Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Hypercholesterolemia, Sudden cardiac death, Myocardial infarction, Hypertension, ... |
OMIM:610947 |
Atrial Standstill |
|
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... |
ORPHA:1344 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... |
ORPHA:217607 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617182 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... |
ORPHA:45453 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Inability to walk, Right bundle br... |
ORPHA:206559 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation |
OMIM:617280 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Left ventricular hypertrophy, Dystonia, Hyperalaninemia |
OMIM:614654 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... |
OMIM:616201 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Bradycardia, Perimembranous ventricular s... |
OMIM:618782 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... |
ORPHA:79506 |
Progressive Familial Heart Block, Type Ia |
|
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... |
OMIM:113900 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617173 |
Tako-Tsubo Cardiomyopathy |
|
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... |
ORPHA:66529 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Dystonia, Increased total bilirubin |
OMIM:616299 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... |
OMIM:601154 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Prolonged QT interval, Hyperphosphatemia... |
ORPHA:94090 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... |
OMIM:601419 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... |
OMIM:616117 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypercholesterolemia, Myocardial infarction, Hypertension, Hypertriglyc... |
OMIM:615703 |
Brugada Syndrome |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... |
ORPHA:130 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Decreased plasma free carnitine, Ventricular hypertrophy, Bradycardia, ... |
OMIM:619048 |
Distal Myopathy, Tateyama Type |
|
Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... |
OMIM:614954 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Dilatation of the ventricular cavity, Atri... |
OMIM:615745 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration |
ORPHA:231249 |
Progressive Familial Heart Block, Type Ib |
|
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... |
OMIM:604559 |
Romano-Ward Syndrome |
|
Sinus bradycardia, Hypokalemia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventri... |
ORPHA:101016 |
Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Prolonged QT interval, Ventricular septa... |
OMIM:601005 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia |
OMIM:611938 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Lethargy... |
OMIM:212138 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Hypercalcemia, Congestive heart failure, Hypertension associated with pheochro... |
ORPHA:94080 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... |
ORPHA:99105 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Loeffler Endocarditis |
|
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... |
ORPHA:75566 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... |
OMIM:608758 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia, Bradycardia, Dystonia, Tremor |
OMIM:617248 |
Familial Progressive Cardiac Conduction Defect |
|
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block |
ORPHA:871 |
Rhabdoid Tumor |
|
Hypercalcemia, Anemia, Hypertension, Thrombocytopenia, Internal hemorrhage |
ORPHA:69077 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy |
OMIM:616276 |
Long Qt Syndrome 15 |
|
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Arrhythmia |
OMIM:300376 |
Familial Short Qt Syndrome |
|
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... |
ORPHA:51083 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... |
OMIM:618920 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Elevated circulating apolipoprotein ... |
OMIM:144250 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... |
OMIM:115200 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... |
OMIM:600858 |
Dystonia 23 |
|
Arrhythmia, Axial dystonia, Head tremor, Limb dystonia, Gait disturbance, Torticollis, Writer's c... |
OMIM:614860 |
Brugada Syndrome 1 |
|
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... |
OMIM:601144 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia, Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia,... |
OMIM:171420 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Ventricular fibrillation, Biventricular hypertrophy, Left anterior fascicular block, Hypertrophic... |
OMIM:613243 |
Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis |
OMIM:617222 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Elevated circulating creatine kinase concentration, Right bundle branch block |
OMIM:613158 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation, Arrhythmia |
OMIM:614302 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Neonatal hyperbilirubinemia, Lethargy |
ORPHA:95717 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia |
OMIM:607250 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Loss of ability to walk, Elevated circulating creatine kinase concentration, S... |
