Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... |
OMIM:161900 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... |
OMIM:617610 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Denys-Drash Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma |
ORPHA:220 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Trimethylaminuria |
OMIM:602079 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction |
OMIM:608320 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy |
OMIM:105200 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology |
OMIM:123550 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re... |
OMIM:603278 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure... |
ORPHA:275555 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... |
ORPHA:225 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Myocardial infarction |
OMIM:610947 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Renal insufficiency, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... |
OMIM:612925 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia |
OMIM:173900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612924 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612926 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Coproporphyria, Hereditary |
|
Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Liddle Syndrome 1 |
|
Hypertension, Renal insufficiency |
OMIM:177200 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... |
OMIM:602088 |
Hyperaldosteronism, Familial, Type I |
|
Hypertension, Abnormality of the urinary system |
OMIM:103900 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Hypospadias, Renal salt wasting |
OMIM:201910 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper... |
OMIM:614473 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Nephropathy, Hypertension |
ORPHA:820 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Myocardial infarction |
OMIM:615703 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... |
OMIM:618913 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Hypertension |
ORPHA:1192 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Nephroblastoma |
|
Hematuria, Hypertension, Nephroblastoma |
ORPHA:654 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... |
OMIM:166300 |
Glutaric Aciduria Iii |
|
Glutaric aciduria, Hypertension |
OMIM:231690 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension |
ORPHA:71529 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis, Nephroblastoma |
ORPHA:52022 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor... |
OMIM:613159 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Hypertension, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... |
ORPHA:94080 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... |
ORPHA:36382 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Cardiomyopathy, Hypertension |
ORPHA:767 |
Rhabdoid Tumor |
|
Hematuria, Renal neoplasm, Hypertension, Internal hemorrhage |
ORPHA:69077 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Hypertension, Polyuria |
OMIM:613677 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension |
ORPHA:79084 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... |
ORPHA:411709 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hyperten... |
OMIM:613095 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Coach Syndrome 2 |
|
Hypertension, Hyperechogenic kidneys |
OMIM:619111 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephritis |
OMIM:614034 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension |
OMIM:613877 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... |
ORPHA:320 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension |
ORPHA:280356 |
Stiff Skin Syndrome |
|
Hypertension, Nephrolithiasis |
ORPHA:2833 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202110 |
Multiple Endocrine Neoplasia, Type Iia |
|
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... |
OMIM:171400 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Acute kidney injury, Proteinuria, Cerebral hemorrhage |
OMIM:618886 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh... |
ORPHA:136 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposit... |
ORPHA:85450 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... |
ORPHA:3287 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... |
ORPHA:231625 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Myocardial infarction |
OMIM:208060 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Micropenis, Tachycardia |
OMIM:613870 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension |
OMIM:608600 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:330021 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Hypertension |
OMIM:615954 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... |
ORPHA:91139 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:276621 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:567546 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... |
ORPHA:84081 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis, Increased urinary potassium |
ORPHA:231580 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Myocardial infarction |
OMIM:618620 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Tetanus |
|
Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens... |
ORPHA:3299 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Epistaxis, Renal cortical adenoma |
ORPHA:231632 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension |
ORPHA:110 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... |
OMIM:617595 |
Apparent Mineralocorticoid Excess |
|
Hypertension |
OMIM:218030 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Cardiomyopathy |
OMIM:102200 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension |
OMIM:615238 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension |
OMIM:615980 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... |
ORPHA:183 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine |
OMIM:215600 |
Riboflavin Transporter Deficiency |
|
Hypertension |
ORPHA:97229 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury |
OMIM:235400 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr... |
OMIM:216360 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Glucocorticoid Resistance, Generalized |
|
Hypertension |
OMIM:615962 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... |
ORPHA:369929 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:617021 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Second degree atrioventricular block, Nephrolithiasis, Pulmonary arterial hypertension |
OMIM:615474 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:29072 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypocalciuria, Renal sodium wasting, Renal ... |
