| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Gilles De La Tourette Syndrome |
|
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... |
OMIM:137580 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... |
OMIM:620536 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Imerslund-Grasbeck Syndrome 2 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Moderate albuminuria |
OMIM:618882 |
| Nephrotic Syndrome, Type 16 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Nephrotic Syndrome, Type 20 |
|
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... |
OMIM:301028 |
| Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... |
OMIM:618178 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Focal Segmental Glomerulosclerosis 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:616032 |
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Attention deficit hyperactivity disorder, Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
| Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... |
OMIM:601894 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... |
OMIM:618176 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria |
OMIM:614199 |
| Focal Segmental Glomerulosclerosis 10 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... |
OMIM:256020 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... |
OMIM:137950 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... |
OMIM:616818 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Nephrotic Syndrome, Type 23 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... |
OMIM:619201 |
| Nail-Patella-Like Renal Disease |
|
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2613 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... |
OMIM:603965 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease |
OMIM:613944 |
| Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... |
OMIM:613237 |
| Hyperprolinemia, Type I |
|
Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency |
OMIM:607832 |
| Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:161900 |
| Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... |
OMIM:617609 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... |
OMIM:614131 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Elevated urinary indoleacetic acid level... |
OMIM:234500 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... |
OMIM:308990 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease |
OMIM:161950 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Nephrotic Syndrome, Type 9 |
|
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti... |
OMIM:615573 |
| Nephrotic Syndrome, Type 7 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... |
OMIM:615008 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... |
OMIM:310468 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Dysphagia, Impulsivity |
OMIM:620448 |
| Primary Membranoproliferative Glomerulonephritis |
|
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... |
ORPHA:54370 |
| Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:600995 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Aggressive behavior |
OMIM:605899 |
| Morm Syndrome |
|
Hyperactivity, Abnormality of the kidney, Micropenis, Aggressive behavior |
ORPHA:75858 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... |
OMIM:614650 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Abnormality of the upper urinary tract, Glycosuria, Moderate albuminuria, Ketonuria, Renal tubula... |
ORPHA:99885 |
| Galactosemia I |
|
Increased level of galactitol in urine, Albuminuria, Aminoaciduria, Galactosuria |
OMIM:230400 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Increased urinary disaccharide excretion, Aggressive behavior |
OMIM:248510 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... |
ORPHA:84090 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Nephrotic Syndrome, Type 6 |
|
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... |
OMIM:614196 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:610725 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria, Podocyte foot process effacement |
OMIM:617006 |
| Histidinemia |
|
Hyperactivity, Histidinuria |
ORPHA:2157 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... |
OMIM:614817 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria |
ORPHA:839 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... |
OMIM:611555 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... |
OMIM:613092 |
| Phenylketonuria |
|
Increased level of hippuric acid in urine, Hyperactivity, Elevated urinary phenylpyruvic acid lev... |
OMIM:261600 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria |
OMIM:619269 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Proteinuria, Nephropathy |
ORPHA:220 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
| Nephrotic Syndrome, Type 22 |
|
Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy... |
OMIM:619155 |
| Nephronophthisis 3 |
|
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... |
OMIM:604387 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... |
ORPHA:567544 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy |
OMIM:105200 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... |
ORPHA:976 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Polydipsia, Unilateral renal agenesis, Recurrent urinary tract ... |
ORPHA:93101 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Uraciluria, Elevated urinary dihydrothymine level |
