| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Lactate Dehydrogenase B Deficiency |
|
Reduced lactate dehydrogenase B level |
OMIM:614128 |
| Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
| Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal enzyme/coenzyme activity |
OMIM:125460 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... |
OMIM:614817 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... |
OMIM:108770 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... |
OMIM:174000 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... |
OMIM:619402 |
| Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... |
OMIM:612158 |
| Uridine-Cytidineuria |
|
Elevated uridine in urine, Elevated urinary cytidine |
OMIM:618477 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Medullary cystic kidney disease 2 |
|
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Gout, Renal corticomedullar... |
OMIM:603860 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:612098 |
| Nephronophthisis 20 |
|
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613690 |
| Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang... |
OMIM:616818 |
| Atrial Fibrillation, Familial, 4 |
|
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... |
OMIM:611493 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... |
OMIM:613237 |
| Cardiomyopathy, Dilated, 1A |
|
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... |
OMIM:115200 |
| Nail-Patella-Like Renal Disease |
|
Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... |
OMIM:603965 |
| Cardiomyopathy, Dilated, 1E |
|
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... |
OMIM:601154 |
| Nephronophthisis 18 |
|
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... |
OMIM:615862 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... |
OMIM:614954 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... |
ORPHA:93109 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Hypertension, Microscopic hematuria, Stage 5 chron... |
OMIM:161900 |
| Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia |
OMIM:612124 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... |
OMIM:613944 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... |
OMIM:611528 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... |
OMIM:604145 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
| Cardiomyopathy, Dilated, 1Kk |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... |
OMIM:615248 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Ventricular fibrillation, Tachycardia, Syncope |
OMIM:603829 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy |
OMIM:611771 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... |
OMIM:610193 |
| Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... |
OMIM:617912 |
| Brugada Syndrome |
|
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... |
ORPHA:130 |
| Brugada Syndrome 1 |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... |
OMIM:601144 |
| Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
| Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Elevated circulating creatinine concentration, Uveitis, Reversible renal failure, Glo... |
OMIM:607665 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... |
OMIM:614022 |
| Left Ventricular Noncompaction 1 |
|
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... |
OMIM:604169 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Hypertension, Microscopic hematuria, Stage 5... |
OMIM:137950 |
| Cardiomyopathy, Dilated, 1D |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... |
OMIM:601494 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... |
ORPHA:45453 |
| Atrial Fibrillation, Familial, 13 |
|
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement |
OMIM:615377 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... |
OMIM:616117 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left atrial enlargement, Mitral regurgitation, Congestive heart failure, Atrial fibrillation |
OMIM:617047 |
| Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... |
OMIM:613485 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... |
OMIM:604772 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation |
OMIM:617280 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... |
OMIM:613838 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Hyperte... |
ORPHA:567544 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... |
OMIM:613873 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613874 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... |
OMIM:601894 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia |
OMIM:192605 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... |
ORPHA:99105 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... |
OMIM:604400 |
| Heart-Hand Syndrome, Slovenian Type |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... |
ORPHA:168796 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease |
OMIM:266900 |
| Nephronophthisis 2 |
|
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... |
OMIM:602088 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Hydroxykynureninuria |
|
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria |
OMIM:236800 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Syncope, Cardiac arrest, Ventricular tachycardia |
OMIM:614916 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613876 |
| Nephronophthisis 1 |
|
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... |
OMIM:256100 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... |
OMIM:613243 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... |
OMIM:616201 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... |
OMIM:607450 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Attention deficit hyperactivity disorder |
OMIM:245570 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis |
OMIM:162000 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... |
