Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... |
OMIM:603965 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis |
OMIM:607832 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... |
OMIM:617610 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... |
ORPHA:84090 |
Denys-Drash Syndrome |
|
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma |
ORPHA:220 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria |
OMIM:268700 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Trimethylaminuria |
OMIM:602079 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
ORPHA:42062 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... |
ORPHA:976 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Threoninemia |
|
Hyperthreoninuria |
OMIM:273770 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Carnosinuria, Cardiomyopathy |
OMIM:309930 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Re... |
OMIM:603278 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer... |
OMIM:615862 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... |
ORPHA:93101 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... |
ORPHA:225 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction |
OMIM:608320 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy |
ORPHA:3222 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... |
OMIM:618913 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine |
OMIM:237400 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Renal insufficiency, Polycystic kidney dysplasia |
OMIM:173900 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
Liddle Syndrome 1 |
|
Hypertension, Renal insufficiency |
OMIM:177200 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Hypospadias, Renal salt wasting |
OMIM:201910 |
Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... |
OMIM:610205 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Glutaric Aciduria Iii |
|
Hypertension, Glutaric aciduria |
OMIM:231690 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Focal segmental glomerulosclerosi... |
ORPHA:347 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Nephropathy |
ORPHA:820 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Myocardial infarction |
OMIM:610947 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Valinemia |
|
Valinuria |
OMIM:277100 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria |
OMIM:236250 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper... |
OMIM:614473 |
Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... |
OMIM:166300 |
Gracile Syndrome |
|
Aminoaciduria |
OMIM:603358 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria |
OMIM:230350 |
Nephroblastoma |
|
Hematuria, Hypertension, Nephroblastoma |
ORPHA:654 |
Hyperaldosteronism, Familial, Type I |
|
Hypertension, Abnormality of the urinary system |
OMIM:103900 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Hyperlysinemia, Type I |
|
Hyperlysinuria |
OMIM:238700 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinuria |
OMIM:238750 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria |
OMIM:615158 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor... |
OMIM:613159 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypertrophic cardiomyopathy, Aminoaciduria, Lacticaciduria |
OMIM:619386 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... |
ORPHA:94080 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Hypertension, Elevated circulating creatinine concentration, Abnormal renal cort... |
OMIM:616733 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria |
OMIM:234500 |
Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis, Nephroblastoma |
ORPHA:52022 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Myocardial infarction |
OMIM:615703 |
Argininemia |
|
Diaminoaciduria |
ORPHA:90 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Polyuria, Hypercalciuria |
OMIM:613677 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... |
ORPHA:411709 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatinine concentr... |
OMIM:613095 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Sarcosinemia |
|
Hypersarcosinuria, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... |
ORPHA:97362 |
Lipoyltransferase 1 Deficiency |
|
Lacticaciduria, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyperglutaminuria |
OMIM:616299 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... |
OMIM:618384 |
Multiple Endocrine Neoplasia, Type Iia |
|
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... |
OMIM:171400 |
Coach Syndrome 2 |
|
Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Rhabdoid Tumor |
|
Hematuria, Hypertension, Internal hemorrhage, Renal neoplasm |
ORPHA:69077 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephritis |
OMIM:614034 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Cardiomyopathy, Hypertension |
ORPHA:767 |
Fabry Disease |
|
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... |
OMIM:301500 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... |
ORPHA:320 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Cystinuria |
ORPHA:3124 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Acute kidney injury, Proteinuria, Cerebral hemorrhage |
OMIM:618886 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria |
ORPHA:664 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Congestive heart failure, Renal in... |
ORPHA:85450 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Hypertryptophanemia |
|
Tryptophanuria |
OMIM:600627 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension |
ORPHA:71529 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level |
OMIM:605850 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
Stiff Skin Syndrome |
|
Hypertension, Nephrolithiasis |
ORPHA:2833 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... |
ORPHA:213 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:276621 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... |
ORPHA:36382 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage |
OMIM:603585 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... |