OMIM:274270 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... |
OMIM:220150 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Nephrolithiasis, Attention deficit hyperactiv... |
OMIM:619827 |
| Nephronophthisis 13 |
|
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... |
OMIM:614377 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:608709 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Renal magnesium wasting, Self... |
OMIM:618314 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Oral-pharyngeal dysp... |
ORPHA:95455 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... |
OMIM:618349 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albuminuria |
OMIM:619525 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Self-injurious behavior, Increased level o... |
OMIM:271980 |
| Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria |
OMIM:615605 |
| Dent Disease 2 |
|
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Nephrocalcinosis, Chronic... |
OMIM:300555 |
| Hyperlysinemia, Type I |
|
Argininuria, Hyperactivity, Ornithinuria, Hyperlysinuria, Homocitrullinuria, Cystinuria |
OMIM:238700 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced renal corticomed... |
OMIM:603278 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Microscopic hematuria, Mac... |
ORPHA:567546 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
| C3 Glomerulopathy |
|
Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro... |
ORPHA:329918 |
| Frasier Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:136680 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
| Al Amyloidosis |
|
Renal interstitial amyloid deposits, Abnormality of the kidney, Nephrotic syndrome, Proteinuria, ... |
ORPHA:85443 |
| Fanconi Renotubular Syndrome 2 |
|
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... |
OMIM:613388 |
| Hereditary Renal Hypouricemia |
|
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... |
ORPHA:94088 |
| Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Glomerulopathy, Proteinuria |
ORPHA:79087 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
| Nephrotic Syndrome, Type 8 |
|
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Diffu... |
OMIM:615244 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
| Alport Syndrome 2, Autosomal Recessive |
|
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... |
OMIM:203780 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Abnormality of the kidney, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chronic kidney dis... |
ORPHA:261222 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... |
OMIM:613496 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:614455 |
| Fanconi Renotubular Syndrome 1 |
|
Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai... |
OMIM:134600 |
| Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Motor stereotypy, Paroxysmal... |
OMIM:618347 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Hydronephrosis, Motor stereotypy, Attention... |
OMIM:620141 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria |
OMIM:618913 |
| Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... |
OMIM:617731 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Renal cortical microcysts, Hydronephrosis, Dysphagia, Albuminuria, Aminoaciduria |
OMIM:214100 |
| Systemic Sclerosis |
|
Abnormality of the kidney, Acute kidney injury, Proteinuria, Albuminuria, Chronic kidney disease,... |
ORPHA:90291 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Chronic kidne... |
ORPHA:656 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... |
OMIM:301006 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Igg4-Related Kidney Disease |
|
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... |
ORPHA:449395 |
| Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Acute kidney injury, Renal insufficiency, Proteinuria |
ORPHA:54057 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:375 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria, Stage 5 chronic k... |
OMIM:612925 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Proteinuria, Stage 5 chronic kidney di... |
ORPHA:650 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria |
OMIM:612924 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Dent Disease |
|
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... |
ORPHA:1652 |
| Aa Amyloidosis |
|
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Nephrotic syndrome, Renal amyloi... |
ORPHA:85445 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria |
OMIM:612926 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Abnormal r... |
OMIM:308940 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:1192 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep... |
OMIM:104200 |
| Dent Disease 1 |
|
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... |
OMIM:300009 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dark urine, Dysphag... |
ORPHA:368 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... |
ORPHA:567548 |
| Alagille Syndrome 2 |
|
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency |
OMIM:610205 |
| Nephrotic Syndrome, Type 11 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... |
OMIM:616730 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Cystinosis |
|
Polydipsia, Nephropathy, Proteinuria, Motor stereotypy, Renal insufficiency, Aminoaciduria, Renal... |
ORPHA:213 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy |
OMIM:166300 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease... |
ORPHA:228302 |
| Alport Syndrome |
|
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... |
ORPHA:63 |
| Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... |
OMIM:617730 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Motor stereotypy, Glomerulone... |
OMIM:619428 |
| Myh9-Related Disease |
|
Nephritis, Nephropathy, Proteinuria, Renal insufficiency |
ORPHA:182050 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... |
OMIM:619609 |
| Renal Hypoplasia, Bilateral |
|
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... |
ORPHA:97362 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Hyperactivity, Urinary hesitancy, Urinary urgency, Nocturia |
OMIM:609727 |
| Nephrotic Syndrome, Type 1 |
|
Glomerular sclerosis, Congenital nephrotic syndrome, Renal tubular atrophy, Proteinuria, Diffuse ... |
OMIM:256300 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Aminoaciduria |
OMIM:616026 |
| Oligomeganephronia |
|
Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a... |
ORPHA:2260 |
| Frasier Syndrome |
|
Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto... |
ORPHA:347 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Renal artery stenosis, Proteinuria, Nephropathy |
OMIM:209010 |
| Reni Syndrome |
|
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Diffuse... |
OMIM:617575 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Glycosuria, Nephrocalcinosis, Proteinuria, Nephropathy, Aminoaciduria |
OMIM:613404 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
| Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R... |
ORPHA:3337 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hematuria, Unilateral renal dysplasia, Nephrotic syndrome, Thickened glomerular basement membrane... |
OMIM:146255 |
| Alport Syndrome 1, X-Linked |
|
Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Pro... |
OMIM:301050 |
| Preeclampsia |
|
Abnormality of the kidney, Acute kidney injury, Proteinuria, Chronic kidney disease, Renal insuff... |
ORPHA:275555 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Proteinuria, Nephropathy |
ORPHA:1765 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Proteinuria |
ORPHA:369 |
| Juvenile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Polydipsia, Renal phosphate wasting, Proximal tubulopathy, Micr... |
ORPHA:411634 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Dysphagia, Chronic kidney ... |
ORPHA:488627 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
| Wagro Syndrome |
|
Agitation, Compulsive behaviors, Polyphagia, Proteinuria, Nephroblastoma, Aggressive behavior |
OMIM:612469 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Galloway-Mowat Syndrome 7 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... |
OMIM:618348 |
| Hypomagnesemia 3, Renal |
|
Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuri... |
OMIM:248250 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... |
OMIM:256550 |
| Distal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Polydipsia, Hypocitraturia, Decreased glomerular filtration rat... |
ORPHA:18 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Papillorenal Syndrome |
|
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... |
OMIM:120330 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Glomerular sclerosis, Recurrent myoglobinuria, Focal segmental glomerulosclerosis, Nephrotic synd... |
OMIM:607426 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614376 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... |
OMIM:300554 |
| Proximal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Polydipsia, Hyperc... |
ORPHA:47159 |
| Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
| Fanconi-Bickel Syndrome |
|
Generalized aminoaciduria, Renal tubular dysfunction, Hypercalciuria, Beta 2-microglobulinuria, H... |
OMIM:227810 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria |
ORPHA:834 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,... |
OMIM:254900 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Renal Fanconi syndrome, Agitation, Proteinuria |
ORPHA:263455 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Polyuria, Hyperechogenic kidneys, Proteinuria, Chronic kidney disease |
OMIM:613845 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... |
ORPHA:436271 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Nephrotic range ... |
ORPHA:93126 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine level, Proteinuria |
OMIM:171420 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Tubulointerstitial nephritis |
OMIM:616901 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... |
ORPHA:276621 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal interstitial amyloid deposits, Decreased glomerular filtration rate, Tubulointerstitial fib... |
ORPHA:85450 |
| Renal Agenesis |
|
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... |
ORPHA:411709 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Nephrotic syndrome, Mild proteinuria, Focal segmental glomerulosclerosis |
OMIM:301108 |
| Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Bilateral renal agenesis, Proteinuria |
OMIM:191830 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Hematuria, Proteinuria |
OMIM:614034 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Polyphagia, Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulon... |
ORPHA:251004 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... |