OMIM:614980 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Bradycardia, Ventricular tachycardia |
OMIM:611938 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Syncope, Prolonged QT interval, Ventricular tachycardia |
OMIM:614021 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... |
ORPHA:300751 |
| Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:606996 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Trimethylaminuria |
|
Recurrent pneumonia, Tachycardia, Hypertension, Trimethylaminuria |
OMIM:602079 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... |
OMIM:618920 |
| Long Qt Syndrome 10 |
|
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... |
OMIM:611819 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... |
OMIM:600858 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Familial Dilated Cardiomyopathy |
|
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... |
ORPHA:217607 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... |
OMIM:614376 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... |
OMIM:608758 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... |
OMIM:161950 |
| Focal Segmental Glomerulosclerosis 8 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:616032 |
| Nephrotic Syndrome, Type 20 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:301028 |
| Nephrotic Syndrome, Type 19 |
|
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... |
OMIM:618178 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... |
OMIM:615441 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity |
OMIM:613375 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation |
OMIM:615770 |
| Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
| Variegate Porphyria |
|
Tachycardia, Porphyrinuria |
OMIM:176200 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... |
ORPHA:228302 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia |
OMIM:611878 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease |
OMIM:616629 |
| Wolff-Parkinson-White Syndrome |
|
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... |
OMIM:194200 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy |
OMIM:107970 |
| Urofacial Syndrome 2 |
|
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... |
OMIM:615112 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
| Coach Syndrome 3 |
|
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... |
OMIM:619113 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... |
ORPHA:617 |
| Ebstein Anomaly |
|
Atrial septal defect, Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden c... |
OMIM:224700 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... |
OMIM:611555 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... |
OMIM:163800 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
| Joubert Syndrome 4 |
|
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology |
OMIM:609583 |
| Aapoaiv Amyloidosis |
|
Cardiac conduction abnormality, Renal amyloidosis, Abnormal cardiac ventricular function, Elevate... |
ORPHA:439232 |
| Renal Glucosuria |
|
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia |
OMIM:233100 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Organic aciduria, Supraventricular tachycardi... |
OMIM:255100 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... |
OMIM:616002 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Infantile hypercalcemia, Neph... |
OMIM:143880 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Primary Membranoproliferative Glomerulonephritis |
|
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Hypertension, Microscopic... |
ORPHA:54370 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Familial Short Qt Syndrome |
|
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... |
ORPHA:51083 |
| Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... |
OMIM:618176 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Senior-Loken Syndrome |
|
Nephronophthisis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Premature... |
ORPHA:3156 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
| Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Hyperaldosteronism |
OMIM:619406 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... |
ORPHA:93101 |
| C3 Glomerulopathy |
|
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... |
ORPHA:329918 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... |
OMIM:618782 |
| Preeclampsia |
|
Acute kidney injury, Elevated systolic blood pressure, Elevated circulating creatinine concentrat... |
ORPHA:275555 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... |
OMIM:602086 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope |
OMIM:600919 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Diabetes Insipidus, Neurohypophyseal Type |
|
Hypokalemia, Polyuria, Central diabetes insipidus, Hydronephrosis |
OMIM:304900 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... |
OMIM:256020 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... |
OMIM:617805 |
| Denys-Drash Syndrome |
|
Hypertension, Nephropathy, Nephroblastoma, Nephrotic syndrome, Proteinuria |
ORPHA:220 |
| Fibronectin Glomerulopathy |
|
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... |
ORPHA:84090 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Polyphagia, Hypertension, Type II diabetes mellitus, Increased adipose tissue, ... |
ORPHA:71529 |
| Nephronophthisis 4 |
|
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... |
OMIM:606966 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619201 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... |
ORPHA:976 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... |
OMIM:609621 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:601820 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Long Qt Syndrome 15 |
|
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... |
