Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... |
OMIM:619263 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... |
OMIM:618176 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... |
OMIM:614196 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... |
OMIM:618594 |
Nephrotic Syndrome, Type 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... |
OMIM:256370 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... |
OMIM:600995 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... |
OMIM:616892 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Short stature, Hyposthenuria, Glycosuria,... |
OMIM:308990 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis |
OMIM:249660 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Diffuse me... |
OMIM:256300 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... |
ORPHA:567544 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Reversible renal failure, Anterior uveitis, Elevated circulating creatinine concentra... |
OMIM:607665 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Short stature, Proteinuria, Stage 5 chronic kidn... |
OMIM:617730 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... |
OMIM:603278 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria |
ORPHA:419 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Short stature, Eczema, Ig... |
OMIM:618348 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... |
OMIM:619155 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... |
ORPHA:228302 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Short stature, Proteinuria, Glomerular sclerosis, Intrauterine growth retarda... |
OMIM:301006 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Short stature, Nephropathy, Gout, Focal segmental glomerulosclerosis, Ren... |
OMIM:617056 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... |
OMIM:615862 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... |
OMIM:617575 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, Elevated circulating creatinine ... |
OMIM:614376 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... |
OMIM:619609 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... |
OMIM:601894 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... |
ORPHA:93126 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinur... |
OMIM:618347 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Gout, Tubulointerstitial nephritis, Multiple small m... |
OMIM:603860 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... |
ORPHA:1652 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... |
OMIM:608709 |
Nail-Patella-Like Renal Disease |
|
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:2613 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomer... |
OMIM:617006 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... |
ORPHA:63 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Re... |
ORPHA:54370 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Severe short stature, Nephropathy, Proteinuria |
ORPHA:2820 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent pneumonia, Renal insuffic... |
OMIM:613779 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy |
OMIM:602114 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Hypoalbumin... |
ORPHA:255249 |
C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Growth delay, Ren... |
OMIM:606966 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616629 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... |
OMIM:611555 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Stage 5 chronic kidney disease |
OMIM:618250 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Retinitis Pigmentosa 59 |
|
Intrauterine growth retardation, Renal insufficiency, Micropenis |
OMIM:613861 |
Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Cystinuria |
|
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... |
OMIM:220100 |
Frasier Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... |
ORPHA:347 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu... |
OMIM:615993 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Hypoalbuminemi... |
ORPHA:84090 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal hypop... |
OMIM:617595 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Short stature, Hypoalbuminemia, Proteinuria, Int... |
OMIM:617729 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Growth delay, Glomerular sclerosis |
OMIM:619428 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... |
ORPHA:439232 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis... |
ORPHA:567546 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... |
OMIM:194080 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k... |
ORPHA:157 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Galactosemia I |
|
Increased level of galactitol in urine, Increased level of galactitol in red blood cells, Aminoac... |
OMIM:230400 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... |
ORPHA:275555 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Tubulointerstitial nephrit... |
OMIM:251000 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Proteinuria |
OMIM:189800 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia |
OMIM:609886 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul... |
ORPHA:228308 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... |
OMIM:235400 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Abnormal renal corticomedullary differentiation, Elevated circulating creatinine... |
OMIM:616733 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Decreased glomerular filtration rate, Renal tubular atrophy, Nephropathy, Gout, Renal ... |
OMIM:162000 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... |
ORPHA:449395 |
Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... |
OMIM:609814 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... |
