Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... |
OMIM:601894 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease |
OMIM:161900 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis |
OMIM:614196 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... |
ORPHA:54370 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Galactosemia I |
|
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria |
OMIM:230400 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... |
OMIM:614817 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria |
ORPHA:839 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... |
ORPHA:84090 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... |
OMIM:619155 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria |
ORPHA:220 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... |
OMIM:615244 |
Mucopolysaccharidosis, Type Iiib |
|
Hirsutism, Hyperactivity, Hepatomegaly, Splenomegaly, Coarse hair, Progressive neurologic deterio... |
OMIM:252920 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Renal ins... |
ORPHA:567544 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:608709 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria |
OMIM:105200 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Thick eyebrow, Hyperactivity, Self-injurious behavior, Long eyelashes, Aggress... |
OMIM:618362 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity |
OMIM:619970 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Dent Disease 2 |
|
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... |
OMIM:300555 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... |
ORPHA:656 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Microscopic he... |
ORPHA:567546 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci... |
OMIM:134600 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria |
OMIM:615605 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... |
ORPHA:94088 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Phenylketonuria |
|
Hyperactivity, Fair hair, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Agg... |
OMIM:261600 |
Xq25 Microduplication Syndrome |
|
Highly arched eyebrow, Hyperactivity, Anxiety, Sparse eyebrow |
ORPHA:521258 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Hepatomegaly |
OMIM:615924 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Alazami-Yuan Syndrome |
|
Hirsutism, Low anterior hairline, Thick eyebrow, Hyperactivity, Long eyelashes, Synophrys, Highly... |
OMIM:617126 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly |
OMIM:613576 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Frontal upsweep of hair, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:618913 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Al Amyloidosis |
|
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Proteinuria, ... |
ORPHA:85443 |
Fechtner syndrome |
|
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:153640 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617730 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior |
OMIM:239500 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Chromosome Xq25 Duplication Syndrome |
|
Thick eyebrow, Hyperactivity, Sparse eyebrow, Anxiety, Highly arched eyebrow |
OMIM:300979 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... |
ORPHA:567548 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Stage 5 chronic kidney disease, Hemolytic-ur... |
OMIM:612925 |
Danon Disease |
|
Myocardial fibrosis, Cognitive impairment, Myocardial necrosis, Dilated cardiomyopathy, Hypertrop... |
OMIM:300257 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:225 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... |
ORPHA:449395 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612926 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Acute kidney injury, Hematuria, Proteinuria |
ORPHA:54057 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... |
ORPHA:650 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hypospadias, Hydronephrosis, Renal cortical microcysts, Albuminuria |
OMIM:214100 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
Systemic Sclerosis |
|
Chronic kidney disease, Abnormality of the kidney, Renal insufficiency, Proteinuria, Acute kidney... |
ORPHA:90291 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria |
OMIM:215250 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, Nail-biting, Attention de... |
OMIM:619827 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy |
ORPHA:375 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612922 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... |
OMIM:619609 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... |
OMIM:256300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... |
ORPHA:85445 |
Preeclampsia |
|
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria |
ORPHA:275555 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
Frasier Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... |
ORPHA:347 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Cognitive impairment |
ORPHA:858 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... |
OMIM:300009 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... |
ORPHA:228302 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:1192 |
Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Attention defic... |
ORPHA:98818 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity, Synophrys |
OMIM:615541 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Long eyelashes, Hepatomegaly, Synophrys, Cardiomegaly |
OMIM:619064 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Glycosuria, Moderat... |
ORPHA:99885 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Mental deterioration, Cardiomegaly |
OMIM:619051 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Infantile Sialic Acid Storage Disease |
|
Fair hair, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria |
OMIM:618347 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis |
OMIM:616026 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
