Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension |
OMIM:608320 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
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 |
|
Nephrotic syndrome, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage ... |
OMIM:601894 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism |
OMIM:618681 |
Nail-Patella-Like Renal Disease |
|
Hypertension, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic... |
OMIM:161900 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hema... |
OMIM:137950 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, Proteinuria, Hypertension, Stage 5 chronic kidney disease |
OMIM:613944 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension, Hematuria, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616818 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Hypertension, Premature... |
ORPHA:3156 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypertension, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Myocardial infarction, Azoospermia, Hypertension, Congestive heart fai... |
OMIM:615703 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Hypertension, Transient ischemic attack, Lacunar stroke |
OMIM:616779 |
Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia |
OMIM:602079 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Acute kidney injury, Renal ins... |
ORPHA:54370 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Nephrocalcinosis, Hypertension, Congestive heart failure |
OMIM:614473 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, Proteinuria, Hypertension, Stage 5 chronic kidney disease |
OMIM:161950 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Hypertension, Impotence, Ischemic stroke, Raynaud phenomenon |
OMIM:615750 |
Glucocorticoid Resistance, Generalized |
|
Infertility, Irregular menstruation, Hypertension |
OMIM:615962 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Myocardial infarction, Sudden cardiac death, Hypertension |
OMIM:610947 |
Paragangliomas 6 |
|
Hypertension |
OMIM:618464 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis, Hy... |
ORPHA:567544 |
Liddle Syndrome |
|
Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension |
ORPHA:526 |
Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Renal insufficiency, Proteinuria, Hypertension, Hypertrophic cardiomyopathy, Congesti... |
ORPHA:225 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Frasier Syndrome |
|
Nephrotic syndrome, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Focal segme... |
ORPHA:347 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Renal insufficiency, Proteinuria, Hypertension, Microsco... |
ORPHA:84090 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:1345 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Preeclampsia |
|
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Proteinuria, Hyper... |
ORPHA:275555 |
Coproporphyria, Hereditary |
|
Hypertension, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tach... |
OMIM:121300 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria, Hypertension |
OMIM:105200 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Hypertension |
ORPHA:280356 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, ... |
ORPHA:329918 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Oligomenorrhea |
OMIM:613877 |
Denys-Drash Syndrome |
|
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:220 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... |
OMIM:540000 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Arrhythmia, Renal insufficiency |
ORPHA:3222 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:605711 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis |
ORPHA:52022 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Left bundle branch block, Sinus bradycardia, Abnormal renal medulla morph... |
ORPHA:439232 |
Familial Cervical Artery Dissection |
|
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebral ischemia, Hypertension, Transien... |
ORPHA:36382 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Oliguria, Urinary hesita... |
ORPHA:976 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Nephropathy |
ORPHA:820 |
Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Ochoa Syndrome |
|
Renal insufficiency, Hydronephrosis, Urethral obstruction, Hypertension, Vesicoureteral reflux, U... |
ORPHA:2704 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:1192 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral regurgitation, Polycystic kidney dysplasia, Renal insufficiency, Hypertension |
OMIM:173900 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... |
OMIM:618061 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Arrhythmia |
OMIM:617021 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Primary amenorrhea |
OMIM:202110 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypertension, Renal salt wasting |
OMIM:201910 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Azoospermia, Ischemi... |
