Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
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 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... |
ORPHA:90283 |
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 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Focal Segmental Glomerulosclerosis 10 |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
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 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process efface... |
OMIM:617006 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Lobular glomerulopathy, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria... |
OMIM:137950 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Primary Membranoproliferative Glomerulonephritis |
|
C3 nephritic factor positivity, Nephrotic syndrome, Glomerular subendothelial electron-dense depo... |
ORPHA:54370 |
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 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Nephritis |
OMIM:614420 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617609 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... |
OMIM:614131 |
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 |
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 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:615573 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Systemic lupus erythematosus, Renal insufficiency, Nephrotic syndrome, Membranoproliferative glom... |
OMIM:613779 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Galactosemia I |
|
Increased level of galactitol in urine, Galactosuria, Albuminuria, Aminoaciduria |
OMIM:230400 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... |
OMIM:610725 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy |
ORPHA:2820 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Hematuria, Stage 5 chronic kidn... |
ORPHA:329918 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome |
OMIM:614196 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Autoimmunity, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Nephritis |
OMIM:216950 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
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 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... |
ORPHA:84090 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... |
ORPHA:567544 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... |
OMIM:254900 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
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 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... |
OMIM:619155 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... |
OMIM:615244 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Amyloidosis, Familial Visceral |
|
Hematuria, Nephropathy, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome |
ORPHA:839 |
Anti-Glomerular Basement Membrane Disease |
|
Autoimmunity, Hematuria, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:375 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Autoimmune thrombocytopenia, Systemic lupus erythematosus, Autoimmune hemolytic anemia |
ORPHA:444463 |
Preeclampsia |
|
Autoimmunity, Acute kidney injury, Chronic kidney disease, Proteinuria, Abnormality of the kidney |
ORPHA:275555 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Sta... |
ORPHA:567546 |
Systemic Sclerosis |
|
Antinuclear antibody positivity, Anti-centromere antibody positivity, Anti-topoisomerase I antibo... |
ORPHA:90291 |
Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... |
OMIM:300555 |
Igg4-Related Kidney Disease |
|
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... |
ORPHA:449395 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency |
OMIM:245900 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... |
ORPHA:656 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus |
ORPHA:411593 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... |
OMIM:134600 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Diffuse Alveolar Hemorrhage |
|
Autoimmunity, Antineutrophil antibody positivity, Hematuria, Rheumatoid factor positive, Proteinu... |
ORPHA:90060 |
Immunodeficiency 7 |
|
Autoimmunity |
OMIM:615387 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617731 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Systemic lupus erythematosus, Antinuclear antibody positivity, Rheumatoid arthritis |
OMIM:178610 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria |
OMIM:261100 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Al Amyloidosis |
|
Nephrotic syndrome, Renal interstitial amyloid deposits, Albuminuria, Proteinuria, Renal insuffic... |
ORPHA:85443 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria |
OMIM:214100 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
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 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria |
OMIM:123550 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... |
OMIM:617730 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:618913 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:225 |
Fechtner syndrome |
|
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:153640 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... |
ORPHA:567548 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:616026 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Acute kidney injury, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Antinuclear antibody positivity, Decreased g... |
ORPHA:93126 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Abnormality of the urinary system, Antinuclear antibody positivity, Hematuria... |
ORPHA:93552 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... |
ORPHA:85445 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal insufficiency, Renal amyloidosis |
OMIM:134610 |
Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic anemia |
ORPHA:90035 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Nephronophthisis 13 |
|
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614377 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Protei... |
ORPHA:650 |
Glycogen Storage Disease, Type Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... |
OMIM:300009 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:1192 |
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 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Glomerulopathy, Nephroblastoma, Proteinur... |
ORPHA:347 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis |
OMIM:270150 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:610205 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... |
OMIM:104200 |
Type 1 Diabetes Mellitus |
|
Autoimmunity, Polyuria |
OMIM:222100 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome |
OMIM:215250 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Renal tubular dysfunction, Glycosuria, Abnormality of the upper urinary tra... |
ORPHA:99885 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmunity, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune hemolytic anemia |