ORPHA:382 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Myh9-Related Disease |
|
Renal insufficiency, Nephropathy, Nephritis, Proteinuria |
ORPHA:182050 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... |
OMIM:617575 |
Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Vesicoureteral re... |
ORPHA:261222 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:618348 |
Mucopolysaccharidosis, Type Iiic |
|
Hypertrichosis, Hirsutism, Hyperactivity, Hepatomegaly, Splenomegaly, Coarse hair, Motor deterior... |
OMIM:252930 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Proteinuria, Nephrocalcinosis |
OMIM:613404 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... |
OMIM:308940 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Anxiety, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... |
OMIM:146255 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Proteinuria |
ORPHA:1765 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... |
ORPHA:63 |
Mucopolysaccharidosis, Type Iiia |
|
Hirsutism, Hyperactivity, Hepatomegaly, Splenomegaly, Coarse hair, Synophrys, Asymmetric septal h... |
OMIM:252900 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Atrial septal defect, Hyperactivity, Thick eyebrow, Anxiety, Nail-biting, Attention... |
ORPHA:485405 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Congenital, generalized hypertri... |
OMIM:239850 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Fragile X Syndrome |
|
Mitral valve prolapse, Hyperactivity, Self-biting |
OMIM:300624 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Proteinuria |
ORPHA:369 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Hypopigmentation of hair, Hyperactivity |
ORPHA:411515 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Subvalvular aortic stenosis, Aggressive behavior, Highly ... |
OMIM:600430 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce... |
ORPHA:368 |
Alport Syndrome 1, X-Linked |
|
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... |
OMIM:301050 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Tetralogy of Fallot, Self-biting, Ventricular septal defect, Aggressive behavior, ... |
ORPHA:3306 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis |
OMIM:619428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... |
OMIM:256550 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria |
OMIM:619269 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephritis, Stage 5 ... |
OMIM:614376 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Renal salt wasting |
OMIM:613845 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... |
ORPHA:93126 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Splenomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Low-molecular-weight proteinuri... |
OMIM:300554 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Hyperactivity, Atrial septal defect |
OMIM:619239 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior |
OMIM:612716 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly, Dementia |
OMIM:105210 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Aminoaciduria |
OMIM:603585 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria |
ORPHA:834 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine |
OMIM:171420 |
Cystinosis |
|
Renal tubular dysfunction, Aminoaciduria, Nephropathy, Proteinuria, Renal insufficiency |
ORPHA:213 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... |
ORPHA:436271 |
Renal Agenesis |
|
Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Glo... |
OMIM:607426 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epinephrine, Elevated urinary... |
ORPHA:276621 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pulmonic stenosis, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Heme Oxygenase 1 Deficiency |
|
Nephritis, Hematuria, Proteinuria |
OMIM:614034 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Glycosuria, Abnormal urine potass... |
ORPHA:411634 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:330001 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Hypertrichosis, Atrial septal defect, Aortic valve stenosis, Low anterior ... |
ORPHA:363705 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
Naxos Disease |
|
Woolly hair, Right ventricular cardiomyopathy, Sparse eyebrow, Abnormal morphology of right ventr... |
OMIM:601214 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... |
OMIM:220110 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Cantú Syndrome |
|
Generalized hirsutism, Low anterior hairline, Thick eyebrow, Curly eyelashes, Long eyelashes, Abn... |
ORPHA:1517 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Heavy prote... |
ORPHA:255249 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:91138 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Anxiety, Mitral valve prolapse, Attention deficit hyperac... |
ORPHA:449291 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Hepatomegaly, Progressive language deterioration, Self-mutilation, Mental deterior... |
ORPHA:163681 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulopathy, Low-mol... |
ORPHA:47159 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Myoglobinuria |
OMIM:231530 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... |
ORPHA:439232 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... |
ORPHA:324410 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... |
ORPHA:18 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Renal insufficiency, Proteinuria,... |
OMIM:277400 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Nephrotic syndrome, Nephritis, Abnormality of the urinary system, Hematuria, Proteinu... |
ORPHA:93552 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Oliguria, Acute kidney injury, Renal insufficiency, Exercise... |
ORPHA:99845 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology |
OMIM:274150 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Renal hypoplasia, Proteinuria |
ORPHA:1307 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Proteinuria, Elevated urinary epineph... |
ORPHA:29072 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Glycosuria, Proteinuria |
