Senior-Loken Syndrome 1 |
|
Polydipsia, Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria |
OMIM:266900 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria |
OMIM:606996 |
Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... |
OMIM:222100 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... |
OMIM:616892 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney... |
OMIM:619468 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:610725 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... |
OMIM:256370 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:256100 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... |
OMIM:615244 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Dysphagia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, T... |
OMIM:254900 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:614131 |
Renal Glucosuria |
|
Polyphagia, Polydipsia, Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:615573 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Adrenal insufficiency, Hypoglycemia, Nephrotic syndrome, Stag... |
OMIM:617575 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome |
OMIM:249660 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:600995 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:606966 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... |
ORPHA:93101 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney disease, Hypoa... |
OMIM:603278 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... |
OMIM:256300 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... |
OMIM:617730 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:618349 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hydronephrosis, Hypokalemia, Polydipsia, Central diabetes insipidus, Polyuria |
OMIM:304900 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... |
OMIM:616963 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:604387 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... |
OMIM:161900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism, Podocyte foot process effacement, Stage 5 chronic kidney disease, Diff... |
OMIM:619609 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... |
OMIM:606995 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... |
OMIM:614196 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... |
OMIM:613550 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... |
OMIM:619155 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... |
OMIM:618348 |
Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Polydipsia, Hypophosphatemia, Nephrogenic diabetes insipi... |
ORPHA:213 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Ochoa Syndrome |
|
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... |
ORPHA:2704 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... |
OMIM:619113 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Gait ataxia, Shyness |
OMIM:618221 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Neutropenia, Renal cyst, Anemia, Gout, Hyperuricemia, Nephrop... |
OMIM:617056 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... |
OMIM:611555 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Chronic kidney disease, Anemia, Hyperuricemia, Hypomagnesemia, Proteinu... |
OMIM:613845 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level, Polydips... |
ORPHA:320 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617731 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... |
OMIM:248250 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... |
ORPHA:2260 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:615862 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Joubert Syndrome 4 |
|
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency |
OMIM:609583 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Calcinosis, Ami... |
OMIM:239200 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Polydipsia, Hyperaldosteroni... |
OMIM:613677 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Polydipsia, Hypokalemia, Salt craving, Hypomagnesemia, ... |
ORPHA:199343 |
Central Diabetes Insipidus |
|
Diabetes insipidus, Hyponatremia, Nocturia, Polydipsia |
ORPHA:178029 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Hypernatremia, Polydipsia, Megacystis, Polyuria |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Polydipsia, Megacystis, Nephrogenic diabetes insipidus, Polyuria |
OMIM:125800 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Polydipsia, Renal insufficiency, Polyphagia |
OMIM:615986 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Polydipsia, Hypokalemia, Salt craving, Hypomagnesemia, ... |
OMIM:612780 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Streak ovary, Increased circulating gonad... |
ORPHA:347 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Nephrogenic ... |
ORPHA:223 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... |
OMIM:602522 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease |
ORPHA:3156 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria |
OMIM:143880 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Diabetes insipidus, Polydipsia |
ORPHA:95626 |
Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia, Hypopituitarism |
ORPHA:140976 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency |
OMIM:162000 |
Lysine Malabsorption Syndrome |
|
