Polycystic Kidney Disease 7 |
|
Hypertension, Renal insufficiency, Multiple renal cysts, Stage 5 chronic kidney disease |
OMIM:620056 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis |
OMIM:607832 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... |
OMIM:601894 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Nail-Patella-Like Renal Disease |
|
Hypertension, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... |
OMIM:161900 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... |
OMIM:137950 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis |
OMIM:613944 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... |
OMIM:617610 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hematuria, Hypertension, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616818 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Hyperten... |
ORPHA:3156 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension, Infe... |
OMIM:615703 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Trimethylaminuria |
OMIM:602079 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction |
OMIM:608320 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis |
OMIM:161950 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Myocardial infarction |
OMIM:610947 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Re... |
OMIM:603278 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophi... |
ORPHA:225 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Fibronectin Glomerulopathy |
|
Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic syndrome, Microsco... |
ORPHA:84090 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Hypertension, Nephro... |
ORPHA:567544 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Preeclampsia |
|
Proteinuria, Chronic kidney disease, Elevated diastolic blood pressure, Hypertension, Elevated sy... |
ORPHA:275555 |
Frasier Syndrome |
|
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Primary amenorrhe... |
ORPHA:347 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Infertility, Oligomenorrhea |
ORPHA:280356 |
Ochoa Syndrome |
|
Renal insufficiency, Urinary incontinence, Cryptorchidism, Urethral obstruction, Hypertension, Ve... |
ORPHA:2704 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke |
OMIM:615750 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper... |
OMIM:614473 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Cryptorchidism, Nephrotic syndrome, Hypertension, Nephropathy |
ORPHA:1192 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:329918 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy |
ORPHA:3222 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Oligomenorrhea |
OMIM:613877 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Nephropathy |
ORPHA:820 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis |
ORPHA:52022 |
Denys-Drash Syndrome |
|
Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:220 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... |
OMIM:602088 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Nephronophthisis 18 |
|
Hypertension, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:615862 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Chronic kidney disease, Nephrolit... |
ORPHA:976 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Azoospermia, Hyperte... |
ORPHA:280679 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Renal insufficiency, Polycystic kidney dysplasia |
OMIM:173900 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... |
ORPHA:36382 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Hypospadias, Renal salt wasting |
OMIM:201910 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Primary amenorrhea |
OMIM:202110 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Unilateral renal agenesis, Chronic kidney disea... |
ORPHA:93101 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... |
ORPHA:94080 |
Glucocorticoid Resistance, Generalized |
|
Hypertension, Irregular menstruation, Infertility |
OMIM:615962 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... |
OMIM:610205 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Renal hypoplasia,... |
OMIM:174000 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension |
ORPHA:71529 |
Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... |
ORPHA:3287 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... |
OMIM:618913 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh... |
ORPHA:136 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypertension, Nephrotic syndro... |
ORPHA:110 |
Nephronophthisis 1 |
|
Polyuria, Stage 5 chronic kidney disease, Hypertension, Hyposthenuria, Renal corticomedullary cys... |
OMIM:256100 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension |
ORPHA:79084 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Congestive heart failure, Primary amenorrhea, Secondary amenorrhea, Hypertension, O... |
ORPHA:79083 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Irregular menstruation, Cardiomyopathy |
OMIM:102200 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Riboflavin Transporter Deficiency |
|
Hypertension, Hypogonadism |
ORPHA:97229 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Proteinuria, Primary amenorrhea |
OMIM:191830 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Irregular menstruation |
OMIM:615238 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology |
OMIM:123550 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Portal hypertension, Unilateral renal agenesis, Multiple ... |
OMIM:216360 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Gastrointestinal hemorrhage, Renal insufficiency, Primary testicular failure, P... |
ORPHA:85450 |
Rhabdoid Tumor |
|
Hematuria, Hypertension, Internal hemorrhage |
ORPHA:69077 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Oligomenorrhea, Primary amenorrhea |
OMIM:604367 |
Glutaric Aciduria Iii |
|
Hypertension, Glutaric aciduria |
OMIM:231690 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Micropenis |
OMIM:613870 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Large vessel vasculitis, Hydrocele testi... |
ORPHA:49041 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... |
ORPHA:97362 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Bilateral renal hypo... |
ORPHA:2260 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:276621 |
Posterior Urethral Valve |
|
Renal insufficiency, Urinary incontinence, Dysuria, Urethral stenosis, Chronic kidney disease, St... |
ORPHA:93110 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Chronic kidney disease, Oligozoosper... |
ORPHA:330015 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Stiff Skin Syndrome |