OMIM:220110 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
| Pediatric Systemic Lupus Erythematosus |
|
Hematuria, Abnormality of the urinary system, Nephrotic syndrome, Nephritis, Dark urine, Proteinu... |
ORPHA:93552 |
| Infantile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Polydipsia, Glycosuria, Hyperphosphaturia, Renal Fanconi syndro... |
ORPHA:411629 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency |
ORPHA:330001 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Legionnaires Disease |
|
Hematuria, Renal insufficiency, Proteinuria, Anorexia |
ORPHA:549 |
| Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... |
ORPHA:439232 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... |
ORPHA:29072 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:36412 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Nephrotic range proteinuria, Focal segmental glomerulosclerosi... |
ORPHA:1830 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology |
OMIM:274150 |
| Aicardi-Goutieres Syndrome 9 |
|
Glomerular sclerosis, Recurrent urinary tract infections, Thickened glomerular basement membrane,... |
OMIM:619487 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| Fabry Disease |
|
Urinary mulberry cells, Proteinuria, Lipiduria, Renal insufficiency |
OMIM:301500 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Proteinuria |
ORPHA:1307 |
| Cystinosis, Nephropathic |
|
Low-molecular-weight proteinuria, Polyuria, Polydipsia, Hematuria, Generalized aminoaciduria, Med... |
OMIM:219800 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Hematuria, Proteinuria, Dysphagia, Renal insufficiency, Tubulointerstitial nephritis |
ORPHA:183 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Tubulointerst... |
ORPHA:33001 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Hematuria, Proteinuria, Dysphagia, Chronic kidney disease, Stage 5 chronic kidney disease, Nephro... |
ORPHA:1018 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathioninuria, Neph... |
OMIM:277400 |
| Arima Syndrome |
|
Polydipsia, Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney... |
OMIM:243910 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Moderate proteinuria, Hemolytic-uremic syndrome, Proteinuria, Hyperechogenic kidneys |
OMIM:301110 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Malakoplakia |
|
Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Urinary bladder inflammation |
ORPHA:556 |
| Galloway-Mowat Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:2065 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... |
OMIM:137920 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:242900 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
| Pheochromocytoma |
|
Elevated urinary norepinephrine level, Renal artery stenosis, Proteinuria |
OMIM:171300 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, N... |
OMIM:617303 |
| Majeed Syndrome |
|
Microscopic hematuria, Glomerulopathy, Proteinuria |
ORPHA:77297 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Simple Cryoglobulinemia |
|
Abnormality of the kidney, Nephrotic syndrome, Microscopic hematuria, Nephritis, Proteinuria, Mes... |
ORPHA:91139 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:86818 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
| Renal Nutcracker Syndrome |
|
Hematuria, Renal artery stenosis, Proteinuria, Microscopic hematuria |
ORPHA:71273 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, T... |
ORPHA:157 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... |
ORPHA:228308 |
| Hemorrhagic Fever-Renal Syndrome |
|
Acute kidney injury, Agitation, Hematuria, Decreased glomerular filtration rate, Acute tubulointe... |
ORPHA:340 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Multiple bladder diverticula, Proteinuria |
ORPHA:2728 |
| Nail-Patella Syndrome |
|
Hematuria, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis |
OMIM:161200 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Decreased glomerular filtration rate, Nephrolithiasis, Focal segmental glomerulo... |
OMIM:232200 |
| Galloway-Mowat Syndrome 3 |
|
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chron... |
OMIM:617729 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
| Immunoglobulin A Vasculitis |
|
Anorexia, Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:761 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Agitation, Urinary incontinence, Myoglobinuria, Proteinuria, Dysphagia |
ORPHA:94093 |
| Lysinuric Protein Intolerance |
|
Abnormal renal tubule morphology, Argininuria, Oroticaciduria, Decreased glomerular filtration ra... |
ORPHA:470 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Nephrotic syndrome, Proteinuria, Heavy proteinuria, Urinary glycosaminoglycan ex... |
ORPHA:505248 |
| Nail-Patella Syndrome |
|
Abnormality of the kidney, Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane,... |
ORPHA:2614 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Acute kidney injury, Hemosiderinuria, Glycosuria, Hemoglobinuria, Proteinuria, Chronic kidney dis... |
ORPHA:447 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercalciuria, Nephrolithiasis, Com... |
ORPHA:534 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
| Martin-Probst Syndrome |
|
Chordee, Micropenis, Proteinuria, Renal insufficiency |
OMIM:300519 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst |
OMIM:212065 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Oral-pharyngeal dysphagia, Ketonuria |