OMIM:603592 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... |
OMIM:300555 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Short statur... |
OMIM:232200 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency |
OMIM:615995 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Elevated circulating creatine kinase concentration, ... |
OMIM:607426 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Short stature, Macroscopic hematuria, Membranoproliferative glomer... |
ORPHA:251004 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... |
ORPHA:93101 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611498 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... |
ORPHA:839 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Gout, Elevated circulating creatini... |
ORPHA:79233 |
Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Short stature |
OMIM:618681 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... |
OMIM:263200 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:488627 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency |
ORPHA:1909 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Abnormal circulating lipid concentration |
ORPHA:225 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:223900 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Tubulointerstitial nephritis |
OMIM:614582 |
Glycogen Storage Disease V |
|
Dark urine, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperuricemia |
OMIM:232600 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Decreased glomerular filtration rate,... |
ORPHA:470 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Short statur... |
OMIM:232220 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Short stature, Focal segmental glomerulosclerosi... |
OMIM:251300 |
Coach Syndrome 3 |
|
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... |
OMIM:619113 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Dysplasia Epiphysealis Hemimelica |
|
Overgrowth |
OMIM:127800 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:160010 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, St... |
OMIM:616307 |
Alstrom Syndrome |
|
Chronic active hepatitis, Nephritis, Otitis media, Short stature, Decreased HDL cholesterol conce... |
OMIM:203800 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis |
OMIM:232500 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Short stature, Conjugated hyperbilirubinemia, Proteinuria, Increased serum bi... |
OMIM:620010 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Olig... |
ORPHA:340 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Gout, Foca... |
OMIM:232240 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalcemia, Elevated urinary epinephrine, E... |
ORPHA:276621 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
Aicardi-Goutieres Syndrome 9 |
|
Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Chilblains, Thickened glo... |
OMIM:619487 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... |
ORPHA:49041 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Skin rash, Endocarditis, Hematuria, Myocarditis, Arthritis, Myositis, Tubulointerstiti... |
ORPHA:183 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Chilblains, Proteinuria, Growt... |
OMIM:619858 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Hyperuricosuria, Arthritis, Stage 4 chronic kidney disease, Acute kidney injury, Hy... |
ORPHA:411536 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Tubulointerstitial... |
ORPHA:139402 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... |
OMIM:612933 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent skin infections, Recurrent urinary tract infections, Renal duplication, Tubulointerstit... |
ORPHA:33001 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Skin rash, Nephropathy, Elevated circulating creatinine concentration, Proteinuria, Pneumonia, Gl... |
ORPHA:247691 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Nephrotic syndrome, Eczematoid dermatit... |
ORPHA:37042 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Glycogen Storage Disease X |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:261670 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Lead Poisoning |
|
Renal tubular dysfunction, Chronic kidney disease, Increased LDL cholesterol concentration, Skin ... |
ORPHA:330015 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Duplication Of Urethra |
|
Dysuria, Chordee, Epispadias, Distal urethral duplication, Bladder duplication, Micropenis, Hypos... |
ORPHA:237 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
Nephrosialidosis |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency |
OMIM:256150 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Short stature |
ORPHA:459061 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Schimke Immuno-Osseous Dysplasia |
|
Intrauterine growth retardation, Hyperlipidemia, Pancreatitis, Nephrotic range proteinuria, Short... |
ORPHA:1830 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria, Short stature |
ORPHA:66631 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Short stature, Nephronophthisis, Stage 5 chronic kidney disease |
ORPHA:3156 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Skin rash, Nephropathy, Hematuria, Proteinuria |
OMIM:105200 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:274150 |
Systemic Sclerosis |
|
Chronic kidney disease, Osteomyelitis, Recurrent skin infections, Abnormality of the kidney, Elev... |
ORPHA:90291 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Gout, Hematuria, Hyperuricemia |
ORPHA:510 |
Joubert Syndrome 4 |
|
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Thyroiditis, Periodontitis, Hyperlipidemia, Pancreatitis, Enterocolitis, Short s... |
ORPHA:79259 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca |
OMIM:270150 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Short... |