ORPHA:231625 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Myocardial infarction |
OMIM:208060 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:567546 |
Tryptophanuria With Dwarfism |
|
Conjunctival telangiectasia, Tryptophanuria |
OMIM:276100 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh... |
ORPHA:136 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Hypertension |
OMIM:615954 |
Tetanus |
|
Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens... |
ORPHA:3299 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:330021 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria |
ORPHA:2158 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff... |
ORPHA:91139 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia, Aminoaciduria |
OMIM:273400 |
Glutathionuria |
|
Urinary incontinence, Glutathionuria |
OMIM:231950 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Arrhythmia, Aminoaciduria |
OMIM:249270 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria |
OMIM:605899 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy |
OMIM:613404 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis, Increased urinary potassium |
ORPHA:231580 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... |
ORPHA:84081 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:309541 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension |
ORPHA:79084 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Hypertension, A... |
OMIM:235400 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria |
OMIM:174810 |
Bardet-Biedl Syndrome |
|
Hypertension, Hypoplasia of penis, Nephrotic syndrome, Multicystic kidney dysplasia |
ORPHA:110 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria |
OMIM:609560 |
Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile |
ORPHA:391417 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Hypertension, Tubulointers... |
OMIM:617595 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent... |
ORPHA:411634 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine |
OMIM:215600 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Renovascular hyperte... |
ORPHA:49041 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Micropenis |
OMIM:613870 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine |
OMIM:271980 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... |
ORPHA:3287 |
Porphyria Variegata |
|
Tachycardia, Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Hypertension, Increased u... |
ORPHA:79473 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:29072 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic atta... |
ORPHA:183 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Epistaxis, Renal cortical adenoma |
ORPHA:231632 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite level |
OMIM:272300 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... |
OMIM:194080 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypocalciuria, Renal sodium wasting, Renal ... |
OMIM:612780 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, E... |
ORPHA:247691 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension |
OMIM:613877 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension |
ORPHA:280356 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria |
ORPHA:1933 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:617021 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Coach Syndrome 1 |
|
Portal hypertension, Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chr... |
OMIM:216360 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... |
ORPHA:47159 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... |
ORPHA:369929 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar... |
ORPHA:251004 |
Myasthenic Syndrome, Congenital, 22 |
|
Cystinuria |
OMIM:616224 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
ORPHA:23 |
Acute Intermittent Porphyria |
|
Dark urine, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Hyper... |
ORPHA:79276 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Proteinuria, Minimal change glomerulonephritis, Congestive heart failu... |
ORPHA:1830 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar... |
ORPHA:220393 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Portal hypert... |
OMIM:619487 |
Hyperprolinemia Type 2 |
|
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... |
ORPHA:79101 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:615474 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... |
ORPHA:31826 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Transient ischemic attack, Proteinuria, Stage 5 chronic kidney disease, Hype... |
OMIM:242900 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension |
OMIM:608600 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Hyperglycinuria |
OMIM:243500 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202110 |
Sickle Cell Disease |
|
Hematuria, Hypertension, Renal insufficiency |
OMIM:603903 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi... |
OMIM:115310 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Hypertension, Glomerulopathy |
ORPHA:2169 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... |
ORPHA:90068 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor... |
OMIM:208085 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria |
OMIM:204000 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Hypertension, Focal segmental glo... |
OMIM:232240 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte... |
OMIM:208000 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:43116 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Beta-alaninuria, Elevated urinary aminoisobutyric acid, M... |
OMIM:614105 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci... |
ORPHA:2088 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... |
OMIM:252150 |
Bartter Syndrome Type 4 |
|
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... |
ORPHA:89938 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria |
OMIM:250940 |
Riboflavin Transporter Deficiency |
|
Hypertension |