OMIM:616812 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia, Aortic valve stenosis, Pulmonic stenosis, Lethargy |
OMIM:143880 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:306000 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypercholesterolemia, Hypotension, Hypoalbuminemi... |
OMIM:616000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:618815 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Progressive Familial Heart Block, Type Ii |
|
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... |
OMIM:140400 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia, Gait disturbance, Elevated circulating creatine kinase concentration, Hypertriglyceri... |
OMIM:616516 |
Tetanus |
|
Opisthotonus, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Tach... |
ORPHA:3299 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... |
OMIM:613838 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... |
ORPHA:216694 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Intention tremor, Atrioventricular block, Bradycardia, Truncal ataxia |
OMIM:614407 |
Long Qt Syndrome 14 |
|
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... |
OMIM:616247 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... |
OMIM:619464 |
Peripartum Cardiomyopathy |
|
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Anemia, Hyper... |
ORPHA:563 |
Short Qt Syndrome 2 |
|
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... |
OMIM:609621 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia |
OMIM:192605 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Ventricular sept... |
OMIM:618775 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Elevated circulating creatine kinase concentration, Right bundle branch block, Ataxia, Unsteady gait |
OMIM:616479 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... |
OMIM:604772 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Ventricular fibrillation, Patent foramen ovale, Arrhythm... |
ORPHA:26793 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... |
ORPHA:168796 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia |
ORPHA:94124 |
Necrotizing Enterocolitis |
|
Leukocytosis, Hyponatremia, Shock, Hypotension, Lethargy, Neutropenia, Abnormal heart morphology,... |
ORPHA:391673 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls |
OMIM:615883 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... |
ORPHA:263297 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... |
OMIM:115197 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Abnormal left ventricular function, Hypocalcemia, Ventricular arrhythmia, ... |
ORPHA:36913 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Hypercalcemia, Congestive heart failure, Hypertension associated with pheochro... |
ORPHA:276621 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... |
OMIM:608567 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... |
OMIM:163800 |
Long Qt Syndrome 8 |
|
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... |
OMIM:618447 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Hypercholesterolemia, Ataxia, Gait ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia... |
OMIM:208920 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Reduced ejection fraction, Arrhythmia, Congestive ... |
ORPHA:85451 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope |
OMIM:600919 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Illum Syndrome |
|
Bradycardia, Calcinosis |
OMIM:208155 |
Mastocytosis |
|
Chronic leukemia, Mastocytosis, Gastrointestinal hemorrhage, Hypercalcemia, Arrhythmia, Splenomeg... |
ORPHA:98292 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... |
ORPHA:542306 |
Brugada Syndrome 2 |
|
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... |
OMIM:611777 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... |
OMIM:612158 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Hyponatremia, Arrhythmia, Oculogyric crisis, Thrombocytosis, Hyperkalemia, Hypocalc... |
ORPHA:94093 |
Hepatic Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Congestive heart failure, Hypercholesterolemia, Cerebral hemorrhage, ST segment dep... |
ORPHA:90065 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Lethargy |
ORPHA:95716 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Hyperlipidemia, Elevated circulating creatinine concentration, Atrial flutter,... |
ORPHA:439232 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... |
OMIM:613485 |
Hypophosphatasia |
|
Anemia, Hypercalcemia |
ORPHA:436 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Ataxia, Elevated circula... |
ORPHA:64753 |
Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia |
OMIM:602079 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal cardiac septum morphology |
ORPHA:3319 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... |
ORPHA:99103 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Sple... |
OMIM:616828 |
Hypercholesterolemia, Familial, 4 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:603813 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... |
OMIM:611528 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Increased circulating ferritin concentration, Arrhythmia, Congestive hear... |
OMIM:602390 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Pheochromocytoma |
|
Hypercalcemia, Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia,... |
OMIM:171300 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia |
OMIM:612526 |
