Glycogen Storage Disease X |
|
Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Rh... |
OMIM:261670 |
Glycogen Storage Disease Ixd |
|
Exercise intolerance, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:300559 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Scapular winging, Calf muscle pseudohypertrophy, Proximal muscle weaknes... |
ORPHA:352479 |
Myoglobinuria, Recurrent |
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Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Glycogen Storage Disease Xi |
|
Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Rh... |
OMIM:612933 |
Glycogen Storage Disease V |
|
Exercise intolerance, Dark urine, Exercise-induced rhabdomyolysis, Elevated circulating creatine ... |
OMIM:232600 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... |
OMIM:620138 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Myalgia |
OMIM:255110 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
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Fatigue, Exercise intolerance, Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Elev... |
ORPHA:368 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Ce... |
OMIM:620235 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Rh... |
ORPHA:228302 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Myalgia, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Becker Muscular Dystrophy |
|
Exercise intolerance, Abnormal urinary color, Fatigue, Skeletal muscle atrophy, Elevated circulat... |
ORPHA:98895 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
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Renal insufficiency, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myalgia,... |
ORPHA:2364 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir... |
ORPHA:119 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
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Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Myalgia, Myoglobinuria,... |
OMIM:268200 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Exercise-induced rhabdomyolysis, Decreased muscle mass, Myoglobinuria, EMG: myopathic abnormaliti... |
ORPHA:57 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... |
OMIM:618848 |
Polyglucosan Body Myopathy 2 |
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Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Exercise Intolerance, Riboflavin-Responsive |
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Exercise intolerance, Ragged-red muscle fibers |
OMIM:616839 |
Inclusion Body Myositis |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Gne Myopathy |
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Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy... |
OMIM:253601 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Sinoatrial Node Dysfunction And Deafness |
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Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cr... |
OMIM:619733 |
Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
Myopathy, Sarcoplasmic Body |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:618129 |
Genetic Recurrent Myoglobinuria |
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Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... |
ORPHA:99845 |
Glycogen Storage Disease Vii |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Exercise-induced myoglo... |
OMIM:232800 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 2 muscle fiber atrophy, EMG: myopathic abnormali... |
ORPHA:2593 |
Welander Distal Myopathy |
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Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:613204 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... |
ORPHA:266 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Red-bro... |
ORPHA:228305 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Phosphoglycerate Kinase 1 Deficiency |
|
Exercise intolerance, Renal insufficiency, Exercise-induced myoglobinuria, Rhabdomyolysis, Myopathy |
OMIM:300653 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Achilles tend... |
OMIM:607155 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Myopathy, Distal, Tateyama Type |
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Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... |
OMIM:614321 |
Myopathy With Lactic Acidosis, Hereditary |
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Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... |
OMIM:255125 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Rhabdomyolysis, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... |
OMIM:619477 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con... |
OMIM:620386 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu... |
OMIM:613157 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... |
OMIM:300696 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra... |
ORPHA:1878 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Rhabdomyolysis |
OMIM:602199 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, M... |
OMIM:619178 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... |
OMIM:300717 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... |
OMIM:609524 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Rhabdomyolysis, Exercise-induced myalgia, Myopathy, Myoglobinuria |
ORPHA:713 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Rhabd... |
OMIM:251900 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Exercise intolerance, Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal... |
ORPHA:457050 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration... |
OMIM:607426 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Exercise-induced rhabdomyolysis, Exercise-induced myoglobinuria, Chronic kidney disease, Exercise... |
ORPHA:284426 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... |
OMIM:611615 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Arthralgia, Nephritis, IgA deposition in ... |
OMIM:613944 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Pure Mitochondrial Myopathy |
|
Exercise intolerance, Scapular winging, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... |
ORPHA:254854 |
Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat... |
OMIM:616471 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Red-bro... |
ORPHA:157 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fatigue, Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
ORPHA:79240 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... |
OMIM:300718 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Myalgi... |
OMIM:620300 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circula... |
OMIM:201475 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Proteinuria, Elevated circulating creatine kinase concentration, Cl... |
OMIM:614455 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:619566 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Myopathy, Centronuclear, 4 |
