| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
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 |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria |
OMIM:620320 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections |
OMIM:618882 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Indolylacroyl Glycinuria With Impaired Intellectual Development |
|
Hyperglycinuria |
OMIM:243050 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
OMIM:242600 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:600995 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Decreased circulating IgG level, Cutaneous abscess, Recurrent otitis media, In... |
OMIM:618944 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:600546 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology |
ORPHA:839 |
| Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Death in infancy, Neonatal death, Short stature, Miscarriage |
OMIM:613390 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... |
ORPHA:84090 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Ar... |
ORPHA:411593 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement |
OMIM:617006 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine |
OMIM:230400 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... |
ORPHA:99885 |
| Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Short stature, Intrauterine growth retardation, Increased susceptibility to spontaneous sister ch... |
OMIM:618097 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:105200 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria |
OMIM:619269 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... |
OMIM:609054 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... |
ORPHA:567544 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Short stature, Chromosomal breakage induced by ionizing radiation, Growth delay |
OMIM:613078 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Growth delay |
OMIM:614082 |
| Immunodeficiency 54 |
|
Short stature, Chromosome breakage, Intrauterine growth retardation, Postnatal growth retardation |
OMIM:609981 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Lack of T cell func... |
ORPHA:277 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology |
OMIM:123550 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... |
ORPHA:85410 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:608709 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia |
OMIM:615605 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, 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 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... |
OMIM:618349 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency |
OMIM:245900 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... |
OMIM:603278 |
| N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2668 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis |
OMIM:619525 |
| Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... |
OMIM:615244 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... |
ORPHA:329918 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... |
ORPHA:567546 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Acquired Partial Lipodystrophy |
|
Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:79087 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:240500 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Ataxia-Telangiectasia |
|
Short stature, Abnormality of chromosome stability, Delayed puberty |
ORPHA:100 |
| Fanconi Anemia, Complementation Group D1 |
|
Short stature, Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... |
ORPHA:95455 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Autoimmunity, ... |
ORPHA:275 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato... |
ORPHA:98813 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis |
OMIM:618913 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Lymphocytic... |
OMIM:618495 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
| Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,... |
ORPHA:85443 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
| Radial-Renal Syndrome |
|
Short stature, Chromosome breakage |
OMIM:179280 |
| Fanconi Anemia, Complementation Group T |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... |
OMIM:612925 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal amyloidosis, Renal insufficiency |
OMIM:134610 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612924 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Failure to thrive, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Lack of T cell fu... |
ORPHA:572 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... |
ORPHA:650 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Steppage gait |
OMIM:302802 |
| Alpers-Huttenlocher Syndrome |
|
Spastic paraparesis, Paraparesis, Choreoathetosis, Ataxia |
ORPHA:726 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Cytoplasmic anti... |
ORPHA:449400 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Gait disturbance, Ataxia |
ORPHA:99014 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, Rh... |
ORPHA:85435 |
| Anti-Glomerular Basement Membrane Disease |
|
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency |
ORPHA:375 |
| Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency |
ORPHA:54057 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria |
OMIM:215250 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612926 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
| Bullous Pemphigoid |
|
Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Wei... |
ORPHA:703 |
| Fanconi Anemia, Complementation Group S |
|
Short stature, Chromosome breakage |
OMIM:617883 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts |
OMIM:214100 |
| Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... |
ORPHA:1652 |
| Systemic Sclerosis |
|
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis... |
ORPHA:90291 |
| Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... |
ORPHA:70578 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
| Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
| Fanconi Anemia, Complementation Group Q |
|
Short stature, Chromosome breakage, Growth delay |
OMIM:615272 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:616730 |
| Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... |
ORPHA:3261 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Intrauter... |
OMIM:210900 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Failure to thrive, Eczematoid dermatit... |
OMIM:243700 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... |
ORPHA:228302 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Difficulty walking, Dysmetria, Paraparesis, Gait disturbance |
OMIM:302800 |
| Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Abnormality of chromosome stability, Growth delay, Death in infancy |
OMIM:300514 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:166300 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Renal insufficiency, Proteinuria |
ORPHA:182050 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
| Fanconi Anemia, Complementation Group V |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Limb ataxia, Gait ataxia, Dysmetria, Paraparesis, Gait apraxia, Ataxia, Dysd... |
OMIM:615157 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria |
OMIM:616026 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
| Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... |
OMIM:256300 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... |
ORPHA:261222 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgE, Failure to thrive, Decreased circulat... |
OMIM:615758 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... |
OMIM:308940 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
| Reni Syndrome |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617575 |
| Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria |
OMIM:618347 |
| Lig4 Syndrome |
|
Abnormality of chromosome stability, Growth delay |
ORPHA:99812 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... |
ORPHA:3337 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis |
ORPHA:231445 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria |
OMIM:613404 |
| Icf Syndrome |
|
Short stature, Abnormality of chromosome stability |
ORPHA:2268 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Proteinuria, Hematuria |
ORPHA:1765 |
| Alport Syndrome |
|
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... |
ORPHA:63 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Pancreatitis, Choreoathetosis, Ataxia |
ORPHA:27 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... |
ORPHA:542323 |
| Fanconi Anemia, Complementation Group E |
|
Short stature, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dime... |
OMIM:600901 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... |
ORPHA:368 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Abnormality of the... |
ORPHA:275555 |
| Fanconi Anemia, Complementation Group A |
|
Short stature, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dime... |
OMIM:227650 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:619858 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Ataxia |
OMIM:612736 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Growth delay |
OMIM:617247 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney |
ORPHA:369 |
| Bone Marrow Failure Syndrome 3 |
|
Short stature, Chromosome breakage, Intrauterine growth retardation |
OMIM:617052 |
| Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Intrauterine growth retardation, Prolo... |
OMIM:227645 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
| Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents, Growth delay |
OMIM:617244 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Panhypogammagl... |
ORPHA:79124 |
| Fanconi Anemia, Complementation Group P |
|
Short stature, Chromosomal breakage induced by crosslinking agents, Growth delay |
OMIM:613951 |
| Neuraminidase Deficiency |
|
Proteinuria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosacch... |
OMIM:256550 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Inability to walk, Broad-based gait, Paraparesis, Ataxia |
OMIM:617854 |
| Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... |
ORPHA:3243 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias |
OMIM:619428 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis |
ORPHA:101005 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... |
OMIM:614376 |
| Adrenoleukodystrophy |
|
Hypogonadism, Limb ataxia, Paraparesis, Truncal ataxia, Impotence |
OMIM:300100 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis |
ORPHA:363558 |
| Fanconi-Bickel Syndrome |
|
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... |
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 |
| Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Intrauterine growth retardation, Chromosomal breakage induced by crosslinkin... |
OMIM:614083 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome |
ORPHA:834 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria |
ORPHA:213 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting |
OMIM:613845 |
| X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Paraparesis, Impotence, Progressive spastic paraparesis |
ORPHA:43 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... |
OMIM:248250 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... |
