Autism, Susceptibility To, 20 |
|
Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
Hereditary Geniospasm |
|
Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Obsessive-Compulsive Disorder |
|
Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Shyness |
OMIM:618221 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions |
OMIM:611092 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Impaired social interactions |
OMIM:618103 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships |
OMIM:608631 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Impaired social interactions |
OMIM:606053 |
Obesity Due To Sim1 Deficiency |
|
Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder, Hypotensi... |
ORPHA:369873 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Tremor, Depression, Inappropriate behavior, Cognitive impairment, Dystonia, Memory impairment |
ORPHA:401901 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships |
OMIM:607373 |
Autism |
|
Impaired ability to form peer relationships |
OMIM:209850 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... |
ORPHA:3282 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Impaired social interactions |
OMIM:608636 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Postural tremor, Raynaud phenomenon, Neuromuscular dysphagia, Dep... |
ORPHA:227510 |
Nipah Virus Disease |
|
Tremor, Hypotension, Anorexia |
ORPHA:99825 |
Perry Syndrome |
|
Tremor, Hypotension, Depression |
ORPHA:178509 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... |
ORPHA:449285 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology, Depression |
ORPHA:398147 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Hype... |
OMIM:608643 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Tremor, Hyperhidrosis, Irritability, Hypertension, Agitation, Hypotens... |
ORPHA:43116 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Raynaud phenomenon, Depression, Orthostatic sync... |
ORPHA:98933 |
Hsd10 Disease |
|
Tremor, Short attention span, Abnormal social behavior, Choreoathetosis |
ORPHA:391417 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology, Impulsivity, Depression |
ORPHA:101046 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Aggressive behavior, Tremor, Hypertension, Abnormal autonomic ne... |
ORPHA:97229 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Restless legs, Depression |
OMIM:616710 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet craving, Depressi... |
ORPHA:33543 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:618960 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Tremor, Optic atrophy, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:329284 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Raynaud phenomenon, Orthostatic syncope, Abnorma... |
ORPHA:102 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Depression, Pseudobulbar paralysis, Decreased sweating due to autonomic dysfunction, Autonomic bl... |
OMIM:169500 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Impaired social interactions, Dystonia |
OMIM:617820 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:444002 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Impaired social interactions |
ORPHA:397933 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:91354 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology, Hyperhidrosis |
OMIM:615548 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Dysphagia, Depression, Hypertension, Abnormal autonomic nervous system physiology, Hypotension, C... |
ORPHA:93256 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Anhidrosis, Sparse scalp hair, Hyperactivity, Abnormal autonomic nervous system physiology, Nail ... |
OMIM:256800 |
Infant Botulism |
|
Cardiac arrest, Anorexia, Xerostomia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
Meningococcal Meningitis |
|
Shock, Papilledema, Anorexia, Irritability, Hypotension |
ORPHA:33475 |
Tetanus |
|
Tachycardia, Tremor, Dysphagia, Opisthotonus, Hypertension, Bradycardia, Abnormal autonomic nervo... |
ORPHA:3299 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Tremor, Hypertension, Hypotension, Dystonia |
ORPHA:330021 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Tremor, Hyperhidrosis, Abnormal autonomic nervous system physiology, Dystonia |
OMIM:618049 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Impaired social interactions, Attention deficit hyperactivity disorder, Intention tremor |
ORPHA:137831 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Depression, Irritability, Addictive alcohol use, ... |
ORPHA:399 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Abnormal prolact... |
ORPHA:95619 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol... |
ORPHA:556037 |
Pure Autonomic Failure |
|
Anhidrosis, Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology |
ORPHA:441 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Hypertension, Agitation, Abnormal autonomic nervous system ph... |
OMIM:613870 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Myocarditis, Depressi... |
ORPHA:3452 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Impaired social interactions |
