Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language |
|
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:620038 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Hypertrigl... |
OMIM:610947 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Abnormal autonomic nervous system physiology, Hypotension,... |
ORPHA:369873 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... |
OMIM:619191 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... |
ORPHA:324575 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Falls, Motor deterioration, Shuffling... |
ORPHA:412066 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276580 |
Mahvash Disease |
|
Increased glucagon level, Type II diabetes mellitus, Palpitations, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619639 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276575 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Hypertriglyceridemia, Myocardial infarction, Hypercholesterolemia, Ins... |
OMIM:615703 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety |
OMIM:118700 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... |
ORPHA:276608 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Spinocerebellar Ataxia 14 |
|
Progressive cerebellar ataxia, Dysmetria, Depression, Mental deterioration, Memory impairment, Ga... |
OMIM:605361 |
Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus, Obesity |
OMIM:614250 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia |
ORPHA:36899 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia |
OMIM:615483 |
Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Aggressive behavior, Unsteady gait, Dementia |
OMIM:603218 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Maternal diabetes, ... |
ORPHA:45452 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Abnormality o... |
ORPHA:79299 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... |
ORPHA:66628 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Mental deterioration, Falls, Aggressive behavior, Personality disorder |
ORPHA:2382 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... |
ORPHA:179494 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Impulsivity, Hyperactivity |
OMIM:617113 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... |
ORPHA:98818 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Riboflavin Transporter Deficiency |
|
Abnormal autonomic nervous system physiology, Cachexia, Optic disc pallor, Abnormal cranial nerve... |
ORPHA:97229 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... |
ORPHA:248111 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... |
ORPHA:3077 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Intracranial Hypertension, Idiopathic |
|
Papilledema, Hypertension |
OMIM:243200 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Left bundle branch block, ... |
ORPHA:563 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:604317 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Abnormal autonomic nervous system physiology, Sudden cardiac... |
ORPHA:101016 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior |
OMIM:619970 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Aggressive behavior |
OMIM:619470 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension, Abnormal autonomic nervous system physiology |
OMIM:156310 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hypertension, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity, Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity, Hypertension |
OMIM:605572 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Cognitive impairment, Memory impairment, Tremor, Dysphagia, Abnormal synaptic tran... |
ORPHA:683 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive hear... |
ORPHA:225 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Arrhythmia, Weight loss, Cardiomyopathy, Atrioventr... |
ORPHA:85447 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hypertension |
OMIM:613877 |
Meningioma |
|
Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hypothalamus ... |
ORPHA:2495 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Diabetes mellitus... |
OMIM:540000 |
Glycine Encephalopathy |
|
Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria |
OMIM:618090 |
Gcgr-Related Hyperglucagonemia |
|
Glucagonoma, Increased glucagon level |
ORPHA:438274 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:309548 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Hypertriglyceridemia, Insulin-res... |
OMIM:604367 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior |
ORPHA:382 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Preeclampsia |
|
Small for gestational age, Elevated systolic blood pressure, Increased body mass index, Type I di... |
ORPHA:275555 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Diabetes insipidus, Abnormal autonomic nervous system physiology, Diabetes mellitus |
OMIM:598500 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology |
OMIM:617935 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased serum leptin, Hypertriglyceridemia, Hypertension, Decreased adip... |
OMIM:615238 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hyperactivity, Hypertriglyceridemia, Insulin resistance, Hypertension |
ORPHA:363400 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Hyperlipidemia, Type II diabetes mellitus, Cerebral hemorrhage, In... |
ORPHA:31825 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Diabetes mellitus, Insulin resistance, Hypertension |
OMIM:615980 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Skin-picking, Precocious puberty, Type II diabetes mellitus, Small pituitary gland, Cognitive imp... |
ORPHA:398069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertension |
OMIM:608600 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Tachycardia, Optic disc pallor, Obesity, Hyperglycemia |
OMIM:619737 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:605373 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:168000 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Wild Type Attr Amyloidosis |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:330001 |
Caribbean Parkinsonism |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:97355 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Glycosuri... |
ORPHA:263455 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Hypertension, Transient ischemic attack, Lacunar stroke |
