episodes in infancy |
ORPHA:3078 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Respiratory failure, Cardiomyopathy |
ORPHA:88618 |
| Radio-Renal Syndrome |
|
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax |
ORPHA:3015 |
| Pancreatic And Cerebellar Agenesis |
|
Optic nerve hypoplasia, Apnea |
OMIM:609069 |
| Orofaciodigital Syndrome Xvi |
|
Apnea |
OMIM:617563 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:79242 |
| Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Rh Deficiency Syndrome |
|
Hypoxemia, Tachypnea, Tachycardia, Increased circulating lactate dehydrogenase concentration, Jau... |
ORPHA:71275 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Telangiectasia of... |
ORPHA:3342 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Tachypnea, Apnea, Cardiac arrest, Elevated hepatic transaminase, Hypotens... |
ORPHA:20 |
| Ethylene Glycol Poisoning |
|
Shock, Hypertension, Episodic respiratory distress, Prolonged QT interval, Abnormal pattern of re... |
ORPHA:31826 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Optic atrophy, Apnea, Abnormal enzyme/coenzyme activity |
ORPHA:395 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Tachypnea, Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... |
OMIM:169500 |
| Pyruvate Dehydrogenase Deficiency |
|
Tachypnea, Dyspnea |
ORPHA:765 |
| Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy |
ORPHA:158687 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Neonatal respiratory distress, Tachypnea, Optic nerve hypoplasia, Asthma, Abnormal... |
ORPHA:79345 |
| Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
| Mogs-Cdg |
|
Optic atrophy, Apnea, Absent brainstem auditory responses, Respiratory distress, Hypoventilation |
ORPHA:79330 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Respiratory insufficiency, Cerebral ischemia, Congestive heart failure, Righ... |
ORPHA:1880 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Apnea, Bradycardia, Obstructive sleep apnea |
ORPHA:97297 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Secondary growth hormone deficiency, Bradycardia, Decrease... |
ORPHA:91355 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Exertional dyspnea, Tachycardia, Jaundice |
ORPHA:90033 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Neonatal death, Apnea, Hepatic failure |
OMIM:608013 |
| Mucopolysaccharidosis Type 1 |
|
Sinusitis, Optic atrophy, Hypertrophic cardiomyopathy, Apnea, Cough, Congestive heart failure |
ORPHA:579 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Sinus bradycardia, Snoring, Mitral regurgitation |
OMIM:261990 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... |
ORPHA:99827 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea |
OMIM:220111 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Decreased circulating cortisol level, Abnormal autonomic ... |
OMIM:231550 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Decreased serum insulin-like growth factor 1, Elevated hepatic transamina... |
OMIM:614921 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Apnea, Cardiorespiratory arrest, Hypotension |
OMIM:608643 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... |
ORPHA:99104 |
| Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Respiratory insufficiency |
ORPHA:2119 |
| Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Decreased biotinidase level, Abnormal pattern of resp... |
ORPHA:506 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Apnea |
OMIM:602613 |
| Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... |
ORPHA:209905 |
| Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... |
ORPHA:466677 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Optic neuropathy, Optic disc... |
OMIM:252010 |
| Double Outlet Right Ventricle |
|
Tachypnea, Tachycardia, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
| Relapsing Fever |
|
Epistaxis, Cough, Tachycardia, Increased circulating lactate dehydrogenase concentration, Elevate... |
ORPHA:91547 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent aspiration pneumonia, Tachypnea, Abnormality of the optic disc, Apnea, Elevated hepatic... |
ORPHA:397715 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... |
ORPHA:99027 |
| Hydroxykynureninuria |
|
Breathing dysregulation, Tachycardia, Hypotension |
ORPHA:79155 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obstructive sleep apnea, Central hypoventilation, Hypoventilation, Cardiorespiratory arrest, Asth... |
ORPHA:293987 |
| Hermansky-Pudlak Syndrome 10 |
|
Apnea |
OMIM:617050 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Exertional dyspnea, Tachycardia |
ORPHA:90036 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure, Optic atrophy, Respiratory failure requiring assisted ventilation, Recurrent... |
ORPHA:496641 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Riddle Syndrome |
|
Telangiectasia, Pneumonia, Chronic sinusitis, Conjunctival telangiectasia, Respiratory failure, R... |
ORPHA:420741 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension |
OMIM:261740 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Stridor, Pneumonia, Pneumothorax, Bradycardia, Respiratory distress, Resp... |
ORPHA:79404 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Apnea, Respiratory insufficiency |
OMIM:617527 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
| Aortic Arch Interruption |
|
Shock, Hypertension, Systolic heart murmur, Tachypnea, Aortic regurgitation, Tricuspid regurgitat... |
ORPHA:2299 |
| Cholera |
|
Hypovolemic shock, Tachypnea, Tachycardia, Hyperventilation, Aspiration pneumonia, Hypotension |
ORPHA:173 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Hypercapnia, Tachycardia |
OMIM:601887 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Apnea, Respiratory insufficiency |
ORPHA:521426 |
| Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Jaundice, Hypovolemia,... |
ORPHA:99826 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency |
OMIM:610773 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory failure, Pneumothorax, Neonatal death, Respiratory distress |
OMIM:266910 |
| Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Prolonged QRS complex, Respiratory insufficiency, Obstructive sleep apnea... |
ORPHA:273 |
| Joubert Syndrome 2 |
|
Central apnea, Neonatal breathing dysregulation, Optic disc coloboma, Episodic tachypnea |
OMIM:608091 |
| Campomelic Dysplasia |
|
Respiratory distress, Apnea, Tracheobronchomalacia |
OMIM:114290 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Prolonged neonatal jaundice, Decreased circulating T4 level, Bradycardia |
ORPHA:90673 |
| Thymoma, Familial |
|
Respiratory insufficiency |
OMIM:274230 |
| Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Respiratory insufficiency |
OMIM:618042 |
| Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Shock, Pneumonia, Tachypnea, Hepatitis, Tachycardia, Respiratory distress... |
ORPHA:36234 |
| Arnold-Chiari Malformation Type Ii |
|
Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
| Joubert Syndrome 21 |
|
Dyspnea, Apnea |
OMIM:615636 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Abnormal autonomic nervous system physiology |
ORPHA:2483 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block |
OMIM:616812 |
| Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology |
OMIM:109150 |
| Marshall-Smith Syndrome |
|
Hypertension, Recurrent aspiration pneumonia, Obstructive sleep apnea, Apnea, Pulmonary arterial ... |
OMIM:602535 |
| Nocardiosis |
|
Productive cough, Pericarditis, Pneumonia, Pneumothorax, Respiratory distress, Nonproductive coug... |
ORPHA:31204 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea |
OMIM:619580 |
| Hyperparathyroidism, Neonatal Severe |
|
Tachypnea, Dyspnea, Elevated circulating parathyroid hormone level |
OMIM:239200 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Autonomic bladder dysfunction |
|
