Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... |
OMIM:615008 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hyperprolinemia Type 1 |
|
Prolinuria, Proteinuria, Nephropathy |
ORPHA:419 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria |
ORPHA:2134 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... |
OMIM:137950 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis |
ORPHA:564178 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Chr... |
OMIM:248190 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Proteinuria, Renal insufficiency |
OMIM:245900 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Hemoglobinuria |
OMIM:266120 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactitol in urine, Albuminuria, Galactosuria, Hemolytic anemia |
OMIM:230400 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Ne... |
OMIM:617006 |
Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... |
OMIM:248250 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease |
OMIM:603278 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency |
OMIM:161900 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... |
ORPHA:405 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617609 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Megaloblastic anemia |
OMIM:261100 |
Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... |
OMIM:614131 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Anemia |
ORPHA:2668 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... |
ORPHA:18 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:615573 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... |
OMIM:612926 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy |
ORPHA:2820 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... |
ORPHA:54370 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... |
OMIM:153640 |
Idiopathic Hypercalciuria |
|
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis |
ORPHA:2197 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... |
OMIM:254900 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte concentration, Enuresis, R... |
ORPHA:199343 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Renal tubular dysfunction, Glycosuria, Abnormality of the upper urinary tra... |
ORPHA:99885 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypermagnesiuria |
ORPHA:34527 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria |
OMIM:105200 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... |
ORPHA:54057 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... |
ORPHA:84090 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... |
OMIM:610725 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... |
OMIM:611555 |
Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting |
OMIM:241519 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome |
OMIM:614196 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Anemia, Splenomegaly, Microscopic hematuria, Microcytic anemia, Membranopro... |
OMIM:619525 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... |
ORPHA:182050 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... |
OMIM:300908 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
Lcat Deficiency |
|
Hemolytic anemia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kid... |
ORPHA:650 |
Paroxysmal Cold Hemoglobinuria |
|
Coombs-positive hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic an... |
ORPHA:90035 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Lymphocytosis |
ORPHA:79087 |
Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome |
ORPHA:839 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... |
ORPHA:567544 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, Nephropathy |
ORPHA:100024 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:375 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:608709 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Chronic kidney disease, Anemia, Proteinuria, Hyperechogenic kidneys, Renal salt wasti... |
OMIM:613845 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Renal phosphate wasting, Nephrolithiasis |
OMIM:612286 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis, Exer... |
OMIM:232800 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... |
OMIM:618349 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypermagnesiuria, Hypercalci... |
ORPHA:73224 |
Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... |
OMIM:300555 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... |
OMIM:619155 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... |
OMIM:615244 |
Al Amyloidosis |
|
Nephrotic syndrome, Anemia, Renal interstitial amyloid deposits, Albuminuria, Howell-Jolly bodies... |
ORPHA:85443 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia, Renal insuf... |
ORPHA:713 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:1192 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Mucopolysacchariduria, Proteinuria, Nephrotic syndrome |
OMIM:215250 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Moderate albuminuria, Abnormal penis morphology, Neutropenia, Hematuria, Dysuria, Anemia, Acute k... |
ORPHA:95455 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency |
OMIM:613388 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Micropenis, Methemoglobinemia |
OMIM:250790 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Preeclampsia |
|
Acute kidney injury, Chronic kidney disease, Thrombocytopenia, Proteinuria, Abnormality of the ki... |
ORPHA:275555 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Gitelman Syndrome |
|
Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, Renal magnesium wasting |
OMIM:263800 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Megaloblastic anemia, Increased mean corpuscular volume, Methylmalonic aciduria |
OMIM:277410 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Increased red cell hemolysis by shear stress, Splenomegaly, Exercise-induced hemo... |
OMIM:194380 |
Autosomal Dominant Hypocalcemia |
|
Hypermagnesiuria, Hypercalciuria, Nephrocalcinosis |
ORPHA:428 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hyperphosphaturia, Renal phosphate wasting, Nephrolithiasis |
OMIM:612287 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... |
OMIM:134600 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... |
ORPHA:329918 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Hemolytic-uremic sy... |
OMIM:274150 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Asplenia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Proteinuria, He... |
OMIM:614034 |
Hereditary Renal Hypouricemia |
|
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... |
ORPHA:94088 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Sta... |