Tropical Endomyocardial Fibrosis |
|
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... |
ORPHA:75565 |
Hypophosphatasia, Infantile |
|
Anemia, Elevated plasma pyrophosphate, Intracranial hemorrhage, Hypercalcemia |
OMIM:241500 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Bradycardia, Cardiomyopathy, Arrhythmia, Gait disturbance |
OMIM:609286 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... |
OMIM:604400 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... |
OMIM:614021 |
Wild Type Attr Amyloidosis |
|
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... |
ORPHA:330001 |
Complete Atrioventricular Septal Defect |
|
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... |
ORPHA:1329 |
Late-Onset Isolated Acth Deficiency |
|
Eosinophilia, Orthostatic hypotension, Hyponatremia, Normocytic anemia, Hypercalcemia, Decreased ... |
ORPHA:199299 |
Naxos Disease |
|
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... |
OMIM:601214 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Hypercalcemia, Congestive heart failure, Hypertension associated with pheochro... |
ORPHA:29072 |
Atrial Septal Defect, Ostium Primum Type |
|
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... |
ORPHA:99106 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Glutamine Deficiency, Congenital |
|
Bradycardia, Hypoglutaminemia, Hyperammonemia |
OMIM:610015 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Hyponatremia, Ataxia, Arrhythmia |
OMIM:616949 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... |
OMIM:604145 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypertension, Hypercalcemia |
ORPHA:251004 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... |
OMIM:608751 |
Genetic Recurrent Myoglobinuria |
|
Arrhythmia, Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Fatigable weakness of sw... |
ORPHA:99845 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Beta-Thalassemia |
|
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormality of iron homeostasis, An... |
ORPHA:848 |
Ebstein Anomaly |
|
Atrial standstill, Ventricular preexcitation, Atrial septal defect, Sudden cardiac death, Right b... |
OMIM:224700 |
Infant Acute Respiratory Distress Syndrome |
|
Bradycardia, Tachycardia, Hypotension, Cardiac arrest |
ORPHA:70587 |
Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... |
ORPHA:45452 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... |
ORPHA:300751 |
Acute Adrenal Insufficiency |
|
Hypovolemia, Orthostatic hypotension, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased c... |
ORPHA:95409 |
Morgagni-Stewart-Morel Syndrome |
|
Action tremor, Hypercholesterolemia, Hypertension, Hyperuricemia |
ORPHA:77296 |
Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Arrhythmia, Congestive heart failure, Atrial septal defect, Impe... |
ORPHA:1880 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... |
ORPHA:99104 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... |
OMIM:615373 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... |
OMIM:261740 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Increased C-peptide level, Hypertrophic cardiomyopat... |
ORPHA:276556 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Prolonged QT interval, Atrial f... |
OMIM:613327 |
Colchicine Poisoning |
|
Hypovolemia, Hypokalemia, Leukocytosis, Hyponatremia, Arrhythmia, Congestive heart failure, Abnor... |
ORPHA:31824 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... |
ORPHA:439 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Loss of ability to walk, Right bundle branch ... |
ORPHA:254361 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Coronary Arterial Fistula |
|
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... |
ORPHA:2041 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Third degree atrioventricular block, Atrioventricular canal defect, Bradycard... |
ORPHA:40366 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... |
OMIM:605814 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Prolonged QT interval, Hyperphosphatemia... |
ORPHA:94089 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Lacunar stroke, Splenomegaly, Hypercalcemia |
OMIM:618440 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal left ventricular function, Arrhythmia, Left anterior fascicular block, Steppage gait, El... |
ORPHA:437572 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Lethargy, Elevated circulating creatine kinase c... |
OMIM:600649 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Aortic regurgitation, Hypercholesterolemia, Renovascular hypertension, Bi... |
ORPHA:401923 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Increased C-peptide level, Hypertrophic cardiomyopat... |
ORPHA:276575 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia, Arrhythmia |
ORPHA:2238 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Reduced ejection fraction, Abnormal EKG, Inability to walk, Right ... |
ORPHA:268 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... |
OMIM:603902 |
Sitosterolemia 1 |
|
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... |
OMIM:210250 |
Mitochondrial Trifunctional Protein Deficiency |
|
Arrhythmia, Congestive heart failure, Hypocalcemia, Lethargy, Cardiomyopathy, Tip-toe gait, Mitra... |
ORPHA:746 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia, Lethargy |
ORPHA:90673 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Elevated circulating ... |
