Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Clinodactyly of the 5th finger, Nephropathy, Severe short stature, Proteinuria |
ORPHA:2820 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Short stature, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia... |
OMIM:611555 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Galactosemia I |
|
Hemolytic anemia, Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urin... |
OMIM:230400 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Proteinuria, Thrombocytopenia |
OMIM:189800 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria |
ORPHA:2613 |
Nephrotic Syndrome, Type 17 |
|
Short stature, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... |
OMIM:618176 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:619269 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Arachnodactyly, Short stature, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic ki... |
OMIM:301006 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... |
ORPHA:275555 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Short stature, Minim... |
ORPHA:1830 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Metaphyseal w... |
OMIM:608940 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Proteinuria, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... |
OMIM:618347 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Rocker bottom foot, Metatarsus adductus, Wide anterior fontanel, Epiphyseal stipplin... |
OMIM:214100 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Bowing of the legs, Growth delay, Aminoaciduria, Glycosuria, Lo... |
OMIM:615605 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Al Amyloidosis |
|
Renal insufficiency, Howell-Jolly bodies, Abnormality of the kidney, Proteinuria, Renal interstit... |
ORPHA:85443 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Thoracic kyphosis, Lateral displacement of the femoral head, Neutrope... |
OMIM:242900 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Cachexia, Slender long bone, Metacarpal osteolysis, Abnorma... |
ORPHA:2774 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Proteinuria, Hyperlordosis, Nephrotic syndrome, Nephropathy, Anemia |
ORPHA:1192 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Growth d... |
OMIM:619858 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Proteinuria, Short iliac bones, Glomerulonephritis, Metaphyseal wideni... |
OMIM:614376 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Proteinuria, Ulnar bowing, Nephropathy, Hematuria, Mesomelic short ... |
ORPHA:1765 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Proteinuria, Short stature, Abnormal T cell morphology, Nephrotic synd... |
OMIM:215250 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia |
ORPHA:100024 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Hammertoe, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Abnormality of the kidney, Renal agenesis, Proteinuria, Kyphosis, Chronic kidney ... |
ORPHA:261222 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Short stature, Proteinuria, Bone-marrow foam ce... |
OMIM:256550 |
Dent Disease |
|
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... |
ORPHA:1652 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Renal insufficiency, Short stature, Bowing of the legs, Delayed epiphyseal oss... |
OMIM:300554 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Lymphocytosis |
ORPHA:79087 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Renal insufficiency, Proteinuria, Abnormality o... |
ORPHA:90291 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Short stature, Kyphoscoliosis, Minima... |
OMIM:618348 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Osteolysis involving tarsal bon... |
OMIM:166300 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Lumbar hyperlordosis, Postnatal growth retardation, Kyphosis, Hypoplastic iliac wing, Disproporti... |
OMIM:313400 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Short stature, Proteinuria |
OMIM:620010 |
Renal Hypoplasia, Bilateral |
|
Short stature, Small for gestational age, Microscopic hematuria, Proteinuria, Chronic kidney dise... |
ORPHA:97362 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Renal insufficiency, Proteinuria |
OMIM:245900 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Eosinophilia, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Cednik Syndrome |
|
Nephrotic syndrome, Short stature, Proteinuria |
ORPHA:66631 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Short stature, Abnormality of the kidney, Proteinuria, Growth delay, Delayed puberty, Failure to ... |
ORPHA:369 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Anemia |
ORPHA:169079 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Weight loss, Renal tubul... |
ORPHA:99885 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Cachexia, Congenital hypoplastic anemia, Microscopic hematuria, Sple... |
ORPHA:77297 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
Immunodeficiency 76 |
|
Splenomegaly, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... |
OMIM:613496 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Short stature, Proteinuria, Tapered f... |
OMIM:617730 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Hip dysplasia, Aminoaciduria, Glycosuria, ... |
OMIM:613404 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... |
OMIM:618987 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Clinodactyly, Thrombocytopenia |
OMIM:603585 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Part... |
OMIM:616730 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:608709 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Aminoaciduria, Glycosuria, Tubulointers... |
OMIM:618913 |
Dent Disease 2 |
|
Short stature, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal ... |
OMIM:300555 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria, Megaloblastic anemia |
OMIM:261100 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Short stature, Abnormal morphology of ulna,... |