OMIM:617051 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... |
ORPHA:97287 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder |
OMIM:617935 |
Spinocerebellar Ataxia Type 29 |
|
Delayed early-childhood social milestone development, Cognitive impairment, Intention tremor |
ORPHA:208513 |
Alexander Disease |
|
Facial palsy, Sudden cardiac death, Tremor, Depression, Hyperhidrosis, Hypertension, Self-injurio... |
ORPHA:58 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Tremor, Congestive heart failure, Thyrotoxicosis with diffuse... |
ORPHA:525731 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol... |
ORPHA:556030 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block |
ORPHA:85447 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Melena, Palpitations, Hypotension, ... |
ORPHA:100080 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal autonomic nervous system ... |
ORPHA:330001 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal repetitive mannerisms, Hypotension |
ORPHA:79155 |
Erythermalgia, Primary |
|
Palpitations, Xerostomia, Abnormal autonomic nervous system physiology, Hyperhidrosis |
OMIM:133020 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Anorexia, Irritability, Hypovolemic shock, Hypertension... |
ORPHA:2912 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematochezia, Melena, Palpitations,... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematochezia, Melena, Palpitations,... |
ORPHA:100082 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Impaired social interactions |
ORPHA:329249 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperaldosteronism, Hypotension |
OMIM:264350 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Pancreatitis, Hypotension |
ORPHA:70578 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Tremor, Depression, Impaired social interactions, Dystonia, Action tremor |
OMIM:619738 |
Analbuminemia |
|
Hypotension |
OMIM:616000 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypotension |
OMIM:611489 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Polydipsia |
ORPHA:30925 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Dysphagia, Hyperhidrosis, Hypertensio... |
ORPHA:94093 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Dexamethasone-suppressible... |
ORPHA:403 |
Scrub Typhus |
|
Tremor, Myocarditis, Hypotension, Hyperhidrosis |
ORPHA:83317 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... |
ORPHA:90065 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Tremor, Dysphagia, Depression, Abnormal autonomic nervous system physiology, Dyst... |
OMIM:168600 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Impulsivity, Optic atrophy, Abnormal autonomic nervous system physiology, Dystonia... |
ORPHA:35069 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Hypotension |
OMIM:203400 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Anorexia, Adre... |
ORPHA:199299 |
Legionnaires Disease |
|
Pericarditis, Anorexia, Myocarditis, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:549 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Anorexia, Cryptorchidism, Testicular adrenal rest tumor, Co... |
ORPHA:361 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Writer's cramp, Congestive heart failure, Optic atrophy, Depression, Hypotension, Emoti... |
ORPHA:428 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hypotension |
OMIM:620125 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Pseudohypoaldosteronism, Hyperaldosteronism, Hypotension |
OMIM:177735 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Addictive alcohol use, Hypotension |
ORPHA:36238 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Adrenal insufficiency, Hypotension, Decreased circulating a... |
ORPHA:427 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Orthostatic hypotension, Salt craving, Sparse axillary hair... |
ORPHA:95409 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology |
ORPHA:247257 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Dystonia, Agitation, Abnormal autonomic nervous system physiology, Bruxism, Recurrent hand flapping |
OMIM:617903 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Anorexia, Tremor, Oral-pharyngeal dysphagia, Aggressive behavior,... |
ORPHA:2131 |
Aa Amyloidosis |
|
Hypothyroidism, Hypotension, Adrenal insufficiency |
ORPHA:85445 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Abnormal autonomic nervous system physiology, Aggressive behavior, Dystonia |
OMIM:300894 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Dystonia, Emotional lability, Abnorm... |
ORPHA:309263 |
Posttransplant Acute Limbic Encephalitis |
|
Depression, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:163921 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Xerostomia, Jaw claudication, Hypertrophic cardiomyopa... |
ORPHA:85443 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Anorexia |
ORPHA:98850 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Central Diabetes Insipidus |
|
Polydipsia, Anorexia, Depression |
ORPHA:178029 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Hypote... |