Hyperlysinuria, Renal tubular lysine transport defect |
OMIM:247950 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... |
ORPHA:439232 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Micropenis, Polyuria |
OMIM:615994 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Polydipsia, Thickening of the tubular basement membrane, Abnormal renal insters... |
ORPHA:84081 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy |
ORPHA:419 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... |
ORPHA:411634 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Dysphagia, Focal segmental glome... |
ORPHA:63 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... |
OMIM:153640 |
Helix Syndrome |
|
Hypokalemia, Polydipsia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Hypermagnesemia, Po... |
OMIM:617671 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia, Nephritis, Renal insufficiency |
ORPHA:3327 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... |
OMIM:615008 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... |
ORPHA:567544 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Polydipsia, Abnormal circulating renin, Glucocortocoid-insensit... |
ORPHA:251274 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... |
OMIM:617006 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Glomerular sclerosis, Ane... |
OMIM:607426 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Polydipsia, Nephrocalcinosis, Hypokalemia, Proximal tubulopathy... |
ORPHA:18 |
Saccharopinuria |
|
Saccharopinuria, Citrullinuria, Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine c... |
OMIM:268700 |
Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Polydipsia, Hypokalemia, Ab... |
ORPHA:411629 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease |
OMIM:616629 |
Jeune Syndrome |
|
Nephronophthisis, Renal insufficiency, Nephropathy |
ORPHA:474 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria |
OMIM:222730 |
Denys-Drash Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat... |
OMIM:194080 |
Gitelman Syndrome |
|
Polydipsia, Hypokalemia, Salt craving, Delayed puberty, Hypomagnesemia, Hypocalciuria, Renal pota... |
OMIM:263800 |
Cystinuria |
|
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Abnormality of endocrine p... |
ORPHA:93111 |
Nephronophthisis 13 |
|
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614377 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... |
OMIM:613090 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenos... |
OMIM:102700 |
Panhypophysitis |
|
Hyponatremia, Increased circulating prolactin concentration, Polydipsia, Decreased circulating co... |
ORPHA:95513 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Polydipsia, Increased urinar... |
ORPHA:231580 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hypokalemia, Polydipsia, Abnormal circulating renin, Nephrolithiasis, Hypera... |
ORPHA:369929 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... |
OMIM:607364 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Dysphagia, Thyroid carcinoma, Poly... |
ORPHA:99880 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Anemia, Nephropathy |
OMIM:266920 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... |
OMIM:242900 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Parath... |
ORPHA:358 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Decreased specific pneumococcal antibody level, Mesangial ... |
OMIM:613496 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... |
OMIM:152700 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Dysphagia, Thyroid carcinoma, Para... |
ORPHA:143 |
Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Polydipsia, Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting ... |
ORPHA:47159 |
Rhyns Syndrome |
|
Nephronophthisis, Pituitary hypothyroidism, Anterior hypopituitarism, Chronic kidney disease, Dec... |
OMIM:602152 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... |
ORPHA:182050 |
Hyperprolinemia, Type Ii |
|
Prolinuria, Hyperprolinemia, Hydroxyprolinuria, Hyperglycinuria |
OMIM:239510 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Long penis, Hypokalemia, Polydipsia, Ne... |
ORPHA:769 |
Cystinosis, Nephropathic |
|
Hyponatremia, Dysphagia, Renal Fanconi syndrome, Generalized aminoaciduria, Polydipsia, Nephrolit... |
OMIM:219800 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Polydip... |
OMIM:241200 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria |
OMIM:619428 |
Dibasic Amino Aciduria I |
|
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Neutropenia, Hypoglycemia, Hyperlipidemia, Decreased glomerul... |
OMIM:232220 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti... |
OMIM:104200 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria, Diabetes mellitus, Type I diabetes mellitus |
OMIM:560000 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Hypoalbuminemia, Diffus... |
OMIM:617729 |
Pierson Syndrome |
|
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... |
OMIM:609049 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal calcium-phosphate regulating hormone level, Aminoaciduria, Abnormality of the thyroid gl... |
ORPHA:417 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Diabetes mellitus, Membr... |
OMIM:608709 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hypoglycemia, Nephrocalcinosis, Hypertyrosinemia, Glomerular sclerosis, E... |