ORPHA:1307 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Thorac... |
OMIM:223800 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Renal h... |
OMIM:614377 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... |
OMIM:613845 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Short stature, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal... |
OMIM:613388 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th... |
OMIM:102700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Failure to thrive, Decreased proportion... |
OMIM:618048 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... |
OMIM:618150 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia |
ORPHA:375 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... |
OMIM:256300 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Short stature, Proteinuria, Aut... |
ORPHA:1855 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Nail-Patella Syndrome |
|
Renal insufficiency, Lumbar hyperlordosis, Short stature, Glenoid fossa hypoplasia, Proteinuria, ... |
OMIM:161200 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Proteinuria, Glomerulonephritis, Hip dislocation, Growth delay, Nephrotic syndrome, ... |
OMIM:619428 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Microscopic hematuria, Chronic kidney disease, Abnormal urine p... |
ORPHA:411634 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Short stature, Proteinuria, Chronic kidney disease, ... |
OMIM:208500 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Overlapping fingers, T lymphocytopenia, B lymphocytopenia, Intrauterine growth retardation, Micro... |
OMIM:615966 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Stage 5 chronic kidney disease, Podocyt... |
OMIM:619609 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Cystinosis |
|
Renal insufficiency, Short stature, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Delaye... |
ORPHA:213 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... |
OMIM:612925 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Splenomegaly, Metaphyseal widening, Clubbing, Enlarged kidney, Anemia, Leukopenia, F... |
OMIM:617303 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Proteinuria, Asplenia, Growth delay, Hematuria, Coombs-positive hemolytic anemi... |
OMIM:614034 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Nephrotic syndrome, Failure to thrive in infancy, Proteinuria |
ORPHA:834 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Sandal gap, Short stature, Proteinuria, Scoliosis |
ORPHA:2715 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac... |
OMIM:617575 |
Gaucher Disease Type 1 |
|
Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Kyphosis, Growth delay,... |
ORPHA:77259 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Anemia |
ORPHA:2668 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Short stature, Large for gestational age, Nephrocalcinosis, Amino... |
OMIM:616026 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612926 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Hypercalciuria, Generali... |
OMIM:227810 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612924 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Splenomegaly,... |
OMIM:619525 |
Ddost-Cdg |
|
Failure to thrive, Short stature, Nephrotic range proteinuria |
ORPHA:300536 |
Lcat Deficiency |
|
Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ... |
ORPHA:650 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Thickened... |
OMIM:619487 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Proteinuria |
ORPHA:2143 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... |
OMIM:120330 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitia... |
ORPHA:488627 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Chronic lymphatic leukemia, Growth delay, Increased proportion of tr... |
OMIM:616005 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Weight loss, Anemia, Hematuria, Thrombocytopenia |
ORPHA:90060 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Galloway-Mowat Syndrome |
|
Short stature, Camptodactyly of finger, Proteinuria, Nephropathy, Nephrotic syndrome, Intrauterin... |
ORPHA:2065 |
Nail-Patella Syndrome |
|
Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Abnormality of the kidney, Contracture of... |
ORPHA:2614 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Sh... |
OMIM:219800 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Grade II vesicoureteral reflux,... |
OMIM:619377 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Weight loss, Hep... |
ORPHA:85450 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Small for gestational age, Hypochromic microcytic anemia, Growth delay, Mild... |
OMIM:619147 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Leukopenia, Nephrotic syndrome, Abnormal... |
ORPHA:93552 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Lung abscess, Radial bowing, B lymphocytopenia, Reduced natural killer ce... |
OMIM:241600 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Short stature, Proteinuria, Macroscopic hematuria, Obes... |
ORPHA:251004 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, ... |
ORPHA:18 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Short stature, Proteinuria, Hip dislocation, Stage 5... |
OMIM:617729 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Microscopic hematuria... |
OMIM:308940 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Elliptocytosis, Abnormal metaph... |
ORPHA:86818 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, B lymphocytopenia |
OMIM:619851 |
Ohdo Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Proteinuria |
OMIM:249620 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Short stature, Thrombocytopenia, Reticulocytopenia, Rhizomelic a... |
ORPHA:508542 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Short stature, Proteinuria |
OMIM:616901 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Postnatal growth ... |
OMIM:309000 |
Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight loss,... |