ORPHA:97229 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:236270 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy... |
OMIM:605711 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence |
ORPHA:75567 |
Sialidosis Type 1 |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... |
ORPHA:812 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Glomerulopathy, Renal insufficiency, Angina pec... |
ORPHA:324 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension |
OMIM:615980 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Familial Dysautonomia |
|
Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormality of the kid... |
ORPHA:1764 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria |
ORPHA:414 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Myocardial infarction |
OMIM:618620 |
Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232220 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
Alstrom Syndrome |
|
Renal insufficiency, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Tubulointers... |
OMIM:203800 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Hypertension, Abnormality of urine homeostasis, Palpitations |
ORPHA:1501 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Cardiomyopathy |
OMIM:102200 |
Wagro Syndrome |
|
Hypertension, Nephroblastoma, Proteinuria |
OMIM:612469 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic... |
OMIM:617729 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... |
ORPHA:447 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery stenosis, Hydroneph... |
OMIM:617913 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension |
ORPHA:363400 |
Alagille Syndrome |
|
Telangiectasia of the skin, Renal hypoplasia/aplasia, Abnormality of the ureter, Hypertension, Ne... |
ORPHA:52 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension |
OMIM:615238 |
D-Glyceric Aciduria |
|
Aminoaciduria, Bradycardia, Micropenis |
OMIM:220120 |
Alkaptonuria |
|
Hypertension, Aminoaciduria, Nephrolithiasis, Myocardial infarction |
ORPHA:56 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Nephrolithiasis, Cystinuria |
OMIM:606407 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Beta-aminoisobutyric aciduria |
OMIM:615330 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Apparent Mineralocorticoid Excess |
|
Hypertension |
OMIM:218030 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Spondyloenchondrodysplasia |
|
Proteinuria, Raynaud phenomenon, Chronic kidney disease, Vasculitis, Hematuria, Hypertension |
ORPHA:1855 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Hypertension, ... |
ORPHA:94093 |
Hyperparathyroidism, Neonatal Severe |
|
Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria |
OMIM:239200 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
Overlap Myositis |
|
Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension, Abnormality of the kidney |
ORPHA:206572 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Hypertension |
OMIM:610489 |
Xfe Progeroid Syndrome |
|
Hypertension, Renal insufficiency, Proteinuria |
OMIM:610965 |
Glucocorticoid Resistance, Generalized |
|
Hypertension |
OMIM:615962 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic aciduria |
OMIM:612073 |
Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension, Proteinuria |
ORPHA:79086 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Ketonuria, Hypotension |
ORPHA:134 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai... |
ORPHA:466677 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Nephrolithiasis |
OMIM:219090 |
Lead Poisoning |
|
Renal tubular dysfunction, Hypertension, Tubulointerstitial nephritis, Chronic kidney disease |
ORPHA:330015 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemoglobinuria, Hyp... |
ORPHA:90038 |
Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
Leigh Syndrome |
|
Congestive heart failure, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Rena... |
ORPHA:506 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Recurrent intrapulmonary hemorrhage, A... |
ORPHA:900 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Renal cyst |
OMIM:614424 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:614052 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Homocystinuria, Methylmalonic aciduria |
OMIM:614857 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Increased level of hippuric acid in urine, Hyperglycinuria |
OMIM:606054 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul... |
ORPHA:892 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension |
ORPHA:77296 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Cardiomyopathy, Aminoaciduria |
OMIM:616084 |
Seckel Syndrome 10 |
|
Hypertension, Congestive heart failure, Glycosuria |
OMIM:617253 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Hypertension, Urinary bladder sphincter dysfunction, Hypotension |
ORPHA:93256 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Intracranial hemorrhage, Hypertension, Increased urinary 11-deoxy... |
ORPHA:90795 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Bruck Syndrome 2 |
|
Hydroxyprolinuria |
OMIM:609220 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Nephrocal... |
ORPHA:90041 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hypertension, Renal cell carcinoma, Nephrolithiasis |
ORPHA:189427 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp... |
OMIM:609049 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension |
OMIM:604367 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinuria |
OMIM:616034 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... |
OMIM:229600 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension |
OMIM:617763 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Methioninuria, Homocystinuria, Myocardial infarction |
OMIM:236200 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... |
OMIM:219800 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage |
OMIM:300845 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
Hartnup Disease |
|
Abnormal urinary color, Neutral hyperaminoaciduria |