|
Hypertension, Nephrolithiasis |
ORPHA:2833 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension, Umbilical hernia, Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro... |
OMIM:203780 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephritis |
OMIM:614034 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... |
OMIM:612925 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Renal cyst, Pyelonep... |
ORPHA:730 |
Liddle Syndrome 1 |
|
Hypertension, Renal insufficiency |
OMIM:177200 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612924 |
Fabry Disease |
|
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... |
OMIM:301500 |
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 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension |
OMIM:608600 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Ectopic kidney, Cryptorchidism, Abnormality of the ure... |
ORPHA:3027 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Proteinuria, Minimal change glomerulonephritis, Congestive heart failu... |
ORPHA:1830 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Azoospermia, Hyperte... |
OMIM:300845 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci... |
OMIM:104200 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria,... |
ORPHA:220393 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Tetanus |
|
Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens... |
ORPHA:3299 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:567546 |
Coach Syndrome 2 |
|
Hypertension |
OMIM:619111 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T... |
ORPHA:247691 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Transient ischemic attack, Proteinuria, Bilateral cryptorchidism, Stage 5 ch... |
OMIM:242900 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Renal cyst, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... |
ORPHA:231625 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte... |
OMIM:208000 |
Nephroblastoma |
|
Hematuria, Hypertension |
ORPHA:654 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Multiple renal cysts, Polycyst... |
OMIM:613095 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... |
ORPHA:369929 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension |
OMIM:615980 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension |
ORPHA:363400 |
Renal Dysplasia |
|
Multicystic kidney dysplasia, Abnormal renal calyx morphology, Renal insufficiency, Urinary incon... |
ORPHA:93108 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Cryptorchidism, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Umbilical her... |
OMIM:614052 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Alstrom Syndrome |
|
Renal insufficiency, Hypergonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyop... |
OMIM:203800 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff... |
ORPHA:91139 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:330021 |
Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... |
OMIM:120330 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:617021 |
Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Decreased fertility,... |
ORPHA:902 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Proteinuria,... |
ORPHA:183 |
Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr... |
ORPHA:91347 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... |
ORPHA:320 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Renal insufficiency, Proteinuria, Portal hypertension, Stage 5 chronic kidney disea... |
OMIM:619487 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... |
ORPHA:90793 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:29072 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Acute kidney injury, Proteinuria, Cerebral hemorrhage |
OMIM:618886 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Polyuria, Hypercalciuria |
OMIM:613677 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Alagille Syndrome |
|
Telangiectasia of the skin, Cryptorchidism, Abnormality of the ureter, Hypertension, Nephrotic sy... |
ORPHA:52 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Hypertension, Tubulointers... |
OMIM:617595 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar... |
ORPHA:251004 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis, Increased urinary potassium |
ORPHA:231580 |
Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Hypertension, Oligomenorrhea |
OMIM:219090 |
Multiple Endocrine Neoplasia, Type Iia |
|
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... |
OMIM:171400 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... |
ORPHA:90068 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... |
ORPHA:31826 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Hypertension, Secondary amenorrhea |
OMIM:610489 |
Hyperaldosteronism, Familial, Type I |
|
Hypertension |
OMIM:103900 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abnormality of reproductive system physiology, Hypertension, Pa... |
ORPHA:1501 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Hypertension |
OMIM:615954 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:615474 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Irregular menstruation, Testicular adrenal rest tumor, Intracrani... |
ORPHA:90795 |
Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
Porphyria Variegata |
|
Tachycardia, Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Hypertension, Increased u... |
ORPHA:79473 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension |
OMIM:617763 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia |
ORPHA:525731 |
Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613159 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Hypertension |
ORPHA:2169 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Irregular menstruation, Nephrolithiasis, Hypertension, Abnormal... |
ORPHA:189427 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension |
ORPHA:77296 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... |
OMIM:194080 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Umbilical hernia, Hypertension |
ORPHA:1555 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:43116 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Myocardial infarction |
OMIM:618620 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Hypertension, Impotence, Oligomenorrhea, Hypotension |
ORPHA:95613 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine |
OMIM:215600 |
Xfe Progeroid Syndrome |
|
Hypertension, Renal insufficiency, Premature ovarian insufficiency, Proteinuria |
OMIM:610965 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic... |
