Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Senior-Loken Syndrome 4 |
|
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia |
OMIM:606996 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... |
OMIM:222100 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
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 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesang... |
OMIM:617575 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... |
OMIM:619609 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms,... |
ORPHA:213 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Polydipsia, Diabetes insipidus, Nocturia |
ORPHA:178029 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Decreased response to growth hormone stimulation test, Abnormal repetitive mannerism... |
OMIM:618347 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... |
ORPHA:320 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombo... |
OMIM:613845 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... |
OMIM:613677 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism... |
OMIM:239200 |
East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... |
ORPHA:199343 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abnormalit... |
ORPHA:223 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Polydipsia, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Polydipsia, Hypernatremia |
OMIM:125800 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... |
ORPHA:84081 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Polyphagia, Hyperglycemia |
OMIM:615986 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I... |
ORPHA:347 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciu... |
OMIM:612780 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... |
ORPHA:439232 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis, Abnormal ... |
OMIM:619428 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Diabetes insipidus |
ORPHA:95626 |
Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia |
ORPHA:3327 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... |
OMIM:607426 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... |
ORPHA:93111 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin con... |
ORPHA:95513 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ... |
OMIM:263800 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia |
OMIM:606528 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hypokalemia, Hyperaldosteronism... |
ORPHA:369929 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, De... |
OMIM:102700 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Nephronophthisis 19 |
|
Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephronophthisis, Hype... |
OMIM:616217 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Primary hyperparathyroidism, Nep... |
ORPHA:99880 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Saccharopinuria |
|
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy... |
OMIM:268700 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thrombocytopenia, ... |
OMIM:613496 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... |
OMIM:152700 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Primary hyperparathyroidism, Nep... |
ORPHA:143 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin-resistant diabet... |
ORPHA:769 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblain... |
OMIM:619487 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hypoglycemia, Pancreatitis, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental g... |
OMIM:232200 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Splenomegaly, Aminoaciduria, Abnormal circulating calcium-phosp... |
ORPHA:417 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Glucose intolerance, Nephronoph... |
OMIM:615630 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Rhyns Syndrome |
|
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... |
OMIM:602152 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:276621 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hypoglycemia, Splenomegaly, Hyperlipidemia, Pancreatitis, Neutropenia, Nephrolithias... |
OMIM:232220 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Proteinuria, Abnormal immunoglobulin level, Thrombocytopenia, ... |
OMIM:242900 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circul... |
OMIM:614034 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Male hypogonadism, Abnormality of... |
ORPHA:3463 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Increased circulating IgG level, Glucose in... |
ORPHA:2298 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,... |
OMIM:601678 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr... |
OMIM:260005 |
Stimmler Syndrome |
|
Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy... |
OMIM:608709 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia, Nephrotic ... |
OMIM:617303 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:29072 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Positive ferric chloride test, Aminoaciduria, Elevated urinary formiminoglu... |
OMIM:229100 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria |
OMIM:234500 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Proteinuria, Abnormality of thyroid physiology, Minimal change glomerulonephritis, T... |
ORPHA:1830 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Hyperli... |
OMIM:232240 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Polydipsia, Abnormality of... |
ORPHA:3157 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, R... |
OMIM:613159 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentrati... |
ORPHA:247691 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Galactosemia Iii |
|
Splenomegaly, Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with dif... |
ORPHA:525731 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Hypogonadotropic hypogonadism, Dysuria, Skin rash, Polydipsia... |
ORPHA:35687 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Whipple Disease |
|
Hyponatremia, Myositis, Pericarditis, Anorexia, Splenomegaly, Myocarditis, Insulin resistance, Uv... |
ORPHA:3452 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... |
OMIM:619858 |
Hsd10 Disease |
|
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Dysphagia, Conjunctiv... |
ORPHA:537 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hypoglycemia |
OMIM:615158 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Nephrocalcin... |
OMIM:208085 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... |
OMIM:618183 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Malar rash... |
ORPHA:93552 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Hypersplenism... |
ORPHA:731 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stage 5 chronic ki... |
OMIM:216360 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Familial Cold Urticaria |
|
Arthritis, Polydipsia, Conjunctivitis |
ORPHA:47045 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Progressive language deterioration, Impaired soc... |
ORPHA:168782 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Abnormal medullary pyramid morphology, Recurrent aspiration pneumonia |
ORPHA:79243 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Oliguria, Central hypothyroidism, Lymphocytosis... |
ORPHA:514 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno... |
ORPHA:1020 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:79238 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis |
OMIM:314300 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... |
OMIM:203800 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Short attention span, Compulsive behaviors, Attention deficit hyperacti... |
ORPHA:444002 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Joubert Syndrome 5 |
|
Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ... |