OMIM:616878 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Mild proteinuria, Renal insufficiency |
OMIM:619147 |
| Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ... |
OMIM:122470 |
| Hellp Syndrome |
|
Acute kidney injury, Proteinuria, Hemoglobinuria |
ORPHA:244242 |
| Gitelman Syndrome |
|
Polydipsia, Urinary incontinence, Renal tubular acidosis, Renal potassium wasting, Focal segmenta... |
ORPHA:358 |
| Spondyloenchondrodysplasia |
|
Hematuria, Proteinuria, Chronic kidney disease |
ORPHA:1855 |
| Lymphatic Filariasis |
|
Abnormality of the kidney, Hematuria, Urethral obstruction, Nephrotic syndrome, Proteinuria, Glom... |
ORPHA:2035 |
| Wilson Disease |
|
Increased urinary copper concentration, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Glyco... |
OMIM:277900 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Decreased glomerular filtration rate, Nephrolithiasis, Focal segmental glomerulo... |
OMIM:232220 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:251300 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Proteinuria |
OMIM:619377 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria |
OMIM:610965 |
| Glycogen Storage Disease Ic |
|
Hematuria, Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:232240 |
| Fabry Disease |
|
Abnormal renal tubule morphology, Anorexia, Glomerulopathy, Hematuria, Nephropathy, Nephrotic syn... |
ORPHA:324 |
| Cocaine Intoxication |
|
Acute kidney injury, Agitation, Hematuria, Proteinuria, Tubulointerstitial nephritis, Glomerulone... |
ORPHA:90068 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria |
ORPHA:90321 |
| Lowe Oculocerebrorenal Syndrome |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Hyperphosphaturia, Renal Fanconi syndrome, Prox... |
OMIM:309000 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency |
OMIM:208500 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria |
OMIM:609015 |
| Agel Amyloidosis |
|
Stage 5 chronic kidney disease, Proteinuria |
ORPHA:85448 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anorexia, Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edem... |
ORPHA:91500 |
| Adult-Onset Still Disease |
|
Proteinuria |
ORPHA:829 |
| Melas |
|
Proximal tubulopathy, Nephropathy, Proteinuria, Focal segmental glomerulosclerosis |
ORPHA:550 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:79240 |
| Systemic Lupus Erythematosus |
|
Anorexia, Hematuria, Pyuria, Proteinuria, Lupus nephritis |
ORPHA:536 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:264580 |
| Acquired Generalized Lipodystrophy |
|
Proteinuria |
ORPHA:79086 |
| Pearson Syndrome |
|
Renal cyst, Glycosuria, Proteinuria, Dysphagia, Renal insufficiency, Lacticaciduria |
ORPHA:699 |
| Bardet-Biedl Syndrome 20 |
|
Micropenis, Proteinuria |
OMIM:619471 |
| Insulin-Resistance Syndrome Type B |
|
Glycosuria, Nephritis, Proteinuria |
ORPHA:2298 |
| Postinfectious Vasculitis |
|
Anorexia, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Glomerulonephritis |
ORPHA:48435 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Cylindruria, Proteinuria, Macroscopic hematuria, Renal insufficien... |
OMIM:233450 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enlarged kidney, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Proteinuria, Sta... |
ORPHA:79259 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Hematuria, Ureteral stenosis, Hydronephrosis, Proteinuria, Renal insufficiency |
ORPHA:900 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis |
ORPHA:2162 |
| Cockayne Syndrome |
|
Urinary incontinence, Unilateral renal agenesis, Neurogenic bladder, Nephrotic syndrome, Renal hy... |
ORPHA:191 |
| Pierson Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kidneys, Stage 5 chr... |
OMIM:609049 |
| Familial Mediterranean Fever |
|
Nephrotic syndrome, Nephrocalcinosis, Nephropathy, Proteinuria |
ORPHA:342 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... |
OMIM:614748 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Williams Syndrome |
|
Hypoplasia of penis, Hypercalciuria, Recurrent urinary tract infections, Pelvic kidney, Abnormali... |
ORPHA:904 |
| Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
| Orofaciodigital Syndrome Type 1 |
|
Hydronephrosis, Multicystic kidney dysplasia, Proteinuria, Renal insufficiency |
ORPHA:2750 |
| Relapsing Polychondritis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:728 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Hemoglobinuria |
ORPHA:90038 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Proteinuria |
OMIM:311200 |
| Cockayne Syndrome B |
|
Micropenis, Proteinuria, Renal insufficiency |
OMIM:133540 |
| Cockayne Syndrome A |
|
Micropenis, Proteinuria, Renal insufficiency |
OMIM:216400 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Motor stereotypy |
OMIM:616682 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Nephrotic range proteinuria, Oliguria, Decreased urine output |
ORPHA:544482 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
| Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Agitation, Hematuria, Proteinuria |
ORPHA:99827 |
| Gaucher Disease |
|
Hematuria, Proteinuria, Dysphagia |
ORPHA:355 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Focal segmental glomerulosclerosis |
OMIM:619127 |
| Kawasaki Disease |
|
Sterile pyuria, Proteinuria |
ORPHA:2331 |
| Pmm2-Cdg |
|
Nephrotic syndrome, Proteinuria, Multiple renal cysts, Abnormal renal tubule morphology |
ORPHA:79318 |