OMIM:616779 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hyperactivity, Small for gestational age |
ORPHA:85288 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... |
ORPHA:552 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... |
ORPHA:85451 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia |
OMIM:614498 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology, Abnormality of ci... |
ORPHA:441 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Tetanus |
|
Abnormal autonomic nervous system physiology, Tachycardia, Autonomic bladder dysfunction, Hyperte... |
ORPHA:3299 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior |
OMIM:612716 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... |
ORPHA:913 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation |
OMIM:615516 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:271980 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... |
OMIM:617182 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
Preeclampsia/Eclampsia 1 |
|
Hypertension |
OMIM:189800 |
Cln5 Disease |
|
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, An... |
ORPHA:228360 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Paroxysmal bursts of laughter |
OMIM:618718 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... |
OMIM:619827 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... |
ORPHA:439232 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Ataxia, Hyperactivity |
OMIM:615924 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Exaggerated startle response, Diabetes mellitus |
OMIM:184850 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... |
ORPHA:231720 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypertension, Hypothyroidi... |
ORPHA:77296 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Skin-picking, Precocious puberty, Type II diabetes mellitus, Small pituitary gland, Hypogonadotro... |
ORPHA:398079 |
Multiple System Atrophy |
|
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... |
ORPHA:102 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Hypoketotic hypoglycemia, Tachycardia, Arrhythmia, Prolonged QT interv... |
ORPHA:26793 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant diabetes mellitus... |
ORPHA:79085 |
Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait |
OMIM:617865 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Depression, Anxiety, Aggre... |
ORPHA:485350 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Hypoglycemia, Ventricular tachycardia, Neonatal h... |
OMIM:212138 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology |
ORPHA:168593 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability |
ORPHA:3198 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Tachycardia, Hypertriglyceridemia, Insulin resistance, Atria... |
OMIM:613327 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... |
ORPHA:309246 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... |
OMIM:252320 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Premature ventricular contraction, Palpitations, Tachycardia, Insulin ... |
OMIM:602668 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Hypertens... |
OMIM:171400 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Hypertriglyceridemia, Myocardial infarction, Obesity, Hypertension |
OMIM:618620 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Cardiac shunt, Left ventricular outflow tract obstruction, Small for gestation... |
ORPHA:860 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Multiple System Atrophy, Parkinsonian Type |
|
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... |
ORPHA:98933 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Palpitations, Tachycardia, Weight loss, Goiter |
OMIM:188580 |
Fabry Disease |
|
Angina pectoris, Abnormal autonomic nervous system physiology, Arrhythmia, Myocardial infarction,... |
OMIM:301500 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Aggressive behavior |
ORPHA:500180 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension, Type I diabetes mellitus, Anterior hypopituitarism |
ORPHA:181 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hypothyroidism, Hashimoto thyr... |
ORPHA:83601 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Tachycardia, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit... |
ORPHA:35878 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Optic atrophy, Diabetes mellitus, Cardiac arrest, Congestive heart... |
ORPHA:49827 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Cerebral ischemia, Syncope, Hypothyroidism, Myocardia... |
ORPHA:90065 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death |
OMIM:615770 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy, Narcolepsy |
OMIM:604121 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder |
OMIM:619927 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia |
OMIM:603278 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Type I diabetes mellitus |
ORPHA:1192 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:1345 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... |
ORPHA:2298 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189427 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... |
OMIM:171420 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism |
OMIM:603373 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Decreased ... |
OMIM:231550 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Potocki-Shaffer Syndrome |
|
Hypothyroidism, Hypertension, Delayed puberty |
ORPHA:52022 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth ... |
ORPHA:293987 |
16P12.1P12.3 Triplication Syndrome |
|
Failure to thrive, Hyperactivity, Decreased response to growth hormone stimulation test, Tachycar... |
ORPHA:485405 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia |
OMIM:616398 |
Multiple System Atrophy, Cerebellar Type |
|
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... |
ORPHA:227510 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Decreased serum leptin, Hypogonadism |
OMIM:614962 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Graves disease, Hyperactivity, Sinus tachycardia, Increased circulating free T... |
ORPHA:525731 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Diabetes mellitus, ... |
ORPHA:79083 |
Rasmussen Subacute Encephalitis |
|
Inability to walk, Hyperactivity, Cognitive impairment, Memory impairment, Attention deficit hype... |