OMIM:610188 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Diabetes melli... |
ORPHA:101330 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Abnorma... |
ORPHA:209905 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... |
ORPHA:99845 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypercalc... |
ORPHA:2088 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... |
ORPHA:542323 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria, Reticulocytosis |
ORPHA:33574 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Hypoglycemia, Hypophosphatemia, ... |
OMIM:616026 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegaly, Multiple sm... |
OMIM:263200 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Proteinuria, Hypogonadotropic hypogonadism, Focal segmenta... |
ORPHA:550 |
Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Hematuria, Leukopenia, Addictive alcohol ... |
ORPHA:520 |
Tyrosinemia Type 1 |
|
Splenomegaly, Generalized aminoaciduria |
ORPHA:882 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia |
OMIM:238750 |
Galactosemia I |
|
Hemolytic anemia, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Albumi... |
OMIM:230400 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia |
ORPHA:2089 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus,... |
OMIM:613404 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Hyp... |
OMIM:251000 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Nephrotic range proteinu... |
ORPHA:544482 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Pancreatitis, Abnormal re... |
ORPHA:188 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Pneum... |
ORPHA:340 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Splenomegaly |
OMIM:618541 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria |
OMIM:604273 |
Microscopic Polyangiitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... |
ORPHA:727 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Thrombocytopenia |
OMIM:617397 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... |
ORPHA:2552 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia |
ORPHA:2158 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp... |
ORPHA:173 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperuricemia, Oral a... |
ORPHA:134 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... |
ORPHA:37042 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Aminoaciduria,... |
OMIM:249270 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... |
ORPHA:449427 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hyperactivity |
OMIM:620047 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... |
OMIM:118450 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... |
ORPHA:31826 |
Lassa Fever |
|
Increased circulating IgM level, Conjunctivitis, Oliguria, Dysphagia |
ORPHA:99824 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Thyroiditis, Hepatitis, Tubul... |
ORPHA:139402 |
Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... |
ORPHA:178320 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hyposp... |
OMIM:619488 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent otitis media, Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic... |
ORPHA:488627 |
Isolated Osteopoikilosis |
|
Abnormality of the endocrine system, Addictive alcohol use, Abnormality of the kidney, Discoid lu... |
ORPHA:166119 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... |
ORPHA:91351 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:603585 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Abnormal blood ion concen... |
ORPHA:31824 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Progressive Supranuclear Palsy |
|
Impulsivity, Unsteady gait, Abnormal synaptic transmission, Dementia, Falls, Cognitive impairment... |
ORPHA:683 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... |
ORPHA:399 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... |
OMIM:605850 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ... |
ORPHA:3337 |
Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod... |
ORPHA:634 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Insulin resistance, Glucose intoleran... |
OMIM:606721 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Recurrent ski... |
ORPHA:33001 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Anorexia, Chronic kidney disease, Imbalanced ... |
ORPHA:330015 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concentration... |
ORPHA:36238 |
Lujo Hemorrhagic Fever |
|
Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reac... |
ORPHA:319213 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Renal insufficiency, Oliguria, Dysphagia |
ORPHA:220393 |
Dermotrichic Syndrome |
|
Aminoaciduria, Anemia |
ORPHA:99688 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Sinusitis, Increased in... |
ORPHA:183 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Ketonuria, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... |
OMIM:208500 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenomegaly... |
OMIM:266920 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... |
OMIM:122470 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypoka... |
OMIM:617913 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Anorexia, Lacticacid... |
ORPHA:3008 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypo... |
OMIM:246200 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... |
OMIM:613254 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... |
OMIM:617595 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Zygomycosis |
|
Brain abscess, Renal insufficiency, Diabetes mellitus, Fasciitis, Sinusitis, Pericarditis, Gastri... |
ORPHA:73263 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Hypospadias |
OMIM:175700 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Hepatitis, Hypochromic microcytic anemia, Postprandial hyperglycemia, Anemia... |
ORPHA:440713 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, G... |
OMIM:619127 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Autoimmune t... |
ORPHA:227990 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... |
ORPHA:91500 |
D-Glyceric Aciduria |
|
Hypoglycemia, Tongue thrusting, Nonketotic hyperglycinemia, Aminoaciduria, Micropenis |
OMIM:220120 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Stage 5 chronic kidney dis... |
OMIM:608612 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash... |
ORPHA:227982 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:614520 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Aggressive behavior, Chorea, Impaired social interactions, Dysphagia |
OMIM:619738 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Horseshoe kidney |
OMIM:617140 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Hypogonadism |
OMIM:273400 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Self-injurious behavior, Atten... |
ORPHA:449291 |
Ogden Syndrome |
|
Global glomerulosclerosis, Eczema, Maternal diabetes, Abnormal repetitive mannerisms, Dysphagia, ... |
OMIM:300855 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... |
OMIM:277900 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Acute pancreatitis, Hyperglycemia |
OMIM:608600 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Sialidosis Type 1 |
|
Splenomegaly, Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialy... |
ORPHA:812 |
Young-Onset Parkinson Disease |
|
Short attention span, Restless legs, Impulsivity, Frontal lobe dementia, Dementia, Agitation, Gai... |
ORPHA:2828 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Addictive alcohol use, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypoth... |
ORPHA:90065 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Progressive psychomotor deterioration, Progressive gait ataxia, Dem... |
ORPHA:309271 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney, Attention deficit hyperactivit... |