OMIM:120330 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Panuveitis, Elevated circulating C-reactive protein concentration, D... |
ORPHA:91500 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Proteinuria, Hypercalcemia, Elevated ... |
ORPHA:29072 |
Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Hyperuricemia, Ve... |
ORPHA:261222 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Hereditary Xanthinuria |
|
Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infections, Xanthinuria, Hyperxanthin... |
ORPHA:3467 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Enlarged kidney, Focal segmental glomerulos... |
OMIM:617303 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Glycosuri... |
OMIM:134600 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Disproportionate short-trunk short stature, Focal segmental glomerulosclerosi... |
OMIM:242900 |
Pierson Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Hypoproteinemia, Hyperechogenic kidneys, Protein... |
OMIM:609049 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:375 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Al Amyloidosis |
|
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Increased cir... |
ORPHA:85443 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Short stature, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal ins... |
OMIM:613388 |
Uremic Pruritus |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... |
ORPHA:94059 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... |
ORPHA:85445 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lacticaciduria, Aminoaciduria, Pancreatitis, Elevated circulating creatine kinase concentration, ... |
OMIM:619386 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Hyperuricosuria, Gout, Arthritis, Renal insufficiency, Hyperuricemia, Acute kidney ... |
ORPHA:411543 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:203780 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Nocturia, Gout, Focal segmenta... |
ORPHA:358 |
Tyrosinemia, Type I |
|
Hypophosphatemic rickets, Elevated alpha-fetoprotein, Elevated urinary delta-aminolevulinic acid,... |
OMIM:276700 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... |
OMIM:613095 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... |
ORPHA:158684 |
Malaria |
|
Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Hemoglobinuria, Elevated circulating creatinine concentration, Unconjugated hyperbil... |
ORPHA:90038 |
Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Podagra |
OMIM:300323 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Short stature |
ORPHA:1192 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency |
OMIM:615996 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Renal insufficiency |
ORPHA:890 |
Cocaine Intoxication |
|
Colitis, Elevated circulating creatine kinase concentration, Hematuria, Tubulointerstitial nephri... |
ORPHA:90068 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Short stature, Abnormality of the kidney, Proteinuria, Delayed puberty, Growth delay |
ORPHA:369 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Short stature, Glycosuria, Proteinuria, Hyperphosphaturia, Nephr... |
OMIM:616026 |
Arima Syndrome |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Polycystic kidney dysplasia... |
OMIM:243910 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Conjugated ... |
OMIM:613404 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:220 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis, Short stature |
ORPHA:474 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Acrorenal Syndrome, Autosomal Recessive |
|
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency |
OMIM:201310 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, G... |
OMIM:137920 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Acute kidney inju... |
ORPHA:99845 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... |
ORPHA:93110 |
Fechtner syndrome |
|
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:153640 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... |
OMIM:610984 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Cholangitis |
OMIM:124000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Diffuse mesangial sclerosis, Skin rash, Chronic ... |
OMIM:102700 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Postnatal growth retardation, Duplicated collecting system, Intrauterine growth retardation, Hydr... |
OMIM:617093 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... |
OMIM:614748 |
Hypervitaminosis A, Susceptibility To |
|
Renal insufficiency, Hypercalcemia |
OMIM:240150 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency |
OMIM:105120 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami... |
ORPHA:411634 |
Hypouricemia, Renal, 1 |
|
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... |
OMIM:220150 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... |
OMIM:300554 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Short stature, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia |
OMIM:617661 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadias, Hydronephro... |
OMIM:214100 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... |
ORPHA:93598 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... |
ORPHA:99879 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... |
OMIM:613845 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
Muckle-Wells Syndrome |
|
Elevated circulating C-reactive protein concentration, Short stature, Maculopapular exanthema, Re... |
OMIM:191900 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Maculopapular exanthem... |
OMIM:619644 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections |
ORPHA:454 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Pancreatitis, Hyperammonemia, Renal insufficiency, Growth delay |