ORPHA:93126 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
ORPHA:436271 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... |
ORPHA:411634 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria |
OMIM:301108 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Tubulointerstitial nephritis |
OMIM:616901 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Autoimmunity, Psor... |
ORPHA:85436 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Autoimmunity, Decreased circulating antibody... |
ORPHA:227990 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:276621 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia |
ORPHA:275872 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... |
ORPHA:85450 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
OMIM:220110 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia |
ORPHA:140989 |
| Fanconi Anemia, Complementation Group D2 |
|
Short stature, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dime... |
OMIM:227646 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Autoimmunity, Decreased circulating antibody... |
ORPHA:227982 |
| Cartilage-Hair Hypoplasia |
|
Rhizomelia, Abnormality of chromosome stability, Disproportionate short-limb short stature |
ORPHA:175 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
| Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:91138 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... |
OMIM:607426 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... |
ORPHA:47159 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... |
ORPHA:93552 |
| Kufor-Rakeb Syndrome |
|
Akinesia, Paraparesis, Gait disturbance, Ataxia |
OMIM:606693 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis |
OMIM:105550 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria |
ORPHA:330001 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... |
ORPHA:439232 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology |
OMIM:274150 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... |
ORPHA:488627 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:29072 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... |
OMIM:254900 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Renal Fanconi syndrome, Glycosuria |
ORPHA:263455 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria |
ORPHA:57 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:36412 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration, Small for gestational age, Cholecystitis |
ORPHA:69665 |
| Fanconi Anemia |
|
Abnormality of chromosome stability, Intrauterine growth retardation, Azoospermia, Short stature,... |
ORPHA:84 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... |
ORPHA:1830 |
| Fabry Disease |
|
Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency |
OMIM:301500 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury |
OMIM:618886 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2715 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... |
ORPHA:33001 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Obesity, Paraparesis, Gait disturbance, Ataxia, Overweight |
ORPHA:2822 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome |
OMIM:301110 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
| Malakoplakia |
|
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency |
ORPHA:556 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... |
OMIM:277400 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
| Nijmegen Breakage Syndrome |
|
Short stature, Abnormality of chromosome stability |
ORPHA:647 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Inability to walk, Paraparesis, Gait ataxia |
OMIM:607483 |
| Riddle Syndrome |
|
Short stature, Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy |
ORPHA:86818 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... |
ORPHA:411629 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... |
OMIM:242900 |
| Majeed Syndrome |
|
Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:77297 |
| Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... |
OMIM:619487 |
| Rift Valley Fever |
|
Hepatitis, Skin rash, Infectious encephalitis, Paraparesis, Increased circulating IgG level, Incr... |
ORPHA:319251 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Proteinuria, Nephrotic syndrome, Renal tubular atr... |
OMIM:617303 |
| Legionnaires Disease |
|
Hematuria, Proteinuria, Renal insufficiency |
ORPHA:549 |
| Simple Cryoglobulinemia |
|
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Abnormality of the kidne... |
ORPHA:91139 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Paraparesis, Pancreatitis,... |
ORPHA:449427 |
| Renal Nutcracker Syndrome |
|
Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... |
OMIM:219800 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria |
OMIM:251900 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis |
ORPHA:183 |
| 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, Myoglobinuria, Renal tubular epithelial necrosis... |
ORPHA:157 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... |
ORPHA:228308 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration |
ORPHA:101096 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria |
ORPHA:1018 |
| Poliomyelitis |
|
Inability to walk, Myelitis, Paraparesis, Infectious encephalitis |
ORPHA:2912 |
| Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Paraparesis, Failure to thrive |
OMIM:620358 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome |
OMIM:161200 |
| Galloway-Mowat Syndrome 3 |
|
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... |
OMIM:617729 |
| Acute Transverse Myelitis |
|
Priapism, Systemic lupus erythematosus, Autoimmunity, Paraparesis, Gait disturbance, Abnormal libido |