ORPHA:567546 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria |
OMIM:123550 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:616026 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... |
OMIM:300009 |
Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting |
OMIM:619406 |
Glycogen Storage Disease, Type Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Hemosiderinuria, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Hypernatriuria |
OMIM:103230 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Igg4-Related Kidney Disease |
|
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... |
ORPHA:449395 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Anemia, Acute kidney injury, Congenital thrombocytopenia, Proteinuria |
OMIM:618886 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... |
ORPHA:656 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:225 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal insufficiency, Renal amyloidosis |
OMIM:134610 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:618913 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... |
OMIM:607364 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... |
ORPHA:85450 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617731 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis |
OMIM:239199 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Aminoaciduria, Proteinuria |
OMIM:603585 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria |
OMIM:214100 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Aminoac... |
OMIM:220110 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Wilson Disease |
|
Hemolytic anemia, Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, G... |
OMIM:277900 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... |
OMIM:301050 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Aminoac... |
ORPHA:436271 |
Systemic Sclerosis |
|
Acute kidney injury, Albuminuria, Chronic kidney disease, Glomerulonephritis, Proteinuria, Renal ... |
ORPHA:90291 |
Nephronophthisis 13 |
|
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614377 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... |
ORPHA:85445 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Pancytopenia, Increased mean corpuscular volume, Hemolytic-uremic... |
ORPHA:2169 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Acute kidney injury, Myoglobinuria |
ORPHA:57 |
Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialylated oligosaccharides,... |
OMIM:256550 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Primary Fanconi Renotubular Syndrome |
|
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency, Hyperchlo... |
OMIM:613090 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal glom... |
ORPHA:567548 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... |
OMIM:617730 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:610205 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... |
OMIM:617575 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Sideroblastic anemia |
OMIM:255125 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... |
OMIM:602522 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... |
OMIM:104200 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Hematuria, Anemia, Thrombocytopenia, Proteinuria |
ORPHA:90060 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... |
OMIM:242900 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis |
OMIM:602722 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... |
OMIM:300554 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hyperphosphaturia |
ORPHA:89937 |
Diamond-Blackfan Anemia 7 |
|
Horseshoe kidney, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Vesicoureter... |
OMIM:612562 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Glomerular sclerosis, Anemia, Pancytopenia, Recurrent myoglobinuria |
OMIM:607426 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome |
OMIM:618347 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:228302 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomerulopathy, Prot... |
ORPHA:347 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting |
OMIM:614736 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Renal Fanconi syndrome, Hemoglobinuria, Pancytopenia, Leukopenia, Erythroid hyp... |
ORPHA:447 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnormality of the ki... |
ORPHA:261222 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Cystathioninuria, Methylmalonic aciduria, Hematuria, Homocystinuria, Hemolytic-uremi... |
OMIM:277400 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency, Elliptocytosis |
ORPHA:86818 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
Majeed Syndrome |
|
Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenomegaly, Microsc... |
ORPHA:77297 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Microangiopathic hemolytic anemia, Abnormality of the urinary system, Leukope... |
ORPHA:93552 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Proximal tubulopathy, Splenomegaly, Persistence of hemoglobi... |
ORPHA:231222 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Aminoaciduria, Anemia, Splenomegaly, Hypercalciuria, Polyuria |
OMIM:239200 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria |
OMIM:612780 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... |
OMIM:308940 |
Xfe Progeroid Syndrome |
|
Proteinuria, Renal insufficiency |
OMIM:610965 |
Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting |
OMIM:218330 |
Hypercalcemia, Infantile, 1 |
|
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis |
OMIM:143880 |
Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis |
ORPHA:99879 |
Fabry Disease |
|
Lipiduria, Urinary mulberry cells, Anemia, Proteinuria, Renal insufficiency |
OMIM:301500 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Proteinuria, Renal artery stenosis, Nephropathy |
OMIM:209010 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Micropenis, Hypercalciuria |
OMIM:614732 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... |
ORPHA:411634 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Proteinuria, Nephropathy |
ORPHA:1765 |
Blackfan-Diamond Anemia |
|
Hypospadias, Horseshoe kidney, Thrombocytosis, Renal agenesis, Neutropenia, Elevated red cell ade... |
ORPHA:124 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypocalciuria, Hypercalciuria, Nephrolithiasis |
OMIM:145980 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney |
ORPHA:369 |
Hellp Syndrome |
|
Hemoglobinuria, Microangiopathic hemolytic anemia, Acute kidney injury, Proteinuria, Thrombocytop... |
ORPHA:244242 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria |
OMIM:300539 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... |
