Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated uridine in urine |
OMIM:618477 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Hypertriglyceridemia |
OMIM:619175 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Hyperprolinemia Type 1 |
|
Prolinuria, Proteinuria, Nephropathy |
ORPHA:419 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... |
OMIM:605814 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617609 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Lobular glomerulopathy, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria... |
OMIM:137950 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... |
OMIM:614131 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency |
OMIM:161900 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... |
OMIM:610725 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia |
ORPHA:71529 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
OMIM:615238 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome |
OMIM:614196 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy |
ORPHA:2820 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Stage 5 chronic kidney dis... |
ORPHA:54370 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617006 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... |
OMIM:611555 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... |
ORPHA:84090 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... |
OMIM:619155 |
Temple Syndrome |
|
Small for gestational age, Truncal obesity, Hypercholesterolemia, Hypertriglyceridemia, Overweight |
OMIM:616222 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... |
OMIM:207750 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Truncal obesity, Failure to thrive |
ORPHA:181393 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... |
OMIM:615244 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome |
ORPHA:839 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Abdominal obesity, Truncal obesity |
OMIM:615812 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... |
OMIM:618349 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:608709 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... |
OMIM:254900 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... |
ORPHA:567544 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Amyloidosis, Familial Visceral |
|
Hematuria, Nephropathy, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... |
OMIM:246700 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
OMIM:610717 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperlipidemia |
OMIM:617885 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hyperchloremia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... |
OMIM:300555 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Hypoalbuminemia... |
ORPHA:86816 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... |
ORPHA:329918 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... |
ORPHA:656 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... |
OMIM:134600 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Obesity |
ORPHA:254531 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
Galactokinase Deficiency |
|
Hypergalactosemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, Increased ... |
ORPHA:79237 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria |
OMIM:261100 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age |
OMIM:307030 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria |
OMIM:123550 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617731 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:616026 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Nephronophthisis 13 |
|
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614377 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Glycogen Storage Disease, Type Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
Hereditary Renal Hypouricemia |
|
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... |
ORPHA:94088 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:618913 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... |
OMIM:617730 |
Laron Syndrome |
|
Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
ORPHA:650 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Fechtner syndrome |
|
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:153640 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
ORPHA:412 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal insufficiency, Renal amyloidosis |
OMIM:134610 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... |
ORPHA:567548 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... |
ORPHA:247585 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Obesity, Small for gestational age, Truncal obesity |
ORPHA:96184 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:225 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Obesity, Hyperuricemia |
ORPHA:77296 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Acute kidney injury, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... |
ORPHA:85445 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:375 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive |
OMIM:616834 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia |
OMIM:603471 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... |
OMIM:241150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612926 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia, Failure to thrive |
ORPHA:528 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Glomerulopathy, Nephroblastoma, Proteinur... |
ORPHA:347 |
Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney |
ORPHA:275555 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... |
OMIM:104200 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:610205 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome |
OMIM:215250 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:228302 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Hypouricemia, Renal, 1 |
|
Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, Increased urin... |
OMIM:220150 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Failure to thri... |
OMIM:278000 |
Cog4-Cdg |
|
Hypercholesterolemia, Failure to thrive in infancy |
ORPHA:263501 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... |
OMIM:300009 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Overweight |
ORPHA:401923 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Failure to thrive, Hypertriglyceridemia, Decreased body weight, Increased circula... |
ORPHA:444490 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:1192 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... |
OMIM:617575 |
Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia |
ORPHA:682 |
Galactosemia I |
|
Increased level of galactitol in urine, Galactosuria, Albuminuria, Aminoaciduria |
OMIM:230400 |
Lipe-Related Familial Partial Lipodystrophy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435660 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:618348 |
Sitosterolemia 1 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia |
OMIM:210250 |
Myh9-Related Disease |
|
Renal insufficiency, Nephritis, Proteinuria, Nephropathy |
ORPHA:182050 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome |
OMIM:618347 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Proteinuria, Renal artery stenosis, Nephropathy |
OMIM:209010 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnormality of the ki... |
ORPHA:261222 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Obesity Due To Congenital Leptin Deficiency |
|
Obesity, Hypertriglyceridemia |
ORPHA:66628 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Hyperlipidemia |
ORPHA:2089 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Obesity, Hypertriglyceridemia |
ORPHA:179494 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... |
OMIM:619662 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Hematuria, Unilateral renal dysplasia, Pro... |
OMIM:146255 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Obesity, Overweight |
ORPHA:69663 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia |
OMIM:617595 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Elevated circulating crea... |
ORPHA:98855 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... |
ORPHA:2260 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... |
OMIM:308940 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Xfe Progeroid Syndrome |
|
Proteinuria, Renal insufficiency |
OMIM:610965 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Obesity, Failure to thrive in infancy, Hypertriglyceridemia |
ORPHA:819 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Proteinuria, Nephropathy |
ORPHA:1765 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:171876 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Elevated circulating crea... |
ORPHA:98863 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia |
OMIM:608885 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Elevated circulating crea... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Elevated circulating crea... |
ORPHA:98853 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, F... |
ORPHA:370 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... |
OMIM:120330 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... |
ORPHA:264580 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney |
ORPHA:369 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, I... |
ORPHA:79240 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia |
OMIM:304900 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... |
OMIM:603553 |
Mu-Heavy Chain Disease |
|
Bence Jones Proteinuria, Nephropathy |
ORPHA:100024 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... |
OMIM:301050 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... |
OMIM:300554 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Glomerulo... |
OMIM:614376 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Chronic kidney disease, Recurren... |
ORPHA:368 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... |
ORPHA:93126 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wasting, Polyuria |
OMIM:613845 |
Neuraminidase Deficiency |
|
Proteinuria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialope... |
OMIM:256550 |
Primary Fanconi Renotubular Syndrome |
|
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
Wilson Disease |
|
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Hyperca... |
OMIM:277900 |
Glycogen Storage Disease Iii |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia |
OMIM:232400 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria |
OMIM:619428 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
Gaisböck Syndrome |
|
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Overweight,... |
ORPHA:90041 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
OMIM:220110 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine |
OMIM:171420 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary norepinephrine, E... |
ORPHA:276621 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Renal Agenesis |
|
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... |
ORPHA:411709 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Nephropathy |
ORPHA:2774 |
Cystinosis |
|
Renal tubular dysfunction, Nephropathy, Aminoaciduria, Proteinuria, Renal insufficiency |
ORPHA:213 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
ORPHA:436271 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hypertriglyceridemia |
OMIM:617591 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Truncal obesity, Hyperuricemia |
OMIM:203800 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Failure to thrive |
OMIM:613327 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Proteinuria, Renal agenesis |
OMIM:191830 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Hypercholesterolemia, Xanth... |
ORPHA:275761 |
Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:609049 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:210550 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... |
ORPHA:411634 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... |
ORPHA:85450 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyper... |
ORPHA:90674 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:91138 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... |
ORPHA:18 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
Microtriplication 11Q24.1 |
|
Obesity, Hyperlipidemia |
ORPHA:289522 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... |
ORPHA:47159 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Chr... |
ORPHA:439232 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Proteinuria, Renal insufficiency |
ORPHA:1307 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Obesity |
OMIM:619471 |
Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Nephrotic syndrome |
OMIM:242900 |
Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:261476 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninuria, Methylmalonic aciduria, Hematuria, Homocystinuria, Hemolytic-uremic syndrome, N... |
OMIM:277400 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Lysinuric Protein Intolerance |
|
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... |
ORPHA:470 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Multiple glomerular cysts, Renal cyst, Nephrolithiasis, Glycosuria... |
OMIM:137920 |
Hereditary Pheochromocytoma-Paraganglioma |
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Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosis, Elevated uri... |
ORPHA:29072 |
Pediatric Systemic Lupus Erythematosus |
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Nephrotic syndrome, Abnormality of the urinary system, Hematuria, Nephritis, Dark urine, Proteinu... |
ORPHA:93552 |
Coenzyme Q10 Deficiency, Primary, 1 |
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Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome |
OMIM:607426 |
Free Sialic Acid Storage Disease |
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Proteinuria, Nephrotic syndrome |
ORPHA:834 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney |
ORPHA:251004 |
Ddost-Cdg |
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Nephrotic range proteinuria |
ORPHA:300536 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Abnormal renal physiology, Microscopic hematuria, Proteinuria, Hemolytic-uremic syndrome |
OMIM:274150 |
Schimke Immuno-Osseous Dysplasia |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
ORPHA:1830 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Hypokalemia |
OMIM:188580 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Renal Fanconi syndrome, Proteinuria, Glycosuria |
ORPHA:263455 |
Malignant Hyperthermia Of Anesthesia |
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Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Hypokalemia |
OMIM:602722 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Sta... |
ORPHA:567546 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... |
ORPHA:488627 |
Fabry Disease |
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Renal insufficiency, Lipiduria, Proteinuria, Urinary mulberry cells |
OMIM:301500 |
Hypokalemic Periodic Paralysis |
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Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |
Hypocomplementemic Urticarial Vasculitis |
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Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:36412 |
Neutral Lipid Storage Disease With Ichthyosis |
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Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98907 |
Pseudo-Torch Syndrome 3 |
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Acute kidney injury, Proteinuria |
OMIM:618886 |
Acquired Generalized Lipodystrophy |
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Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Tangier Disease |
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Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Glycogen Storage Disease Vii |
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Exercise-induced myoglobinuria |
OMIM:232800 |
Thyrotoxic Periodic Paralysis |
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Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... |
ORPHA:79102 |
Mucopolysaccharidosis-Plus Syndrome |
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Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Protein... |
OMIM:617303 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
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Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:86818 |
Mirage Syndrome |
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Hyperkalemia, Hyponatremia |
OMIM:617053 |
Autosomal Recessive Spastic Paraplegia Type 63 |
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Decreased body weight |
ORPHA:401805 |
Lymphedema-Distichiasis Syndrome |
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Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Glomerulopat... |
ORPHA:33001 |
Aicardi-Goutieres Syndrome 9 |
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Glomerular sclerosis, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Micrope... |
OMIM:619487 |
Simple Cryoglobulinemia |
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Nephrotic syndrome, Nephritis, Mesangial hypercellularity, Microscopic hematuria, Membranoprolife... |
ORPHA:91139 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
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Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
Diffuse Alveolar Hemorrhage |
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Hematuria, Proteinuria |
ORPHA:90060 |
Familial Glucocorticoid Deficiency |
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Hyperkalemia, Hyponatremia |
ORPHA:361 |
Diarrhea 1, Secretory Chloride, Congenital |
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Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperlipidemia, Failure to thrive, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyc... |
ORPHA:79259 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2715 |
Glycogen Storage Disease Ia |
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Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
Acute Adrenal Insufficiency |
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Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level |
ORPHA:95409 |
Pheochromocytoma |
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Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine |
OMIM:171300 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Hematuria, Proteinuria |
OMIM:192315 |
Hyperaldosteronism, Familial, Type Iii |
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