|
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine k... |
OMIM:614807 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... |
OMIM:616924 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc... |
OMIM:612937 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration |
OMIM:609500 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Myalgi... |
ORPHA:171442 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy, Myalgia, Myoglobinu... |
OMIM:609015 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Elevated circulatin... |
OMIM:617114 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... |
OMIM:123320 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
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 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Abdominal pain, Centrally nucleated skeletal ... |
ORPHA:86812 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased endomys... |
OMIM:620265 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... |
OMIM:619790 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fatigue, Exercise intolerance, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creati... |
ORPHA:264580 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Elevated circulating creatine kinase c... |
OMIM:160500 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... |
OMIM:617072 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Miyoshi Muscular Dystrophy 1 |
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Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
Iga Nephropathy, Susceptibility To, 1 |
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Proteinuria, Stage 5 chronic kidney disease, Hematuria, Arthralgia, Nephritis, IgA deposition in ... |
OMIM:161950 |
Focal Segmental Glomerulosclerosis 2 |
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Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Long Qt Syndrome 10 |
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Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
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Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... |
OMIM:616812 |
Focal Segmental Glomerulosclerosis 10 |
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Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Acquired Partial Lipodystrophy |
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Glomerulopathy, Proteinuria, Insulin resistance, Myopathy, Arthralgia, Microscopic hematuria |
ORPHA:79087 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Sternocleidomastoid amyotrophy, Thenar mu... |
OMIM:256030 |
Long Qt Syndrome 8 |
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Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglyc... |
ORPHA:71212 |
Malignant Hyperthermia Of Anesthesia |
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Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Myoglobinuria, Abnormality of masseter mus... |
ORPHA:423 |
Muscle Filaminopathy |
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Back pain, Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal mu... |
ORPHA:171445 |
Wolff-Parkinson-White Syndrome |
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Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Cardiomyopathy, Familial Hypertrophic, 6 |
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Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Atrial Standstill |
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Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Long Qt Syndrome 6 |
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Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Focal Segmental Glomerulosclerosis 5 |
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Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
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Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Focal Segmental Glomerulosclerosis 6 |
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Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
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Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... |
OMIM:603511 |
Congenital Myopathy 6 With Ophthalmoplegia |
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Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
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Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:353 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Ketonuria, Hypoglycemia, Acute rhabdomyolysis, Elevated circulating creatine kinase concentration... |
OMIM:616878 |
Primary Membranoproliferative Glomerulonephritis |
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Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Congenital Myopathy 10B, Mild Variant |
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Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... |
OMIM:620249 |
Zebra Body Myopathy |
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Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
Cardiomyopathy, Dilated, 1A |
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Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Chronic Atrial And Intestinal Dysrhythmia |
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Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Proteinuria, Chronic Benign |
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Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Nephrotic Syndrome, Type 15 |
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Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Nephrotic Syndrome, Type 7 |
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Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
Myopathy, Centronuclear, 1 |
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Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Long Qt Syndrome 14 |
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Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Childhood-Onset Nemaline Myopathy |
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Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene... |
ORPHA:171439 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
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Nephropathy, Proteinuria |
ORPHA:2820 |
Congenital Myopathy 10A, Severe Variant |
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Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyly of finger, Increa... |
OMIM:614399 |
Long Qt Syndrome 1 |
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Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, R... |
ORPHA:228308 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
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Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:613954 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