ORPHA:90036 |
Pemphigus Erythematosus |
|
Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... |
ORPHA:79480 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:618348 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:228302 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... |
OMIM:617575 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome |
OMIM:618347 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnormality of the ki... |
ORPHA:261222 |
Myh9-Related Disease |
|
Renal insufficiency, Nephritis, Proteinuria, Nephropathy |
ORPHA:182050 |
Spondyloenchondrodysplasia |
|
Autoimmunity, Hematuria, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Anti-dsDNA an... |
ORPHA:1855 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
Xfe Progeroid Syndrome |
|
Proteinuria, Renal insufficiency |
OMIM:610965 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... |
OMIM:308940 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:231154 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Hematuria, Unilateral renal dysplasia, Pro... |
OMIM:146255 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney |
ORPHA:369 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... |
ORPHA:2260 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmunity, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune hemolytic anemia |
ORPHA:90033 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Proteinuria, Nephropathy |
ORPHA:1765 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Proteinuria, Renal artery stenosis, Nephropathy |
OMIM:209010 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... |
OMIM:120330 |
Neuraminidase Deficiency |
|
Proteinuria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialope... |
OMIM:256550 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Chronic kidney disease, Recurren... |
ORPHA:368 |
Primary Fanconi Renotubular Syndrome |
|
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Glomerulo... |
OMIM:614376 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... |
OMIM:300554 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... |
OMIM:301050 |
Wilson Disease |
|
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Hyperca... |
OMIM:277900 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wasting, Polyuria |
OMIM:613845 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria |
OMIM:619428 |
Hypocomplementemic Urticarial Vasculitis |
|
Autoimmunity, Hematuria, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:36412 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis |
ORPHA:48377 |
Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
OMIM:220110 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Cystinosis |
|
Renal tubular dysfunction, Nephropathy, Aminoaciduria, Proteinuria, Renal insufficiency |
ORPHA:213 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary norepinephrine, E... |
ORPHA:276621 |
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 |
Schimke Immuno-Osseous Dysplasia |
|
Autoimmunity, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chro... |
ORPHA:1830 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Nephropathy |
ORPHA:2774 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine |
OMIM:171420 |
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 |
Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Nephritis, Rheumatoid factor positive, Mesangial hypercellularity, Microscopi... |
ORPHA:91139 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Proteinuria, Renal agenesis |
OMIM:191830 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:210550 |
Renal Agenesis |
|
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... |
ORPHA:411709 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:91138 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... |
ORPHA:18 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninuria, Methylmalonic aciduria, Hematuria, Homocystinuria, Hemolytic-uremic syndrome, N... |
OMIM:277400 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... |
ORPHA:47159 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Nephrotic syndrome |
OMIM:242900 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis |
OMIM:619525 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Proteinuria, Renal insufficiency |
ORPHA:1307 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Chr... |
ORPHA:439232 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Autoimmunity, Tubulointerstitial nephritis, Hematuria, Glomerulopathy, Proteinuria, Renal insuffi... |
ORPHA:183 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:609049 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosis, Elevated uri... |
ORPHA:29072 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Proteinuria, Glycosuria |
ORPHA:263455 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome |
ORPHA:834 |
Genetic Recurrent Myoglobinuria |
|
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... |
ORPHA:99845 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... |
ORPHA:488627 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney |
ORPHA:251004 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
Fabry Disease |
|
Renal insufficiency, Lipiduria, Proteinuria, Urinary mulberry cells |
OMIM:301500 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome |
OMIM:607426 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Microscopic hematuria, Proteinuria, Hemolytic-uremic syndrome |
OMIM:274150 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Hematuria, Stage 5 chronic kidney disease, Smooth muscle antibody positivity, Nephropathy, Chroni... |
ORPHA:1018 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Multiple glomerular cysts, Renal cyst, Nephrolithiasis, Glycosuria... |
OMIM:137920 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria |
ORPHA:57 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Protein... |
OMIM:617303 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Aicardi-Goutieres Syndrome 9 |
|
Glomerular sclerosis, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Micrope... |
OMIM:619487 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Goodpasture Syndrome |
|
Macroscopic hematuria, Cytoplasmic antineutrophil antibody positivity, Anti-glomerular basement m... |
OMIM:233450 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Glomerulopat... |
ORPHA:33001 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Moderate albuminuria, Abnormal penis morphology, Hematuria, Dysuria, Acute kidney injury, Renal t... |
ORPHA:95455 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2715 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:86818 |
Glycogen Storage Disease Vii |
|
Exercise-induced myoglobinuria |
OMIM:232800 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... |
OMIM:617729 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
Legionnaires Disease |
|
Hematuria, Proteinuria, Renal insufficiency |
ORPHA:549 |
Galloway-Mowat Syndrome |
|
Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:2065 |
Malakoplakia |
|