OMIM:612780 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... |
ORPHA:31826 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte... |
OMIM:208000 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar... |
ORPHA:220393 |
Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu... |
ORPHA:1830 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis, Portal hypert... |
OMIM:619487 |
Porphyria Variegata |
|
Neurogenic bladder, Tachycardia, Chronic kidney disease, Porphyrinuria, Increased urinary porphob... |
ORPHA:79473 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar... |
ORPHA:251004 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T... |
ORPHA:247691 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Foca... |
OMIM:242900 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension |
ORPHA:363400 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence |
ORPHA:75567 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Glomerulopathy, Hypertension |
ORPHA:2169 |
Acute Intermittent Porphyria |
|
Dark urine, Renal insufficiency, Tachycardia, Dysuria, Urinary incontinence, Porphyrinuria, Incre... |
ORPHA:79276 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:43116 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... |
ORPHA:90068 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru... |
OMIM:232200 |
Sickle Cell Disease |
|
Hematuria, Hypertension, Renal insufficiency |
OMIM:603903 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension |
ORPHA:77296 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi... |
OMIM:115310 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Focal segmental glomerulosclerosi... |
OMIM:232240 |
Familial Dysautonomia |
|
Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormality of the kid... |
ORPHA:1764 |
Fabry Disease |
|
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Bundle branch block, Proteinuri... |
ORPHA:324 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Myocardial infarction |
OMIM:615812 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Bartter Syndrome Type 4 |
|
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... |
ORPHA:89938 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Alstrom Syndrome |
|
Renal insufficiency, Congestive heart failure, Dilated cardiomyopathy, Tubulointerstitial nephrit... |
OMIM:203800 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension |
OMIM:604367 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension |
OMIM:615830 |
Overlap Myositis |
|
Raynaud phenomenon, Hypertension, Abnormality of the kidney, Pulmonary arterial hypertension |
ORPHA:206572 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Alagille Syndrome |
|
Telangiectasia of the skin, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndro... |
ORPHA:52 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Hypertension, Abnormality of urine homeostasis, Palpitations |
ORPHA:1501 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru... |
OMIM:232220 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension |
OMIM:617763 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage |
OMIM:300845 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Wagro Syndrome |
|
Hypertension, Nephroblastoma, Proteinuria |
OMIM:612469 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Hypertension |
OMIM:610489 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Renal cyst |
OMIM:614424 |
Spondyloenchondrodysplasia |
|
Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension |
ORPHA:1855 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia |
ORPHA:525731 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:79083 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Hypertension, Bradycardia, Hy... |
ORPHA:94093 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Nephrolithiasis |
OMIM:219090 |
Lead Poisoning |
|
Renal tubular dysfunction, Tubulointerstitial nephritis, Chronic kidney disease, Hypertension |
ORPHA:330015 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension |
OMIM:610475 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Proteinuria, Hypertension, Abnormal cardiovascular system physiology |
ORPHA:79086 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... |
ORPHA:447 |
Xfe Progeroid Syndrome |
|
Hypertension, Renal insufficiency, Proteinuria |
OMIM:610965 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Urinary bladder sphincter dysfunction, Hypertension, Hypotension |
ORPHA:93256 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... |
ORPHA:900 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:614052 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Ketonuria, Hypotension |
ORPHA:134 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai... |
ORPHA:466677 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul... |
ORPHA:892 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Renal cell carcinoma, Multiple renal cysts |
OMIM:193300 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype... |
ORPHA:902 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery stenosis, Hydroneph... |
OMIM:617913 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Intracranial hemorrhage, Hypertension, Increased urinary 11-deoxy... |
ORPHA:90795 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Nephrocal... |
ORPHA:90041 |
Seckel Syndrome 10 |
|
Hypertension, Congestive heart failure, Glycosuria |
OMIM:617253 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hypertension, Renal cell carcinoma, Nephrolithiasis |
ORPHA:189427 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Papillary renal cell carcinoma, Hypertension, Intracranial hemorrhage, ... |
ORPHA:363618 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury |
ORPHA:90038 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Alkaptonuria |
|
Hypertension, Aminoaciduria, Nephrolithiasis, Myocardial infarction |
ORPHA:56 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... |
OMIM:609049 |
Acute Interstitial Pneumonia |
|
Hypertension |
ORPHA:79126 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Cockayne Syndrome Type 1 |
|
Hypertension, Renal insufficiency, Proteinuria |
ORPHA:90321 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension |
ORPHA:449291 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... |
ORPHA:544482 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficiency, Portal hype... |
ORPHA:731 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension |
ORPHA:69663 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension |
ORPHA:98808 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... |
ORPHA:99827 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R... |
ORPHA:48435 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... |
OMIM:208050 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... |
ORPHA:91387 |