ORPHA:276621 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Failure to thrive, B lymphocytopenia |
ORPHA:397596 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Obesity |
OMIM:614231 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo... |
OMIM:607426 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndrome, Glycosuria |
ORPHA:263455 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Abnormal T cell sub... |
ORPHA:221139 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Absent circulating B cells |
OMIM:620282 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Scoliosis, Failure to thrive |
OMIM:610965 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Growth delay, Hemolytic anemia, Myoglobinuria, Acute kidney injury |
ORPHA:57 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolyt... |
OMIM:274150 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Hypospadias, Proximal placement of thumb, Ectopic kidney, Proteinuria, Hypoplasia ... |
OMIM:122470 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocytopenia, Bone marrow hypocellu... |
OMIM:301078 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Delayed puberty, Anemia |
OMIM:301500 |
Cockayne Syndrome B |
|
Renal insufficiency, Severe short stature, Small for gestational age, Proteinuria, Postnatal grow... |
OMIM:133540 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:607155 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Alg12-Cdg |
|
Overlapping fingers, Sandal gap, Hypospadias, Proximal placement of thumb, Long fingers, Short lo... |
ORPHA:79324 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Postnatal growth retardation, Contract... |
ORPHA:83617 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Postnatal growth retardation, Scoliosis, Failure to thrive, Anemia |
ORPHA:90321 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Short stature, Prote... |
OMIM:251300 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Myogl... |
ORPHA:713 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Tapered finger, Thrombocytopenia, Small hand, Renal h... |
OMIM:620005 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Growth delay, B lymphocytopenia |
OMIM:614069 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive... |
ORPHA:2728 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia... |
ORPHA:505248 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Splenomegaly, Hematuria, Bone marrow hypocellularity, Lymphopenia |
ORPHA:549 |
Oculocerebrorenal Syndrome Of Lowe |
|
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Short stature, Multiple rena... |
ORPHA:534 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Neutropenia, Mo... |
ORPHA:95455 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Arima Syndrome |
|
Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Growth delay, ... |
OMIM:243910 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight loss,... |
ORPHA:29072 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria |
ORPHA:91138 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Eosinophilia, Weight loss, Hematuria, Tubuloint... |
ORPHA:183 |
Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Short stature, Abnormal erythrocyte enzyme level, Splenomegaly, Increased body weight, Growth del... |
ORPHA:264580 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Normochromic... |
ORPHA:247691 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Wide anterior fontanel, Short sternum, Proteinuria |
OMIM:222448 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod... |
ORPHA:244242 |
Cockayne Syndrome A |
|
Hip contracture, Renal insufficiency, Short stature, Proteinuria, Splenomegaly, Kyphosis, Ivory e... |
OMIM:216400 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Short stature, Postnatal growth retardation, Splenomegaly, Increased body weight, Renal tubular a... |
ORPHA:79240 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... |
OMIM:616084 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Growth delay, Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... |
ORPHA:90035 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria |
ORPHA:36412 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal... |
OMIM:602450 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... |
OMIM:300908 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia |
ORPHA:71273 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Obesity, Prea... |
OMIM:619471 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Congenital Disorder Of Glycosylation, Type Ia |
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Proteinuria, Kyphosis, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Thrombocytosis, Fail... |
OMIM:212065 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Reduced erythrocyte 2,3-diphos... |
OMIM:232800 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Growth delay, Renal tubular dysfunctio... |
ORPHA:411629 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Aymé-Gripp Syndrome |
|
Short stature, Rocker bottom foot, Proteinuria, Tapered finger, Postnatal growth retardation, Rad... |
ORPHA:1272 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
Glycogen Storage Disease Ib |
|
Short stature, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Ne... |
OMIM:232220 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria |
OMIM:251900 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... |
OMIM:620133 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Postn... |
ORPHA:699 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... |
OMIM:254900 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... |
ORPHA:1018 |
Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Oroticaciduria, Hepatosplenomegaly, A... |
ORPHA:470 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... |
ORPHA:447 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Proportionate short stature, Intrauterine growth retardation, Myoglobinuri... |
ORPHA:71212 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Glycosur... |
ORPHA:2298 |
Glycogen Storage Disease Ia |
|
