Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment |
OMIM:614896 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Sensorineural hearing impairment, I... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Thrombocythemia 3 |
|
Thrombocytosis, Ischemic stroke |
OMIM:614521 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Sensorin... |
ORPHA:182050 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he... |
ORPHA:494444 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... |
ORPHA:75564 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia,... |
OMIM:231200 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... |
ORPHA:79230 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tac... |
OMIM:212138 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... |
OMIM:601419 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage |
ORPHA:238459 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Impaired glucose tolerance, Atrioventricular block, Prominent antihelix, Glucose intole... |
OMIM:614407 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia, Hyperalanin... |
OMIM:619048 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Dystonia, Bradycardia, Hearing impairment |
OMIM:616277 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase |
OMIM:620265 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveo... |
OMIM:614034 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... |
OMIM:604416 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Optic atrophy, Hyperammonemia, Bradycardia, Dystonia, Hyperalaninemia, Hypertrophic... |
OMIM:614702 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... |
ORPHA:276575 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre... |
OMIM:616299 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose homeos... |
ORPHA:391673 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... |
ORPHA:324575 |
Cln3 Disease |
|
Ataxia, Vacuolated lymphocytes, Optic atrophy, Bradykinesia, T-wave inversion, Bradycardia, Shuff... |
ORPHA:228346 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... |
OMIM:153670 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Hypocalcemia, Hyp... |
ORPHA:94093 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Generalized dystonia, Bradycardia, Cardiac arrest |
OMIM:618235 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Bradycardia |
OMIM:609924 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Ataxia, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Hyperammon... |
ORPHA:20 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus, Hypertensi... |
ORPHA:3299 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia, Dystonia |
OMIM:614654 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... |
ORPHA:542306 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, Leukocytosis, ... |
ORPHA:824 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Hypoglycemia, Leukocytosis, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, Thr... |
ORPHA:134 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia, Lethargy |
ORPHA:95717 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, No... |
OMIM:618775 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, Thrombocytosis... |
OMIM:226300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Cardiomyopathy, Progressive hearing impairment, Gait disturbance, Bradycardia,... |
OMIM:609286 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... |
OMIM:601005 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Leg dystonia, Hypsarrhythmia, EEG abnorma... |
ORPHA:565624 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocy... |
OMIM:124900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Bradycardia, Lethargy, Abnormal circulating thyroglobulin level... |
ORPHA:95716 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ... |
ORPHA:330001 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia, Opisthotonus |
OMIM:619814 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Posteriorly rotated ears, Increased mean platelet volume, Sensorineural hearing impairmen... |
OMIM:616737 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
D-Glyceric Aciduria |
|
Hypoglycemia, Optic nerve hypoplasia, Sensorineural hearing impairment, Nonketotic hyperglycinemi... |
OMIM:220120 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Decr... |
ORPHA:274 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Telangiectasia, Leukop... |
OMIM:615934 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, ... |
ORPHA:90647 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Ataxia, Portal hypertension, Elevated circulating C-reactive protein concentration,... |
OMIM:615688 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Lethargy, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen... |
ORPHA:71493 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalb... |
OMIM:222470 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
EEG with burst suppression, Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia |
OMIM:614498 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Ataxia, Tremor, Dysmetria, Cardiomyopathy, Hypoalbuminemia, Hypocholesterolemia, Th... |
OMIM:212065 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w... |
OMIM:261740 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Low-set ears, Bradycardia, Hyperammonemia |
OMIM:610015 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... |
ORPHA:52368 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypsarrhythmia, Bradycardia,... |
OMIM:610768 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Cogan Syndrome |
|
Aortic regurgitation, Leukocytosis, Vasculitis, Sensorineural hearing impairment, Large vessel va... |
ORPHA:1467 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Posteriorly rotated ears, Giant platelets, Anemia, Microtia, Low-set ears, Conductive hearing imp... |
OMIM:611209 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... |
ORPHA:263455 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Acitretin/Etretinate Embryopathy |
|
Cupped ear, Microtia, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia,... |
ORPHA:40366 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ... |
ORPHA:324636 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia |
OMIM:608800 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Exaggerated startle response, Opisthotonus, Hypertension, Anemia |
OMIM:184850 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Iron deficiency anemia, Hypocalcemia, Type I diabetes mellitus, Thromb... |
OMIM:212750 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein... |
OMIM:603585 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:600649 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Unsteady gait, Cardiomyopathy, Type II diabetes mellitus, Hyper... |
OMIM:520000 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosi... |
ORPHA:90051 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Thrombocytosis, Pulmonary arterial hypertension, Polycythemia |
ORPHA:2905 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... |
OMIM:313900 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
Syndromic Diarrhea |
|
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abn... |
ORPHA:84064 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume... |
OMIM:617718 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Lethargy, Abnorm... |
ORPHA:99826 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... |
OMIM:246200 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Elevated circulating C-reactive protein concentration, Myocarditis, Leukoc... |
ORPHA:319213 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of e... |
ORPHA:93111 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Opisthotonus |
OMIM:619272 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... |