ORPHA:199296 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cryptorchidism, Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest |
ORPHA:168593 |
Non-Functioning Pituitary Adenoma |
|
Abnormal hair quantity, Macroorchidism, postpubertal, Hypopituitarism, Decreased response to grow... |
ORPHA:91349 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Hypertension, Agitation, Hypotension, Oral aversion |
ORPHA:134 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Melena, Palpitations, ... |
ORPHA:100075 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hypo... |
OMIM:301500 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Depression, Abnormal autonomic nervous system physiology, Hypothyroidism, Ha... |
ORPHA:83601 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Thyroid dysgenesis, Hyperactivity, Abnormal eating behavior, Abnormal drinkin... |
ORPHA:209905 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Depression, Agitation, Abnormal autonomic nervous system phys... |
ORPHA:2828 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Deme... |
ORPHA:309271 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Irritability, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology, Dysphagia, Hyperhidrosis |
OMIM:600072 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Internal hemorr... |
ORPHA:99827 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
X-Linked Intellectual Disability, Van Esch Type |
|
Increased circulating gonadotropin level, Impaired social interactions, Attention deficit hyperac... |
ORPHA:163976 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Depression, Irritability, Abnormal autonomic nervous system physiology, Emotional labilit... |
ORPHA:282166 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Athetosis, Hypertension, Hyperaldosteron... |
ORPHA:369929 |
Variant Abeta2M Amyloidosis |
|
Abnormal salivary gland morphology, Reduced left ventricular ejection fraction, Abnormal autonomi... |
ORPHA:314652 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Pituitary Apoplexy |
|
Decreased response to growth hormone stimulation test, Elevated circulating growth hormone concen... |
ORPHA:95613 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Myocarditis, Hyperhidrosis, Subconjunctival hemorrhage, Bradycardia, Hypot... |
ORPHA:319213 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension |
ORPHA:99828 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ventricular tachycardia, Palpitations, Hypotension, Polydipsia |
OMIM:263800 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Anhidrosis, Abnormal autonomic nervous system physiology, Hyp... |
OMIM:243000 |
Familial Cold Urticaria |
|
Polydipsia, Hyperhidrosis |
ORPHA:47045 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Hyperhidrosis, Hyperthyroidism, Hypotension, Ventricular arrhythmia, Secondary growth hor... |
ORPHA:91347 |
Congenital Enterovirus Infection |
|
Myocarditis, Irritability, Hypotension, Cardiomyopathy |
ORPHA:292 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Polydipsia, Hyperaldosteronism, Adrenal hyperplasia |
OMIM:613677 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, Upper limb postural tremor, Action tremor, Tremor, Head titu... |
ORPHA:99027 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexua... |
ORPHA:217253 |
Ochoa Syndrome |
|
Cryptorchidism, Polydipsia, Hypertension |
ORPHA:2704 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Anorexia, Heart murmur, Ovarian neoplasm, Adrenocorticotropic hormone excess,... |
ORPHA:100079 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Optic atrophy, Irritability, Hypotension, Arrhythmia |
ORPHA:2135 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Orthostatic... |
ORPHA:85138 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Postural tremor, Optic atrophy, Dysphagia, Autonomic bladder dysfunction, Dystonia, Intention tremor |
ORPHA:447896 |
Marchiafava-Bignami Disease |
|
Facial palsy, Aggressive behavior, Depression, Addictive alcohol use, Abnormal emotion |
ORPHA:221074 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin... |
OMIM:231550 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Hyperhidrosis, Intracranial hemorrhage, Melena, Hyper... |
ORPHA:340 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Impaired social interactions |
OMIM:616083 |
Panhypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95513 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Hypotension |
ORPHA:439822 |
Trichotillomania |
|
Hair-pulling, Alopecia, Compulsive behaviors |
OMIM:613229 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct... |
ORPHA:97355 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Cardiac arrest, Anorexia, Dilated cardiomyopathy, Hypotension |
ORPHA:20 |
Prolactinoma |
|
Abnormal hair quantity, Elevated circulating growth hormone concentration, Adrenocorticotropic ho... |
ORPHA:2965 |
Acute Lung Injury |
|
Shock, Acute pancreatitis, Addictive alcohol use, Diffuse alveolar hemorrhage |
ORPHA:178320 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperthyroidism, Shyness, Depression, Irritability, Impaired social interac... |