ORPHA:280679 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Hypertension |
OMIM:616733 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Abnormality of the ureter, Renal insufficiency... |
ORPHA:93101 |
Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Pulmonic stenosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insuffi... |
OMIM:610205 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Hypertension, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Grange Syndrome |
|
Hypertension, Aortic regurgitation |
ORPHA:79094 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Cerebral ischemia, Vasculitis, Myocardial infarction, Hypertensive c... |
ORPHA:3287 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Decreased glomerular filtration rate, Impaired renal uric acid clearance, Hypotension, Tubulointe... |
OMIM:174000 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension |
ORPHA:71529 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:618913 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Protein... |
OMIM:171420 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Irregular menstruation, Cardiomyopathy |
OMIM:102200 |
Nephronophthisis 1 |
|
Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Hypertension, Renal corti... |
OMIM:256100 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension |
ORPHA:79084 |
Joubert Syndrome 14 |
|
Renal cyst, Encephalocele, Hypertension |
OMIM:614424 |
Riboflavin Transporter Deficiency |
|
Hypertension, Hypogonadism |
ORPHA:97229 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Intracranial hemorrhage, Stress urinary incontinence, Cerebral ischemia, Lac... |
ORPHA:136 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Arrhythmia, Hypotension, Abnormality of reproductive system physiology, Umbilica... |
ORPHA:442 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Hypertension, Hypertrophi... |
ORPHA:79083 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613355 |
Glutaric Aciduria Iii |
|
Hypertension, Glutaric aciduria |
OMIM:231690 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Irregular menstruation |
OMIM:615238 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, H... |
ORPHA:110 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Unilateral renal agenesis, Hypertension, Pulmonary arterial hypertension |
OMIM:608406 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Primary amenorrhea, Proteinuria |
OMIM:191830 |
Rhabdoid Tumor |
|
Hypertension, Hematuria, Internal hemorrhage |
ORPHA:69077 |
Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, Po... |
OMIM:216360 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria, Hypertension |
OMIM:123550 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... |
OMIM:263200 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... |
OMIM:264800 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Micropenis |
OMIM:613870 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Epis... |
OMIM:171300 |
Lipodystrophy, Familial Partial, Type 3 |
|
Oligomenorrhea, Primary amenorrhea, Hypertension |
OMIM:604367 |
Oligomeganephronia |
|
Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral renal hypoplasia, Prot... |
ORPHA:2260 |
Caudal Regression Syndrome |
|
Abnormality of the ureter, Ureteral duplication, Arrhinencephaly, Renal insufficiency, Ectopic ki... |
ORPHA:3027 |
Lead Poisoning |
|
Renal tubular dysfunction, Infertility, Chronic kidney disease, Decreased male libido, Reduced sp... |
ORPHA:330015 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Decreased glomerular filtration rate, Hypertension, Oligospermia, Nocturia, N... |
ORPHA:85450 |
Posterior Urethral Valve |
|
Dysuria, Chronic kidney disease, Urinary retention, Urethral stenosis, Renal insufficiency, Hydro... |
ORPHA:93110 |
Fabry Disease |
|
Angina pectoris, Arrhythmia, Myocardial infarction, Renal insufficiency, Proteinuria, Lipiduria, ... |
OMIM:301500 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Hypertension |
OMIM:133100 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Stiff Skin Syndrome |
|
Nephrolithiasis, Hypertension |
ORPHA:2833 |
Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Hypercalciuria, Prolonged QT interval, Hypertension, Epistaxis |
ORPHA:251274 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Impotence, Budd-Chiari syndrome, Hematuria, Membranous nephropathy, ... |
ORPHA:49041 |
Heme Oxygenase 1 Deficiency |
|
Nephritis, Hematuria, Proteinuria, Hypertension, Diffuse alveolar hemorrhage, Epistaxis |
OMIM:614034 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Stage 5 chronic kidney disease... |
OMIM:612925 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Renal insufficiency, Proteinuria, Hypertension, Stage 5... |
OMIM:203780 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:276621 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612926 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M... |
ORPHA:90065 |
Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon |
ORPHA:767 |
Primary Lipodystrophy |
|