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Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Congenital Muscular Dystrophy, Ullrich Type |
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Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... |
ORPHA:75840 |
Brugada Syndrome 9 |
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Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Nephrotic Syndrome, Type 9 |
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Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
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Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Preeclampsia/Eclampsia 1 |
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Proteinuria |
OMIM:189800 |
Brugada Syndrome 3 |
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Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Coenzyme Q10 Deficiency, Primary, 3 |
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Nephrotic syndrome, Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:614652 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Neuroleptic Malignant Syndrome |
|
Fatigue, Rigors, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentr... |
ORPHA:94093 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Brugada Syndrome 7 |
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Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Severe X-Linked Mitochondrial Encephalomyopathy |
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Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
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Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Laing Early-Onset Distal Myopathy |
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Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... |
OMIM:608709 |
Congenital Myopathy 1B, Autosomal Recessive |
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Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Interstitial Nephritis, Karyomegalic |
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Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Urethral stricture, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle ... |
OMIM:226670 |
Adenine Phosphoribosyltransferase Deficiency |
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Abdominal colic, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Dysuria, F... |
ORPHA:976 |
Congenital Myopathy 20 |
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Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
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Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Romano-Ward Syndrome |
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Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Myopathy, X-Linked, With Excessive Autophagy |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
Atrial Fibrillation, Familial, 10 |
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Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Proximal Myopathy With Extrapyramidal Signs |
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Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Increased variab... |
ORPHA:401768 |
Fibronectin Glomerulopathy |
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Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Myopathy, Myofibrillar, 4 |
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Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... |
OMIM:609452 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Increased circulating creatine kinase MM isoform, Increased variability in muscle fiber diameter |
OMIM:613752 |
Short Qt Syndrome 1 |
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Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... |
OMIM:166300 |
Myopathic Ehlers-Danlos Syndrome |
|
Exercise intolerance, Congenital muscular torticollis, Decreased muscle mass, Multiple joint cont... |
ORPHA:536516 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
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Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Myalgia, Type II diabetes mellitus |
ORPHA:225 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Papa Syndrome |
|
Fatigue, Myositis, Proteinuria, Arthralgia, Type I diabetes mellitus |
ORPHA:69126 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Abdominal pain, Chest pain, Arthralgia, Renal amyloidosis |
OMIM:134610 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Arthralg... |
OMIM:613496 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic kidney disease, Type I diabetes m... |
ORPHA:275555 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Bone pain, Generalized aminoaciduria, Hypercalciuria, Renal pho... |
OMIM:613388 |
Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... |
OMIM:254090 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Chest pain, Arthralgia, Myalgia |
ORPHA:375 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hip pain, Fatty replacement of skeletal muscl... |
ORPHA:52430 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... |
OMIM:258450 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Bone pain, Nephrocalcinosis, Aminoaciduria, L... |
ORPHA:1652 |
Hereditary Renal Hypouricemia |
|
Back pain, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Abnormal renal phy... |
ORPHA:94088 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Fatigue, Paroxysmal nocturnal hemoglobinuria, Arthralgia, Abdominal pain |
OMIM:615399 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Nemaline bodi... |
OMIM:619334 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Acute kidney injury |
ORPHA:54057 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Cystinosis |
|
Fatigue, Renal insufficiency, Proteinuria, Renal tubular dysfunction, Myopathy, Aminoaciduria, Ty... |
ORPHA:213 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Facial palsy, Limb-girdle muscle weakness, Fl... |
ORPHA:171436 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Congenital Myopathy 22A, Classic |
|
Fatigue, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles ... |
OMIM:620351 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin... |
ORPHA:656 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter |
OMIM:614096 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Insulin resistance, Insulin-... |
ORPHA:79083 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Diabetes mellitus, Insulin resistance, Abnormality of skeletal muscle fiber size,... |
ORPHA:2348 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Cln3 Disease |
|
Ataxia, Bradykinesia, T-wave inversion, Shuffling gait, Bradycardia, Loss of ambulation |
ORPHA:228346 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic kidney disease, Nephrotic syndrom... |
