| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
| Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| 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 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
| Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... |
OMIM:615008 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... |
OMIM:615888 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... |
OMIM:273800 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... |
OMIM:614201 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glom... |
OMIM:619155 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis |
OMIM:614009 |
| Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... |
ORPHA:849 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
| Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:609821 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat... |
OMIM:155100 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
| Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
| Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Impaired platelet aggregation, Epistaxis |
OMIM:605735 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:614652 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... |
OMIM:601399 |
| Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... |
OMIM:277480 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat... |
OMIM:231200 |
| Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Galactosemia I |
|
Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve... |
OMIM:230400 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
| Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o... |
OMIM:187900 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... |
OMIM:608709 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis |
OMIM:614076 |
| Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Aortic valve s... |
OMIM:193400 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... |
ORPHA:347 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggreg... |
OMIM:153670 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... |
OMIM:607426 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Hyperbilirub... |
OMIM:620010 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
| Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... |
OMIM:614075 |
| Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria |
ORPHA:225 |
| Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney |
ORPHA:79327 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
| Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Epistaxis, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
| Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... |
ORPHA:85443 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
| Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Epistaxis |
OMIM:614158 |
| Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
| Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:619487 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Urinary ... |
ORPHA:449395 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
| Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl... |
ORPHA:274 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... |
OMIM:232200 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
| Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Elevated circula... |
ORPHA:90291 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal tubul... |
OMIM:617303 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... |
ORPHA:2260 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... |
OMIM:613070 |
| Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Hyperlipidemia, Stage 5 chronic kidney disease, F... |
ORPHA:1830 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Increased urinary gl... |
ORPHA:247598 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Elevated circulating long chain fatty acid concentration... |
OMIM:214100 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... |
OMIM:232220 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Hyperuricemia, Ve... |
ORPHA:261222 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... |
OMIM:616026 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:247691 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hypoalbuminemia, Renal cyst |
OMIM:602579 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... |
OMIM:232240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:242900 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
| Sitosterolemia 1 |
|
Giant platelets, Impaired platelet aggregation, Thrombocytopenia |
OMIM:210250 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation, Epistaxis |
OMIM:614077 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Mgat2-Cdg |
|
Decreased circulating antibody level, Reflex asystolic syncope, Arrhythmia, Decreased circulating... |
ORPHA:79329 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme... |
OMIM:146255 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... |
OMIM:608233 |
| Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... |
OMIM:614034 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... |
ORPHA:411634 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Proteinuria, Abnormality of the kidney |
ORPHA:369 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Hypoalbuminemia |
OMIM:617021 |
| Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Hyper... |
ORPHA:1667 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc... |
OMIM:617093 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... |
ORPHA:247353 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... |
ORPHA:99885 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... |
ORPHA:213 |
| Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... |
OMIM:277900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Avian Influenza |
|
Acute kidney injury, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevate... |
ORPHA:454836 |
| Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... |
OMIM:617156 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal ren... |
ORPHA:540 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ... |
ORPHA:324636 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Hematuria, Hy... |
OMIM:232800 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Hypoalbuminemia |
OMIM:610965 |
| Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Glomerulonephritis, Elevated circulating... |
ORPHA:36234 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria |
OMIM:618886 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, Hypocholester... |
OMIM:212065 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ... |
ORPHA:358 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Generalized aminoaciduria,... |
OMIM:251880 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, 3-Methylglutaconic aciduria, Hypoalbuminemia |
OMIM:618329 |
| Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria |
ORPHA:834 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... |
ORPHA:505248 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
| Melas |
|
Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis |
ORPHA:550 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous ne... |
ORPHA:37042 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... |
OMIM:118450 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Neuraminidase Deficiency |
|
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... |
OMIM:256550 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo... |
OMIM:235200 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronephrosis |
OMIM:235510 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria |
ORPHA:330001 |
| Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Galactosuria, Hypoalbuminemia, Increased serum iron, Abnormality of iron homeostasis... |
OMIM:222470 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, Glycosuria, H... |
ORPHA:263455 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Proteinuria, Abnormal circulating fatty-acid concentrat... |
ORPHA:2298 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Pheochromocytoma |
|
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, 3... |
OMIM:251900 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag... |
OMIM:219800 |
| Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:36412 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... |
ORPHA:33001 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c |
OMIM:619127 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Renal insufficiency, Mild proteinuria |
OMIM:619147 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
| Alg12-Cdg |
|
Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis |
ORPHA:79324 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Myoglobinuria, Elevated circulating creatine ki... |
OMIM:609015 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil... |
OMIM:300908 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
| Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation, Low-to-normal blood pressure |
OMIM:241200 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
| Fabry Disease |
|
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria |
OMIM:301500 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
| Chédiak-Higashi Syndrome |
|
Epistaxis, Increased proportion of CD25+ mast cells, Abnormal platelet function, Abnormality of n... |
ORPHA:167 |
| Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Legionnaires Disease |
|
Hematuria, Renal insufficiency, Proteinuria, Hyponatremia |
ORPHA:549 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Increased circulating ferritin concentration |
OMIM:194380 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... |
ORPHA:340 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... |
ORPHA:423 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:607155 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Abnormal platelet function |
ORPHA:79443 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Noonan Syndrome |
|
Arrhythmia, Abnormal platelet function |
ORPHA:648 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis |
ORPHA:183 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
OMIM:608836 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Hyperbilirubinemia, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:300855 |
| Osteootohepatoenteric Syndrome |
|
Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration |
OMIM:619377 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
ORPHA:465508 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... |
ORPHA:14 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... |
OMIM:208500 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
OMIM:616878 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... |
ORPHA:48435 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis,... |
ORPHA:79240 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... |
ORPHA:2614 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hy... |
OMIM:611881 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
| Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis... |
ORPHA:2968 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
| Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
ORPHA:99826 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Chordee, Proteinuria |
OMIM:300519 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... |
OMIM:620306 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Proteinuria, Hypertriglyceridemia |
ORPHA:79086 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis,... |
ORPHA:264580 |
| Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... |
ORPHA:324 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... |
ORPHA:79259 |
| Primary Sclerosing Cholangitis |
|
Renal insufficiency, Hypoalbuminemia |
ORPHA:171 |
| Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
| Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Increased blood urea nitrogen |
ORPHA:90321 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Spondyloenchondrodysplasia |
|
Hematuria, Chronic kidney disease, Proteinuria |
ORPHA:1855 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... |
ORPHA:534 |
| Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
| Immunoglobulin A Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:761 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Micropenis, Proteinuria |
OMIM:619471 |
| Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:619534 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Hypomagnesemia, Lacticaciduria, Renal cyst, Hypophosphatemia, H... |
ORPHA:699 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:342 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... |
ORPHA:544482 |
| Relapsing Polychondritis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:728 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Abnormality of the urinary system, Proteinuria |
ORPHA:2162 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:365 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... |
OMIM:619991 |
| Williams Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Hyperc... |
ORPHA:904 |
| Cockayne Syndrome B |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:133540 |
| Cockayne Syndrome A |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:216400 |
| Gaucher Disease |
|
Hematuria, Proteinuria, Elevated circulating C-reactive protein concentration |
ORPHA:355 |
| Kawasaki Disease |
|
Proteinuria, Sterile pyuria |
ORPHA:2331 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Pmm2-Cdg |
|
Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Multiple renal cysts, Hypoalb... |
ORPHA:79318 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria, Elevated circulating creatine kinase concentration |
ORPHA:99827 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, H... |
ORPHA:116 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria |
OMIM:616682 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hypophosph... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