OMIM:108900 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Hypote... |
ORPHA:369873 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Palpitations, Hy... |
ORPHA:276575 |
| Short Qt Syndrome 1 |
|
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... |
OMIM:609620 |
| Coproporphyria, Hereditary |
|
Tachycardia, Increased urinary porphobilinogen, Hypertension, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys |
OMIM:617610 |
| Hereditary Renal Hypouricemia |
|
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... |
ORPHA:94088 |
| Adrenocortical Carcinoma |
|
Abnormality of urine homeostasis, Increased urinary cortisol level, Palpitations, Abnormal circul... |
ORPHA:1501 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... |
OMIM:602087 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypertension, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Polydipsia |
OMIM:613677 |
| Brugada Syndrome 3 |
|
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... |
OMIM:611875 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... |
ORPHA:276580 |
| Nephronophthisis 3 |
|
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... |
OMIM:604387 |
| Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Neonatal hypoglycemia |
OMIM:240900 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... |
OMIM:613496 |
| Nephronophthisis 16 |
|
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:615382 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... |
OMIM:601493 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease |
OMIM:614377 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Pulmonary arterial hypertension, Chron... |
OMIM:613845 |
| Birk-Landau-Perez Syndrome |
|
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia, Hyperechogenic kidneys |
OMIM:617595 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperglycinemia, Tubulointerstitial nephritis, Methylmalonic aciduria, Methylmalonic acidemia, Pa... |
OMIM:251000 |
| Atrial Standstill |
|
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... |
ORPHA:1344 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Hyponatremia, Increased circulating renin level, Decr... |
OMIM:610600 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreati... |
ORPHA:276556 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:605115 |
| Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation |
OMIM:613980 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation |
OMIM:614049 |
| Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation |
OMIM:612201 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
| Xanthinuria, Type I |
|
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis |
OMIM:278300 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... |
ORPHA:79233 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... |
ORPHA:293964 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Gonadotropin deficiency, Polyphagia, Hyperinsulinemia, Pituitary hypothyro... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Gonadotropin deficiency, Polyphagia, Hyperinsulinemia, Pituitary hypothyro... |
ORPHA:71526 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... |
ORPHA:324575 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function |
OMIM:609909 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbuminemia, Nephrotic synd... |
ORPHA:255249 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... |
ORPHA:1880 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... |
ORPHA:730 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... |
OMIM:143400 |
| Thrombotic Thrombocytopenic Purpura |
|
Arrhythmia, Hematuria, Acute kidney injury, Myocardial infarction, Decreased serum creatinine, Re... |
ORPHA:54057 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Orthostatic hypotension, Recurrent urinary tract infections, Vesicoureteral r... |
OMIM:191800 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617609 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... |
OMIM:616733 |
| Image Syndrome |
|
Hypospadias, Hypogonadism, Hydronephrosis, Adrenal hypoplasia |
ORPHA:85173 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... |
OMIM:608751 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves... |
ORPHA:2704 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... |
OMIM:606995 |
| Progressive Familial Heart Block, Type Ib |
|
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia |
OMIM:618314 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:614676 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis |
OMIM:618270 |
| Pauci-Immune Glomerulonephritis |
|
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Elevated circulating crea... |
ORPHA:93126 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612926 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Hypogonadism, Hypertension |
OMIM:618681 |
| Hypomagnesemia 3, Renal |
|
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, H... |
OMIM:248250 |
| Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Renal insufficiency, Hematuria, Azotemia, Hypertension, Glomerulonephritis, Glo... |
OMIM:104200 |
| Bartter Syndrome, Type 3 |
|
Hypocalciuria, Hypotension, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin syst... |
OMIM:607364 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Long penis, Premature pubarche, Irregular me... |
ORPHA:90795 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Recurrent otitis media, Renal dysplasia, Renal cyst, Renal agenesis, Abnorma... |
OMIM:615993 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... |
OMIM:602522 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis, Hydronephrosis, Hydroureter |
OMIM:264140 |
| Hereditary Xanthinuria |
|
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... |
ORPHA:3467 |
| Hereditary Coproporphyria |
|
Porphyrinuria, Dark urine, Hyponatremia, Nephropathy, Tachycardia, Abnormal circulating porphyrin... |
ORPHA:79273 |
| Tako-Tsubo Cardiomyopathy |