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria |
ORPHA:556 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Systemic lupus erythematosus, Nephritis, Glycosuria, Proteinuria, Antinuclear antib... |
ORPHA:2298 |
Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232220 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chr... |
ORPHA:157 |
Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine |
OMIM:171300 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal tubulointerstitial... |
ORPHA:411629 |
Acquired Generalized Lipodystrophy |
|
Autoimmunity, Proteinuria |
ORPHA:79086 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Red-brown urine, Myoglobinuria |
ORPHA:228305 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Glomerular sclerosis, Nephropathy |
ORPHA:247691 |
Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Proteinuria, Renal cyst, Nephrotic syndrome |
OMIM:212065 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Dicarboxyli... |
ORPHA:228308 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Ornithinuria, Decreased glomerular filtration rate,... |
ORPHA:470 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hematuria, Decreased glomerular filtration rate, Proteinuria,... |
OMIM:232240 |
Postinfectious Vasculitis |
|
Hematuria, Rheumatoid factor positive, Cytoplasmic antineutrophil antibody positivity, Membranopr... |
ORPHA:48435 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypospadias, Mild proteinuria, Renal insufficiency |
OMIM:619147 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heavy proteinuria, Nephrotic syndrome, Urinary glycosaminoglycan excretion, Proteinuria, Heparan ... |
ORPHA:505248 |
Familial Hypocalciuric Hypercalcemia |
|
Autoimmunity, Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
Martin-Probst Syndrome |
|
Chordee, Micropenis, Proteinuria, Renal insufficiency |
OMIM:300519 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Thickened glomerular ba... |
ORPHA:2614 |
Donnai-Barrow Syndrome |
|
Low-molecular-weight proteinuria, Non-acidotic proximal tubulopathy |
OMIM:222448 |
Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria,... |
OMIM:251300 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Dicarboxylic aciduria |
OMIM:201475 |
Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Renal t... |
ORPHA:358 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Hematuria, Urethral obstruction, Glomerulonephritis, Proteinuria, Abnormality... |
ORPHA:2035 |
Hemorrhagic Fever-Renal Syndrome |
|
Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular filtration rat... |
ORPHA:340 |
Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Stage 5 chronic k... |
OMIM:219800 |
Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria |
OMIM:607155 |
Hellp Syndrome |
|
Acute kidney injury, Hemoglobinuria, Proteinuria |
ORPHA:244242 |
Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Proteinuria |
OMIM:619377 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Nephritis, Renal cyst, Chronic kidney disease, Proteinuria, Renal insufficiency |
OMIM:208500 |
Melas |
|
Proximal tubulopathy, Focal segmental glomerulosclerosis, Proteinuria, Nephropathy |
ORPHA:550 |
Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
Granulomatosis With Polyangiitis |
|
Autoimmunity, Hydronephrosis, Hematuria, Ureteral stenosis, Glomerulopathy, Proteinuria, Renal in... |
ORPHA:900 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Mitochondrial Trifunctional Protein Deficiency |
|
Myoglobinuria |
OMIM:609015 |
Cockayne Syndrome Type 1 |
|
Proteinuria, Renal insufficiency |
ORPHA:90321 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Renal hypoplasia, Renal cyst, Reduced renal corticomedullary differentiation, Abnorm... |
OMIM:122470 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Renal Fanconi syndrome, Hemoglobinuria, Glycosuria, Acute kidney injury, Chronic kidney disease, ... |
ORPHA:447 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Urinary incontinence, Myoglobinuria, Proteinuria |
ORPHA:94093 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:761 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Hematuria, Acute kidney injury, Glomerulonephritis, Proteinuria |
ORPHA:90068 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria |
OMIM:616878 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:79240 |
Oculocerebrorenal Syndrome Of Lowe |
|
Nephrocalcinosis, Hematuria, Nephrolithiasis, Proximal renal tubular acidosis, Oligosacchariduria... |
ORPHA:534 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:370 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:264580 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... |
OMIM:614748 |
Fabry Disease |
|
Nephrotic syndrome, Hematuria, Abnormal renal tubule morphology, Nephropathy, Glomerulopathy, Pro... |
ORPHA:324 |
Familial Mediterranean Fever |
|
Proteinuria, Nephrotic syndrome, Nephropathy, Nephrocalcinosis |
ORPHA:342 |
Bardet-Biedl Syndrome 20 |
|
Micropenis, Proteinuria |
OMIM:619471 |
Lowe Oculocerebrorenal Syndrome |
|
Hyperphosphaturia, Renal Fanconi syndrome, Proximal renal tubular acidosis, Aminoaciduria, Protei... |
OMIM:309000 |
Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Proteinuria |
OMIM:311200 |
Holoprosencephaly |
|
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis |
ORPHA:2162 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Nephrolithiasis, P... |
ORPHA:79259 |
Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Myoglobinuria |
ORPHA:423 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,... |
ORPHA:91500 |
Pearson Syndrome |
|
Lacticaciduria, Renal cyst, Glycosuria, Proteinuria, Renal insufficiency |
ORPHA:699 |
Cockayne Syndrome |
|
Renal hypoplasia, Nephrotic syndrome, Abnormal renal physiology, Urinary incontinence, Unilateral... |
ORPHA:191 |
Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Hydronephrosis, Proteinuria, Renal insufficiency |
ORPHA:2750 |
Relapsing Polychondritis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:728 |
Cockayne Syndrome A |
|
Micropenis, Proteinuria, Renal insufficiency |
OMIM:216400 |
Cockayne Syndrome B |
|
Micropenis, Proteinuria, Renal insufficiency |
OMIM:133540 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria |
ORPHA:90038 |
Infection-Related Hemolytic Uremic Syndrome |
|
Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephrotic range proteinuria |
ORPHA:544482 |
Williams Syndrome |
|
Renal hypoplasia, Hypoplasia of penis, Urethral stenosis, Renovascular hypertension, Nephrocalcin... |
ORPHA:904 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria |
OMIM:619127 |
Gaucher Disease |
|
Hematuria, Proteinuria |
ORPHA:355 |
Kawasaki Disease |
|
Sterile pyuria, Proteinuria |
ORPHA:2331 |
Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria |
ORPHA:99827 |
Pmm2-Cdg |
|
Proteinuria, Abnormal renal tubule morphology, Multiple renal cysts, Nephrotic syndrome |
ORPHA:79318 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Decreased circulating antibody level |
OMIM:226300 |
Blood Group, Cromer System |
|
|
OMIM:613793 |