OMIM:276700 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Chronic kidney d... |
OMIM:615630 |
Nephronophthisis 19 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Splenomegaly |
OMIM:616217 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... |
OMIM:607665 |
Wolfram Syndrome |
|
Diabetes insipidus, Polydipsia, Abnormality of the urinary system, Dysuria, Anemia, Recurrent uri... |
ORPHA:3463 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Thrombocytosis, Increased circulating interleukin 6, Asplenia, Coombs-positive ... |
OMIM:614034 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomerular filtration... |
OMIM:232200 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fa... |
ORPHA:2298 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromoc... |
ORPHA:276621 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Xanthinuria, Type I |
|
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria |
OMIM:278300 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Abnormality of the urinary system, Diabetic ketoacidosis, Maturity-onset diabe... |
ORPHA:99886 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyper... |
OMIM:601678 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... |
OMIM:617609 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Enterocolitis, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephr... |
OMIM:260005 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, Leuko... |
OMIM:617303 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Nephritis, Goiter |
OMIM:274240 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:242600 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
ORPHA:42062 |
C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Stimmler Syndrome |
|
Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia, Histidinuria, Impaired histidine renal tubular absorption |
ORPHA:2158 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... |
ORPHA:84090 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Glomerular sclerosis, Stage 5 chronic kidney disease, Anemia, Rec... |
OMIM:619487 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Joubert Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:608629 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chlo... |
OMIM:229100 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... |
ORPHA:1830 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromoc... |
ORPHA:29072 |
Hyper-Beta-Alaninemia |
|
Hyperbeta-alaninemia, Increased urinary taurine |
OMIM:237400 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Lacticaciduria, Elevated circulating creati... |
OMIM:619386 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst |
OMIM:611560 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine |
ORPHA:1325 |
Galactosemia Iii |
|
Aminoaciduria, Hypergalactosemia, Galactosuria, Splenomegaly |
OMIM:230350 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Aminoaciduria, Increased seru... |
OMIM:603358 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Hypoparathyroidism, Nephrotic syndrome, Nephritis, Stag... |
OMIM:301050 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Pneumonia, Normochromic anemia, Elevated circulating creatinine concentration,... |
ORPHA:247691 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Cystathioninuria |
|
Nephrolithiasis, Cystathioninuria, Cystathioninemia |
ORPHA:212 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis... |
OMIM:613159 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Hematuria, Glomerulonephritis |
OMIM:314000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612926 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Polydipsia |
ORPHA:30925 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypokalemia, Polydipsia, Abnormal circulating renin, Secretory adrenocortica... |
ORPHA:403 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hypoalbuminemia, Diffuse mesangial sclero... |
OMIM:251300 |
Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Erdheim-Chester Disease |
|
Hydronephrosis, Diabetes insipidus, Polydipsia, Hypogonadotropic hypogonadism, Dysuria, Anemia, O... |
ORPHA:35687 |
Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Diabetes insipidus, Polydipsia, Abnormality of the hypothalamus-pituitary axis... |
ORPHA:3157 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hematuria, Decreased glomerular... |
OMIM:232240 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... |
ORPHA:329918 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Pyeloneph... |
ORPHA:730 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency |
OMIM:204690 |
Pediatric-Onset Graves Disease |
|
Increased circulating T4 level, Episcleritis, Polydipsia, Polyphagia, Neutropenia in presence of ... |
ORPHA:525731 |
Whipple Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Polydipsia, Myositis, Insulin r... |
ORPHA:3452 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Hydroxykynureninuria |
|
Aminoaciduria, Renal tubular dysfunction |
OMIM:236800 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Pericarditis, Monoclonal elevation of circulating IgA, Nephrotic synd... |
ORPHA:91139 |
Hyperprolinemia, Type I |
|
Prolinuria, Hyperprolinemia, Hydroxyprolinuria, Hyperglycinuria |
OMIM:239500 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... |