ORPHA:263455 |
Fabry Disease |
|
Renal insufficiency, Lipiduria, Urinary mulberry cells, Proteinuria |
OMIM:301500 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Micros... |
ORPHA:1830 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albuminuria |
OMIM:619525 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney |
ORPHA:251004 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:488627 |
Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Absent hair, Absent eyebrow, Absent eyelashes, Cardiomyopathy, Cardi... |
ORPHA:158687 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Cognitive impairment, Attention deficit hyperactivity disorder, Aggressive behavio... |
ORPHA:43 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... |
OMIM:137920 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:36412 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hirsutism, Generalized hirsutism, Hepatomegaly, Hyperactivity, ... |
ORPHA:581 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Apathy, Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
Glycogen Storage Disease Vii |
|
Exercise-induced myoglobinuria |
OMIM:232800 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Mogs-Cdg |
|
Hirsutism, Atrial septal defect, Hepatomegaly, Fair hair, Alopecia, Left ventricular hypertrophy,... |
ORPHA:79330 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... |
OMIM:306955 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Tubulointerstitial nephritis, Proteinuria,... |
ORPHA:33001 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:616897 |
Aicardi-Goutieres Syndrome 9 |
|
Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Thickened glomerular base... |
OMIM:619487 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2715 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5... |
OMIM:242900 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:86818 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Progressive language deterioration |
OMIM:610042 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Dysuria, Abnormal penis morphology, Hematuria, Moderate albuminuria, Acute kidney injury, Renal t... |
ORPHA:95455 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Enlarged kidney, Focal segmental glomerulos... |
OMIM:617303 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Abnormality of the kidney, Membranopro... |
ORPHA:91139 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Pheochromocytoma |
|
Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis |
OMIM:171300 |
Sandhoff Disease |
|
Hepatosplenomegaly, Progressive psychomotor deterioration, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Gaucher Disease, Perinatal Lethal |
|
Apathy, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Progressive neurologic deterioration, Car... |
OMIM:608013 |
Malakoplakia |
|
Dysuria, Urinary urgency, Hematuria, Urinary hesitancy, Proteinuria, Urinary bladder inflammation |
ORPHA:556 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
Galloway-Mowat Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:2065 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617729 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Self-mutilation, Nail dystrophy, Emotional lability |
OMIM:256800 |
Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
Legionnaires Disease |
|
Renal insufficiency, Hematuria, Proteinuria |
ORPHA:549 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Multiple bladder diverticula, Proteinuria |
ORPHA:2728 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal Fan... |
ORPHA:411629 |
Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Hyperactivity, Ventricular septal defect, Dextrocardia, Atten... |
OMIM:614294 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... |
OMIM:232200 |
Renal Nutcracker Syndrome |
|
Microscopic hematuria, Hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ... |
ORPHA:157 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Cystinosis, Nephropathic |
|
Nephrolithiasis, Medullary nephrocalcinosis, Aminoaciduria, Polyuria, Glycosuria, Hematuria, Low-... |
OMIM:219800 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria, Renal insufficiency, Glomerulopathy |
ORPHA:183 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
Glycogen Storage Disease Ic |
|
Decreased glomerular filtration rate, Hematuria, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:232240 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... |
ORPHA:228308 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis |
OMIM:161200 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
Glycogen Storage Disease Ib |
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Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... |
OMIM:232220 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
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Hypospadias, Mild proteinuria, Renal insufficiency |
OMIM:619147 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Donnai-Barrow Syndrome |
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Proteinuria, Non-acidotic proximal tubulopathy |
OMIM:222448 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... |
OMIM:602782 |
Martin-Probst Syndrome |
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Renal insufficiency, Chordee, Proteinuria, Micropenis |
OMIM:300519 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Nephrotic syndrome, Heparan sulfate excretion in urine, Enlarged kidney, Urinary glycosaminoglyca... |
ORPHA:505248 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Chronic kidney disease, Nephropathy, Hematuria, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:1018 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
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Mild proteinuria |
OMIM:619685 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Hirsutism, Low posterior hairline, Synophrys, Cardiomegaly |
ORPHA:2463 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Atrial septal defect, Thick eyebrow, Left ventricular hypertrophy, Mitral ... |
OMIM:245600 |
Maternal Phenylketonuria |