|
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... |
ORPHA:66529 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90793 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... |
OMIM:300971 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... |
ORPHA:75249 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Nephrotic Syndrome, Type 7 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... |
OMIM:613092 |
| Cryoglobulinemia, Familial Mixed |
|
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Hypertension... |
OMIM:123550 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... |
ORPHA:157 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... |
ORPHA:567548 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:617222 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Hypertension, ... |
OMIM:613095 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Congestive heart failure,... |
OMIM:619048 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism |
OMIM:103900 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldos... |
OMIM:177735 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... |
OMIM:600996 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... |
ORPHA:99103 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Dark urine, Elevated circulating creatine kinase concentration, Highly eleva... |
ORPHA:368 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:603278 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... |
ORPHA:45452 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder |
OMIM:617787 |
| Nephrotic Syndrome, Type 10 |
|
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... |
OMIM:615861 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval |
OMIM:612240 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome |
ORPHA:69063 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy |
OMIM:242530 |
| Oligomeganephronia |
|
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... |
ORPHA:2260 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension |
OMIM:615378 |
| Left Ventricular Noncompaction 8 |
|
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... |
OMIM:615373 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... |
ORPHA:84085 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... |
OMIM:308990 |
| Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... |
OMIM:115000 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Tachycardia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hype... |
OMIM:145600 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Nephropathy, Myocardial infarction, Menorrhagia, Renal insuffic... |
ORPHA:182050 |
| Nephronophthisis 11 |
|
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... |
OMIM:613550 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... |
ORPHA:228308 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... |
OMIM:614131 |
| Gitelman Syndrome |
|
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ... |
OMIM:263800 |
| Sjogren Syndrome |
|
Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca |
OMIM:270150 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine, Positive regitine blocking test, Pheochromocytoma, Episodic hype... |
OMIM:171420 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Proteinuria |
OMIM:614034 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
| Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Decreased circu... |
ORPHA:556037 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
| Fechtner syndrome |
|
Hematuria, Menorrhagia, Stage 5 chronic kidney disease, Nephritis, Proteinuria |
OMIM:153640 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Hematuria, Hypertension, Glomerular basement membrane lamellation, Stage 5 c... |
OMIM:203780 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Jeune Syndrome |
|
Nephronophthisis, Renal insufficiency, Nephropathy |
ORPHA:474 |
| Renal Nutcracker Syndrome |
|
Infertility, Hematuria, Orthostatic hypotension, Syncope, Dyspareunia, Microscopic hematuria, Tac... |
ORPHA:71273 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Cardiomyopathy, Dilated, 1R |
|
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... |
OMIM:613424 |
| Vesicoureteral Reflux 3 |
|
Vesicoureteral reflux, Hydronephrosis, Hydroureter |
OMIM:613674 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria |
OMIM:105200 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Partial Atrioventricular Septal Defect |
|
Palpitations, Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Angina pect... |
ORPHA:1330 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nephritis |
ORPHA:3327 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension |
OMIM:608320 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Budd-Chiari syndro... |
ORPHA:49041 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... |
OMIM:140400 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Polydipsia, Hypertension, Decreased circulating renin level, Hypokalemia, Ab... |
ORPHA:320 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Increased circulating renin ... |
OMIM:203400 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Supraventricular arrhythmia |
ORPHA:320360 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:615573 |
| Dysmyelination With Jaundice |
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Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Atrial Septal Defect, Ostium Primum Type |
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Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... |
ORPHA:99106 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... |
OMIM:613090 |
| Coenzyme Q10 Deficiency, Primary, 7 |
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Dysphagia, Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616276 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Increased circulating renin level, Re... |
OMIM:612780 |