ORPHA:1929 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
X-Linked Adrenoleukodystrophy |
|
Inappropriate sexual behavior, Hyperactivity, Cognitive impairment, Gait disturbance, Disinhibiti... |
ORPHA:43 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronis... |
OMIM:103900 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Tachycardia, Weight loss, Goiter |
OMIM:613239 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... |
OMIM:612124 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior |
ORPHA:101039 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cranial nerve com... |
ORPHA:94080 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Jun... |
ORPHA:137675 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189439 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebral ische... |
ORPHA:36382 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Hypertension, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Pulmonary arterial hypertension, Hypertension |
OMIM:605711 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant diabetes mellitus... |
ORPHA:435651 |
Primary Lipodystrophy |
|
Angina pectoris, Hyperlipidemia, Type II diabetes mellitus, Insulin resistance, Hypertension, Car... |
ORPHA:90970 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant diabetes mellitus... |
ORPHA:435660 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... |
OMIM:612158 |
Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... |
OMIM:219080 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... |
OMIM:108770 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Lacunar stroke, Diabetes mellitu... |
ORPHA:136 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Hypertension |
OMIM:615962 |
Erythermalgia, Primary |
|
Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertension, Epistaxis... |
ORPHA:403 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmona... |
ORPHA:217607 |
Porphyria Variegata |
|
Hypertension, Tachycardia, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervo... |
ORPHA:79473 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertension, Epistaxis... |
ORPHA:404 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Impaired glucose... |
OMIM:617253 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Optic atrophy, Hypogonadism, Obesity |
ORPHA:791 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... |
OMIM:613424 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia |
ORPHA:79264 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Neoplasm of the adrenal gland, Increased circulating cortisol level, Palpitation... |
ORPHA:231625 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Hypertension |
OMIM:616069 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hypertriglyceridemia, Abnormal cardiovascular system physiology, Insulin-resist... |
ORPHA:79086 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Hyperactivity, Mental deterioration, Anxiety, Gait disturbance, Low fr... |
ORPHA:168491 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Premature thelarche, Prolonged QTc interval, Optic atrophy, Hypoglycemia, Pre... |
OMIM:616878 |
Alexander Disease |
|
Failure to thrive, Precocious puberty, Abnormal autonomic nervous system physiology, Sudden cardi... |
ORPHA:58 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
Alobar Holoprosencephaly |
|
Abnormality of the endocrine system, Apathy, Decreased response to growth hormone stimulation tes... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormality of the endocrine system, Apathy, Decreased response to growth hormone stimulation tes... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormality of the endocrine system, Apathy, Decreased response to growth hormone stimulation tes... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormality of the endocrine system, Apathy, Decreased response to growth hormone stimulation tes... |
ORPHA:220386 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Arrhythmia |
OMIM:617021 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Happy demeanor, Ataxia, Hyperactivity, Gait disturbance, Inappropriate laughter |
OMIM:614104 |
Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Hypertension... |
ORPHA:251274 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Decreased circulating cortisol level, Pre... |
ORPHA:90795 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Abnormal P wave, Abnormal autonomic nervous system physiology, Ja... |
ORPHA:85443 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Hyperactivity, Aggressive behavior |
OMIM:300958 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal autonomic nervous ... |
OMIM:105210 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic ... |
ORPHA:1329 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Rett Syndrome |
|
Failure to thrive, Increased serum leptin, Abnormal autonomic nervous system physiology |
ORPHA:778 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Vasculitis, Cerebral ischemia, Myocardial infarction, Hypertensive c... |
ORPHA:3287 |
Acquired Methemoglobinemia |
|
Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Tachycardia, Hypoglycemia, Dilated cardiomyopathy, Delayed puberty, Pulmona... |
OMIM:614921 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Hyperactivity, Abnormal autonomic nerv... |
ORPHA:35069 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Hypoinsulinemia, Syncope |
OMIM:616260 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration |
OMIM:610042 |
Serotonin Syndrome |
|
Hypertension, Abnormality of the autonomic nervous system, Tachycardia, Hypotension |
ORPHA:43116 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
African Trypanosomiasis |
|
Narcolepsy, Abnormality of the endocrine system, Abnormal prolactin level, Abnormality of renin-a... |
ORPHA:3385 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Decreased serum leptin, Ventricular arr... |
ORPHA:280365 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia |
ORPHA:2126 |
Liddle Syndrome |
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Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Congenital Generalized Lipodystrophy |
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Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hypertriglyceridemia, Diabete... |
ORPHA:528 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... |
OMIM:300952 |
Thyrotropin-Releasing Hormone Deficiency |