ORPHA:2116 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria, Elevated urine acetoacet... |
OMIM:620089 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia |
ORPHA:525731 |
Canavan Disease |
|
Elevated urinary N-acetylaspartic acid level |
OMIM:271900 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype... |
ORPHA:902 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Homocitrullinuria |
OMIM:238970 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Renal cell carcinoma, Multiple renal cysts |
OMIM:193300 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:79083 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension |
OMIM:615830 |
Lysinuric Protein Intolerance |
|
Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Oroticaciduria, Pulmonary hemorrhage |
OMIM:222700 |
Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:79126 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... |
OMIM:252160 |
Cockayne Syndrome Type 1 |
|
Hypertension, Renal insufficiency, Proteinuria |
ORPHA:90321 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
D-Glyceric Aciduria |
|
Hyperglycinuria |
ORPHA:941 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... |
ORPHA:544482 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Papillary ... |
ORPHA:363618 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Myocardial infarction |
OMIM:615812 |
Citrullinemia, Type Ii, Adult-Onset |
|
Argininosuccinic aciduria |
OMIM:603471 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Nephrolithiasis, Hyp... |
ORPHA:653 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... |
ORPHA:731 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension |
OMIM:219080 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R... |
ORPHA:48435 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension |
OMIM:610475 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... |
ORPHA:99827 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e... |
ORPHA:91500 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria |
OMIM:614946 |
Hurler Syndrome |
|
Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris |
ORPHA:93473 |
Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... |
OMIM:277900 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... |
OMIM:609242 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Ketonuria, Hyperglycinuria, Organic aciduria |
OMIM:210210 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Epistaxis, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Hypert... |
ORPHA:79259 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Aminoaciduria |
OMIM:619055 |
Fumarase Deficiency |
|
Elevated urine fumaric acid level, Aminoaciduria, Bilateral fetal pyelectasis, Increased urine su... |
OMIM:606812 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Increased urinary cortisol level |
ORPHA:199244 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:277410 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Portal hypertension |
OMIM:251880 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Micropenis, Hypospadias, Increased urinary 11-deoxycorticosterone level |
ORPHA:90793 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Hydr... |
OMIM:616580 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Hypertension |
ORPHA:786 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninuria, Homocystinuria, Methylmalonic aciduria |
OMIM:277380 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... |
OMIM:181270 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria |
OMIM:264700 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine |
OMIM:615501 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level |
OMIM:239000 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
OMIM:207900 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension |
ORPHA:449291 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hypertension, Nephronophthisis,... |
OMIM:266920 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... |
OMIM:208050 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria |
OMIM:602080 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... |
ORPHA:91387 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Vasculitis, Hematochezia, Hypertension, Nephrotic syndrome, Hypertrophic cardiomyopathy |
OMIM:615846 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertension, Hydronephrosis |
ORPHA:2750 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hypospadias |
OMIM:123790 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension |
ORPHA:98808 |
Argininemia |
|
Diaminoaciduria, Oroticaciduria |
OMIM:207800 |
Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopath... |
OMIM:615688 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Long penis |
OMIM:202010 |
Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret... |
ORPHA:139417 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, Micropenis, Abnormality of the kidney |
OMIM:209900 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension |
ORPHA:69663 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Hypertension, Ischemic stroke |
ORPHA:542643 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Stage 5 chronic kidney disease, Large vessel vascu... |
ORPHA:90340 |
Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypertension, Epispadias, Hypospadias |
ORPHA:2588 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval |
OMIM:614947 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Renal steatosis, Heart murmur, Abno... |
ORPHA:391665 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Micropenis, Hypertension, Arrhythmia |
OMIM:133540 |
Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Micropenis, Hypertension, Arrhythmia |
OMIM:216400 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation, Hypospadias |
OMIM:611962 |
Hyperlysinemia |
|
Decreased urine alpha-ketoglutarate concentration, Argininuria, Hyperlysinuria, Cystinuria |
ORPHA:2203 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Hypertrophic cardi... |
OMIM:124000 |
Alexander Disease |
|
Hypotension, Hypertension, Sudden cardiac death |