ORPHA:459061 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Tubulointerstitial nephritis |
OMIM:614582 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Microcytic anemia, Me... |
OMIM:612073 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin concentration, Stag... |
OMIM:222700 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Enthesitis, Renal phos... |
ORPHA:289176 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive gait ataxia, Abnormal social behavior, Progressive psychomotor ... |
ORPHA:309263 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Yellow Fever |
|
Renal insufficiency, Neutrophilia, Anuria, Increased circulating interleukin 6 concentration, Ele... |
ORPHA:99829 |
Leprechaunism |
|
Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephroc... |
ORPHA:508 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... |
ORPHA:534 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Retrobulbar optic neuritis, Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Aminoaciduria, Hypoplasia of the thymus... |
OMIM:214110 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia... |
ORPHA:391673 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Elevated transferrin saturation, ... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Aminoaciduria, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cere... |
ORPHA:314647 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Bacterial endocarditis |
ORPHA:1054 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior, Progressive gait ataxia, Tip-toe gait, Gait ataxia |
ORPHA:309256 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Hypoglycemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoa... |
OMIM:124000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,... |
OMIM:619055 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Adrenal hypoplasia, Albuminuria, Aminoaciduria, Dysphagia, Elevated circulating long... |
OMIM:214100 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... |
ORPHA:90349 |
Scorpion Envenomation |
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Restlessness, Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Myoca... |
ORPHA:466677 |
Hypokalemic Periodic Paralysis |
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Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... |
ORPHA:681 |
Secondary Non-Traumatic Avascular Necrosis |
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Addictive alcohol use, Rheumatoid arthritis |
ORPHA:399180 |
Scalp-Ear-Nipple Syndrome |
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Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis |
OMIM:181270 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Intermediate Uveitis |
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Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Cocaine Intoxication |
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Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
48,Xxxy Syndrome |
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Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:96263 |
Fg Syndrome Type 1 |
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Abnormal social behavior, Broad-based gait, Compulsive behaviors, Attention deficit hyperactivity... |
ORPHA:93932 |
Fumarase Deficiency |
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Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated... |
OMIM:606812 |
Argininosuccinic Aciduria |
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Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Oroticaciduria, ... |
OMIM:207900 |
Adult Acute Respiratory Distress Syndrome |
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Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Alkaptonuria |
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Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis |
ORPHA:56 |
Niemann-Pick Disease Type C |
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Ataxia, Progressive neurologic deterioration, Aggressive behavior, Chorea, Dysphagia, Progressive... |
ORPHA:646 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Interstitial Lung And Liver Disease |
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Hyperammonemia, Aminoaciduria, Thrombocytosis, Hypothyroidism, Anemia |
OMIM:615486 |
Cole Disease |
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Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Prader-Willi Syndrome Due To Translocation |
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Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Autosomal Dominant Cutis Laxa |
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Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Cirrhotic Cardiomyopathy |
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Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep... |
ORPHA:57777 |
Sarcoidosis |
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Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypo... |
ORPHA:797 |
Short Syndrome |
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Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:269880 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevated hepatic iron ... |
OMIM:619991 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Ureteral duplication, Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Atypical Werner Syndrome |
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Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Abnormal circulating leptin concentratio... |
ORPHA:79474 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Insulin-resist... |
OMIM:151660 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypospadias, Decreased response to growth hormone stimulation test, Horseshoe kidney, Aspiration ... |
ORPHA:444077 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Histidinemia |
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Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b... |
ORPHA:805 |
Cranioectodermal Dysplasia 1 |
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Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:218330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ketonuria, Hypospadias, Hypoglycemia, Hyperammonemia, Dysphagia, Hyperglycemia |
OMIM:220111 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi... |
ORPHA:79078 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Kanzaki Disease |
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Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
Mitchell-Riley Syndrome |
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Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Mend Syndrome |
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Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
X-Linked Intellectual Disability, Armfield Type |
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Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
Dend Syndrome |
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Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Inability to walk, Abnormal social behavior |
ORPHA:1675 |
Xeroderma Pigmentosum |
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Keratitis, Aminoaciduria, Hypogonadism, Blepharitis |
ORPHA:910 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
Pancreatic And Cerebellar Agenesis |
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Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia |
OMIM:609069 |
Trichothiodystrophy |
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Reduced social reciprocity, Gait ataxia |
ORPHA:33364 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormality of cytokine secretion, A... |
ORPHA:567983 |
Williams Syndrome |
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Ataxia, Dysmetria, Gait disturbance, Gait imbalance, Compulsive behaviors, Attention deficit hype... |
ORPHA:904 |