ORPHA:567546 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Neutropenia, Polydipsia, Dysuria, Anemia, Pancreatitis, Abnormality of the urethra, Th... |
ORPHA:537 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangitis, Polydipsia, Stage 5 chronic kidney disease, Splenomegaly, Recurrent ur... |
ORPHA:731 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Microangiopathic hemolytic anemia, Abnormality of the urinary system, Leukope... |
ORPHA:93552 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Renal dysplasia, Decreased circulating antibody level, Hypocalcemia, Hypomagnesemia... |
OMIM:618183 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Coach Syndrome 1 |
|
Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic kidney diseas... |
OMIM:216360 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabetes mellitus, A... |
OMIM:616026 |
Hypotonia-Cystinuria Syndrome |
|
Cystinuria, Nephrolithiasis, Polyphagia |
ORPHA:163690 |
Familial Cold Urticaria |
|
Arthritis, Polydipsia, Conjunctivitis |
ORPHA:47045 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Histidinuria Due To A Renal Tubular Defect |
|
Histidinuria, Impaired histidine renal tubular absorption |
OMIM:235830 |
Complement Factor I Deficiency |
|
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... |
OMIM:610984 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Retinal Venous Beading |
|
Nephritis, Neutropenia |
OMIM:180080 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Proximal tubulopathy, Aminoaciduria |
OMIM:612075 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria |
OMIM:618857 |
Joubert Syndrome 6 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... |
OMIM:600740 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis |
OMIM:616239 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia |
ORPHA:147 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Recurrent aspiration pneumonia, Abnormality of medullary pyramid morpho... |
ORPHA:79243 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Generalized aminoaciduria |
OMIM:136550 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... |
OMIM:618913 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Renal dysplasia, Nephritis, Pyelonephritis |
OMIM:314300 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Alaninuria, Diabetes mellitus |
OMIM:202900 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... |
OMIM:134600 |
Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Fatigable weakness, Inability to walk, Generalized dyst... |
ORPHA:255 |
Alstrom Syndrome |
|
Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, ... |
OMIM:203800 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... |
OMIM:613388 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... |
OMIM:262190 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Fasting hypoglycemia, Nephrocalcinosis, Renal tubul... |
ORPHA:2088 |
Senior-Loken Syndrome 8 |
|
Nephronophthisis |
OMIM:616307 |
Glutamate-Cysteine Ligase Deficiency |
|
Reticulocytosis, Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia |
ORPHA:33574 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Hydronephrosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration, Renal... |
ORPHA:158684 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... |
ORPHA:228302 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
Galactosemia I |
|
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased level of gala... |
OMIM:230400 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Myositis, Exercise-induced myoglobinuria, Dark uri... |
ORPHA:99845 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... |
OMIM:223900 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Chorea, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, B... |
ORPHA:248111 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Poor eye contact |
OMIM:300983 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Decreased urine output, Increased circulating interleukin 6,... |
ORPHA:542323 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Aminoaciduria, Splenomegaly, Hyperammonemia |
ORPHA:664 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Absence of renal corticomed... |
OMIM:259720 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Mental deterioration, Ataxia |
OMIM:615924 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Splenomegaly |
ORPHA:882 |
Hsd10 Disease |
|
Abnormal social behavior, Gait disturbance, Ataxia, Choreoathetosis |
ORPHA:391417 |
Melas |
|
Focal segmental glomerulosclerosis, Hypoparathyroidism, Type II diabetes mellitus, Proximal tubul... |
ORPHA:550 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Central hypothyroidism, Infectious encephalitis, Polydipsia, Hyperlipidemia, Polyph... |
ORPHA:293987 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Nephrolithiasis, Cystinuria, Hypocalcemia, Neonatal hypoglycemia, Hypergonadotropic h... |
OMIM:606407 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Poor eye contact |
ORPHA:444002 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Hypoparathyroidism, Abnormal drinking behavior, Congenital hypothyroidism, Megacysti... |
ORPHA:209905 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... |
OMIM:300009 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Ketonuria |
ORPHA:2089 |
Saccharopinuria |
|
