Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
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 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:608709 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Raynaud phenomenon, Myocarditis, ... |
ORPHA:206569 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr... |
OMIM:617575 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
American Trypanosomiasis |
|
Skin rash, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhy... |
ORPHA:3386 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Pedal edema, Pleural effusion, Hypotension, Arrhythmia, Pancreatitis, ... |
ORPHA:188 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla... |
ORPHA:3099 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Telangiectasia of the skin, Skin rash, Edema, Myocarditis, Xerost... |
ORPHA:81 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Congenital Enterovirus Infection |
|
Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Hep... |
ORPHA:292 |
Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Tubulointers... |
ORPHA:139402 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Myocarditis, Hepatitis, Joint swelling, Arthritis |
ORPHA:829 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion |
OMIM:602248 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Hypotension, Infectious encephalitis |
ORPHA:83317 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi... |
ORPHA:183 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency |
ORPHA:510 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... |
ORPHA:31205 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Myositis, Tachycardia, Fasciitis, Sinusitis, Edema, Pneumonia, Osteomyelitis, Myocarditis,... |
ORPHA:36234 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Pedal ed... |
ORPHA:3452 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Xerostomi... |
ORPHA:809 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Hepatitis, Endocarditis, Hypotension, Arrhythmia, Infectious encephali... |
ORPHA:549 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Q Fever |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, Pneumonia,... |
ORPHA:781 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Skin rash, Edema, Myocarditis, Congestive heart fa... |
ORPHA:2331 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... |
OMIM:208250 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... |
ORPHA:728 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Lujo Hemorrhagic Fever |
|
Shock, Maculopapular exanthema, Skin rash, Facial edema, Myocarditis, Periorbital edema, Fulminan... |
ORPHA:319213 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... |
ORPHA:79233 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Nail bed telangiectasia, Glomerulonephrit... |
ORPHA:90291 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Joint swelling, Pleural effusion, Juvenile rheumatoid ... |
ORPHA:85414 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... |
ORPHA:31824 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Xerostomi... |
OMIM:617321 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Uveitis, Dehydration, Ulcerative colitis, Ar... |
ORPHA:810 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria |
ORPHA:1473 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis... |
ORPHA:2552 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc... |
ORPHA:567546 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Nephritis, Infectio... |
ORPHA:73263 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr... |
ORPHA:2848 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Macular edema, Upper limb muscle weakness, Cardiomyopathy, Ab... |
ORPHA:892 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Glucose-Galactose Malabsorption |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:35710 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar... |
ORPHA:221 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Rhabdomyo... |
ORPHA:533 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Acute pancreatitis, Cardiac conduction abnormality, Edema, Myoc... |
ORPHA:466677 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... |
ORPHA:1304 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Non-Functioning Paraganglioma |
|
Hematuria, Elevated urinary epinephrine level, Elevated urinary dopamine level, Elevated urinary ... |
ORPHA:94080 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
Rhabdoid Tumor |
|
Hematuria, Renal neoplasm |
ORPHA:69077 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Nephroblastoma |
|
Hematuria, Nephroblastoma |
ORPHA:654 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... |
ORPHA:99827 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Tendon... |
OMIM:186580 |
Infection-Related Hemolytic Uremic Syndrome |
|
Acute colitis, Pneumonia, Edema, Myocarditis, Hypertension, Pleural empyema, Septic arthritis, Pa... |
ORPHA:544482 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormality of the bladder |
ORPHA:1839 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis |
ORPHA:231111 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis |
OMIM:102700 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Glycogen Storage Disease Vii |
|
Hematuria, Exercise-induced myoglobinuria |
OMIM:232800 |
Glanzmann Thrombasthenia |
|
Macroscopic hematuria |
ORPHA:849 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer... |
OMIM:232240 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... |
OMIM:252011 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Pleural em... |
ORPHA:449280 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:36412 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Vaginal hydrocele, Hematuri... |
ORPHA:2035 |
Hemophilia B |
|
Hematuria |
ORPHA:98879 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
Ruvalcaba Syndrome |
|
Hematuria, Cryptorchidism, Abnormal localization of kidney |
ORPHA:3121 |
Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Kikuchi-Fujimoto Disease |
|
Palpebral edema, Skin rash, Pustule, Myocarditis, Vasculitis, Vasculitis in the skin, Pleural eff... |