Angina pectoris, Menometrorrhagia, Hypertension, Cardiomyopathy, Congestive heart failure |
ORPHA:90970 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612922 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension |
OMIM:608600 |
Systemic Lupus Erythematosus 17 |
|
Mitral regurgitation, Raynaud phenomenon, Hypertensive crisis |
OMIM:301080 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephropathy, Focal segmental glomerulosclerosis,... |
OMIM:194080 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension, Renal hypoplasia, Umbilical hernia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis, H... |
OMIM:104200 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Schimke Immuno-Osseous Dysplasia |
|
Congestive heart failure, Nephrotic range proteinuria, Nephropathy, Cerebral ischemia, Focal segm... |
ORPHA:1830 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Intracranial hemorrhage, Second degree atrioventricular block, Hypertension, Pul... |
ORPHA:369929 |
Tetanus |
|
Tachycardia, Hypertension, Elevated urinary epinephrine, Elevated urinary norepinephrine, Bradyca... |
ORPHA:3299 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Coach Syndrome 2 |
|
Hypertension |
OMIM:619111 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Dyspareunia, Oliguria, Renal insufficiency, Hypertensive crisis, Pulm... |
ORPHA:220393 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Raynaud phenomenon, Hypertension, Nephropathy, Retinal neovascularization, Proteinuria, Gastroint... |
ORPHA:247691 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension |
OMIM:615980 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension |
ORPHA:363400 |
Familial Cerebral Saccular Aneurysm |
|
Hypertension, Intracranial hemorrhage, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Nephroblastoma |
|
Hypertension, Hematuria |
ORPHA:654 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Nephritis, Raynaud phenomenon, Membranoproliferative glomerulonephritis, Vasc... |
ORPHA:91139 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Renal artery stenosis, Myocardial infarction, Dilated cardiomyopathy, Hypertension, Congestive he... |
OMIM:208000 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613623 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Increased urinary potassium, Palpitations, Intracranial hemorrhage, Hypertension... |
ORPHA:231625 |
Renal Dysplasia |
|
Chronic kidney disease, Vesicovaginal fistula, Moderate proteinuria, Ureterocele, Ureteral atresi... |
ORPHA:93108 |
Liddle Syndrome 1 |
|
Hypertension, Renal insufficiency |
OMIM:177200 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Infertility, Impotence, Decreased fertility in males, Hypogonadotrop... |
ORPHA:91347 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Cerebral ischemia, Focal segmental glomerulosclerosis, Proteinuria, Renal ins... |
OMIM:242900 |
Familial Hyperaldosteronism Type Ii |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:404 |
Alstrom Syndrome |
|
Nephritis, Hypergonadotropic hypogonadism, Irregular menstruation, Tubulointerstitial nephritis, ... |
OMIM:203800 |
Aicardi-Goutieres Syndrome 9 |
|
Micropenis, Renal insufficiency, Proteinuria, Portal hypertension, Increased blood pressure, Hype... |
OMIM:619487 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Hematuria, Myocarditis, Vasculitis, Myocardial infarction, T... |
ORPHA:183 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Multiple renal cysts, Polycystic kidney dysplasia, Renal insufficiency, Hypertension, Stage 5 chr... |
OMIM:613095 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:330021 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:403 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Pulmonary embolism, Portal hype... |
ORPHA:729 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Hypertension, Proteinuria, Cerebral hemorrhage |
OMIM:618886 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Proteinuria, Hy... |
ORPHA:251004 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Hypertension, Telangiectasia, Pulmonar... |
OMIM:178600 |
Porphyria |
|
Abnormal urinary color, Hypertension |
ORPHA:738 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Tachycardia, Hematuria, Hypotension, Atrial fibrillation, Shock, Renal... |
ORPHA:31826 |
Porphyria, Acute Intermittent |
|
Dysuria, Tachycardia, Elevated urinary delta-aminolevulinic acid, Urinary retention, Hypertension... |
OMIM:176000 |
Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Aortic valve stenosis, Aortic regurgitation, Umbilical hernia, Hype... |
OMIM:208050 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Arrhythmia, 3-Methylglutaconic aciduria, Umbilical hernia, Hypertension, Hypertrophi... |
OMIM:614052 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Increased urinary cortisol level, Secondary amenorrhea |
OMIM:610489 |
Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Secondary amenorrhea, Hypogonadism, Hypertensi... |
ORPHA:902 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Increased urinary cortisol level |