OMIM:310200 |
Eisenmenger Syndrome |
|
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... |
ORPHA:97214 |
Refractory Celiac Disease |
|
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... |
ORPHA:398063 |
Pseudo-Torch Syndrome 2 |
|
Bradycardia, Lethargy, Secundum atrial septal defect, Cerebral hemorrhage, Thrombocytopenia |
OMIM:617397 |
Scorpion Envenomation |
|
Increased circulating troponin I concentration, Hypokalemia, Premature ventricular contraction, A... |
ORPHA:466677 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Hypercalcemia, Gait ataxia, Tremor |
ORPHA:476126 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Hepatosplenomegaly, Portal hypertension, Hypercholesterolemia, Splenomegaly, Anemia, ... |
OMIM:278000 |
Double Outlet Right Ventricle |
|
Tetralogy of Fallot, Hypocalcemia, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic ... |
ORPHA:3426 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyponatremia, Portal hypertension, Hypercalcemia, Thrombocytosis, Hypotension, Anemi... |
ORPHA:88673 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Abnormal A-type atrial natriuretic peptide level, Abnormal cardiac exer... |
ORPHA:57777 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... |
OMIM:194200 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Lethar... |
ORPHA:247585 |
Hemoglobin E Disease |
|
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Myocardial infarction, Coronary artery stenosis, Hypercholesterolemia |
OMIM:615812 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Opisthotonus |
OMIM:619272 |
Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration, Hypotension, N... |
ORPHA:90051 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Splenomegaly, Anemia, Calcinosis, Hypophosphatemia |
OMIM:239200 |
Monosomy 13Q34 |
|
Hematochezia, Infantile hypercalcemia, Pulmonic stenosis, Common atrium, Epistaxis |
ORPHA:96168 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
Autosomal Dominant Hypocalcemia |
|
Arrhythmia, Congestive heart failure, Hypocalcemia, Hypotension, Fatigable weakness, Hyperphospha... |
ORPHA:428 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Hypertrophic cardiomyopathy, Lethargy, Palpitations, Syncope, Tachycardia |
ORPHA:276580 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Lethargy, Bradycardia, Neonatal hyperbilirubinemia, Abnormal circulating th... |
ORPHA:90674 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Loss of ability to walk, Leg dystonia, Tip-toe gait |
ORPHA:565624 |
Lujo Hemorrhagic Fever |
|
Subconjunctival hemorrhage, Leukopenia, Resting tremor, Leukocytosis, Shock, Myocarditis, Thrombo... |
ORPHA:319213 |
Encephalitis Lethargica |
|
Bradycardia, Lethargy, Tremor |
ORPHA:83600 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concen... |
OMIM:277460 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly |
OMIM:619658 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholestero... |
ORPHA:247598 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Hyperphosphatemia,... |
OMIM:145600 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyo... |
ORPHA:528 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Increased HDL cholestero... |
ORPHA:70591 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Addison Disease |
|
Orthostatic hypotension, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating re... |
ORPHA:85138 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Waddling gait, Hypercalcemia |
OMIM:156400 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Gaisböck Syndrome |
|
Hypovolemia, Increased hematocrit, Increased circulating renin level, Hypercholesterolemia, Eleva... |
ORPHA:90041 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Cardiomyopathy, Ventricular tachycardia, Sudden cardiac death |
OMIM:612124 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... |
OMIM:610193 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Splenomegaly |
ORPHA:172 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
Marburg Hemorrhagic Fever |
|
Subconjunctival hemorrhage, Hypokalemia, Elevated circulating creatinine concentration, Lymphopen... |
ORPHA:99826 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Sickle Cell Anemia |
|
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... |
ORPHA:232 |
Neonatal Lupus Erythematosus |
|
Pancytopenia, Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Neutropenia, Abnormal heart morph... |
ORPHA:398124 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Increased C-peptide level, Lethargy, Palpitations, S... |
ORPHA:324575 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Pulmonary embolism, Hypoalbuminem... |
ORPHA:567548 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:370 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Splenomegaly, Anemia, Pericarditis, Abnormal hemoglobin |
ORPHA:163596 |
Stiff-Person Syndrome |
|
Opisthotonus, Anemia, Hypertension, Exaggerated startle response, Tachycardia |
OMIM:184850 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Mucosal telangiectasiae, Arrhythmia, Bundle branch block, Elevated c... |
ORPHA:93672 |
Cholera |
|
Hypokalemia, Hypovolemic shock, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hyp... |
ORPHA:173 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Low pulse pressure, Hypoalbuminemia, Incre... |
ORPHA:86816 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia |
OMIM:618348 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Lethargy, Tremor |
ORPHA:276608 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... |
OMIM:607450 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97289 |
Danon Disease |
|
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... |
OMIM:300257 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acquired Methemoglobinemia |
|
Arrhythmia, Palpitations, Syncope, Tachycardia, Methemoglobinemia |
ORPHA:464453 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Diamond-Blackfan Anemia 6 |
|
Tetralogy of Fallot, Macrocytic anemia, Mitral regurgitation, Atrial septal defect, Increased mea... |
OMIM:612561 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia |
OMIM:601198 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hyperkalemia, Hypocalcemia, Hypotens... |
ORPHA:466650 |
Smith-Magenis Syndrome |
|
Abnormal heart morphology, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Ataxia, Hypercholesterolemia |
ORPHA:263501 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyopathy, Hyper... |
ORPHA:369837 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin, T... |
ORPHA:90037 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdura... |
ORPHA:99827 |
Fabry Disease |
|
Abnormal myocardium morphology, Abnormal endocardium morphology, Hyperlipidemia, Mucosal telangie... |
ORPHA:324 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... |
OMIM:615344 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... |
OMIM:601678 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypocalcemia, Sudden cardiac death, Hypocalcemi... |
ORPHA:73224 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, C... |
ORPHA:264580 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Ventricular septal defect |
OMIM:126320 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... |
ORPHA:36234 |
Histiocytoid Cardiomyopathy |
|
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... |
ORPHA:137675 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Sheehan Syndrome |
|
Orthostatic hypotension, Hyponatremia, Bradycardia, Decreased circulating cortisol level, Palpita... |
ORPHA:91355 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Parathyroid Carcinoma |
|
Shortened QT interval, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... |
ORPHA:860 |
Ethylene Glycol Poisoning |
|
Congestive heart failure, Hyperkalemia, Hypocalcemia, Hypotension, Ataxia, Atrial fibrillation, H... |
ORPHA:31826 |
Rh Deficiency Syndrome |
|
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Spherocytosis, He... |
ORPHA:71275 |
Aortic Arch Interruption |
|
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... |
ORPHA:2299 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Cardiomyopathy, Dilated, 1Y |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:611878 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
Alpha-Thalassemia |
|
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism |
ORPHA:846 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231226 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Bradycardia, Inability to walk, Difficulty walking |
ORPHA:70 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Tachycardia, Hypokalemia |
OMIM:613239 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Acanthocytosis, Normochromic anemia, Increased circul... |
ORPHA:97280 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia, Hypokalemia |
OMIM:188580 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteinemia |
ORPHA:29073 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Hypochromic microcytic anemia, Increased circulating ... |
ORPHA:97283 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... |
ORPHA:90362 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Tachycardia |
OMIM:614653 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Decreased ci... |
OMIM:207750 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Portal hypertension, Increased serum bile acid concentration, Hyperch... |
OMIM:619662 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Hypercalcemia, Hypophosphatemia, Difficulty walking, Increased circulating cortiso... |
ORPHA:249 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:146200 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Anemia, Methemoglobinemia |
OMIM:613977 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... |
ORPHA:1055 |
Glossopharyngeal Neuralgia |
|
Syncope, Bradycardia, Jaw claudication |
ORPHA:221098 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Mitral regurgitation, Hypercholesterolemia, Congestive heart failure, Intracranial hemorrhage, Hy... |
ORPHA:363618 |
Relapsing Fever |
|
Leukopenia, Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated c... |
ORPHA:91547 |
Yellow Fever |
|
Leukocytosis, Elevated circulating creatinine concentration, Reduced ejection fraction, Shock, Ne... |
ORPHA:99829 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia, ... |
OMIM:618183 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... |
ORPHA:3093 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... |
ORPHA:405 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Anemia, Hypocalcemia |
ORPHA:53 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Leukocytosis, High-output congestive heart failure, Splenomegaly, Increased H... |
ORPHA:231222 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... |
