| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intole... |
ORPHA:369873 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Type II diabetes mellitus, Hypertriglyceridemia, Sudden cardiac death, Hyper... |
OMIM:610947 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus |
OMIM:608320 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276580 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess... |
ORPHA:276556 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Congestive heart failure, Obesity, Type II diabetes mellitus, Hypercholestero... |
OMIM:615703 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Mental deterioration, Depression, Difficulty walking, Dysmetria, Attention deficit hyperactivity ... |
OMIM:619191 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Transient neonatal diabet... |
ORPHA:99886 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Palpitations, Type II diabetes mellitus, Increased glucagon level |
OMIM:619290 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Abnormal cranial nerve morphology, Hypertension, Aggressive behavior, Cachexia, Fac... |
ORPHA:97229 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... |
ORPHA:45452 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Memory impairment, Depression, Emotional lability, Tremor, Irritability, Cognitive... |
ORPHA:683 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity |
ORPHA:2382 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hypertriglyceridemia, Abnormal circulating hormone concentration, Hypertension,... |
ORPHA:280356 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia |
OMIM:239500 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Landau-Kleffner Syndrome |
|
Depression, Memory impairment, Gait ataxia, Emotional lability, Short attention span, Aggressive ... |
ORPHA:98818 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Intracranial Hypertension, Idiopathic |
|
Papilledema, Hypertension |
OMIM:243200 |
| Juvenile Huntington Disease |
|
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Progres... |
ORPHA:248111 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... |
ORPHA:101016 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Peripartum Cardiomyopathy |
|
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... |
ORPHA:563 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
| Glycine Encephalopathy 1 |
|
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Cardiomyopathy, Arrhythmia, Weight loss, Abnormal autonomic nervous syste... |
ORPHA:85447 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity |
OMIM:619470 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Tachycardia, Hypertension, A... |
OMIM:613870 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus, Permanent atrial fibrillatio... |
ORPHA:31825 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity |
OMIM:618090 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to concentrate,... |
OMIM:615516 |
| Optic Atrophy 16 |
|
Paroxysmal tachycardia, Temporal optic disc pallor |
OMIM:620629 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Hypertension, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left... |
OMIM:540000 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
| Meningioma |
|
Increased circulating prolactin concentration, Emotional lability, Neoplasm of the posterior pitu... |
ORPHA:2495 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Hypertension |
ORPHA:79084 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
| Mitchell Syndrome |
|
Dysphagia, Abnormal autonomic nervous system physiology |
OMIM:618960 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Central hypothyroidism, Hypo... |
ORPHA:398069 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Ataxia |
OMIM:615924 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hypertriglyceridemia, Hypertension, Decreased serum leptin, Diabetic... |
OMIM:615238 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Diabetes insipidus, Diabetes mellitus, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Narcolepsy 7 |
|
Narcolepsy, Obesity, Type II diabetes mellitus |
OMIM:614250 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism |
OMIM:619737 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Pancreatic isl... |
ORPHA:263455 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... |
ORPHA:330001 |
| Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
| Tetanus |
|
Autonomic bladder dysfunction, Dysphagia, Abnormal autonomic nervous system physiology, Bradycard... |
ORPHA:3299 |
| Caribbean Parkinsonism |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:97355 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology, Impulsivity |
ORPHA:101046 |
| Coproporphyria, Hereditary |
|
Tachycardia, Hypertension |
OMIM:121300 |
| Kleine-Levin Syndrome |
|
Transient global amnesia, Depression, Polydipsia, Confusion, Abnormal eating behavior, Sweet crav... |
ORPHA:33543 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio... |
OMIM:605373 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Transient ischemic attack, Hypertension |
OMIM:616779 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Hyperactivity, Hypertriglyceridemia, Hypertension |
ORPHA:363400 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hyperlipidemia, Hypertension, Abdominal obesity, Diabetes mellitus |
OMIM:615980 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:608600 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... |
OMIM:168000 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen... |
OMIM:613239 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus, Exaggerated startle response |
OMIM:184850 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:609425 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... |
OMIM:617885 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis |
ORPHA:382 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Dysphagia, Cardiomyopathy |
OMIM:255100 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
| Pure Autonomic Failure |
|
Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension, Abnormal autono... |
ORPHA:441 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... |
OMIM:613838 |
| Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
| Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ... |
OMIM:609152 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension |
OMIM:189800 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... |
OMIM:615954 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... |
ORPHA:90064 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... |
ORPHA:231720 |
| Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension |
OMIM:617027 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... |
OMIM:615962 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... |
OMIM:618718 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Tongue thrust... |
ORPHA:3095 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Hyperlipidemia, Supravalvular aortic stenosis, Cardi... |
ORPHA:439232 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Narcolepsy Type 1 |
|
Precocious puberty, Obesity, Restless legs, Attention deficit hyperactivity disorder, Syncope, Re... |
ORPHA:2073 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Neuromuscular dysphagia, Cardiogenic shock, Pseudobulbar paralysis, Hypop... |
ORPHA:449285 |
| Phenylketonuria |
|
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:261600 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Failure to thrive, Hyperinsulinemia, Bradycardia, Prolonged QT interval, Hype... |
OMIM:613327 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Congestive heart failure, Paroxysmal atrial tachycardia, Anorexia, Cardiac arrest,... |
ORPHA:49827 |
| Multiple System Atrophy |
|
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... |
ORPHA:102 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is... |
ORPHA:90065 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hypertension, Hypothyroidism, Hypercholesterolemia, Ab... |
ORPHA:77296 |
| Multiple System Atrophy, Cerebellar Type |
|
Orthostatic syncope, Neuromuscular dysphagia, Autonomic bladder dysfunction, Orthostatic hypotens... |
ORPHA:227510 |
| Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen... |
OMIM:201910 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... |
ORPHA:398079 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hypo... |
ORPHA:26793 |
| Multiple System Atrophy, Parkinsonian Type |
|
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... |
ORPHA:98933 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... |
OMIM:612124 |
| Gcgr-Related Hyperglucagonemia |
|
Glucagonoma, Increased glucagon level |
ORPHA:438274 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology |
ORPHA:168593 |
| 16P12.1P12.3 Triplication Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Skin-picking, Attention... |
ORPHA:485405 |
| Myotonic Dystrophy 2 |
|
Insulin insensitivity, Hypogonadism, Palpitations, Type II diabetes mellitus, Premature ventricul... |
OMIM:602668 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... |
OMIM:619827 |
| Alobar Holoprosencephaly |
|
Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp... |
ORPHA:220386 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Type II diabetes mellitus, Hypertriglyceridemia, Hypertension, Myocardial infarction |
OMIM:618620 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Premature ventricular contract... |
OMIM:212138 |
| Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
| Cardiomyopathy, Familial Hypertrophic, 30, Atrial |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension |
OMIM:620734 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... |
OMIM:615830 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Cardiac shunt, A... |
ORPHA:860 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity |
ORPHA:500180 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Polydipsia, Failure to thrive, Goiter, Puberty and gonadal disorders, Congestive ... |
ORPHA:525731 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, Waddling... |
OMIM:620445 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating... |
OMIM:231550 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Hypertension, Aggress... |
ORPHA:449291 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia |
OMIM:614498 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter |
OMIM:615770 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Hypertension |
ORPHA:1192 |
| Rett Syndrome |
|
Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand wringing, Abnormal autonom... |
ORPHA:778 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Tachycardia, Dysphagia, Optic disc pallor |
ORPHA:79264 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Palpitations, Weight loss, Hyperthyroidism, Tachycardia |
OMIM:188580 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Hypertension, Dysphagia, Cerebral ... |
ORPHA:136 |
| Fabry Disease |
|
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Delayed puberty... |
OMIM:301500 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Goiter, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic nervous sy... |
ORPHA:83601 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Truncal obe... |
OMIM:615812 |
| Tako-Tsubo Cardiomyopathy |
|
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit... |
ORPHA:66529 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response |
ORPHA:309246 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyper... |
ORPHA:403 |
| Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
| Preeclampsia |
|
Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, In... |
ORPHA:275555 |
| Timothy Syndrome |
|
Atrioventricular block, Hypoglycemia, Pulmonary arterial hypertension, Hypothyroidism, Ventricula... |
OMIM:601005 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... |
ORPHA:293987 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:1345 |
| Alexander Disease |
|
Precocious puberty, Self-injurious behavior, Hypotension, Failure to thrive, Hypertension, Hypoth... |
ORPHA:58 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors |
OMIM:619467 |
| Lessel-Kubisch Syndrome |
|
Hypogonadism, Hypertension |
OMIM:618681 |
| Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Cranial nerve compre... |
ORPHA:94080 |
| Developmental And Epileptic Encephalopathy 109 |
|
Crouch gait, Gait ataxia, Hyperactivity |
OMIM:620145 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Optic atrophy, Type II diabetes mellitus |