Proteinuria, Short stature, Nephrolithiasis, Growth delay, Focal segmental glomerulosclerosis, De... |
OMIM:232200 |
Cockayne Syndrome |
|
Neurogenic bladder, Severe short stature, Renal insufficiency, Urinary incontinence, Cachexia, Un... |
ORPHA:191 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Decreased glomerular filtration rate, Leukocytosis, Chro... |
ORPHA:340 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... |
ORPHA:2750 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Myoglobinuria, Leukopenia |
OMIM:255125 |
Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis |
ORPHA:254854 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria, Failure to thrive, Small for gestational age |
OMIM:609015 |
Martin-Probst Syndrome |
|
Renal insufficiency, Pancytopenia, Proteinuria, Short stature, Chordee, Micropenis |
OMIM:300519 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
Wilson Disease |
|
Hemolytic anemia, Hyperphosphaturia, Proteinuria, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
OMIM:277900 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Chronic neutropenia, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis,... |
ORPHA:79259 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Short stature, Sandal gap, 2-3 t... |
OMIM:251260 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Abnormal femur morphology, Hemat... |
ORPHA:324 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Elevated hemoglobin A1c, Sandal gap, Decreased fibular diameter, Postnatal growth ... |
OMIM:619127 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hemoglobinuri... |
OMIM:194380 |
Melas |
|
Short stature, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Nephropathy... |
ORPHA:550 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Short stature, Splenomegaly, Hemoglobinuria, Normochromic anemia, Delayed pube... |
OMIM:611881 |
Vater/Vacterl Association |
|
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retard... |
OMIM:192350 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Hemoglobinuria |
OMIM:266120 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Functional abnormality o... |
ORPHA:391487 |
Holoprosencephaly |
|
Hypoplasia of penis, Failure to thrive in infancy, Proteinuria, Abnormality of the spleen, Abnorm... |
ORPHA:2162 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... |
ORPHA:33001 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Gaucher Disease Type 3 |
|
Pancytopenia, Proteinuria, Splenomegaly, Growth delay, Anemia, Hematuria, Delayed puberty, Thromb... |
ORPHA:77261 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria, Obesity |
OMIM:612469 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, Tubuloint... |
ORPHA:358 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
Orofaciodigital Syndrome I |
|
Syndactyly, Short stature, Proteinuria, Short 2nd toe, Polydactyly, Radial deviation of finger, P... |
OMIM:311200 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocy... |
ORPHA:293978 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hematuria, Focal segmental glomeruloscleros... |
OMIM:232240 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Flexion contracture of finger |
ORPHA:206549 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Neuroleptic Malignant Syndrome |
|
Proteinuria, Urinary incontinence, Leukocytosis, Thrombocytosis, Myoglobinuria, Acute kidney inju... |
ORPHA:94093 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Chondritis of pinna, Hematuria, Chondritis |
ORPHA:728 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
Williams Syndrome |
|
Hypoplasia of penis, Abnormal form of the vertebral bodies, Abnormal tubulointerstitial morpholog... |
ORPHA:904 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hypereosinophilia, Hematuria, Nephrot... |
ORPHA:2035 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Exercise-induced myoglobinuria |
OMIM:201475 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal neutrophilic tubulitis, Renal interstitial edema, Weight loss, Sterile p... |
ORPHA:91500 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Leukopenia, Thrombocytopenia |
ORPHA:536 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Weight loss, Hematuria, Gran... |
ORPHA:900 |
Agel Amyloidosis |
|
Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Hemoglobinuria, Microangiopathic hemolytic... |
ORPHA:90038 |
Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Short stature, Absent circulating B cells, Delayed puberty |
OMIM:307200 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria |
OMIM:616878 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... |
OMIM:233450 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Clinodactyly of the 5th finger, Overlapping toe, Scoliosis, Proteinuria |
OMIM:616682 |
Gaucher Disease |
|
Pancytopenia, Short stature, Proteinuria, Splenomegaly, Anemia, Hematuria, Delayed puberty, Throm... |
ORPHA:355 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury |
ORPHA:90068 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Anuria, Leukocytosis, Oliguria, Acute kidney injury, Nephrotic r... |
ORPHA:544482 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia |
OMIM:300755 |
Familial Mediterranean Fever |
|
Proteinuria, Splenomegaly, Nephrocalcinosis, Nephrotic syndrome, Nephropathy |
ORPHA:342 |
Immunoglobulin A Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:761 |
Postinfectious Vasculitis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Weight loss, Hematuria |
ORPHA:48435 |
Acquired Generalized Lipodystrophy |
|
Proteinuria |
ORPHA:79086 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Proteinuria, Splenomegaly, Leukocytosis, Hematuria, Leukopenia, Throm... |
ORPHA:99827 |
Kawasaki Disease |
|
Leukocytosis, Proteinuria, Sterile pyuria |
ORPHA:2331 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto... |
OMIM:619381 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Pmm2-Cdg |
|
Proteinuria, Kyphoscoliosis, Long fingers, Nephrotic syndrome, Platyspondyly, Multiple renal cyst... |
ORPHA:79318 |