ORPHA:3260 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Bradycardia, Mildly elevated creatine kinase |
OMIM:620351 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal nerve morphology, Syncope,... |
ORPHA:221098 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase |
OMIM:604484 |
Encephalitis Lethargica |
|
Tremor, Lethargy, Bradycardia |
ORPHA:83600 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level, Bradycardia, Lethargy |
ORPHA:90673 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment |
OMIM:221400 |
Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Right ventricular failure, Cardiogenic shock, Congestive heart fa... |
ORPHA:563 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... |
OMIM:187900 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Sensorineural hearing impairment, Normochrom... |
ORPHA:91355 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Dystonia, Hypsarrhythmia, Sinus bradycardia |
OMIM:618397 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Increased mean platelet volume, Optic atrophy, Thrombocytopeni... |
ORPHA:487796 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529799 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
Brucellosis |
|
Pericarditis, Transient ischemic attack, Elevated circulating C-reactive protein concentration, A... |
ORPHA:1304 |
Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia |
OMIM:615486 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Tremor, Sensorineural hearing impairment, Bradycardia, Neutropenia, Neonatal hypoglycemia |
OMIM:617248 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia, Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbiliru... |
ORPHA:90674 |
Yellow Fever |
|
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
ORPHA:99829 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... |
ORPHA:26793 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Hypertension, Gait disturbanc... |
ORPHA:90321 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Lymphocytosis, Thr... |
OMIM:301074 |
Proximal Spinal Muscular Atrophy |
|
Inability to walk, Facial diplegia, Bradycardia, Difficulty walking |
ORPHA:70 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia, Low-set ears |
OMIM:614653 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypsarrhythmia, Hypochromic anemia |
OMIM:618213 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking |
ORPHA:3198 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Optic nerve hypoplasia, Sensorineural hearing impairment, Bradycardia, Lethargy, Ab... |
ORPHA:226307 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... |
ORPHA:99885 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Portal hypertension, Congestive heart failure, Increased circulating ferritin ... |
ORPHA:465508 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Hypokalemia |
OMIM:613239 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Pancytopenia, Ataxia, Generalized dystonia, Dilated cardiomyopathy, Gait ataxia, Hyp... |
OMIM:618321 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hypokalemia, Palpitations |
OMIM:188580 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Tachycardia, Hypoglycemia |
OMIM:229700 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ataxia, Cardiac ... |
ORPHA:466677 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens... |
OMIM:609136 |
Hyperekplexia 3 |
|
Exaggerated startle response, Syncope |
OMIM:614618 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... |
ORPHA:137675 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor |
OMIM:609541 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Pulsatile tinnitus, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Cockayne Syndrome A |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:216400 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Congenital sensorineural hearing impa... |
ORPHA:79155 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Inability to walk, Optic atrophy, Bradycardia |
ORPHA:97297 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking |
ORPHA:320406 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... |
ORPHA:90033 |
Cockayne Syndrome B |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:133540 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Pulsatile tinnitus, Palpitations, Conductive hearing impairment, Hypertension associ... |
OMIM:168000 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears |
OMIM:618598 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Opt... |
ORPHA:845 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:267000 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Sandhoff Disease, Infantile Form |
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Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Familial Renal Glucosuria |
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Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Macrotia, EEG with gener... |
OMIM:617864 |
Tyrosinemia, Type I |
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Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... |
OMIM:276700 |
Sandhoff Disease |
|
Orthostatic hypotension, Ataxia, Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
Doors Syndrome |
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Optic atrophy, EEG abnormality, Atresia of the external auditory canal, Low-set ears, Thrombocytosis |
ORPHA:79500 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... |
ORPHA:2968 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Resting tremor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy,... |
ORPHA:909 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Anemia, Dilated cardiomyopathy, Bradycardia, Abnormal blood ion concentration |
ORPHA:79404 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary insufficiency, Abnormal pinna morphology, Bradycardia, Low-set ears |
OMIM:614437 |
Aceruloplasminemia |
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Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... |
ORPHA:48818 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia |
ORPHA:438216 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:253800 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Low-set ears, Dystonia, Macroti... |
ORPHA:79255 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatitis, Enlarged la... |
ORPHA:449432 |
Pheochromocytoma |
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Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171300 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... |
ORPHA:401973 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Malignant Hyperthermia, Susceptibility To, 5 |
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Tachycardia |
OMIM:601887 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Difficulty walking, Sinus bradycardia |
OMIM:619482 |
Plaa-Associated Neurodevelopmental Disorder |
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Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Simpson-Golabi-Behmel Syndrome |
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Hepatomegaly, Hypoglycemia, Supernumerary nipple, Cryptorchidism, Splenomegaly, Pancreatic islet-... |
ORPHA:373 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Greenberg Dysplasia |
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Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly |
OMIM:215140 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617301 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Broad-based gait, Exaggerated startle response, Decreased serum iron, Inabilit... |
ORPHA:438213 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Pancreatic islet-cell hyperplas... |
OMIM:312870 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe |
OMIM:619522 |