ORPHA:58 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria |
ORPHA:289157 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Orofaciodigital Syndrome I |
|
Hypertension, Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Hypertension, Abnormality... |
ORPHA:95699 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Low urinary cyclic AMP response to PTH administration |
ORPHA:79443 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria |
OMIM:615486 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... |
ORPHA:217085 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Portal hypertension, Abnormal renal morp... |
OMIM:194050 |
Xq21 Microdeletion Syndrome |
|
Hypertension, Renal artery stenosis |
ORPHA:1435 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
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, Abnormal tubulointerstitial morphology, Nephrocalcino... |
ORPHA:904 |
Hallermann-Streiff Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Aminoaciduria, Telangiectasia of the skin, Telangiectasia |
ORPHA:910 |
X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
Cranioectodermal Dysplasia 2 |
|
Hypertension, Renal insufficiency, Renal cyst |
OMIM:613610 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... |
ORPHA:91347 |
Acromegaly |
|
Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:963 |
Prader-Willi Syndrome |
|
Hypertension |
ORPHA:739 |
Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction |
OMIM:602535 |
Neurofibromatosis, Type I |
|
Hypertension, Renal artery stenosis |
OMIM:162200 |
Cushing Disease |
|
Increased urinary cortisol level, Hypertension, Capillary fragility, Myocardial infarction |
ORPHA:96253 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension, Polyuria |
OMIM:606721 |
Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Hematemesis, Nephrolithiasis, Hypercalciuria, Melena, Hypertension |
ORPHA:652 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula |
OMIM:300896 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized aminoaciduria, Corneal neovascularization |
ORPHA:404454 |
Somatomammotropinoma |
|
Hypertension, Mitral regurgitation, Dysuria, Hypertrophic cardiomyopathy |
ORPHA:314769 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension |
OMIM:151660 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
OMIM:220111 |
Yunis-Varon Syndrome |
|
Hypospadias, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Pulm... |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Transient ischemic attack, Retinal hemorrhage, Nephrocalcinosis, Hypertension,... |
ORPHA:51608 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Homocystinuria |
ORPHA:395 |
Atypical Werner Syndrome |
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Renal neoplasm, Telangiectasia of the skin, Congestive heart failure, Hypertension, Glycosuria, A... |
ORPHA:79474 |
Hutchinson-Gilford Progeria Syndrome |
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Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Immunodeficiency 87 And Autoimmunity |
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Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... |
OMIM:619573 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Myocardial infarction, Renal hypoplasia/aplasia, Ectopic kidney, High urin... |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, Myocardial infarction, Renal hypoplasia/aplasia, Ectopic kidney, High urin... |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, Myocardial infarction, Renal hypoplasia/aplasia, Ectopic kidney, High urin... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Myocardial infarction, Renal hypoplasia/aplasia, Ectopic kidney, High urin... |
ORPHA:99226 |
Liver Disease, Severe Congenital |
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Recurrent urinary tract infections, Hypospadias, Abnormal left ventricular function, Hydronephros... |
OMIM:619991 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Hypospadias, Renal hypoplasia, Multiple renal cysts, Polycystic kidn... |
ORPHA:567 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Micropenis |
OMIM:210710 |
Adams-Oliver Syndrome 1 |
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Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:100300 |
Neurofibromatosis Type 1 |
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Hypertension, Abnormality of the upper urinary tract |
ORPHA:636 |
17Q11 Microdeletion Syndrome |
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Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo... |
ORPHA:97685 |
Myhre Syndrome |
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Hypertension, Aortic valve stenosis |
OMIM:139210 |
Mucopolysaccharidosis Type 2 |
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Cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:580 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen... |
OMIM:308205 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hypospadias, Vesicovaginal fistula, Horseshoe kidney, Hypertension, Chordee, Micropenis |
OMIM:201750 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Homocystinuria |
OMIM:601552 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Hypertension, Capillary fragility, Myocardial infarction |
ORPHA:99889 |
Keutel Syndrome |
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Hypertension, Pulmonic stenosis |
OMIM:245150 |
Vascular Ehlers-Danlos Syndrome |
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Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cystocele, Renovascular hyper... |
ORPHA:286 |
Alström Syndrome |
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Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... |
ORPHA:64 |
Aspartylglucosaminuria |
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Mitral regurgitation, Aspartylglucosaminuria |
OMIM:208400 |
Carney Complex |
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Hypertension, Congestive heart failure |
ORPHA:1359 |
Aspartylglucosaminuria |
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Aspartylglucosaminuria |
ORPHA:93 |