| Posterior Urethral Valve |
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Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Hypertension, Uni... |
ORPHA:93110 |
| Pheochromocytoma |
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Elevated urinary norepinephrine, Positive regitine blocking test, Pheochromocytoma, Episodic hype... |
OMIM:171300 |
| Igg4-Related Kidney Disease |
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Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... |
ORPHA:449395 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
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Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... |
OMIM:610476 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Skin rash, Reduced ejection fraction, Arrhythmia, Acute kidney injury, Increased inflammatory res... |
ORPHA:542323 |
| Leptin Deficiency Or Dysfunction |
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Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Micropenis, Obesity |
OMIM:614962 |
| Liddle Syndrome 2 |
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Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
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Urinary incontinence, Urinary urgency, Hypotension |
OMIM:156310 |
| Early-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Decreased circu... |
ORPHA:556030 |
| Nephronophthisis 19 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616217 |
| Long Qt Syndrome 14 |
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Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... |
OMIM:616247 |
| Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity |
OMIM:300271 |
| Myopathy, Myofibrillar, 1 |
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Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... |
OMIM:601419 |
| 8P23.1 Duplication Syndrome |
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Adrenal insufficiency, Pulmonic stenosis, Hydronephrosis |
ORPHA:251076 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... |
OMIM:310468 |
| Hypocalcemia, Autosomal Dominant 1 |
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Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
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Attention deficit hyperactivity disorder |
OMIM:204750 |
| Long Qt Syndrome 9 |
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Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest |
OMIM:611818 |
| Cardiomyopathy, Dilated, 1Dd |
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Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:613172 |
| Generalized Glucocorticoid Resistance Syndrome |
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Infertility, Increased urinary cortisol level, Increased circulating cortisol level, Oligomenorrh... |
ORPHA:786 |
| Drug Rash With Eosinophilia And Systemic Symptoms |
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Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Hepatitis, Tubulointerst... |
ORPHA:139402 |
| Drug-Induced Autoimmune Hemolytic Anemia |
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Increased total bilirubin, Congestive heart failure, Abnormal urinary color, Tachycardia |
ORPHA:90037 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Hypoglycemic seizures, Adrenal hypoplasia, Polyphagia, Decreased response to growth hormone stimu... |
OMIM:609734 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity |
OMIM:248100 |
| Sick Sinus Syndrome 1 |
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Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... |
OMIM:608567 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
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Renal cyst |
OMIM:138790 |
| Myoglobinuria, Recurrent |
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Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Mental Retardation, Autosomal Recessive 37 |
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Hyperactivity |
OMIM:615493 |
| Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Chronic pancreatitis, Renal tubular atrophy, Renal corticomedullary cysts, Tubu... |
OMIM:613159 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Hyposthenuria, Renal potassium wasting, Low-to-normal blood pressure, Polyur... |
OMIM:601678 |
| Relapsing Fever |
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Increased total bilirubin, Hematuria, Acute kidney injury, Hypotension, Elevated circulating crea... |
ORPHA:91547 |
| Aortic Aneurysm, Familial Thoracic 9 |
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Mitral valve prolapse, Atrial fibrillation |
OMIM:616166 |
| Sotos Syndrome 3 |
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Hyperactivity |
OMIM:617169 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy |
OMIM:604401 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Glomerulopathy, Conjunctivitis, Tubulointerstitial nephritis,... |
ORPHA:33001 |
| Snakebite Envenomation |
|
Cardiogenic shock, Acute kidney injury, Intracranial hemorrhage, Hypotension, Hyponatremia, Epist... |
ORPHA:449285 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease |
OMIM:266920 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Gout, Renal cyst, Chronic kidney ... |
OMIM:617056 |
| Cardiogenic Shock |
|
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... |
ORPHA:97292 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Polydipsia, Megacystis, Polyuria |
OMIM:125800 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity |
OMIM:616657 |
| Collagenoma, Familial Cutaneous |
|
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... |
OMIM:115250 |
| Diabetes Insipidus, Nephrogenic, X-Linked |
|
Hypernatremia, Polydipsia, Megacystis, Polyuria |
OMIM:304800 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst |
OMIM:613390 |
| Alport Syndrome |
|
Hematuria, IgA deposition in the glomerulus |
