| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
| Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Chromosome breakage, Miscarriage, Short stature, Cryptorchidism, Neonatal death |
OMIM:613390 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:600546 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Weight loss, Systemic lupus e... |
ORPHA:411593 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... |
ORPHA:99885 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchang... |
OMIM:618097 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Growth delay, Short stature, Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... |
OMIM:609054 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
OMIM:310465 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Fanconi Anemia, Complementation Group G |
|
Growth delay, Abnormality of chromosome stability |
OMIM:614082 |
| Immunodeficiency 54 |
|
Postnatal growth retardation, Intrauterine growth retardation, Chromosome breakage, Short stature |
OMIM:609981 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:608709 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
| Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
| Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Abnormal testis morphology, Short stature, Delayed puberty |
ORPHA:100 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
| Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Autoimmunity, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... |
OMIM:240500 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic ... |
ORPHA:275 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
| Fanconi Anemia, Complementation Group D1 |
|
Intrauterine growth retardation, Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE... |
ORPHA:98813 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Increased circulat... |
OMIM:618495 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
| Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... |
ORPHA:85443 |
| Radial-Renal Syndrome |
|
Chromosome breakage, Short stature |
OMIM:179280 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
| Fanconi Anemia, Complementation Group T |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
| Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu... |
ORPHA:572 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Steppage gait |
OMIM:302802 |
| Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
| Alpers-Huttenlocher Syndrome |
|
Choreoathetosis, Paraparesis, Ataxia, Spastic paraparesis |
ORPHA:726 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Gait disturbance |
ORPHA:99014 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
| Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... |
ORPHA:449400 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
| Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Short stature |
OMIM:617883 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... |
ORPHA:90291 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney |
ORPHA:275555 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
| Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Fanconi Anemia, Complementation Group Q |
|
Growth delay, Chromosome breakage, Short stature |
OMIM:615272 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Cryptorch... |
OMIM:210900 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
| Fanconi Anemia, Complementation Group V |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Tip-toe gait, Gait disturbance, Difficulty walking |
OMIM:302800 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Lig4 Syndrome |
|
Growth delay, Cryptorchidism, Abnormality of chromosome stability |
ORPHA:99812 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Fanconi Anemia, Complementation Group B |
|
Growth delay, Intrauterine growth retardation, Abnormality of chromosome stability, Death in infancy |
OMIM:300514 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
| Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
| Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
| Fanconi Anemia, Complementation Group E |
|
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... |
OMIM:600901 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Paraparesis, Gait apraxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Spast... |
OMIM:615157 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... |
ORPHA:261222 |
| Fanconi Anemia, Complementation Group A |
|
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... |
OMIM:227650 |
| Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Autoimmunity, Decreased circulating total IgM, Panniculitis, Dec... |
OMIM:615758 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
| Fanconi Anemia, Complementation Group P |
|
Growth delay, Cryptorchidism, Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
| Fanconi Anemia, Complementation Group C |
|
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... |
OMIM:227645 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
| Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... |
OMIM:617575 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy |
OMIM:613404 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Pso... |
ORPHA:37042 |
| Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Cryptorchidism, Short stature, Intrauterine growth retardation |
OMIM:617052 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
| Icf Syndrome |
|
Abnormality of chromosome stability, Short stature |
ORPHA:2268 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Paraparesis, Ataxia, Pancreatitis |
ORPHA:27 |
| Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis |
ORPHA:231445 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Ataxia |
OMIM:612736 |
| Fanconi Anemia, Complementation Group U |
|
Growth delay, Chromosome breakage |
OMIM:617247 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney |
ORPHA:369 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... |
ORPHA:3261 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Neuraminidase Deficiency |
|
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... |
OMIM:256550 |
| Fanconi Anemia, Complementation Group R |
|
Growth delay, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Inability to walk, Paraparesis, Broad-based gait, Ataxia |
OMIM:617854 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis |
ORPHA:101005 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Short stature, Chromosomal breakage induced by crosslinking agents, Intrauterine ... |
OMIM:603467 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy |
ORPHA:213 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria |
ORPHA:834 |
| Fanconi Anemia, Complementation Group L |
|
Growth delay, Intrauterine growth retardation, Chromosome breakage, Chromosomal breakage induced ... |
OMIM:614083 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys |
OMIM:613845 |
| Fanconi Anemia, Complementation Group D2 |
|
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... |
OMIM:227646 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
| Adrenoleukodystrophy |
|
Paraparesis, Limb ataxia, Impotence, Hypogonadism, Truncal ataxia |
OMIM:300100 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| X-Linked Adrenoleukodystrophy |
|
Paraparesis, Progressive spastic paraparesis, Gait disturbance, Impotence |
ORPHA:43 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Paraparesis, Chronic mucocutaneous candidiasis, Abnormal circulatin... |
ORPHA:79124 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... |
ORPHA:85436 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia |
ORPHA:275872 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria |
ORPHA:330001 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... |