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Double outlet right ventricle, Hyperactivity, Hypoplastic left heart, Tetralogy of Fallot, Ventri... |
ORPHA:2209 |
Fucosidosis |
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Thick eyebrow, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Nail-Patella Syndrome |
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Nephrotic syndrome, Nephritis, Abnormality of the kidney, Hematuria, Thickened glomerular basemen... |
ORPHA:2614 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Wilson Disease |
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Renal tubular dysfunction, Nephrolithiasis, Aminoaciduria, Glycosuria, Hypercalciuria, Proteinuri... |
OMIM:277900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney |
OMIM:608836 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
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Nephroblastoma, Proteinuria |
OMIM:612469 |
Sickle Cell Anemia |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Galloway-Mowat Syndrome 1 |
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Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:251300 |
Legius Syndrome |
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Hyperactivity, Cognitive impairment, Pulmonic stenosis, Mitral valve prolapse, Attention deficit ... |
ORPHA:137605 |
Hemorrhagic Fever-Renal Syndrome |
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Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Olig... |
ORPHA:340 |
Congenital Disorder Of Glycosylation, Type Ia |
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Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopathy |
OMIM:212065 |
Lymphatic Filariasis |
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Nephrotic syndrome, Urethral obstruction, Abnormality of the kidney, Hematuria, Proteinuria, Glom... |
ORPHA:2035 |
Spondyloenchondrodysplasia |
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Chronic kidney disease, Hematuria, Proteinuria |
ORPHA:1855 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:308552 |
Microcephaly 29, Primary, Autosomal Recessive |
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Thick eyebrow, Hyperactivity, Emotional lability |
OMIM:620047 |
Congenital Disorder Of Glycosylation, Type It |
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Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:614921 |
Hellp Syndrome |
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Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
Gaucher Disease Type 1 |
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Hematuria, Proteinuria |
ORPHA:77259 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Exercise-induced myoglobinuria |
OMIM:607155 |
Developmental And Epileptic Encephalopathy 95 |
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Highly arched eyebrow, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Chronic kidney disease, Nephritis, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:208500 |
Osteootohepatoenteric Syndrome |
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Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hemoglobinuria |
OMIM:194380 |
Lysinuric Protein Intolerance |
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Argininuria, Oroticaciduria, Decreased glomerular filtration rate, Abnormal renal tubule morpholo... |
ORPHA:470 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly, Irritability |
OMIM:618278 |
Pure Mitochondrial Myopathy |
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Recurrent myoglobinuria |
ORPHA:254854 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Imerslund-Gräsbeck Syndrome |
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Proteinuria |
ORPHA:35858 |
Xfe Progeroid Syndrome |
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Renal insufficiency, Proteinuria |
OMIM:610965 |
Melas |
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Focal segmental glomerulosclerosis, Nephropathy, Proteinuria, Proximal tubulopathy |
ORPHA:550 |
Congenital Tracheomalacia |
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Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Paroxysmal Nocturnal Hemoglobinuria |
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Chronic kidney disease, Hemoglobinuria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Renal in... |
ORPHA:447 |
Absence Of The Pulmonary Artery |
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Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Sparse hair, Sparse eyebrow, Splenomegaly, Brittle hair, Enlarged kidney, Hypertrop... |
OMIM:252500 |
Agel Amyloidosis |
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Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Cockayne Syndrome Type 1 |
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Renal insufficiency, Proteinuria |
ORPHA:90321 |
Truncus Arteriosus |
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Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
Mitochondrial Trifunctional Protein Deficiency |
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Myoglobinuria |
OMIM:609015 |
Bohring-Opitz Syndrome |
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Abnormal cardiac septum morphology, Hypertrichosis, Happy demeanor, Synophrys, Cardiomegaly |
ORPHA:97297 |
Gitelman Syndrome |
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Renal tubular acidosis, Nocturia, Focal segmental glomerulosclerosis, Renal Fanconi syndrome, Tub... |
ORPHA:358 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Dicarboxylic aciduria, Myoglobinuria |
ORPHA:71212 |
Cornelia De Lange Syndrome 1 |
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Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Renal cys... |
OMIM:122470 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Hemoglobinuria |
OMIM:300908 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Argininemia |
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Hyperactivity, Hepatomegaly, Irritability |
OMIM:207800 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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