ORPHA:85445 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fatigue, Proteinuria, Hyperinsulinemia, Renal Fanconi syndrome, Fasting hypoglycemia, Glycosuria,... |
ORPHA:263455 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Postexertional symptom exacerbation, Proteinuria, Abnormality of the kidney, Hypoglycemia |
ORPHA:369 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Bone pain, Stage 5 chronic kidney... |
OMIM:300009 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Type 2 musc... |
OMIM:613845 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Skeletal muscle atrophy |
OMIM:612300 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,... |
OMIM:616026 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Ar... |
OMIM:613404 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin... |
ORPHA:567548 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Neuraminidase Deficiency |
|
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... |
OMIM:256550 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Neurogenic bladder |
OMIM:619173 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Mesangial hypercellularity, Stage 5 chron... |
OMIM:617575 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ... |
ORPHA:93108 |
Autoinflammatory-Pancytopenia Syndrome |
|
Type I diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Aplasia/Hypoplasia of the abdominal wall musculature, Proteinuria |
ORPHA:834 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia |
ORPHA:95717 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Fatigue, Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Epi... |
ORPHA:276621 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R... |
OMIM:220110 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Mildly elevated creatine kinase, Increased intramyocellular lipid dro... |
ORPHA:681 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bone pain, Bicarbonaturia, Bic... |
ORPHA:3337 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Abn... |
ORPHA:2260 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Renal insufficiency, Proteinuria, Abdominal pain, Renal interstitial amyloid deposits,... |
ORPHA:85450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Arthralgia, Myalgia,... |
ORPHA:91138 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
OMIM:613327 |
Optic Atrophy 11 |
|
Facial diplegia, Mildly elevated creatine kinase, Increased variability in muscle fiber diameter,... |
OMIM:617302 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
Donnai-Barrow Syndrome |
|
Proteinuria, Congenital diaphragmatic hernia |
ORPHA:2143 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunction, Aminoacidur... |
ORPHA:436271 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Hemoglobinuria, Myopathy, Increased variabili... |
OMIM:611881 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Truncal ataxia |
OMIM:614407 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyol... |
OMIM:157640 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Abdominal pain, Hematuria, Nephrotic synd... |
ORPHA:93552 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... |
ORPHA:261222 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus... |
OMIM:607459 |
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 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Myalgia, Incre... |
ORPHA:502423 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Paroxysmal Cold Hemoglobinuria |
|
Back pain, Abnormal urinary color, Arthralgia, Hemoglobinuria |
ORPHA:90035 |
Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Camptodactyly of finger |
ORPHA:2774 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Lacticaciduria |
OMIM:615595 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia |
OMIM:609286 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Insulin-Resistance Syndrome Type B |
|
Fatigue, Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes me... |
ORPHA:2298 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Fatigue, Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Epi... |
ORPHA:29072 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Ocular pain, Chronic kidney disease, Abnormal urine potassium c... |
ORPHA:411634 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Legionnaires Disease |
|
Fatigue, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Chest pain, Arthralgia, Mya... |
ORPHA:549 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Bone pain, Nephrolithiasis, Hypercalciuria, Nephroca... |
OMIM:300554 |
Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Flexion contracture, Bone pain, Arthralgia, Myalgia, Microscopic hem... |
ORPHA:77297 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fatigue, Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Abdominal pain, Hematuria, T... |
ORPHA:183 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Aapoaiv Amyloidosis |
|
Back pain, Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial ... |
ORPHA:439232 |
Renal Nutcracker Syndrome |
|
Fatigue, Proteinuria, Abdominal pain, Flank pain, Hematuria, Renal artery stenosis, Microscopic h... |
ORPHA:71273 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Myalgia, Elevated circulating ... |
OMIM:617675 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Abdominal pain, Urinary mulberry cells, Left ventricular hypert... |
OMIM:301500 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Abdominal pain, Rena... |
ORPHA:93126 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Hellp Syndrome |
|
Back pain, Shoulder pain, Fatigue, Proteinuria, Abdominal pain, Hemoglobinuria, Epigastric pain, ... |
ORPHA:244242 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Al Amyloidosis |
|
Fatigue, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid ... |
ORPHA:85443 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ... |
OMIM:619424 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... |
OMIM:616538 |
Myasthenic Syndrome, Congenital, 19 |
|
Exercise intolerance, Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Fatigue, Minimal change glomerulonephritis, Abdominal pain, Chronic kidney disease, Stage 5 chron... |
ORPHA:567546 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pecto... |
OMIM:161200 |
Simple Cryoglobulinemia |
|
Fatigue, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality ... |
ORPHA:91139 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:604377 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Hypospadias, Hypoglycemia, Flexion contracture, Ragged-red muscle fibers... |
ORPHA:17 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Distal amy... |
OMIM:164310 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Bradycardia |
ORPHA:95716 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Glycogen Storage Disease Ia |
|
Decreased muscle mass, Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomeruloscler... |
OMIM:232200 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Myalgia |
ORPHA:36412 |
Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Kn... |
ORPHA:2614 |
Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Bowel incontinence, Glomerulonephrit... |
ORPHA:90291 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... |
OMIM:613150 |
Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Bone pain, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... |
ORPHA:18 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Proteinuria, Insulin resistance, Insulin-resistant diabetes mellit... |
ORPHA:79086 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Tubulointerst... |
ORPHA:33001 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Diabetes ... |
OMIM:219800 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Diaphragmatic eventration, Proteinuria, Congenital diaphragmat... |
OMIM:222448 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Chest pain, Proteinuria |
ORPHA:90060 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Flexion contracture, Nephrotic syndrome, Focal segmental glomerulosclerosis, Macrogl... |
OMIM:617303 |
Melas |
|
Exercise intolerance, Diabetes mellitus, Proteinuria, Ragged-red muscle fibers, Focal segmental g... |
ORPHA:550 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:619487 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Necrotizing Enterocolitis |
|
Shock, Lethargy, Bradycardia, Hypotension |
ORPHA:391673 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Abdominal pain... |
ORPHA:358 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Camptodactyly of finger |
ORPHA:2065 |
Malakoplakia |
|
Proteinuria, Dysuria, Abdominal pain, Urinary bladder inflammation, Urinary urgency, Hematuria, C... |
ORPHA:556 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Hematuria, Limb pain, Proteinuria |
OMIM:192315 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Bradycardia |
OMIM:614498 |
Hemorrhagic Fever-Renal Syndrome |
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Back pain, Fatigue, Anuria, Proteinuria, Glomerulonephritis, Abdominal pain, Chronic kidney disea... |
ORPHA:340 |
Igg4-Related Kidney Disease |
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Fatigue, Renal insufficiency, Proteinuria, Abdominal pain, Renal interstitial immunoglobulin depo... |
ORPHA:449395 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Dyspepsia, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Chest ... |
ORPHA:1018 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Lymphatic Filariasis |
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Fatigue, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Hematuria, Nephrotic syndrom... |
ORPHA:2035 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Loss of ambulation, Tip-toe gait, Bradycardia |
ORPHA:565624 |
Wilson Disease |
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Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Malaise, Renal tubular dysfuncti... |
OMIM:277900 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology |
OMIM:274150 |
Ohdo Syndrome |
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Proteinuria |
OMIM:249620 |
Cocaine Intoxication |
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Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Abdominal pa... |
ORPHA:90068 |
Schimke Immunoosseous Dysplasia |
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Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:242900 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Pseudo-Torch Syndrome 3 |
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Acute kidney injury, Proteinuria |
OMIM:618886 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Nephrotic syndrome, Heavy p... |
ORPHA:505248 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Glomerular sclerosis, Nephropathy, Proteinuria, Weakness of facial musculature |
ORPHA:247691 |
Fabry Disease |
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Fatigue, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Nephrotic s... |
ORPHA:324 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
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Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Galloway-Mowat Syndrome 3 |
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Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Cam... |
OMIM:617729 |
Lethal Congenital Contracture Syndrome 10 |
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Macroglossia, Increased variability in muscle fiber diameter, Torticollis |
OMIM:617022 |
Infantile Nephropathic Cystinosis |
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Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Bradycardia |
ORPHA:226313 |
Acitretin/Etretinate Embryopathy |
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Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Spondyloenchondrodysplasia |
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Proteinuria, Chronic kidney disease, Hematuria, Myalgia, Lower limb pain |
ORPHA:1855 |
Gaucher Disease Type 1 |
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Hematuria, Proteinuria, Bone pain, Abdominal pain |
ORPHA:77259 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Encephalitis Lethargica |
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Lethargy, Bradycardia |
ORPHA:83600 |
Congenital Disorder Of Glycosylation, Type Ia |
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Proteinuria, Flexion contracture, Renal cyst, Nephrotic syndrome, Proximal tubulopathy |
OMIM:212065 |
Glycogen Storage Disease Ib |
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Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232220 |
Galloway-Mowat Syndrome 1 |
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Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Episodic abdominal pai... |
ORPHA:447 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
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Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
Granulomatosis With Polyangiitis |
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Fatigue, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Abdominal pain, Hem... |
ORPHA:900 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Fatigue, Abdominal pain, Flank pain, Ocular pain, Renal neutrophilic tubulitis, Renal interstitia... |
ORPHA:91500 |
Cornelia De Lange Syndrome 1 |
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Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Abnormal renal morphol... |
OMIM:122470 |
Arima Syndrome |
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Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Pheochromocytoma |
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Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Immunoglobulin A Vasculitis |
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Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Arthralgia, Myalgia |