OMIM:611875 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... |
ORPHA:412 |
Gitelman Syndrome |
|
Prolonged PR interval, Abnormal T-wave, Hypokalemia, Ventricular fibrillation, Hypocalcemia, ST s... |
ORPHA:358 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:93324 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly, Hypercholesterolemia |
ORPHA:79237 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Oculogyric crisis, Blepharospasm, Athetosis, Hypotension, Limb dystonia, Lethargy, Limb tremor, E... |
OMIM:608643 |
Snakebite Envenomation |
|
Hyponatremia, Cardiogenic shock, Hypotension, Thrombocytopenia, Myocardial infarction, Cerebral i... |
ORPHA:449285 |
Lysinuric Protein Intolerance |
|
Anemia, Thrombocytopenia, Hyperammonemia, Decreased HDL cholesterol concentration, Increased circ... |
ORPHA:470 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Hypertension associated with pheochromocytoma, Hypercalcemia, Palpitations |
ORPHA:653 |
Williams Syndrome |
|
Hypertension, Ventricular septal defect, Mitral regurgitation, Cardiomegaly, Tremor, Overriding a... |
ORPHA:904 |
Mercury Poisoning |
|
Hypokalemia, Dystonia, Hypotension, Hypertension, Tachycardia, Tremor |
ORPHA:330021 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Dysmetria, Inability to walk, Ataxia, Right bundle branch block, Mitral regurgitation, Tricuspid ... |
OMIM:619576 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Arrhythmia, Abnormal mitral... |
ORPHA:500 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Anemia, Hypocalcemia, Thrombocytopenia |
ORPHA:47 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration |
OMIM:179800 |
Lysosomal Acid Lipase Deficiency |
|
Hypovolemia, Hepatosplenomegaly, Hyponatremia, Vacuolated lymphocytes, Hypercholesterolemia, Hype... |
ORPHA:275761 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia |
ORPHA:231401 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Epistaxis, Polycythemia |
ORPHA:90042 |
Ppoma |
|
Increased circulating cortisol level, Gastrointestinal hemorrhage, Hypercalcemia |
ORPHA:97278 |
Cardiogenic Shock |
|
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated circulating cre... |
ORPHA:97292 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Elevated circulating creatine kinase concentration, Tachycardia, Highly elevated creatine kinase,... |
ORPHA:368 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... |
OMIM:613426 |
Pearson Syndrome |
|
Pancytopenia, Hypoplastic spleen, Hypokalemia, Hypocalcemia, Splenomegaly, Ataxia, Neutropenia, A... |
ORPHA:699 |
Sarcoidosis |
|
Eosinophilia, Leukopenia, Portal hypertension, Hypercalcemia, Increased T cell count, Arrhythmia,... |
ORPHA:797 |
Vipoma |
|
Normochromic anemia, Hypokalemia, Increased circulating cortisol level, Hypercalcemia |
ORPHA:97282 |
Zollinger-Ellison Syndrome |
|
Hematochezia, Increased circulating cortisol level, Gastrointestinal hemorrhage, Hypercalcemia |
ORPHA:913 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... |
ORPHA:79444 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia, Hyperbilirubinemia, Lethargy |
OMIM:218700 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Abnormal circulating protein concentration, Elevated carcinoembryonic antigen level |
ORPHA:264675 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Tachycardia, Palpitations |
OMIM:602668 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, H... |
ORPHA:79240 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance |
ORPHA:819 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Primary hypercortisolism, Lethargy, Hematemesis, Hypertension, Melena, Shortened Q... |
ORPHA:652 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Lethargy, Tachycardia, Abnormal circulating fatty-acid concentration, T... |
ORPHA:263455 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Hyperlipoproteinemia, Type I |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... |
OMIM:238600 |
Grfoma |
|
Increased circulating cortisol level, Gastrointestinal hemorrhage, Hypercalcemia |
ORPHA:97261 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Bradycardia, Paroxysmal supraventricular tachycardia |
OMIM:601375 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Elevated circulating creatine ki... |
OMIM:253800 |
Marbach-Rustad Progeroid Syndrome |
|
Ventricular septal hypertrophy, Pulmonary insufficiency, Right bundle branch block, Intention tremor |
OMIM:619322 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Imerslund-Gräsbeck Syndrome |
|
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Accessory spleen, Hypercholesterolemia, Splenomegaly, Tricuspid re... |
OMIM:300972 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Hypochromic microcytic anemia, Hy... |
OMIM:259720 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypercalcemia |
OMIM:131100 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Syncope, Tachycardia, Premature ventricular contraction |
OMIM:192445 |
Megalocornea-Mental Retardation Syndrome |
|
Ataxia, Hypercholesterolemia |
OMIM:249310 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Arrhythmia, Reduced ejection fraction, Hypotension... |
ORPHA:542323 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia, Ataxia |
OMIM:618476 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia, Gait disturbance |
ORPHA:93160 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Hypercholesterolemia |