ORPHA:289916 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Senior-Loken Syndrome 4 |
|
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Cystinuria |
|
Nephrolithiasis, Hematuria, Hyperuricemia, Renal insufficiency |
ORPHA:214 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria |
OMIM:314000 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Displacement of the urethral meatus, Hypoplasia of penis, Short stature |
ORPHA:2377 |
Cystinosis |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Nephropat... |
ORPHA:213 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Fetal megacystis |
OMIM:618719 |
Cortisone Reductase Deficiency 2 |
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Obesity |
OMIM:614662 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Renal cortical hyperechogenicity, Fetal megacystis, Pyelonephritis, Anuria, Megacystis |
OMIM:619351 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
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Renal insufficiency, Renal cyst, Nephropathy, Hematuria |
OMIM:611773 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Short stature, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Tubulointerstitial fibrosis, ... |
OMIM:607944 |
Bacterial Toxic-Shock Syndrome |
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Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Elevat... |
ORPHA:36234 |
Syndromic Recessive X-Linked Ichthyosis |
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Unilateral renal agenesis, Renal insufficiency, Short stature |
ORPHA:281090 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Mucopolysacchariduria, Nephrotic syndrome, Proteinuria, Short stature |
OMIM:215250 |
Intermediate Uveitis |
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Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
Xanthinuria, Type I |
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Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
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Obesity |
OMIM:619058 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Glomerulonephritis, Pneumonia |
OMIM:247800 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Growth delay, Periodontitis, Moderate albuminuria, Hydronephrosis, Proportionate short stature |
OMIM:619269 |
Myh9-Related Disease |
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Renal insufficiency, Nephropathy, Nephritis, Proteinuria |
ORPHA:182050 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
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Arthritis, Elevated circulating C-reactive protein concentration, Crescentic glomerulonephritis, ... |
OMIM:616414 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
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Gout, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease |
OMIM:618061 |
Infection-Related Hemolytic Uremic Syndrome |
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Hypocalcemia, Nephrotic range proteinuria, Hyperkalemia, Oliguria, Acute kidney injury, Hyponatre... |
ORPHA:544482 |
Primary Hyperoxaluria Type 2 |
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Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal i... |
ORPHA:93599 |
Gapo Syndrome |
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Growth delay, Tubulointerstitial fibrosis |
OMIM:230740 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Obesity |
ORPHA:2206 |
Rhyns Syndrome |
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Chronic kidney disease, Renal insufficiency, Nephronophthisis, Short stature |
OMIM:602152 |
Dyschondrosteosis-Nephritis Syndrome |
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Short stature, Nephropathy, Hematuria, Proteinuria, Intrauterine growth retardation, Mesomelic sh... |
ORPHA:1765 |
Myoglobinuria, Recurrent |
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Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Diffuse Neonatal Hemangiomatosis |
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Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Growth delay, Hyperk... |
ORPHA:57 |
Relapsing Fever |
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Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Hematur... |
ORPHA:91547 |
Renal Coloboma Syndrome |
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Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
Hyperoxaluria, Primary, Type Ii |
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Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis |
OMIM:260000 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
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Dark urine, Recurrent myoglobinuria, Chronic kidney disease, Elevated circulating creatine kinase... |
ORPHA:368 |
Heme Oxygenase 1 Deficiency |
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Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Hypomagnesemia 3, Renal |
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Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... |
OMIM:248250 |
Apparent Mineralocorticoid Excess |
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Intrauterine growth retardation, Hypokalemia, Short stature, Abnormal urine sodium concentration,... |
ORPHA:320 |
Ochoa Syndrome |
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Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
Primary Sjögren Syndrome |
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Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Abnormality of the ... |
ORPHA:289390 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... |
OMIM:308940 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... |
OMIM:146255 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
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Hypercalciuria, Hypouricemia |
OMIM:242050 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