Hurler Syndrome |
|
Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris |
ORPHA:93473 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval |
OMIM:614947 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Epistaxis, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Hypert... |
ORPHA:79259 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Hypertension, Ischemic stroke |
ORPHA:542643 |
Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Micropenis, Hypospadias, Increased urinary 11-deoxycorticosterone level |
ORPHA:90793 |
Nelson Syndrome |
|
Increased urinary cortisol level, Hypertension, Intracranial hemorrhage |
ORPHA:199244 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Hydr... |
OMIM:616580 |
Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Long penis |
OMIM:202010 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... |
OMIM:181270 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Hypercalciuria, Neph... |
ORPHA:653 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Hypertension |
ORPHA:786 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hypospadias |
OMIM:123790 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopath... |
OMIM:615688 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hypertension, Nephronophthisis,... |
OMIM:266920 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Alexander Disease |
|
Hypotension, Hypertension, Sudden cardiac death |
ORPHA:58 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, Micropenis, Abnormality of the kidney |
OMIM:209900 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret... |
ORPHA:139417 |
Myhre Syndrome |
|
Abnormal penis morphology, Epispadias, Hypospadias, Hypertension |
ORPHA:2588 |
Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Vasculitis, Hematochezia, Nephrotic syndrome, Hypertension, Hypertrophic cardiomyopathy |
OMIM:615846 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation, Hypospadias |
OMIM:611962 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Renal steatosis, Heart murmur, Abno... |
ORPHA:391665 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis |
ORPHA:2750 |
Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Stage 5 chronic kidney disease, Large vessel vascu... |
ORPHA:90340 |
Hallermann-Streiff Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Xq21 Microdeletion Syndrome |
|
Hypertension, Renal artery stenosis |
ORPHA:1435 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Hypertension, Abnormality... |
ORPHA:95699 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis |
OMIM:133540 |
Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis |
OMIM:216400 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Low urinary cyclic AMP response to PTH administration |
ORPHA:79443 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Orofaciodigital Syndrome I |
|
Hypertension, Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
Prader-Willi Syndrome |
|
Hypertension |
ORPHA:739 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... |
ORPHA:91347 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension |
OMIM:151660 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Portal hypertension, Abnormal renal morp... |
OMIM:194050 |
Williams Syndrome |
|
Hypoplasia of penis, Myocardial infarction, Abnormal tubulointerstitial morphology, Nephrocalcino... |
ORPHA:904 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... |
ORPHA:217085 |
Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction |
OMIM:602535 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... |
ORPHA:217093 |
Cranioectodermal Dysplasia 2 |
|
Hypertension, Renal insufficiency, Renal cyst |
OMIM:613610 |
Neurofibromatosis, Type I |
|
Hypertension, Renal artery stenosis |
OMIM:162200 |
Acromegaly |
|
Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:963 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... |
OMIM:619573 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula |
OMIM:300896 |
Adams-Oliver Syndrome 1 |
|
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:100300 |
Cushing Disease |
|
Increased urinary cortisol level, Hypertension, Capillary fragility, Myocardial infarction |
ORPHA:96253 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertension, Orthostatic hypotension, Polyuria, Pulmonary arterial hypertension |
OMIM:606721 |
Somatomammotropinoma |
|
Hypertension, Mitral regurgitation, Dysuria, Hypertrophic cardiomyopathy |
ORPHA:314769 |
Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Shortened QT interval, Hypercalciuria, Nephrolithiasis, Melena, Hypertension |
ORPHA:652 |
Yunis-Varon Syndrome |
|
Hypospadias, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Pulm... |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Transient ischemic attack, Left ventricular systolic dysfunction, Retinal hemo... |
ORPHA:51608 |
Myhre Syndrome |
|
Hypertension, Aortic valve stenosis |
OMIM:139210 |
Mucopolysaccharidosis Type 2 |
|
Cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:580 |
Atypical Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Congestive heart failure, Hypertension, Glycosuria, A... |
ORPHA:79474 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,... |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,... |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,... |
ORPHA:99226 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ketonuria, Hypospadias, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
OMIM:220111 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Micropenis |
OMIM:210710 |
Neurofibromatosis Type 1 |
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Hypertension, Abnormality of the upper urinary tract |
ORPHA:636 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Hypospadias, Renal hypoplasia, Multiple renal cysts, Polycystic kidn... |
ORPHA:567 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Hypertensio... |
OMIM:308205 |
17Q11 Microdeletion Syndrome |
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Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo... |
ORPHA:97685 |
Keutel Syndrome |
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Hypertension, Pulmonic stenosis |
OMIM:245150 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hypospadias, Horseshoe kidney, Micropenis, Hypertension, Chordee, Vesicovaginal fistula |
OMIM:201750 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Hypertension, Capillary fragility, Myocardial infarction |
ORPHA:99889 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cystocele, Renovascular hyper... |
ORPHA:286 |
Alström Syndrome |
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Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... |
ORPHA:64 |
Carney Complex |
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Hypertension, Congestive heart failure |
ORPHA:1359 |