OMIM:146255 |
Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Chronic kidney disease, Recurren... |
ORPHA:368 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting |
OMIM:610600 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:618348 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Nephrocalcinosis, Anemia, Phosphoethanolaminuria, Hypercalciuria |
OMIM:241500 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... |
ORPHA:1830 |
Gaucher Disease Type 1 |
|
Leukopenia, Hematuria, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia, Prote... |
ORPHA:77259 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Renal Nutcracker Syndrome |
|
Hematuria, Anemia, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... |
ORPHA:47159 |
Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting |
OMIM:203400 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... |
ORPHA:251004 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypospadias, Hypochromic microcytic anemia, Anemia, Mild proteinuria, Renal insufficiency |
OMIM:619147 |
Cryoglobulinemic Vasculitis |
|
Hematuria, Splenomegaly, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:91138 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting |
OMIM:193100 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... |
ORPHA:2260 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... |
OMIM:120330 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, Leuko... |
OMIM:617303 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Renal salt wasting |
OMIM:264350 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome, Splenomegaly |
ORPHA:834 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine |
OMIM:171420 |
Cystinosis |
|
Renal tubular dysfunction, Nephropathy, Aminoaciduria, Proteinuria, Renal insufficiency |
ORPHA:213 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Nephropathy |
ORPHA:2774 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria |
OMIM:601198 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Glomerulo... |
OMIM:614376 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:145981 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Glomerular sclerosis, Stage 5 chronic kidney disease, Anemia, Recurrent urinary... |
OMIM:619487 |
Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Renal agenesis, Proteinuria |
OMIM:191830 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Glycosuri... |
ORPHA:2088 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria |
OMIM:227810 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... |
ORPHA:93126 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Familial Hypoaldosteronism |
|
Renal salt wasting, Decreased urinary potassium, Proximal renal tubular acidosis |
ORPHA:427 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria |
ORPHA:157215 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:210550 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria |
OMIM:619428 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Renal insufficiency, Nephrocalcinosis |
ORPHA:320 |
Renal Agenesis |
|
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... |
ORPHA:411709 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... |
OMIM:141750 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary norepinephrine, E... |
ORPHA:276621 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Nephrocalcinosis, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancy... |
OMIM:260400 |
Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Splenomegaly, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:36412 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Bartter Syndrome, Type 1, Antenatal |
|
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... |
OMIM:601678 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Glomerulonephritis, Aplastic an... |
ORPHA:99867 |
Enamel-Renal Syndrome |
|
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... |
ORPHA:1031 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Polyuria, Hypercalciuria |
OMIM:300971 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Hypercalciuria, Renal tubular dysfunction |
OMIM:241530 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Glomerular sclerosis, Nephropathy, Proteinuria |
ORPHA:247691 |
Legionnaires Disease |
|
Hematuria, Splenomegaly, Lymphopenia, Proteinuria, Renal insufficiency |
ORPHA:549 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
Genetic Recurrent Myoglobinuria |
|
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... |
ORPHA:99845 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556037 |
Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Proteinuria, Anemia |
OMIM:619377 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia, Anuria, Acute ki... |
ORPHA:90038 |
16Q24.3 Microdeletion Syndrome |
|
Thrombocytopenia, Increased mean corpuscular volume |
ORPHA:261250 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria |
OMIM:613677 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Proteinuria, Renal insufficiency |
ORPHA:1307 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Proteinuria, Glycosuria |
ORPHA:263455 |
Simple Cryoglobulinemia |
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Chronic lymphatic leukemia, Nephrotic syndrome, Nephritis, Mesangial hypercellularity, Microscopi... |
ORPHA:91139 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Hypospadias, Reduced alpha/beta synthesis ratio, Renal agenesis, Hydronephrosis, Hypochromic micr... |
OMIM:301040 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Spondyloenchondrodysplasia |
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Pancytopenia, Hematuria, Autoimmune thrombocytopenia, Chronic kidney disease, Proteinuria, Autoim... |
ORPHA:1855 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Heavy proteinuria, Nephrotic syndrome, Leukopenia, Anemia, Hepatosplenomegaly, Urinary glycosamin... |
ORPHA:505248 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... |
ORPHA:488627 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Hydronephrosis, Abnormal hemoglobin, Anemia, Recurrent urinary tract infections, Hypoplasia of pe... |
ORPHA:847 |
Early-Onset Familial Hypoaldosteronism |
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Renal sodium wasting |
ORPHA:556030 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Gaucher Disease Type 3 |
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Hematuria, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Proteinuria |
ORPHA:77261 |
Glycogen Storage Disease Ib |
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Focal segmental glomerulosclerosis, Neutropenia, Decreased glomerular filtration rate, Nephrolith... |
OMIM:232220 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