OMIM:615954 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Macroscopic hematuria, Pulmonary embolism, Focal segmental glomeruloscler... |
ORPHA:567546 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency |
ORPHA:320 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:29072 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Heart murmur, Hyp... |
ORPHA:437572 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Polyuria, Hypercalciuria |
OMIM:613677 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Pal... |
ORPHA:340 |
Multiple Endocrine Neoplasia, Type Iia |
|
Elevated urinary vanillylmandelic acid, Elevated urinary dopamine, Palpitations, Hypertension, El... |
OMIM:171400 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Micropenis, Hypospadias, Primary amenorrhea, Irregular menstruation, Increased urinary 11-deoxyco... |
ORPHA:90793 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis, Increased urinary potassium |
ORPHA:231580 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
Neuroblastoma, Susceptibility To, 1 |
|
Abnormality of urine catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinar... |
OMIM:256700 |
Buschke-Ollendorff Syndrome |
|
Hypertension, Renal insufficiency |
ORPHA:1306 |
Adrenocortical Carcinoma |
|
Palpitations, Abnormality of reproductive system physiology, Abnormality of urine homeostasis, In... |
ORPHA:1501 |
Hyperaldosteronism, Familial, Type I |
|
Hypertension |
OMIM:103900 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypertension, Pulmonary arterial hypertension |
OMIM:615474 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis |
OMIM:223900 |
Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Hypertension, Oligomenorrhea |
OMIM:219090 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Tubulointerstitial nephritis, Renal hypoplasia, Renal insufficien... |
OMIM:617595 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Restrictive cardiomyopathy, Sudden cardiac death, Re... |
ORPHA:758 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Irregular menstruation, Abnormal libido, Hypertension, Increased urinary cortiso... |
ORPHA:189427 |
Alagille Syndrome |
|
Telangiectasia of the skin, Nephrotic syndrome, Abnormality of the ureter, Spina bifida occulta, ... |
ORPHA:52 |
Atrioventricular Septal Defect 3 |
|
Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arterial hyperte... |
OMIM:600309 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Palpitations, Hypertension, Atrial fibrillation, Congestive heart failure |
ORPHA:525731 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypertension, Stage 5 chronic kidne... |
OMIM:617729 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine |
OMIM:215600 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Hypertension, Arteritis |
ORPHA:494424 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:43116 |
Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations |
OMIM:605373 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Mitral regurgitation, Hypertension, Pulmonary arterial hypertension, Epist... |
OMIM:230800 |
Pituitary Apoplexy |
|
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea, Hypotension, Hypertension |
ORPHA:95613 |
Porphyria Variegata |
|
Chronic kidney disease, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic ... |
ORPHA:79473 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension |
ORPHA:77296 |
Sickle Cell Anemia |
|
Renal insufficiency, Hypertension, Priapism, Hematuria |
OMIM:603903 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension, Hemolytic-uremic syndrome |
ORPHA:2169 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... |
OMIM:232200 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Nephrolithiasis, Irregular menstruation, Abnormal libido, Hypertension, Increased urinary cortiso... |
ORPHA:189439 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Irregular menstruation, Increased urinary 11-deoxycorticosterone level, ... |
ORPHA:90795 |
Alport Syndrome |
|
Nephrotic syndrome, Nephritis, Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulos... |
ORPHA:63 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension, Renal corticomedullary cysts, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613159 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Hypertension, Proteinuria, Premature ovarian insufficiency |
OMIM:610965 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Chronic kidney disease, Hypertension |
OMIM:208060 |
Scorpion Envenomation |
|
Bundle branch block, Ketonuria, Priapism, Premature ventricular contraction, ST segment depressio... |
ORPHA:466677 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Urinary bladder sphincter dysfunction, Impotence, Hypotension, Hypertension, Pollakisuria |
ORPHA:93256 |
Renal Agenesis |
|
Unilateral renal agenesis, Ureteral agenesis, Proteinuria, Renal insufficiency, Hypertension |
ORPHA:411709 |
Alport Syndrome 1, X-Linked |
|
Nephrotic syndrome, Nephritis, Proteinuria, Renal insufficiency, Hypertension, Microscopic hematu... |