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Chronic kidney disease, Pustule, Elevated creatine kinase after exercise, Superficial dermal peri... |
ORPHA:284426 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
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Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
Distal Renal Tubular Acidosis |
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Nephrolithiasis, Growth delay, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, ... |
ORPHA:18 |
Cockayne Syndrome Type 1 |
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Increased blood urea nitrogen, Uveitis, Renal insufficiency, Proteinuria, Postnatal growth retard... |
ORPHA:90321 |
Congenital Disorder Of Glycosylation, Type Iig |
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Hypospadias, Rhizomelia, Renal insufficiency, Hydronephrosis, Postnatal growth retardation, Intra... |
OMIM:611209 |
Nephrogenic Diabetes Insipidus |
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Short stature, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the bladder, ... |
ORPHA:223 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
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Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... |
OMIM:609057 |
Dopamine Beta-Hydroxylase Deficiency |
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Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Elevated circulating creatini... |
ORPHA:230 |
Alg1-Cdg |
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Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia |
ORPHA:79327 |
Orthostatic Hypotension 1 |
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Nocturia, Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Joubert Syndrome 35 |
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Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis |
OMIM:618161 |
Systemic Lupus Erythematosus |
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Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis |
OMIM:152700 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
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Obesity |
OMIM:264010 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Renal insufficiency, Renal hypoplasia, Proteinuria, Short stature |
ORPHA:1307 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... |
OMIM:608836 |
Cranioectodermal Dysplasia 1 |
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Chronic kidney disease, Hypocalcemia, Stage 1 chronic kidney disease, Tubulointerstitial nephriti... |
OMIM:218330 |
Hyperprolinemia Type 2 |
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Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hyperprolinemia... |
ORPHA:79101 |
Cryoglobulinemic Vasculitis |
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Viral hepatitis, Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy, Keratoco... |
ORPHA:91138 |
Familial Renal Glucosuria |
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Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary tract infecti... |
ORPHA:69076 |
Goodpasture Syndrome |
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Cylindruria, Increased blood urea nitrogen, Macroscopic hematuria, Glomerular crescent formation,... |
OMIM:233450 |
Alport Syndrome 1, X-Linked |
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Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... |
OMIM:301050 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Neonatal death |
OMIM:257100 |
Phosphoglycerate Kinase 1 Deficiency |
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Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Diffuse Alveolar Hemorrhage |
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Elevated circulating creatinine concentration, Hematuria, Proteinuria |
ORPHA:90060 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:159 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Glycosuria, Moderat... |
ORPHA:99885 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
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Polyuria, Hypokalemia, Hydronephrosis |
OMIM:304900 |
Renal Glucosuria |
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Polyuria, Glycosuria, Enuresis nocturna |
OMIM:233100 |
Simple Cryoglobulinemia |
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Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepatitis, Abnormality of the ki... |
ORPHA:91139 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Recurrent urinary trac... |
OMIM:615559 |
Membranoproliferative Glomerulonephritis, X-Linked |
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Membranoproliferative glomerulonephritis |
OMIM:305800 |
Pseudo-Torch Syndrome 3 |
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Increased circulating ferritin concentration, Acute kidney injury, Lymphadenitis, Proteinuria |
OMIM:618886 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... |
OMIM:613090 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Hyperbilirubinemia, Skin rash, Elevated circulating creatinine concentration, Increased inflammat... |
ORPHA:542323 |
Free Sialic Acid Storage Disease |
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Nephrotic syndrome, Proteinuria |
ORPHA:834 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
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Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Glucose-Galactose Malabsorption |
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Nephrolithiasis, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia |
ORPHA:35710 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
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Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Proteinuria, Acne |
ORPHA:69126 |
Carcinoma Of Esophagus |