ORPHA:2479 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Hypercholesterolemia |
ORPHA:69663 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Abnormal left ventricular function, Hypercholesterolemia, Sudden cardiac death, M... |
ORPHA:391665 |
Malignant Hyperthermia Of Anesthesia |
|
Ventricular tachycardia, Premature ventricular contraction, High-output congestive heart failure,... |
ORPHA:423 |
Cardiac Diverticulum |
|
Tricuspid atresia, Premature ventricular contraction, Dextrocardia, Mitral stenosis, Ventricular ... |
ORPHA:1686 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hypocalcemia, Anemia, Intracranial hemorrhage, Hyperbilirubinemia, Ventricu... |
ORPHA:163979 |
Congenital Fibrinogen Deficiency |
|
Opisthotonus, Splenic rupture, Right ventricular hypertrophy, Tachycardia, Left ventricular hyper... |
ORPHA:335 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... |
ORPHA:79443 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia |
OMIM:250800 |
Sandhoff Disease |
|
Orthostatic hypotension, Hepatosplenomegaly, Ataxia, Exaggerated startle response, Cardiomegaly |
OMIM:268800 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Mitral valve prolapse |
ORPHA:1563 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:2457 |
Bohring-Opitz Syndrome |
|
Bradycardia, Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology |
ORPHA:97297 |
Stiff Person Spectrum Disorder |
|
Falls, Difficulty walking, Exaggerated startle response |
ORPHA:3198 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Hypocalcemia, Ataxia, Iron deficiency anemia, Macrocytic anemia, Steatorrhea |
OMIM:212750 |
Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... |
OMIM:610629 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Steinert Myotonic Dystrophy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Prolonged Q... |
ORPHA:273 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Hypocalcemia, Splenomegaly, Pulmonary arterial hypertension,... |
ORPHA:667 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Patent foramen ovale |
OMIM:607143 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... |
ORPHA:1677 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly, Ventricular septal defect |
OMIM:235255 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... |
ORPHA:37042 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Hypercholesterolemia, Chronic neutropenia, Hyperuricemia, Xanthelasma, Anemia, Hy... |
ORPHA:79259 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Neutropenia, Anemia, Cardiomyopathy, Heart block, Abnormal cardiac septum morphology |
ORPHA:175 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypophosphatemia, Difficulty walking, Hypocalcemic seizures |
ORPHA:289157 |
Williams-Beuren Syndrome |
|
Myxomatous mitral valve degeneration, Portal hypertension, Coronary artery stenosis, Hypercalcemi... |
OMIM:194050 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal blood ion concentration, Dilated cardiomyopathy, Bradycardia, Anemia |
ORPHA:79404 |
Juvenile Nephropathic Cystinosis |
|
Hypovolemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcem... |
ORPHA:411634 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia, Gait disturbance |
ORPHA:352540 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Hypertension, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:151660 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Dilated cardiomyopathy, Tachycardia |
OMIM:615821 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis, Limb dystonia |
ORPHA:621 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:276152 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension |
ORPHA:79155 |
Tay-Sachs Disease |
|
Dysmetria, Dystonia, Increased serum beta-hexosaminidase, Inability to walk, Gait disturbance, La... |
ORPHA:845 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Tachycardia, Chronic lymphat... |
ORPHA:90033 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
Infection-Related Hemolytic Uremic Syndrome |
|
Leukocytosis, Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis, Hypertensive crisis, Hemolyt... |
ORPHA:544482 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Ventricular septal defect |
ORPHA:1655 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anemi... |
ORPHA:2785 |
Cocaine Intoxication |
|
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Elevated circulatin... |
ORPHA:90068 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cardiac arrest, Elevated circulating creatinine concentration, Left-to-right shunt, Dextrocardia,... |
OMIM:619534 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... |
ORPHA:98849 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart fa... |
OMIM:617403 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Hypocalcemia, Asplenia |
OMIM:602361 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Nestor-Guillermo Progeria Syndrome |
|
Right atrial enlargement, Sinus tachycardia, Right bundle branch block, Pulmonary arterial hypert... |
OMIM:614008 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bu... |
OMIM:151100 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia, Lethargy |
ORPHA:226307 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Broad-based gait, Exaggerated startle response |
ORPHA:438216 |
Absence Of The Pulmonary Artery |
|
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... |
ORPHA:980 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|