OMIM:301050 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Myocardial infarction, Hypertension |
OMIM:618620 |
Paragangliomas 1 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:168000 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Oligomenorrhea, Oligospermia, Hypertension, Increased urinary cortisol level |
ORPHA:786 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... |
OMIM:232220 |
Acute Intermittent Porphyria |
|
Dark urine, Dysuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic aci... |
ORPHA:79276 |
Glycogen Storage Disease Ic |
|
Decreased glomerular filtration rate, Hematuria, Spider hemangioma, Focal segmental glomeruloscle... |
OMIM:232240 |
Neuroleptic Malignant Syndrome |
|
Myoglobinuria, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Acute kidney injury, Pro... |
ORPHA:94093 |
Apparent Mineralocorticoid Excess |
|
Hypertension |
OMIM:218030 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Umbilical hernia |
ORPHA:1555 |
Aortic Arch Interruption |
|
Intermittent claudication, Blood pressure substantially higher in arms than legs, Tricuspid regur... |
ORPHA:2299 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Reduced renal corticomedullary differentiation, Renal hypoplasia, Portal ... |
ORPHA:84081 |
Spondyloenchondrodysplasia |
|
Chronic kidney disease, Raynaud phenomenon, Hematuria, Vasculitis, Proteinuria, Hypertension |
ORPHA:1855 |
Granulomatosis With Polyangiitis |
|
Angina pectoris, Prostatitis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Ureteral stenosis,... |
ORPHA:900 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Nephrotic syndrome, Mucosal tel... |
ORPHA:324 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension |
OMIM:615812 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension |
OMIM:615830 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence |
ORPHA:75567 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Epistaxis |
ORPHA:231632 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Popov-Chang syndrome |
|
Pulmonic stenosis, Hypertension |
OMIM:618428 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Ketonuria, Hypotension |
ORPHA:134 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hypertension, Acute kidney injury, Hemolytic-uremic syndrome |
OMIM:235400 |
Acquired Generalized Lipodystrophy |
|
Abnormal cardiovascular system physiology, Cardiomyopathy, Proteinuria, Hypertension |
ORPHA:79086 |
Alkaptonuria |
|
Nephrolithiasis, Prostatitis, Aminoaciduria, Myocardial infarction, Hypertension |
ORPHA:56 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Pulmonary venous hypertension, Epistaxis, Irregular menstruation, Menorrhagia, T... |
ORPHA:79259 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Hypertension, Proteinuria, Male hypogonadism |
ORPHA:90321 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Hematuria, Myocarditis, Proteinuria, Bun... |
ORPHA:99827 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Hypertension, Proteinuria |
OMIM:612469 |
Postinfectious Vasculitis |
|
Orchitis, Vasculitis in the skin, Raynaud phenomenon, Cerebral vasculitis, Membranoproliferative ... |
ORPHA:48435 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension |
OMIM:219080 |
Hunter-Macdonald Syndrome |
|
Mitral regurgitation, Hypospadias, Aortic regurgitation, Umbilical hernia, Hypertension |
OMIM:611962 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension |
OMIM:610475 |
Gaisböck Syndrome |
|
Angina pectoris, Hypovolemia, Hypernatriuria, Myocardial infarction, Hypertension, Nephrocalcinos... |
ORPHA:90041 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Renal insufficiency, Hypertension |
ORPHA:1764 |
Overlap Myositis |
|
Hypertension, Pulmonary arterial hypertension, Raynaud phenomenon |
ORPHA:206572 |
Acute Interstitial Pneumonia |
|
Hypertension |
ORPHA:79126 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Hypertens... |
ORPHA:3342 |
Prader-Willi Syndrome |
|
Infertility, Primary amenorrhea, Hypertension, Hypogonadism |
ORPHA:739 |
Acute Transverse Myelitis |
|
Urinary bladder sphincter dysfunction, Priapism, Orthostatic hypotension, Subarachnoid hemorrhage... |
ORPHA:139417 |
Von Hippel-Lindau Disease |
|
Abnormal left ventricular function, Elevated urinary catecholamines, Palpitations, Arrhythmia, Mu... |
ORPHA:892 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Poliomyelitis |
|
Hypertension, Hypotension, Hypovolemic shock |
ORPHA:2912 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Hypogonadism, Hypertension, Epispadias |
ORPHA:2588 |
Hurler Syndrome |
|
Angina pectoris, Hypertension, Cardiomyopathy, Mucopolysacchariduria |
ORPHA:93473 |
Carey-Fineman-Ziter Syndrome |
|
Glandular hypospadias, Hydronephrosis, Hypertensive crisis |
ORPHA:1358 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension |
ORPHA:449291 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, Aortic regurgitation, H... |
ORPHA:91387 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Reduced renal corticomedullary differentiation, Ureteral duplication, Renal cys... |