ORPHA:449291 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Congenital adrenal hyperplasia, Cryptorchidism, Adrenocorti... |
ORPHA:90791 |
Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decreased amplitude of sensory action po... |
ORPHA:2388 |
Colchicine Poisoning |
|
Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arr... |
ORPHA:31824 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension |
ORPHA:391673 |
Multiple System Atrophy 1, Susceptibility To |
|
Anhidrosis, Orthostatic hypotension, Tremor, Hypohidrosis, Abnormal autonomic nervous system phys... |
OMIM:146500 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Abnormal autonomic nervous system physiology, Dysphagia, Intention tremor, Abnorm... |
ORPHA:247234 |
Cholera |
|
Irritability, Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology, Dysphagia |
ORPHA:363722 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Prolonged QT interval, Polydipsia, Salt craving, Raynaud phenomenon, Ab... |
ORPHA:358 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Aggressive behavior, Narcolepsy, Adrenocor... |
ORPHA:293987 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Tremor, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due... |
OMIM:105210 |
Rett Syndrome |
|
Agitation, Abnormal autonomic nervous system physiology, Dystonia, Abnormal repetitive mannerisms... |
ORPHA:778 |
Pitt-Hopkins-Like Syndrome 1 |
|
Impaired social interactions, Progressive language deterioration, Attention deficit hyperactivity... |
OMIM:610042 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology, Dysphagia, Dystonia |
OMIM:109150 |
48,Xxxy Syndrome |
|
Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorma... |
ORPHA:96263 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior, Dystonia |
ORPHA:309256 |
Lambert-Eaton Myasthenic Syndrome |
|
Xerostomia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomi... |
ORPHA:43393 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Alopecia, Decreased response to growth hormone stimulation ... |
ORPHA:293978 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Euphoria, Intracranial hemorrhage, Depression, Adrenal insuff... |
ORPHA:90062 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Hereditary Angioedema Type 1 |
|
Hypotension, Dysphagia |
ORPHA:100050 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia, Hypothyroidism, Portal hypertension |
ORPHA:213 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Parkinsonian-Pyramidal Syndrome |
|
Dystonia, Abnormal autonomic nervous system physiology, Dysphagia, Intention tremor |
ORPHA:171695 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Polydipsia, Decreased circulating aldosterone level |
ORPHA:320 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Optic nerve hypoplasia, Abnormal autonomic nervous system physiology, Dystonia, Emot... |
ORPHA:300570 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg... |
OMIM:609136 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Abnormal autonomic nervous system physiology, Decreased distal sensory nerv... |
OMIM:614575 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Orchitis, Pancreatitis, Hypovole... |
ORPHA:99826 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... |
ORPHA:289548 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Cryptorchidism, Hyp... |
ORPHA:3157 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Porphyria Variegata |
|
Hypertension, Tachycardia, Abnormal autonomic nervous system physiology, Hypertrichosis |
ORPHA:79473 |
East Syndrome |
|
Polydipsia, Hyperaldosteronism, Salt craving, Action tremor |
ORPHA:199343 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hypertension, Hyperaldosteronism, Polydipsia, Intention tremor |
OMIM:612780 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Irritability, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia |
OMIM:304800 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Polydipsia |
OMIM:617671 |
Nephronophthisis 1 |
|
Hypertension, Polydipsia |
OMIM:256100 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, ST segment depression, Hypotension, Abnormal T-wave, Abnormal ... |
ORPHA:466650 |
Leptospirosis |
|
Papilledema, Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Sub... |
ORPHA:509 |
Bartter Syndrome, Type 3 |
|
Hyperaldosteronism, Hypotension |
OMIM:607364 |
Ramos-Arroyo Syndrome |
|
Sparse scalp hair, Aganglionic megacolon, Xerostomia, Abnormal autonomic nervous system physiolog... |
ORPHA:1051 |
Tick-Borne Encephalitis |
|
Facial palsy, Anorexia, Tremor, Depression, Abnormal glossopharyngeal nerve morphology, Abnormal ... |
ORPHA:297 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Abnormal autonomic nervous system physiology, Limb dystonia |
OMIM:616840 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decreased heart rate variabi... |
OMIM:209880 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Optic atrophy, Cardiomyopathy, Abnormal autonomic nervous system phy... |
ORPHA:3463 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hyperpituitarism, Anter... |
ORPHA:91351 |
Hellp Syndrome |
|
Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:90695 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypovolemia, Anorexia |
ORPHA:223 |
Stuve-Wiedemann Syndrome 1 |
|
Hyperhidrosis, Abnormal autonomic nervous system physiology, Dysphagia, Sparse hair, Pulmonary ar... |
OMIM:601559 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
Lysosomal Acid Lipase Deficiency |
|
Pulmonary arterial hypertension, Hypovolemia, Primary adrenal insufficiency, Hypotension |
ORPHA:275761 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Septo-optic dysplasia, Decreased r... |
ORPHA:95494 |
Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Epistaxis, Anorexia, Diffuse alveolar hemorrhage |
ORPHA:520 |
Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Low posterior hairline,... |
ORPHA:261318 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Plague |
|
Tachycardia, Anorexia, Hematemesis, Depression, Hypotension, Arrhythmia |
ORPHA:707 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Dystonia, Progressive neurologic deterioration, Tremor, Depression, Dementia, Low... |
ORPHA:646 |
Renal Hypoplasia |
|
Hypertension, Polydipsia |
ORPHA:93101 |
Fg Syndrome Type 1 |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:93932 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Isolated Osteopoikilosis |
|
Addictive alcohol use |
ORPHA:166119 |
Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
Senior-Boichis Syndrome |
|
Portal hypertension, Aggressive behavior, Hypertension, Agitation, Attention deficit hyperactivit... |
ORPHA:84081 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Decreased circulating cortisol level, Frontal balding, Primary adrenal insufficiency, Test... |
ORPHA:90794 |
Haddad Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Hypothyroidism, Abnormal autonomic nervous system physiology, Bruxism |
ORPHA:453499 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Synophrys, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior, Intention tremor |
ORPHA:314647 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
Oligomeganephronia |
|
Hypertension, Polydipsia, Optic disc coloboma |
ORPHA:2260 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Thick hair, Low anterior hairline, Premature graying o... |
ORPHA:769 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis... |
ORPHA:99880 |
Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis... |
ORPHA:143 |
Erdheim-Chester Disease |
|
Congestive heart failure, Polydipsia, Hyperhidrosis |
ORPHA:35687 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Abnormal social behavior, Impaired social ... |
ORPHA:177907 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system... |
ORPHA:139417 |
Leprosy |
|
Absent eyebrow, Alopecia, Epistaxis, Testicular mass, Loss of eyelashes, Abnormality of the seven... |
ORPHA:548 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Primary hyperparathyroidism |
OMIM:239200 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Dysphagia, Polydipsia, Pancreatitis |
ORPHA:537 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Hyperaldosteronism, Low-to-normal blood pressure |
OMIM:241200 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling, Polyphagia, Self-injuriou... |
OMIM:620330 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnormality of e... |
ORPHA:93111 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use, Hirsutism, Hypertrichosis |
ORPHA:101330 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Hyperaldosteronism, Low-to-normal blood pressure |
OMIM:601678 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Primary adrenal insufficiency, Inappropria... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Primary adrenal insufficiency, Inappropria... |
ORPHA:363958 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Arima Syndrome |
|
Hypertension, Polydipsia, Optic atrophy |
OMIM:243910 |
Stüve-Wiedemann Syndrome |
|
Hypohidrosis, Hyperhidrosis, Abnormal autonomic nervous system physiology, Ectopic thyroid, Hypot... |
ORPHA:3206 |
Juvenile Nephropathic Cystinosis |
|
Hypovolemia, Polydipsia, Hypothyroidism |
ORPHA:411634 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Hypohidrosis, Long eyelashes, Bruxism, Thick eyebrow |
ORPHA:48652 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Oral-pharyngeal dysphagia, Hypohidrosis, Primary hypothyroidism, Dyspha... |
OMIM:219800 |
Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression |
ORPHA:805 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Abnormality of thyroid physiology |
ORPHA:411629 |
Trichothiodystrophy |
|
Reduced social reciprocity, Intention tremor |
ORPHA:33364 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Portal hypertension, Biliary hyperplasia, Pancreatic cysts, Hyperten... |
ORPHA:731 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Hyperaldosteronism |
OMIM:602522 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Hypovolemia |
ORPHA:47159 |
Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Williams Syndrome |
|
Tremor, Depression, Attention deficit hyperactivity disorder, Abnormal social behavior, Hypothyro... |
ORPHA:904 |