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Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
Intellectual Developmental Disorder, X-Linked 30 |
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Anxiety, Hyperactivity, Aggressive behavior |
OMIM:300558 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... |
ORPHA:542323 |
Graves Disease, Susceptibility To, 1 |
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Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... |
OMIM:275000 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Hypergonadotropic hyp... |
ORPHA:280679 |
Stiff Skin Syndrome |
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Hypertension, Type II diabetes mellitus |
ORPHA:2833 |
Adenylosuccinase Deficiency |
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Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... |
OMIM:103050 |
Long Qt Syndrome 2 |
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Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Body Mass Index Quantitative Trait Locus 20 |
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Obesity, Hyperinsulinemia |
OMIM:618406 |
Pituitary Adenoma 1, Multiple Types |
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Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
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Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Ve... |
OMIM:614575 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
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Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Second degree atriovent... |
ORPHA:369929 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Hypertension, Pulmonary arterial hypertension, Small for gestational age |
OMIM:613355 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Neonatal hypoglycemia, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Hyperthyroidism, Hypothyroidism, Attention deficit hyperactivity disorder, Diabete... |
ORPHA:449291 |
Wolff-Parkinson-White Syndrome |
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Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Atrial Fibrillation, Familial, 18 |
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Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Nelson Syndrome |
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Type II diabetes mellitus, Adrenocorticotropic hormone excess, Increased circulating cortisol lev... |
ORPHA:199244 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Jervell And Lange-Nielsen Syndrome 1 |
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Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Wolfram Syndrome |
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Abnormal autonomic nervous system physiology, Optic atrophy, Male hypogonadism, Diabetes mellitus... |
ORPHA:3463 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Abnormal autonomic nervous system physiology, Hyperactivity, Postural hypotension with compensato... |
OMIM:256800 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
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Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... |
OMIM:169500 |
Renal Nutcracker Syndrome |
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Abnormal autonomic nervous system physiology, Orthostatic hypotension, Tachycardia, Syncope, Weig... |
ORPHA:71273 |
Cardiomyopathy, Familial Hypertrophic, 6 |
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Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hypoketotic hypoglycemia, Arrhythmia, Hypotension, Ventricular tachycardia, Fasting hypoglycemia,... |
ORPHA:159 |
Primary Membranoproliferative Glomerulonephritis |
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Myocardial infarction, Hypertension |
ORPHA:54370 |
Estrogen Resistance |
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Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Posttransplant Acute Limbic Encephalitis |
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Abnormal autonomic nervous system physiology |
ORPHA:163921 |
Sneddon Syndrome |
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Hypertension, Intracranial hemorrhage |
ORPHA:820 |
Cardiomyopathy, Familial Hypertrophic, 17 |
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Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... |
OMIM:613873 |
Glutaric Aciduria Iii |
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Failure to thrive, Goiter, Hypertension, Hyperthyroidism |
OMIM:231690 |
2Q23.1 Microdeletion Syndrome |
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Ataxia, Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter |
ORPHA:228402 |
Moyamoya Disease With Early-Onset Achalasia |
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Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Pituitary Adenoma 4, Acth-Secreting |
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Abdominal obesity, Glucose intolerance, Pituitary adenoma, Increased circulating ACTH level, Impa... |
OMIM:219090 |
Apparent Mineralocorticoid Excess |
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Failure to thrive, Decreased circulating aldosterone level, Abnormality of circulating cortisol l... |
ORPHA:320 |
Inherited Creutzfeldt-Jakob Disease |
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Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
Fructose-1,6-Bisphosphatase Deficiency |
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Fasting hypoglycemia, Hypoglycemia, Tachycardia, Neonatal hypoglycemia |
ORPHA:348 |
Lead Poisoning |
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Small for gestational age, Abnormality of the autonomic nervous system, Decreased circulating ost... |
ORPHA:330015 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hypoglycemia, Tachycardia |
OMIM:229700 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
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Optic atrophy, Autonomic bladder dysfunction, Hypogonadotropic hypogonadism, Delayed puberty |
ORPHA:447896 |
Gomez-Lopez-Hernandez Syndrome |
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Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Depression, Bipolar affecti... |
OMIM:601853 |
Moyamoya Disease 6 With Or Without Achalasia |
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Hypertension, Ischemic stroke, Raynaud phenomenon |
OMIM:615750 |
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