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Obesity, Weight loss |
ORPHA:70482 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
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Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Renal insufficiency, Hyperammonemia |
ORPHA:79312 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Renal insufficiency, Myoglobinuria, Hyperbilirubinemia |
ORPHA:713 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate |
OMIM:618182 |
Prune Belly Syndrome |
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Urogenital sinus anomaly, Abnormality of the ureter, Hydroureter, Multicystic kidney dysplasia, R... |
ORPHA:2970 |
Type 1 Diabetes Mellitus |
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Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Primary Fanconi Renotubular Syndrome |
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Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... |
ORPHA:3337 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Decreased seru... |
ORPHA:447 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Renal insufficiency, Hyperammonemia |
ORPHA:27 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
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Nephrolithiasis, Postnatal growth retardation, Hydroureter, Vesicoureteral reflux |
OMIM:617219 |
Melas |
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Short stature, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Recurrent pancreatit... |
ORPHA:550 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency |
OMIM:614922 |
Hypocomplementemic Urticarial Vasculitis |
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Skin rash, Hematuria, Arthritis, Uveitis, Renal insufficiency, Proteinuria, Glomerulopathy, Episc... |
ORPHA:36412 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... |
OMIM:248190 |
Fanconi Anemia, Complementation Group O |
|
Renal cyst, Short stature, Hydronephrosis, Stage 5 chronic kidney disease |
OMIM:613390 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria |
ORPHA:100024 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Elevated circulating creatine kinase concentration, Myoglobinuria |
ORPHA:98895 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Short stature |
ORPHA:2715 |
Yellow Fever |
|
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Elevated circulating crea... |
ORPHA:99829 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hypospadias, Mild proteinuria, Renal insufficiency, Hyperalaninemia, Gr... |
OMIM:619147 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... |
OMIM:300971 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Autoimmune Polyendocrinopathy Type 4 |
|
Iridocyclitis, Rheumatoid arthritis, Tubulointerstitial nephritis, Hepatitis, Atrophic gastritis,... |
ORPHA:227990 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Short stature, Proteinuria, Increased urinary O... |
OMIM:256550 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Acute kidney injury |
ORPHA:859 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Growth delay, Hypokalemia, Aminoaciduria, Mild postnatal growth retardation, Sho... |
ORPHA:47159 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Recurrent otitis media, Postnatal growth retardation, Intrauterine growth retardatio... |
ORPHA:2728 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Grow... |
OMIM:613550 |
Alagille Syndrome 1 |
|
Renal tubular acidosis, Renal dysplasia, Focal segmental glomerulosclerosis, Hypertriglyceridemia... |
OMIM:118450 |
Hypouricemia, Renal, 2 |
|
Nephrolithiasis, Hypouricemia |
OMIM:612076 |
Autoimmune Polyendocrinopathy Type 3 |
|
Iridocyclitis, Rheumatoid arthritis, Tubulointerstitial nephritis, Hepatitis, Hashimoto thyroidit... |
ORPHA:227982 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypomethioninemia, Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Hyperhomocysti... |
OMIM:277400 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... |
ORPHA:31824 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Gout, Hyperuricemia, Exercise-induced myoglobinuria |
OMIM:232800 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, Hypertriglyceridemia,... |
OMIM:619127 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis |
OMIM:143880 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Discoid lupus rash, Nephrotic syndrome, Nephritis, Skin rash, Abnormality of the urin... |
ORPHA:93552 |
Systemic Capillary Leak Syndrome |
|
Oliguria, Renal insufficiency, Abnormal renal tubule morphology |
ORPHA:188 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Short stature, Renal dysplasia, Renal hypoplasia, Renal insufficiency |
ORPHA:85321 |
Legionnaires Disease |
|
Pancreatitis, Endocarditis, Hematuria, Myocarditis, Hepatitis, Renal insufficiency, Proteinuria, ... |
ORPHA:549 |
Majeed Syndrome |
|
Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Abnormal inflammatory response, Pro... |
ORPHA:77297 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency |
OMIM:617478 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia, Postnatal growth retardation, Intrauterin... |
OMIM:614732 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Chordee, Hypospadias, Renal dysplasia, Renal insufficiency, Postnatal growth retardation, Elevate... |
ORPHA:96179 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Nephropathy, Renal insufficiency, Short stature |
ORPHA:1563 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:330001 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Short stature, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis |
OMIM:161200 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... |
OMIM:617641 |
Babesiosis |
|
Renal insufficiency |
ORPHA:108 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Actinic Prurigo |
|
Glomerulonephritis, Cheilitis, Pyoderma |
OMIM:174770 |
|