OMIM:266920 |
Acromegaly |
|
Dysuria, Impotence, Dysmenorrhea, Hypogonadotropic hypogonadism, Mitral regurgitation, Long penis... |
ORPHA:963 |
Somatomammotropinoma |
|
Dysuria, Amenorrhea, Impotence, Dysmenorrhea, Hypogonadotropic hypogonadism, Mitral regurgitation... |
ORPHA:314769 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Ischemic stroke, Hypertension |
ORPHA:542643 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, Hypogonadism, Micropenis |
OMIM:209900 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Cushing Disease |
|
Amenorrhea, Oligomenorrhea, Myocardial infarction, Secondary amenorrhea, Abnormal libido, Hyperte... |
ORPHA:96253 |
Hallermann-Streiff Syndrome |
|
Pulmonary arterial hypertension, Telangiectasia, Spina bifida, Hypertension |
OMIM:234100 |
Seckel Syndrome 10 |
|
Hypertension, Glycosuria, Congestive heart failure |
OMIM:617253 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hypertension, Tachycardia, Retinal hemorrhage, Bradycardia |
OMIM:614653 |
Scalp-Ear-Nipple Syndrome |
|
Pyelonephritis, Renal hypoplasia, Renal insufficiency, Hypertension |
OMIM:181270 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... |
OMIM:600376 |
Cockayne Syndrome A |
|
Micropenis, Irregular menstruation, Arrhythmia, Renal insufficiency, Proteinuria, Hypogonadism, H... |
OMIM:216400 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Oligomenorrhea, Hypertension, Prolonged QT interval, Low urinary ... |
ORPHA:79443 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Impotence, Budd-Chiari syndrome, Hemoglobinuria, Glycosuria, Pulmonary em... |
ORPHA:447 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension |
ORPHA:139411 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension |
ORPHA:98808 |
Hardikar Syndrome |
|
Hematemesis, Hydroureter, Bladder exstrophy, Renal insufficiency, Umbilical hernia, Hydronephrosi... |
OMIM:301068 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Micropenis, Unilateral renal agenesis, Hypospadias, Oligospermia, Primary amenorrhea, Hypertensio... |
ORPHA:95699 |
Paragangliomas 4 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, Elevated urinary catech... |
OMIM:115310 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Hypertension, Congestive he... |
ORPHA:363618 |
Nestor-Guillermo Progeria Syndrome |
|
Mitral regurgitation, Right bundle branch block, Hypertension, Sinus tachycardia, Pulmonary arter... |
OMIM:614008 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Hypertension, Polycystic kidney dysplasia, Proteinuria |
OMIM:311200 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Neurofibromatosis, Type I |
|
Hypertension, Spina bifida, Renal artery stenosis |
OMIM:162200 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Multiple renal cysts |
OMIM:193300 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension |
ORPHA:69663 |
Scalp-Ear-Nipple Syndrome |
|
Pyelonephritis, Ureteral duplication, Duplication of renal pelvis, Hypertension |
ORPHA:2036 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Myocardial infarction, Acute kidney injury, Hypertension, Anuria |
ORPHA:90038 |
Alexander Disease |
|
Hypertension, Sudden cardiac death, Hypotension |
ORPHA:58 |
Classic Homocystinuria |
|
Intracranial hemorrhage, Pulmonary embolism, Cerebral ischemia, Gastrointestinal hemorrhage, Hype... |
ORPHA:394 |
Pierson Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Retinal hemorrhage, Proteinuria, Hypertension, S... |
OMIM:609049 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Abnormal left ventricular function, Mitral regurgitation, Sudden cardiac death, ... |
ORPHA:391665 |
Aorta Coarctation |
|
Hypertension, Pulmonary arterial hypertension, Congestive heart failure |
ORPHA:1457 |
Marshall-Smith Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Premature ventricular contraction, Umbilical hernia |
OMIM:602535 |
Xq21 Microdeletion Syndrome |
|
Hypertension, Renal artery stenosis |
ORPHA:1435 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Dermatan sulfate excretion in urine, Arrhythmia, Heparan sulfate excretion in urine, Heart murmur... |
ORPHA:217085 |
Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Myocarditis, Oliguria, Acute kidney injury, Hypertensive crisis, Dec... |
ORPHA:544482 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Dermatan sulfate excretion in urine, Arrhythmia, Heparan sulfate excretion in urine, Heart murmur... |
ORPHA:217093 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Portal hypertension, Hypertension |
OMIM:615688 |
Williams Syndrome |
|
Sudden cardiac death, Myocardial infarction, Proteinuria, Umbilical hernia, Nephrolithiasis, Blad... |
ORPHA:904 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Enlarged kidney, Oliguria, Polycystic kidney dysp... |
ORPHA:731 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Aicardi-Goutieres Syndrome 7 |
|
Nephrotic syndrome, Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy |
OMIM:615846 |
Multiple Endocrine Neoplasia Type 2 |
|