ORPHA:139417 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Non-acidotic proximal tubulopathy |
OMIM:222448 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy proteinuria, Prote... |
ORPHA:505248 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... |
ORPHA:2614 |
| Martin-Probst Syndrome |
|
Proteinuria, Chordee, Renal insufficiency, Micropenis |
OMIM:300519 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria |
OMIM:619147 |
| Wagro Syndrome |
|
Proteinuria, Nephroblastoma |
OMIM:612469 |
| Hellp Syndrome |
|
Hemoglobinuria, Proteinuria, Acute kidney injury |
ORPHA:244242 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Nephrotic syndrome, Proximal tubulopathy, Renal cyst |
OMIM:212065 |
| Lymphatic Filariasis |
|
Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph... |
ORPHA:2035 |
| Farber Disease |
|
Paraparesis, Failure to thrive, Arthritis |
ORPHA:333 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Hematuria, Proteinuria |
ORPHA:1855 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... |
ORPHA:340 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232220 |
| Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, He... |
OMIM:232240 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... |
OMIM:251300 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Proteinuria |
OMIM:619377 |
| Lysinuric Protein Intolerance |
|
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio... |
ORPHA:470 |
| Xfe Progeroid Syndrome |
|
Proteinuria, Renal insufficiency |
OMIM:610965 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst |
OMIM:208500 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
| Arachnoid Cyst |
|
Inability to walk, Paraparesis, Gait disturbance |
ORPHA:2356 |
| Cockayne Syndrome Type 1 |
|
Proteinuria, Renal insufficiency |
ORPHA:90321 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria |
OMIM:609015 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... |
ORPHA:447 |
| Cornelia De Lange Syndrome 1 |
|
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... |
OMIM:122470 |
| Wilson Disease |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... |
OMIM:277900 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria |
OMIM:616878 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Proteinuria, Myoglobinuria, Acute kidney injury |
ORPHA:94093 |
| Adult-Onset Still Disease |
|
Proteinuria |
ORPHA:829 |
| Immunoglobulin A Vasculitis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:761 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
| Melas |
|
Nephropathy, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy |
ORPHA:550 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Enuresis, Renal tubular acidosis, Proteinuria, Decreased urin... |
ORPHA:358 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... |
ORPHA:534 |
| Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis |
OMIM:602080 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:79240 |
| Fabry Disease |
|
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... |
ORPHA:324 |
| Acquired Generalized Lipodystrophy |
|
Proteinuria |
ORPHA:79086 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:264580 |
| Cocaine Intoxication |
|
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis |
ORPHA:90068 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis |
OMIM:619471 |
| Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Uveitis |
OMIM:164200 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Myoglobinuria |
ORPHA:423 |
| Insulin-Resistance Syndrome Type B |
|
Proteinuria, Nephritis, Glycosuria |
ORPHA:2298 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re... |
ORPHA:91500 |
| Neurofibromatosis, Familial Spinal |
|
Paraparesis |
OMIM:162210 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... |
ORPHA:79259 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis |
ORPHA:900 |
| Cerebrotendinous Xanthomatosis |
|
Gait disturbance, Spastic paraparesis, Paraparesis, Ataxia |
ORPHA:909 |
| Holoprosencephaly |
|
Proteinuria, Hypoplasia of penis, Abnormality of the urinary system |
ORPHA:2162 |
| Pierson Syndrome |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:609049 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... |
OMIM:614748 |
| Cockayne Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Neurogenic bladder... |
ORPHA:191 |
| Familial Mediterranean Fever |
|
Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria |
ORPHA:342 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... |
OMIM:309000 |
| Pearson Syndrome |
|
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria |
ORPHA:699 |
| Orofaciodigital Syndrome Type 1 |
|
Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency |
ORPHA:2750 |
| Relapsing Polychondritis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:728 |
| Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Acute kidney injury, Anuria |
ORPHA:90038 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
| Cockayne Syndrome B |
|
Micropenis, Proteinuria, Renal insufficiency |
OMIM:133540 |
| Cockayne Syndrome A |
|
Micropenis, Proteinuria, Renal insufficiency |
OMIM:216400 |
| Postinfectious Vasculitis |
|
Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferative glomerulonephritis |
ORPHA:48435 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Anuria, Decreased urine output, Nephrotic range proteinuria |
ORPHA:544482 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
| Bilateral Perisylvian Polymicrogyria |
|
Paraparesis, Dysmetria |
ORPHA:98889 |
| Williams Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi... |
ORPHA:904 |
| Kawasaki Disease |
|
Proteinuria, Sterile pyuria |
ORPHA:2331 |
| 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 |
| Pmm2-Cdg |
|
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts |
ORPHA:79318 |