OMIM:617729 |
Alport Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro... |
ORPHA:63 |
Renal Agenesis |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, Hypertension |
ORPHA:411709 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... |
OMIM:301050 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Myocardial infarction |
OMIM:208060 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Hypertension, Impotence, Hypotension, Urinary bladder sphincter dysfunction |
ORPHA:93256 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Hypertension, Ischemic stroke, Umbilical hernia, Aortic valve stenosis, Tel... |
OMIM:208050 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Apparent Mineralocorticoid Excess |
|
Hypertension |
OMIM:218030 |
Sickle Cell Disease |
|
Hematuria, Hypertension, Renal insufficiency, Priapism |
OMIM:603903 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai... |
ORPHA:466677 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Hypertension, ... |
ORPHA:94093 |
Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232220 |
Wagro Syndrome |
|
Hypertension, Proteinuria, Decreased testicular size |
OMIM:612469 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Acute Intermittent Porphyria |
|
Dark urine, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Hyper... |
ORPHA:79276 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Oligozoospermia, Hypertension, Infertility, Oligomenorrhea |
ORPHA:786 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Renal insufficiency, Angina pectoris, Transient... |
ORPHA:324 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypocalciuria, Renal sodium wasting, Renal ... |
OMIM:612780 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence |
ORPHA:75567 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Spondyloenchondrodysplasia |
|
Proteinuria, Raynaud phenomenon, Chronic kidney disease, Vasculitis, Hematuria, Hypertension |
ORPHA:1855 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Senior-Boichis Syndrome |
|
Portal hypertension, Chronic kidney disease, Renal hypoplasia, Stage 5 chronic kidney disease, Hy... |
ORPHA:84081 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Ketonuria, Hypotension |
ORPHA:134 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Epistaxis |
ORPHA:231632 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Hypertension, Male hypogonadism |
ORPHA:90321 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery stenosis, Hydroneph... |
OMIM:617913 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension |
OMIM:615830 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Hypertension, Focal segmental glo... |
OMIM:232240 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury |
OMIM:235400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Epistaxis, Irregular menstruation, Stage 5 chronic kidney disease, Nephrolithiasis, ... |
ORPHA:79259 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension, Proteinuria |
ORPHA:79086 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Nephrocal... |
ORPHA:90041 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Renal insufficiency, Tachycardia |
ORPHA:1764 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension |
OMIM:219080 |
Prader-Willi Syndrome |
|
Cryptorchidism, Primary amenorrhea, Hypertension, Hypogonadism, Infertility, Decreased testicular... |
ORPHA:739 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension |
OMIM:610475 |
Alkaptonuria |
|
Myocardial infarction, Nephrolithiasis, Hypertension, Aminoaciduria, Prostatitis |
ORPHA:56 |
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 |
Overlap Myositis |
|
Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension |
ORPHA:206572 |
Acute Interstitial Pneumonia |
|
Hypertension |
ORPHA:79126 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypospadias, Hypertension, Mitral regurgitation, Umbilical hernia |
OMIM:611962 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Au-Kline Syndrome |
|
Cryptorchidism, Chronic kidney disease, Lipomyelomeningocele, Hypertension, Vesicoureteral reflux... |
OMIM:616580 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, O... |
ORPHA:48435 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Cryptorchidism, Epispadias, Hypertension, Hypogonadism |
ORPHA:2588 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul... |
ORPHA:892 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Cryptorchidism, Telangiectasia, Hypertension, Pulmonary arterial hypertension |
OMIM:234100 |
Seckel Syndrome 10 |
|
Hypertension, Congestive heart failure, Glycosuria |
OMIM:617253 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret... |
ORPHA:139417 |
Hurler Syndrome |
|
Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris |
ORPHA:93473 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, Micropenis, Hypogonadism, Decreased testicular size |
OMIM:209900 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension |
ORPHA:449291 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hypertension, Nephronophthisis,... |
OMIM:266920 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... |
ORPHA:91387 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Decreased fertility, Primary amenorrhea, ... |
ORPHA:95699 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Hypertension, Umbili... |
OMIM:602535 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Elevated urinary catecholamine level, Palpitations, Hypertension associated with phe... |
OMIM:115310 |
Cushing Disease |
|
Increased urinary cortisol level, Myocardial infarction, Secondary amenorrhea, Hypertension, Capi... |
ORPHA:96253 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hypospadias |
OMIM:123790 |
Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypergonadotropic hypogonadism, Hypertension, Oligomenorrhea, Low urinary ... |
ORPHA:79443 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Myocardial infarction |
OMIM:615812 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Hypertension, Ischemic stroke |
ORPHA:542643 |
Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Irregular menstruation, Micropenis, Hypertensio... |
OMIM:216400 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension |
ORPHA:98808 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Bartter Syndrome Type 4 |
|
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... |
ORPHA:89938 |
Neurofibromatosis, Type I |
|
Hypertension, Renal artery stenosis, Spina bifida |
OMIM:162200 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Long penis, Decreased testicular size |
OMIM:202010 |
Acromegaly |
|
Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Wide penis, Long penis, Hypertension, Impot... |