Hypercystinemia, Cystinuria, Hyperammonemia, Citrullinuria, Abnormality of circulating enzyme lev... |
ORPHA:3124 |
Wilson Disease |
|
Hemolytic anemia, Hyperphosphaturia, Dysphagia, Renal tubular dysfunction, Hypoparathyroidism, Os... |
OMIM:277900 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Myocarditis, Septic arthritis, Diabetes mellitus, Hemolytic anemia, Abnormality of... |
ORPHA:544482 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Dibasicaminoaciduria, Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Oliguria, Abnormal renal tubule morphology... |
ORPHA:188 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Central hypothyroidism, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute ... |
ORPHA:514 |
Arima Syndrome |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:243910 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
Dyschondrosteosis And Nephritis |
|
Nephritis |
OMIM:127350 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Tubulointerstitial nephritis, Methylmalonic aciduria, Leukopenia, Stage 5... |
OMIM:251000 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
Plasminogen Deficiency, Type I |
|
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis |
OMIM:217090 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Microscopic Polyangiitis |
|
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Hematuria, Arthritis, Pancreatitis, Increased... |
ORPHA:727 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Aminoaciduria, Anemia |
OMIM:614946 |
Joubert Syndrome 5 |
|
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... |
OMIM:610188 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Renal dysplasia, Bifid ureter, Decreased numb... |
OMIM:617641 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Rowley-Rosenberg Syndrome |
|
Aminoaciduria, Recurrent pneumonia |
OMIM:268500 |
Joubert Syndrome 2 |
|
Abnormal renal physiology, Renal cyst, Nephronophthisis |
OMIM:608091 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Aminoaciduria |
OMIM:609560 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Decreased res... |
ORPHA:470 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated circulating c... |
OMIM:235400 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Erythroder... |
ORPHA:540 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Increased circu... |
ORPHA:340 |
Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Impai... |
ORPHA:168782 |
Cholera |
|
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypoglycemia, Hypokalemia, ... |
ORPHA:173 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia |
OMIM:613370 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Dicarboxylic aciduria, Elevated creatine kinase a... |
ORPHA:159 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopen... |
OMIM:249270 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Dysphagia, Calcinosis, Hydronephrosis, Aminoaciduria |
OMIM:617913 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, P... |
ORPHA:449427 |
Alagille Syndrome 1 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Renal tubular acidosis, Renal dysplasia, Mu... |
OMIM:118450 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in pre... |
ORPHA:37042 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... |
ORPHA:85450 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Eosinophilia, Elevated circulating C-reacti... |
ORPHA:449395 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... |
OMIM:614748 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... |
OMIM:614376 |
Cranioectodermal Dysplasia 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614099 |
Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Abnormal synaptic transmission, Un... |
ORPHA:683 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Ataxia, Abnormal social behavior, Memory impairment |
ORPHA:1020 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency |
OMIM:617595 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Schistocytosis, Hypo... |
ORPHA:90038 |
Degcags Syndrome |
|
Hypospadias, Choking episodes, Hepatosplenomegaly, Pancytopenia, Chronic kidney disease, Oral-pha... |
OMIM:619488 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis, Hypoglycemia, Hyperglycemia, Hyperuricemia, Hyperammonemia, Oral av... |
ORPHA:134 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu... |
ORPHA:157 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Hypoglycemia, Proximal tu... |
OMIM:231680 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub... |
OMIM:211900 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Enlarged pituitary gland, Polydipsia, Hypogonadism... |
ORPHA:91351 |
Colchicine Poisoning |
|
Myocarditis, Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria,... |
ORPHA:31824 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Hypokalemia, Increas... |
ORPHA:3337 |
Microsporidiosis |
|
Brain abscess, Sinusitis, Myocarditis, Cholangitis, Hepatitis, Abnormality of the urinary system ... |
ORPHA:2552 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... |
ORPHA:139402 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Lassa Fever |
|
Dysphagia, Increased circulating IgM level, Oliguria, Conjunctivitis |
ORPHA:99824 |
Dermotrichic Syndrome |
|
Aminoaciduria, Anemia |
ORPHA:99688 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness |
OMIM:618010 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Aminoaciduria, Proteinuria |
OMIM:603585 |
Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Aminoa... |
ORPHA:30 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated urinary N,N-dimethylglycine level, E... |
OMIM:605850 |
Netherton Syndrome |
|
Eczema, Hydronephrosis, Erythroderma, Decreased circulating antibody level, Increased circulating... |
ORPHA:634 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Recurrent sk... |
ORPHA:33001 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuri... |
ORPHA:183 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... |
OMIM:227810 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dysphagia, Renal insufficiency, Arthritis, Oliguria |
ORPHA:220393 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Short Rib-Polydactyly Syndrome |
|
Hypospadias, Nephronophthisis, Urogenital sinus anomaly, Polycystic kidney dysplasia, Multiple gl... |
ORPHA:1505 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior, Hyperactivity |
ORPHA:101039 |
Feingold Syndrome Type 1 |
|
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Nephritis, Vesicoureteral reflux, Renal insuff... |
ORPHA:391641 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus |
OMIM:618856 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Dysphagia, Leukopenia, Rhinitis, Fulminant hepatitis, Microscopic hema... |
ORPHA:319213 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Arthritis, Proteinuria,... |
ORPHA:2614 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Nephritis, Renal cyst, Conjugated hyperbilirubinemia, Chronic kidney disease, Proteinuria, Renal ... |
OMIM:208500 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu... |
ORPHA:228308 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Chordee, Pyelonephritis, Micropenis, Ureteropelvic junction obstruction, Vesicourete... |
OMIM:140000 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Shyness, Waddling gait, Difficulty walking |
ORPHA:280763 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Hyperactivity, Ataxia |
ORPHA:530983 |
Donohue Syndrome |
|
Fasting hypoglycemia, Long penis, Hyperglycemia, Pancreatic islet-cell hyperplasia, Postprandial ... |
OMIM:246200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Aminoac... |
OMIM:220110 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysphagia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate... |
ORPHA:488627 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Impaired social interactions, Ataxia, Progressive language deterioration |
OMIM:610042 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Renal corticomedullary cysts |
OMIM:219730 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Aminoac... |
ORPHA:436271 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria |
ORPHA:1933 |
Listeriosis |
|
Brain abscess, Myocarditis, Septic arthritis, Granulomatosis, Conjunctivitis, Liver abscess, Peri... |
ORPHA:533 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls |
ORPHA:2382 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Pyelonephritis, Duplication of renal pelvis, Recurrent urinary tract infect... |
ORPHA:2036 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Hyperglycemia |
OMIM:175700 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Multiple renal cysts, Reduced renal corticome... |
OMIM:618733 |
Sepsis In Premature Infants |
|
Leukocytosis, Increased circulating interleukin 6, Neutropenia, Reversible renal failure, Anemia,... |
ORPHA:90051 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Decreased cir... |
OMIM:616084 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Glucose intolerance, Elevated hemoglobin A1c, Hypertriglyceri... |
OMIM:619127 |
Zygomycosis |
|
Brain abscess, Sinusitis, Myocarditis, Splenic abscess, Neutropenia, Pericarditis, Infectious enc... |
ORPHA:73263 |
Duplication Of Urethra |
|
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Dysuria, C... |
ORPHA:237 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Renal tubular dysfunction, Hyperglycemia, Glycosuria, Reduced pancreatic be... |
ORPHA:99885 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hyperhomocystinemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic aciduria, Cystathion... |
OMIM:277380 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Gastritis, Renal tubu... |
ORPHA:31826 |
Landau-Kleffner Syndrome |
|
Steppage gait, Social and occupational deterioration, Hyperactivity, Attention deficit hyperactiv... |
ORPHA:98818 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic a... |
OMIM:277400 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased infl... |
ORPHA:158061 |
Argininosuccinic Aciduria |
|
Oroticaciduria, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Aminoaciduria |
ORPHA:23 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Hepatitis, Anemia, Postprandial hyperglycemia, Abnormal renal tubu... |
ORPHA:440713 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Anemia, Thrombocytopenia, Aminoaciduria, Ketonuria |
OMIM:614520 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Conjugated hyperbilirubinemia, ... |
OMIM:210550 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness |
OMIM:300801 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia |
OMIM:609425 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Renal hypoplasia, Thrombocytopenia, Pneumonia, Renal cyst, Otitis media, Reduced ren... |