ORPHA:761 |
Agel Amyloidosis |
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Facial palsy, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Lethargy, Bradycardia |
ORPHA:90673 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Bradycardia |
OMIM:608800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
Cockayne Syndrome Type 1 |
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Renal insufficiency, Proteinuria, Foot joint contracture |
ORPHA:90321 |
Glossopharyngeal Neuralgia |
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Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Osteootohepatoenteric Syndrome |
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Proteinuria, Grade II vesicoureteral reflux, Abdominal pain |
OMIM:619377 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Hypospadias, Macroglossia, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
Glycogen Storage Disease Ic |
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Renal insufficiency, Proteinuria, Hypoglycemia, Hematuria, Focal segmental glomerulosclerosis, De... |
OMIM:232240 |
Proximal Spinal Muscular Atrophy |
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Inability to walk, Bradycardia, Difficulty walking |
ORPHA:70 |
Goodpasture Syndrome |
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Fatigue, Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Chest pain, Glomerula... |
OMIM:233450 |
Gaucher Disease Type 3 |
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Fatigue, Hematuria, Bone pain, Proteinuria |
ORPHA:77261 |
Familial Mediterranean Fever |
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Proteinuria, Abdominal pain, Nephrocalcinosis, Nephrotic syndrome, Chest pain, Arthralgia, Myalgi... |
ORPHA:342 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
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Renal insufficiency, Mild proteinuria |
OMIM:619147 |
D-Glyceric Aciduria |
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Bradycardia |
OMIM:220120 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
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Mild proteinuria |
OMIM:619685 |
Wagro Syndrome |
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Nephroblastoma, Proteinuria |
OMIM:612469 |
Martin-Probst Syndrome |
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Renal insufficiency, Micropenis, Chordee, Proteinuria |
OMIM:300519 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Campt... |
OMIM:309000 |
Lysinuric Protein Intolerance |
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Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
Infection-Related Hemolytic Uremic Syndrome |
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Fatigue, Anuria, Diabetes mellitus, Abdominal pain, Oliguria, Abdominal cramps, Acute kidney inju... |
ORPHA:544482 |
Congenital Disorder Of Glycosylation, Type Im |
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Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Hemoglobinuria, Abdominal pain |
OMIM:300908 |
Holoprosencephaly |
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Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Congenital diaphragmatic herni... |
ORPHA:2162 |
Pierson Syndrome |
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Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... |
OMIM:609049 |
Xfe Progeroid Syndrome |
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Renal insufficiency, Proteinuria |
OMIM:610965 |
Cockayne Syndrome |
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Skeletal muscle atrophy, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinen... |
ORPHA:191 |
Kawasaki Disease |
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Fatigue, Proteinuria, Abdominal pain, Sterile pyuria, Arthralgia |
ORPHA:2331 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
Aymé-Gripp Syndrome |
|
Proteinuria, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:1272 |
Sepsis In Premature Infants |
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Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
Postinfectious Vasculitis |
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Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Abdominal pain, Night ... |
ORPHA:48435 |
Oculocerebrorenal Syndrome Of Lowe |
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Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Gaucher Disease |
|
Fatigue, Proteinuria, Abdominal pain, Bone pain, Hematuria, Arthralgia, Arthrogryposis multiplex ... |
ORPHA:355 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Proteinuria, Hypoglycemia, Nephrolithiasis, Stage 5 chronic kidney disease, Hypoglycemic seizures... |
ORPHA:79259 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Bradycardia |
ORPHA:90674 |
Lujo Hemorrhagic Fever |
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Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthralgia, Gangrene |
ORPHA:728 |
Pearson Syndrome |
|
Renal insufficiency, Diabetes mellitus, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria |
ORPHA:699 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hemoglobinuria |
OMIM:194380 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Flexion contracture, Focal segmental glomerulosclerosis, Glucose intolerance, Left v... |
OMIM:619127 |
Cockayne Syndrome A |
|
Hip contracture, Renal insufficiency, Micropenis, Proteinuria |
OMIM:216400 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Anuria, Acute kidney injury, Abdominal pain |
ORPHA:90038 |
Bardet-Biedl Syndrome 20 |
|
Micropenis, Proteinuria |
OMIM:619471 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Bradycardia |
OMIM:218700 |
Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Type I diabetes mellitus, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Cockayne Syndrome B |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:133540 |
Orofaciodigital Syndrome I |
|
Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
Bohring-Opitz Syndrome |
|
Inability to walk, Bradycardia |
ORPHA:97297 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Bradycardia |
ORPHA:226307 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Bradycardia |
OMIM:617248 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Encopresis, Proteinuria |
OMIM:616682 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Fatigue, Abnormal penis morphology, Dysuria, Vulvodynia, Renal tubular epithelial necrosis, Hemat... |
ORPHA:95455 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, Moderate albuminuria |
OMIM:614231 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Type I diabetes mellitus, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microsc... |
OMIM:619525 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Pmm2-Cdg |
|
Multiple joint contractures, Proteinuria, Insulin resistance, Hyperinsulinemia, Nephrotic syndrom... |
ORPHA:79318 |