ORPHA:963 |
Somatomammotropinoma |
|
Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Hypertension, Impotence, Mitral regurgitati... |
ORPHA:314769 |
Hardikar Syndrome |
|
Renal insufficiency, Hydroureter, Portal hypertension, Hematemesis, Pyelonephritis, Hypertension,... |
OMIM:301068 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... |
ORPHA:447 |
Alexander Disease |
|
Hypotension, Hypertension, Sudden cardiac death |
ORPHA:58 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Orofaciodigital Syndrome I |
|
Hypertension, Myelomeningocele, Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Multiple renal cysts |
OMIM:193300 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Increased urinary cortisol level, Testicular neoplasm |
ORPHA:199244 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic val... |
ORPHA:363618 |
Scalp-Ear-Nipple Syndrome |
|
Duplication of renal pelvis, Hypertension, Ureteral duplication, Pyelonephritis |
ORPHA:2036 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp... |
OMIM:609049 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury |
ORPHA:90038 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval |
OMIM:614947 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... |
OMIM:181270 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension |
ORPHA:69663 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... |
ORPHA:217085 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... |
ORPHA:544482 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... |
ORPHA:217093 |
Williams Syndrome |
|
Hypoplasia of penis, Myocardial infarction, Nephrocalcinosis, Vesicoureteral reflux, Pelvic kidne... |
ORPHA:904 |
Xq21 Microdeletion Syndrome |
|
Hypertension, Renal artery stenosis |
ORPHA:1435 |
Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension |
OMIM:615688 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Portal hypertension, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal... |
OMIM:270400 |
Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Vasculitis, Hematochezia, Hypertension, Nephrotic syndrome, Hypertrophic cardiomyopathy |
OMIM:615846 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Micropenis, Hypertension, Arrhythmia |
OMIM:133540 |
Atypical Werner Syndrome |
|
Premature ovarian insufficiency, Telangiectasia of the skin, Congestive heart failure, Decreased ... |
ORPHA:79474 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Female hypogonadism, Angina pectoris, Myocardial infarctio... |
ORPHA:740 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertension, Hydronephrosis |
ORPHA:2750 |
Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Shortened QT interval, Nephrolithiasis, Hypercalciuria, Melena, Hypertension, Impote... |
ORPHA:652 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Nephrolithiasis, Hyp... |
ORPHA:653 |
Williams-Beuren Syndrome |
|
Renal insufficiency, Portal hypertension, Urethral stenosis, Renal hypoplasia, Hypercalciuria, Ne... |
OMIM:194050 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Renal cyst, Hyperten... |
ORPHA:805 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... |
ORPHA:99413 |
Turner Syndrome |
|
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... |
ORPHA:881 |
Mosaic Monosomy X |
|
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... |
ORPHA:99226 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypospadias, Spina bifida, Cryptorchidism, Meningocele, Renal hypopl... |
ORPHA:567 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... |
ORPHA:391665 |
Yunis-Varon Syndrome |
|
Hypospadias, Cryptorchidism, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal arter... |
ORPHA:3472 |
Mucopolysaccharidosis Type 2 |
|
Cardiomyopathy, Arrhythmia, Umbilical hernia, Hypertension |
ORPHA:580 |
Cranioectodermal Dysplasia 2 |
|
Hypertension, Renal insufficiency, Renal cyst |
OMIM:613610 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aortic valve ste... |
OMIM:100300 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Myhre Syndrome |
|
Cryptorchidism, Aortic valve stenosis, Hypertension |
OMIM:139210 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... |
OMIM:619573 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Micropenis |
OMIM:210710 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hypertensio... |
OMIM:308205 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertension |
OMIM:151660 |
Blau Syndrome |
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Hypertension, Pericarditis |
OMIM:186580 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Myocardial infarction, Secondary amenorrhea, Hypertension, Capi... |
ORPHA:99889 |
Blau Syndrome |
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Pericarditis, Stage 5 chronic kidney disease, Large vessel vasculitis, Hypertension, Pulmonary ar... |
ORPHA:90340 |
17Q11 Microdeletion Syndrome |
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Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo... |
ORPHA:97685 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hypospadias, Cryptorchidism, Vesicovaginal fistula, Primary amenorrhea, Horseshoe kidney, Hyperte... |
OMIM:201750 |
Congenital Disorder Of Glycosylation, Type Iim |
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Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula |
OMIM:300896 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ketonuria, Hypospadias, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
OMIM:220111 |
Generalized Arterial Calcification Of Infancy |
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Hyperphosphaturia, Transient ischemic attack, Retinal hemorrhage, Nephrocalcinosis, Hypertension,... |
ORPHA:51608 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension, Polyuria |
OMIM:606721 |
Carney Complex |
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Sertoli cell neoplasm, Testicular neoplasm, Congestive heart failure, Testicular adrenal rest tum... |
ORPHA:1359 |
Neurofibromatosis Type 1 |
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Cryptorchidism, Hypertension |
ORPHA:636 |
Vascular Ehlers-Danlos Syndrome |
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Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cryptorchidism, Cystocele, Re... |
ORPHA:286 |
Alström Syndrome |
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Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr... |
ORPHA:64 |
Keutel Syndrome |
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Hypertension, Pulmonic stenosis |
OMIM:245150 |
Preeclampsia/Eclampsia 4 |
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OMIM:609404 |