OMIM:604121 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... |
OMIM:171420 |
| Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... |
ORPHA:79083 |
| Familial Cervical Artery Dissection |
|
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... |
ORPHA:36382 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Serotonin Syndrome |
|
Hypotension, Abnormality of the autonomic nervous system, Tachycardia, Restlessness, Hypertension... |
ORPHA:43116 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Failure to... |
ORPHA:137675 |
| Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus, Restless legs |
ORPHA:157835 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
| Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... |
ORPHA:100924 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... |
OMIM:601493 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom... |
OMIM:103900 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Aggressive behavior, Broad-based gait, Hyperactivity |
ORPHA:457260 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Optic atrophy, Hypoglycemia, Oral-pharyngeal dysphagia, Torsade de pointes, Hypertrophic cardiomy... |
OMIM:616878 |
| Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... |
ORPHA:37553 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Thyroid adenoma, Gastrointestinal hemorrhage, Pituitary adenoma, Increased c... |
ORPHA:913 |
| Graves Disease |
|
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Polyphagia, Weig... |
OMIM:275000 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Hyperactivity, Abnormal autonomic nerv... |
ORPHA:35069 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hyperaldosteronism, Hypertension |
OMIM:605635 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... |
OMIM:612158 |
| Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Prolonged QT interval, In... |
ORPHA:251274 |
| Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
| Seckel Syndrome 10 |
|
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Congestive heart ... |
OMIM:617253 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... |
ORPHA:90793 |
| Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
| Porphyria Variegata |
|
Tachycardia, Inappropriate antidiuretic hormone secretion, Hypertension, Abnormal autonomic nervo... |
ORPHA:79473 |
| Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... |
ORPHA:85443 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
| Erythermalgia, Primary |
|
Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
| Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... |
ORPHA:3287 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
OMIM:102200 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... |
ORPHA:263297 |
| Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... |
OMIM:604169 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope |
OMIM:192445 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... |
ORPHA:231625 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Hyperlysinemia, Type I |
|
Short attention span, Dysdiadochokinesis, Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... |
OMIM:613424 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... |
OMIM:169500 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... |
OMIM:616201 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Syncope, Raynaud phenomenon, Hypoglycemia |
OMIM:616260 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... |
OMIM:610042 |
| X-Linked Adrenoleukodystrophy |
|
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, H... |
ORPHA:43 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int... |
ORPHA:404 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r... |
ORPHA:320 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, A... |
ORPHA:168491 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
| Wolfram Syndrome |
|
Optic atrophy, Male hypogonadism, Gastrointestinal hemorrhage, Polydipsia, Cardiomyopathy, Hypogo... |
ORPHA:3463 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... |
OMIM:219090 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Second degree atrioventricular block, Polydipsia, Hyperaldosteronism, Adrenal hyperpla... |
ORPHA:369929 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia |
OMIM:603278 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hypertrigly... |
ORPHA:79085 |
| Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Polydipsia, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hype... |
ORPHA:231580 |
| Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Palpitations, Syncope |
ORPHA:464453 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
OMIM:256800 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Autonomic bladder dysfunction, Hypogonadotropic hypogonadism, Delayed puberty, Dys... |
ORPHA:447896 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopathy, Hyperinsulinemia, Abnorm... |
ORPHA:79086 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... |
ORPHA:90795 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... |
OMIM:608643 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Hypertension, Hypothyroidism, Abnormal autonomic nervous system physiology, Compulsi... |
ORPHA:93256 |
| Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension, Motor stereotypy |
ORPHA:79155 |
| Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Hypoglycemia, Decreased serum insulin-like ... |
OMIM:614921 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Hypertension, Arrhythmia, Abnormal autonomi... |
ORPHA:94093 |
| Solitary Fibrous Tumor |
|
Hypoinsulinemia, Weight loss, Hypoglycemia, Recurrent hypoglycemia |
ORPHA:2126 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Fa... |
ORPHA:1329 |
| Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
| Stiff Skin Syndrome |
|
Hypertension, Type II diabetes mellitus |
ORPHA:2833 |
| Mercury Poisoning |
|
Tachycardia, Hypotension, Hypertension, Anorexia |
ORPHA:330021 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
| Naxos Disease |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... |
ORPHA:34217 |
| Liddle Syndrome |
|
Arrhythmia, Cerebral ischemia, Hypertension |
ORPHA:526 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Bruxism, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Agitation |
OMIM:617903 |
| Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Hypertension, Ischemic stroke, Dysphagia, Raynaud phenomenon |
OMIM:615750 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypotension, Hypertension |
OMIM:611489 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro... |
OMIM:300845 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Mental deterioration, Low frustration tolerance, Self-mutilation, Stere... |
ORPHA:163681 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
| Alopecia Universalis |
|
Type I diabetes mellitus, Abnormality of the thyroid gland, Hypertension |
ORPHA:701 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Oral-pharyngeal dysphagia, Cardiomyopathy, Abnormal T-wave, Cardiac conduction... |
ORPHA:2131 |
| Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Ischemic stroke, D... |
ORPHA:280679 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... |
OMIM:620242 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... |
ORPHA:542323 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Vestibular areflexia, Abnormal autonomic nervous... |
OMIM:614575 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Abnormal autonomic nervous system physiology |
OMIM:300894 |
| Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H... |
ORPHA:466677 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh... |
ORPHA:139411 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Paroxysmal atrial fibrillation, Ventricular tachycardia, Failure to thrive, Paroxysmal atrial tac... |
OMIM:613205 |
| Lead Poisoning |
|
Decreased circulating osteocalcin level, Abnormality of the autonomic nervous system, Attention d... |
ORPHA:330015 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... |
OMIM:617600 |
| Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
| Renal Nutcracker Syndrome |
|
Syncope, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Tach... |
ORPHA:71273 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiomyopathy, Hypoketotic hypoglycemia, Arrhythmia, Ventricular tachycardia, Fasti... |
ORPHA:159 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypertension |
OMIM:613677 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Sneddon Syndrome |
|
Ischemic stroke, Hypertension, Facial palsy, Cerebral hemorrhage |
OMIM:182410 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... |
ORPHA:98794 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Fatal Familial Insomnia |
|
Weight loss, Dysphagia, Abnormal autonomic nervous system physiology |
OMIM:600072 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive |
OMIM:616069 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Raynaud phenomenon |
ORPHA:401945 |
| Nelson Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... |
ORPHA:199244 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Stereotypical body rocking, Unsteady gait, Tongue thrusting, Hyperactivity, Ata... |
OMIM:617865 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... |
ORPHA:2298 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal autonomic nervous system physiology, Vestibular nystagmus |
ORPHA:282166 |
| Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... |
OMIM:613507 |
| High Altitude Pulmonary Edema |
|
Tachycardia, Anorexia |
ORPHA:330012 |
| Alexander Disease Type Ii |
|
Dysphagia, Abnormal autonomic nervous system physiology |
ORPHA:363722 |
| Senior-Loken Syndrome |
|
Hypertension |
ORPHA:3156 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure |
ORPHA:1349 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... |
OMIM:613873 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Neoplasm of the adrenal gland, Hy... |
ORPHA:251992 |
| Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Failure to thrive, Goiter |
OMIM:231690 |
| Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Addictive alcohol use, Prolonged QT interval, Atria... |
ORPHA:31826 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... |
OMIM:611705 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Depression, Exaggerated startle response |
OMIM:620114 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Hypoglycemia |
OMIM:229700 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto... |
OMIM:115310 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia |
ORPHA:368 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... |
OMIM:171300 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Hypoglycemia, Hyperglycemia, Oral aversion, Weight loss, Anorexia, Hypertension, Agi... |
ORPHA:134 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Mental deterioration, Gait ataxia, Emotional lability, Dysmetria, Short attention span, Hyperacti... |
OMIM:610217 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
| Pituitary Apoplexy |
|
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... |
ORPHA:95613 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Tachycardia, Neonatal hypoglycemia, Fasting hypoglycemia |
ORPHA:348 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Failure to thrive in infancy, Tachycardia |
ORPHA:264675 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... |
OMIM:601214 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Mental deterioration, Memory impairment, Difficulty walking, Inability to walk, Confusion, Short ... |
ORPHA:139396 |
| Haddad Syndrome |
|
Aganglionic megacolon, Small for gestational age, Failure to thrive, Abnormal autonomic nervous s... |
ORPHA:99803 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
| Amyloidosis, Hereditary Systemic 1 |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
OMIM:105210 |
| Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Hypercholesterolemia, Overweight, Hypertension, Diabetes mellitus |
ORPHA:69663 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Small for gestational age |
OMIM:616733 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart failure, Cranial nerve compres... |
ORPHA:276621 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating renin level, Decreased circulating aldosterone level, Hy... |
OMIM:218030 |
| Spinal Cord Injury |
|
Abnormal autonomic nervous system physiology, Allodynia |
ORPHA:90058 |
| Danon Disease |
|
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... |
OMIM:300257 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