OMIM:122470 |
Zttk Syndrome |
|
Horseshoe kidney, Polyuria, Unilateral renal agenesis |
OMIM:617140 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Peritonitis, Anuria, Megacystis, Fetal megacystis, Pyelonephritis |
OMIM:619351 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia, Choreoathetosis |
OMIM:612716 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... |
ORPHA:227990 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
Scalp-Ear-Nipple Syndrome |
|
Renal hypoplasia, Renal agenesis, Abnormality of the endocrine system, Pyelonephritis, Renal insu... |
OMIM:181270 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Anterior pituitary dysgenesis, Autoimmune hypopara... |
ORPHA:227982 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
D-Glyceric Aciduria |
|
Aminoaciduria, Nonketotic hyperglycinemia |
OMIM:220120 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypogonadism, Aminoaciduria |
OMIM:273400 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Poor eye contact, Hyperactivity, Ataxia, Mental deterioration, Progre... |
ORPHA:163681 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria, Hyperornithinemia |
ORPHA:414 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Myoclonic-Astatic Epilepsy |
|
Lack of peer relationships, Hyperactivity, Ataxia, Impaired social interactions, Unsteady gait, A... |
ORPHA:1942 |
Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... |
ORPHA:363400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... |
ORPHA:812 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Chorea |
ORPHA:88616 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Progressive psychomotor deterioration, Dementia, Chorea, Progressive gait ataxia, Abnor... |
ORPHA:309271 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... |
OMIM:604367 |
Fragile X Syndrome |
|
Hyperactivity, Poor eye contact |
OMIM:300624 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... |
ORPHA:330015 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic acidemia, Methyl... |
OMIM:612073 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis |
OMIM:270150 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Normochro... |
ORPHA:91500 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Hyperalaninemia |
OMIM:614582 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait |
OMIM:619470 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Impaired pain sensation, Chorea, Hyperactivity, Inability to walk, Gait ataxia |
ORPHA:500180 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased level of L-gl... |
ORPHA:3008 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Hyperphosphaturia, Renal phosphate wasting, Renal hypophosphatemi... |
ORPHA:289176 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Attention deficit hyperacti... |
ORPHA:1929 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal social behavior, Dystonia, Progressive psychomotor deterioration, Progressive gait ataxia |
ORPHA:309263 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Chorea, Hyperactivity, Ataxia |
ORPHA:382 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Aminoaciduria, Tubulointerstitial nephritis |
OMIM:124000 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Aminoaciduria, Elevated circulating long chain fatty acid concentrat... |
OMIM:214110 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Throm... |
OMIM:251880 |
Leprechaunism |
|
Central hypothyroidism, Fasting hypoglycemia, Hypokalemia, Long penis, Nephrocalcinosis, Insulin ... |
ORPHA:508 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Abnormality of iron homeostasis, Hyperglycemia, Hypogonadotropic hypogonadism... |
ORPHA:465508 |
Yellow Fever |
|
Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Urinary rete... |
ORPHA:79102 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Progressive gait ataxia, Tip-toe gait, Abnormal social behavior, Gait ataxia |
ORPHA:309256 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Neutropenia, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis... |
ORPHA:391673 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyelonephritis, Recurrent urinary tract infections, Urethral diverticulum, Multiple bladder diver... |
ORPHA:90349 |
Hardikar Syndrome |
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Cholangitis, Hydronephrosis, Decreased serum insulin-like growth factor 1, Impaired growth-hormon... |
OMIM:301068 |
Lysinuric Protein Intolerance |
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Oroticaciduria, Leukopenia, Anemia, Stage 5 chronic kidney disease, Pancreatitis, Hyperammonemia,... |
OMIM:222700 |
Fructose Intolerance, Hereditary |
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Hyperphosphaturia, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia,... |
OMIM:229600 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
8p23.1 deletion syndrome |
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Hyperactivity |
DECIPHER:39 |
Intellectual Disability, Birk-Barel Type |
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Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles |
ORPHA:166108 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney |
ORPHA:459061 |
Mental Retardation, X-Linked 77 |
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