Nephrolithiasis, Hypertension associated with pheochromocytoma, Elevated urinary vanillylmandelic... |
ORPHA:653 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Mitral stenosis, Transient ischemic attack, Aortic valve stenosis, Raynaud pheno... |
ORPHA:740 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Congestive heart failure, Aortic valve stenosis, Glycosuria, Secondar... |
ORPHA:79474 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Long penis |
OMIM:202010 |
Multiple Endocrine Neoplasia Type 1 |
|
Nephrolithiasis, Amenorrhea, Melena, Impotence, Decreased male libido, Hematemesis, Hypercalciuri... |
ORPHA:652 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Hypertension, Granulomatous coronary arteritis |
OMIM:108050 |
Cockayne Syndrome B |
|
Micropenis, Arrhythmia, Renal insufficiency, Proteinuria, Hypertension |
OMIM:133540 |
Nelson Syndrome |
|
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage |
ORPHA:199244 |
Smith-Lemli-Opitz Syndrome |
|
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Ureteropelvic junction obstructio... |
OMIM:270400 |
Tuberous Sclerosis Complex |
|
Chronic kidney disease, Renal angiomyolipoma, Renal cyst, Polycystic kidney dysplasia, Renal insu... |
ORPHA:805 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocardial infarction, S... |
ORPHA:99413 |
Turner Syndrome |
|
Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocardial infarction, S... |
ORPHA:881 |
Mosaic Monosomy X |
|
Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocardial infarction, S... |
ORPHA:99228 |
Monosomy X |
|
Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocardial infarction, S... |
ORPHA:99226 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Hypertension |
ORPHA:2750 |
Familial Bicuspid Aortic Valve |
|
Hypertension, Aortic regurgitation, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Cockayne Syndrome |
|
Nephrotic syndrome, Abnormal renal physiology, Unilateral renal agenesis, Retinal hemorrhage, Ren... |
ORPHA:191 |
Williams-Beuren Syndrome |
|
Bladder diverticulum, Supravalvular aortic stenosis, Micropenis, Pulmonic stenosis, Mitral regurg... |
OMIM:194050 |
Mucopolysaccharidosis Type 2 |
|
Hypertension, Arrhythmia, Cardiomyopathy, Umbilical hernia |
ORPHA:580 |
Yunis-Varon Syndrome |
|
Micropenis, Hypospadias, Arrhinencephaly, Renovascular hypertension, Hypertension, Pulmonary arte... |
ORPHA:3472 |
22Q11.2 Deletion Syndrome |
|
Corneal neovascularization, Hypospadias, Arrhinencephaly, Multiple renal cysts, Hypertensive cris... |
ORPHA:567 |
Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Pulmonic stenosis, Hypertension, Encephalocele, Pulmonary arterial hyperte... |
OMIM:100300 |
Cranioectodermal Dysplasia 2 |
|
Hypertension, Renal cyst, Renal insufficiency |
OMIM:613610 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension |
OMIM:151660 |
Immunodeficiency 87 And Autoimmunity |
|
Third degree atrioventricular block, Hypertension, Dilated cardiomyopathy, Pulmonary arterial hyp... |
OMIM:619573 |
Myhre Syndrome |
|
Hypertension, Aortic valve stenosis |
OMIM:139210 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Amenorrhea, Oligomenorrhea, Myocardial infarction, Secondary amenorrhea, Abnormal libido, Hyperte... |
ORPHA:99889 |
Congenital Disorder Of Glycosylation, Type Iim |
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Hypertension, Ureteropelvic junction obstruction, Vesicovaginal fistula |
OMIM:300896 |
17Q11 Microdeletion Syndrome |
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Telangiectasia of the skin, Hypertrophic cardiomyopathy, Pulmonic stenosis, Renovascular hyperten... |
ORPHA:97685 |
Blau Syndrome |
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Nephropathy, Large vessel vasculitis, Hypertension, Pericarditis, Pulmonary arterial hypertension... |
ORPHA:90340 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Polyuria, Pulmonary arterial hypertension, Hypertension |
OMIM:606721 |
Generalized Arterial Calcification Of Infancy |
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Medullary nephrocalcinosis, Transient ischemic attack, Weak pulse, Retinal hemorrhage, Left ventr... |
ORPHA:51608 |
Vascular Ehlers-Danlos Syndrome |
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Bladder diverticulum, Telangiectasia of the skin, Cystocele, Hypospadias, Renovascular hypertensi... |
ORPHA:286 |
Carney Complex |
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Decreased fertility in males, Oligospermia, Hypertension, Abnormal sperm motility, Congestive hea... |
ORPHA:1359 |
Neurofibromatosis Type 1 |
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Hypertension |
ORPHA:636 |
Keutel Syndrome |
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Pulmonic stenosis, Hypertension |
OMIM:245150 |
Alström Syndrome |
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Decreased fertility in males, Hypergonadotropic hypogonadism, Urinary retention, Stage 5 chronic ... |
ORPHA:64 |
Preeclampsia/Eclampsia 4 |
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OMIM:609404 |