ORPHA:50918 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Relapsing Fever |
|
Hematuria, Abnormality of the urinary system, Acute kidney injury |
ORPHA:91547 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
Klippel-Trénaunay Syndrome |
|
Hematuria |
ORPHA:90308 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology |
OMIM:274150 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria |
OMIM:617021 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
Urachal Cyst |
|
Hematuria, Urachus fistula, Dysuria, Pyuria |
ORPHA:488 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Congestive heart failure, Pleural empyema, Constrictive pericard... |
ORPHA:67 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Immunodeficiency 22 |
|
Pericarditis, Capillary leak, Panniculitis, Chronic oral candidiasis, Ascites |
OMIM:615758 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria |
ORPHA:853 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Arthritis, Rhinitis, Chron... |
ORPHA:47612 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... |
ORPHA:93672 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Pericarditis, Fasciitis, Skin rash, Periorbital edema, Orchitis, Peritonitis, Vasculiti... |
ORPHA:32960 |
Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
Malakoplakia |
|
Proteinuria, Dysuria, Orchitis, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary... |
ORPHA:556 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... |
ORPHA:340 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria |
ORPHA:35909 |
Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... |
ORPHA:31826 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... |
OMIM:219800 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Acute pancreatitis, Chilblains, Portal hypertension, Edema, Pericardial effusion, H... |
OMIM:619487 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Joint swelling, Inflammat... |
ORPHA:29207 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Congestive heart failure, Second degree atrio... |
ORPHA:3385 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
Stormorken Syndrome |
|
Hematuria |
OMIM:185070 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Chronic Mucocutaneous Candidiasis |
|
Hematuria, Recurrent urinary tract infections |
ORPHA:1334 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis... |
ORPHA:342 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... |
OMIM:607426 |
Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction |
ORPHA:160 |
Amme Complex |
|
Hematuria |
OMIM:300194 |
Moderate Hemophilia A |
|
Hematuria |
ORPHA:169805 |
Sickle Cell Disease |
|
Hematuria, Renal insufficiency |
OMIM:603903 |
Acute Promyelocytic Leukemia |
|
Hematuria |
ORPHA:520 |
Spondyloenchondrodysplasia |
|
Hematuria, Chronic kidney disease, Proteinuria |
ORPHA:1855 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury |
ORPHA:90068 |
Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria |
ORPHA:761 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
Giant Cell Arteritis |
|
Hematuria, Renal insufficiency |
ORPHA:397 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Macroscopic hematuria |
ORPHA:274 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Postinfectious Vasculitis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Orchitis, Hematuria |
ORPHA:48435 |
Severe Hemophilia A |
|
Macroscopic hematuria |
ORPHA:169802 |
Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis |
ORPHA:774 |
Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Pleural effusion, Erysipelas |
OMIM:249100 |
Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis, Lymphadenitis... |
ORPHA:31204 |
Congenital Factor X Deficiency |
|
Hematuria |
ORPHA:328 |
Autoerythrocyte Sensitization Syndrome |
|
Hematuria |
ORPHA:324636 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Nephropathy, Abn... |
ORPHA:324 |
Mucoepithelial Dysplasia, Hereditary |
|
Hematuria |
OMIM:158310 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cryptorchidism, Proximal renal tubular acidosis... |
ORPHA:534 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis |
ORPHA:900 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... |
ORPHA:91500 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... |
ORPHA:90363 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio... |
OMIM:212065 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, Keratitis, Retrobulbar optic neur... |
ORPHA:90340 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232200 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Vasculitis, Vas... |
ORPHA:228123 |
Leptospirosis |
|
Pericarditis, Skin rash, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage,... |
ORPHA:509 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis, Testicular microlithiasis |
ORPHA:60025 |
Rift Valley Fever |
|
Hematuria |
ORPHA:319251 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Fabry Disease |
|
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria |
OMIM:301500 |
Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232220 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Proteinuria |
ORPHA:247691 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
Tyrosinemia, Type I |
|
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid... |
OMIM:276700 |
Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Tachycardia, Maculopapular exanthema, Skin rash, Orchitis, Pancreatitis, Hyp... |
ORPHA:99826 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hematuria, Micropenis, Hypospadias |
OMIM:619475 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Gaucher Disease |
|
Hematuria, Proteinuria |
ORPHA:355 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:1272 |
Chronic Graft Versus Host Disease |
|
Hematuria, Urinary bladder inflammation, Phimosis |
ORPHA:99921 |
Ayme-Gripp Syndrome |
|
Pericarditis, Camptodactyly |
OMIM:601088 |
Tetrasomy 9P |
|
Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Arthritis, Abnormal cardiac septum morp... |
ORPHA:3310 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int... |
ORPHA:79318 |