Martin-Probst Syndrome |
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Chordee, Micropenis, Pancytopenia, Proteinuria, Renal insufficiency |
OMIM:300519 |
Bartter Syndrome, Type 2, Antenatal |
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Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... |
OMIM:241200 |
Lead Poisoning |
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Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Tubuloint... |
ORPHA:330015 |
Aapoaiv Amyloidosis |
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Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Chr... |
ORPHA:439232 |
Lymphedema-Distichiasis Syndrome |
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Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Glomerulopat... |
ORPHA:33001 |
Lysosomal Acid Lipase Deficiency |
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Vacuolated lymphocytes, Bone-marrow foam cells, Anemia, Hepatosplenomegaly, Hypersplenism, Abnorm... |
ORPHA:275761 |
Primary Hyperoxaluria |
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Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... |
ORPHA:416 |
Hereditary Pheochromocytoma-Paraganglioma |
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Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosis, Elevated uri... |
ORPHA:29072 |
Infantile Nephropathic Cystinosis |
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Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal tubulointerstitial... |
ORPHA:411629 |
Pierson Syndrome |
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Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:609049 |
Infantile Bartter Syndrome With Sensorineural Deafness |
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Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease, Hyperprostaglandinuria, St... |
ORPHA:89938 |
Eosinophilic Granulomatosis With Polyangiitis |
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Tubulointerstitial nephritis, Hematuria, Glomerulopathy, Eosinophilia, Proteinuria, Renal insuffi... |
ORPHA:183 |
Congenital Disorder Of Glycosylation, Type Ia |
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Thrombocytosis, Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Proteinuria |
OMIM:212065 |
Adrenal Hypoplasia, Congenital |
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Renal salt wasting |
OMIM:300200 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2715 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Hematuria, Proteinuria |
OMIM:192315 |
Acute Adrenal Insufficiency |
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Renal salt wasting, Normocytic anemia, Renal insufficiency, Decreased urinary potassium |
ORPHA:95409 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Renal hypoplasia, Renal cyst, Nephrolithiasis, Glycosuria, Stage 5 chronic kidney di... |
OMIM:137920 |
Hemorrhagic Fever-Renal Syndrome |
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Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular ... |
ORPHA:340 |
Gaisböck Syndrome |
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Nephrocalcinosis, Increased red blood cell count, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Oculoskeletodental Syndrome |
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Hypercalciuria, Renal agenesis, Mucopolysacchariduria, Splenomegaly |
OMIM:618440 |
Malakoplakia |
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Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria |
ORPHA:556 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Renal phosphate wasting, Renal tubular dysfunction |
OMIM:307800 |
Helix Syndrome |
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Hypocalciuria, Polyuria, Renal insufficiency, Nephrolithiasis |
OMIM:617671 |
Galloway-Mowat Syndrome |
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Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:2065 |
Lysinuric Protein Intolerance |
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Oroticaciduria, Tubulointerstitial nephritis, Leukopenia, Ornithinuria, Decreased glomerular filt... |
ORPHA:470 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Myoglobinuria, Renal tubular acidosis, Anemia, Splenomegaly, Abnormal erythrocyte enzyme level |
ORPHA:264580 |
Familial Glucocorticoid Deficiency |
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Renal salt wasting, Recurrent urinary tract infections, Hypernatriuria |
ORPHA:361 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Renal tubular acidosis, Myoglobinuria, Anemia, Splenomegaly |
ORPHA:79240 |
Pheochromocytoma |
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Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine |
OMIM:171300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
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Red-brown urine, Myoglobinuria |
ORPHA:228305 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Hypercalciuria, Ureteral stenosis, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Familial Hyperaldosteronism Type Iii |
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Hypercalciuria |
ORPHA:251274 |
Oncogenic Osteomalacia |
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Hyperphosphaturia, Renal phosphate wasting |
ORPHA:352540 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Renal tubular acidosis, Myoglobinuria, Abnormal erythrocyte enzyme level, Splenomegaly |
ORPHA:370 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Renal phosphate wasting |
OMIM:612089 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chr... |
ORPHA:157 |
Primary Unilateral Adrenal Hyperplasia |
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Increased urinary potassium |
ORPHA:231580 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis |
OMIM:156400 |
Lymphatic Filariasis |
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Nephrotic syndrome, Hematuria, Urethral obstruction, Hypereosinophilia, Glomerulonephritis, Prote... |
ORPHA:2035 |
Cockayne Syndrome Type 1 |
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Anemia, Proteinuria, Renal insufficiency |
ORPHA:90321 |
Glycogen Storage Disease Ia |
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Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
Neuroleptic Malignant Syndrome |
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Leukocytosis, Thrombocytosis, Myoglobinuria, Acute kidney injury, Urinary incontinence, Thrombocy... |
ORPHA:94093 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Renal salt wasting, Long penis, Increased urinary 11-deoxycorticosterone level |
ORPHA:90795 |
Galloway-Mowat Syndrome 3 |
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