ORPHA:85450 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimm... |
ORPHA:227990 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia |
ORPHA:140989 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimm... |
ORPHA:227982 |
| Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... |
OMIM:607426 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability, Rhizomelia, Disproportionate short-limb short stature |
ORPHA:175 |
| Kufor-Rakeb Syndrome |
|
Akinesia, Paraparesis, Ataxia, Gait disturbance |
OMIM:606693 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis |
OMIM:105550 |
| Revesz Syndrome |
|
Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:268130 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology |
OMIM:274150 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Proteinuria, Glycosuria |
ORPHA:263455 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
| Fanconi Anemia |
|
Abnormality of chromosome stability, Short stature, Cryptorchidism, Growth delay, Azoospermia, In... |
ORPHA:84 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
| Fabry Disease |
|
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria |
OMIM:301500 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
| Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:36412 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Overweight, Paraparesis, Inability to walk, Obesity, Gait disturbance |
ORPHA:2822 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... |
ORPHA:33001 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Inability to walk, Paraparesis, Gait ataxia |
OMIM:607483 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
| Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability, Short stature |
ORPHA:647 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
| Riddle Syndrome |
|
Short stature, Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
| Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:619487 |
| Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:242900 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr... |
OMIM:617303 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Paraparesis, Nephritis, Pancreatitis,... |
ORPHA:449427 |
| Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
| Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
| Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... |
OMIM:219800 |
| Rift Valley Fever |
|
Skin rash, Paraparesis, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulatin... |
ORPHA:319251 |
| Legionnaires Disease |
|
Hematuria, Renal insufficiency, Proteinuria |
ORPHA:549 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis |
ORPHA:183 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
| Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Paraparesis, Failure to thrive |
OMIM:620358 |
| Poliomyelitis |
|
Inability to walk, Paraparesis, Infectious encephalitis, Myelitis |
ORPHA:2912 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232200 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
| Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... |
OMIM:277900 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... |
ORPHA:505248 |
| Acute Transverse Myelitis |
|
Autoimmunity, Paraparesis, Systemic lupus erythematosus, Gait disturbance, Abnormal libido, Priapism |
ORPHA:139417 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria |
OMIM:619147 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Proteinuria |
ORPHA:247691 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Chordee, Proteinuria |
OMIM:300519 |
| Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
| Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
| Farber Disease |
|
Arthritis, Failure to thrive, Paraparesis |
ORPHA:333 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst |
OMIM:212065 |
| Spondyloenchondrodysplasia |
|
Hematuria, Chronic kidney disease, Proteinuria |
ORPHA:1855 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232220 |
| Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... |
ORPHA:340 |
| Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
| Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer... |
OMIM:232240 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria |
OMIM:610965 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
| Arachnoid Cyst |
|
Inability to walk, Paraparesis, Gait disturbance |
ORPHA:2356 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria |
OMIM:609015 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... |
ORPHA:447 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria |
ORPHA:90321 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria |
OMIM:616878 |
| Melas |
|
Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis |
ORPHA:550 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
| Neuroleptic Malignant Syndrome |
|
Myoglobinuria, Acute kidney injury, Proteinuria, Urinary incontinence |
ORPHA:94093 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu... |
ORPHA:358 |
| Immunoglobulin A Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:761 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:79240 |
| Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis |
OMIM:602080 |
| Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Nephropathy, Abn... |
ORPHA:324 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:264580 |
| Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury |
ORPHA:90068 |
| Acquired Generalized Lipodystrophy |
|
Proteinuria |
ORPHA:79086 |
| Bardet-Biedl Syndrome 20 |
|
Micropenis, Proteinuria |
OMIM:619471 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
| Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... |
ORPHA:91500 |
| Oculodentodigital Dysplasia |
|
Paraparesis, Ataxia, Uveitis |
OMIM:164200 |
| Insulin-Resistance Syndrome Type B |
|
Proteinuria, Nephritis, Glycosuria |
ORPHA:2298 |
| Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:342 |
| Neurofibromatosis, Familial Spinal |
|
Paraparesis |
OMIM:162210 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis |
ORPHA:900 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, ... |
ORPHA:79259 |
| Holoprosencephaly |
|
Hypoplasia of penis, Abnormality of the urinary system, Proteinuria |
ORPHA:2162 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
| Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria |
ORPHA:699 |
| Cerebrotendinous Xanthomatosis |
|
Paraparesis, Gait disturbance, Ataxia, Spastic paraparesis |
ORPHA:909 |
| Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
| Relapsing Polychondritis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:728 |
| Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Anuria, Acute kidney injury |
ORPHA:90038 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Cockayne Syndrome B |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:133540 |
| Cockayne Syndrome A |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:216400 |
| Postinfectious Vasculitis |
|
Hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis |
ORPHA:48435 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output |
ORPHA:544482 |
| Kawasaki Disease |
|
Proteinuria, Sterile pyuria |
ORPHA:2331 |
| Bilateral Perisylvian Polymicrogyria |
|
Paraparesis, Dysmetria |
ORPHA:98889 |
| Williams Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... |
ORPHA:904 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria |
OMIM:619127 |
| Gaucher Disease |
|
Hematuria, Proteinuria |
ORPHA:355 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria |
ORPHA:99827 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria |
OMIM:616682 |
| Split Cord Malformation |
|
Paraparesis |
ORPHA:573278 |
| Pmm2-Cdg |
|
Nephrotic syndrome, Proteinuria, Multiple renal cysts, Abnormal renal tubule morphology |
ORPHA:79318 |
