Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated uridine in urine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Lysine Malabsorption Syndrome |
|
Hyperlysinuria, Renal tubular lysine transport defect |
OMIM:247950 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Dibasic Amino Aciduria I |
|
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:242600 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
ORPHA:42062 |
Hyperprolinemia, Type Ii |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:239510 |
Hyperprolinemia Type 1 |
|
Prolinuria, Proteinuria, Nephropathy |
ORPHA:419 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Cystinuria |
|
Ornithinuria, Cystinuria, Nephrolithiasis, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Threoninemia |
|
Hyperthreoninuria |
OMIM:273770 |
Saccharopinuria |
|
Citrullinuria, Histidinuria, Hyperlysinuria, Saccharopinuria |
OMIM:268700 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine |
ORPHA:1325 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Cataract 47 |
|
Glycosuria |
OMIM:612018 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Neuroblastoma |
|
Elevated urinary catecholamines |
ORPHA:635 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyur... |
OMIM:619468 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Renal tubular dysfunction, Glycosuria, Nephropathy |
ORPHA:69076 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria |
OMIM:204750 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine |
OMIM:237400 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:266900 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Gastric Cancer |
|
Increased level of L-fucose in urine |
OMIM:613659 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria |
OMIM:229100 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Generalized aminoaciduria |
OMIM:136550 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
Valinemia |
|
Valinuria |
OMIM:277100 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria |
OMIM:234500 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:606996 |
Hydroxykynureninuria |
|
Aminoaciduria, Renal tubular dysfunction |
OMIM:236800 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria |
OMIM:236250 |
Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:239500 |
Gracile Syndrome |
|
Aminoaciduria |
OMIM:603358 |
Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Renal tubular dysfunction |
OMIM:606528 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria |
OMIM:230350 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
Type 1 Diabetes Mellitus |
|
Polyuria, Polyphagia, Polydipsia |
OMIM:222100 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... |
OMIM:161900 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria |
OMIM:309930 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:256100 |
Argininemia |
|
Diaminoaciduria |
ORPHA:90 |
Histidinuria Due To A Renal Tubular Defect |
|
Histidinuria, Impaired histidine renal tubular absorption |
OMIM:235830 |
Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Proximal tubulopathy, Aminoaciduria |
OMIM:612075 |
Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... |
OMIM:300555 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Dibasicaminoaciduria |
OMIM:238750 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Impaired histidine renal tubular absorption |
ORPHA:2158 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency |
OMIM:613388 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria |
OMIM:613646 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Alaninuria |
OMIM:202900 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabetes mellitus, Aminoaciduria, ... |
OMIM:616026 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:606966 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:604387 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hydronephrosis, Polyuria, Polydipsia |
OMIM:304900 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria |
OMIM:618857 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Rowley-Rosenberg Syndrome |
|
Aminoaciduria |
OMIM:268500 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... |
OMIM:134600 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level |
OMIM:605850 |
Hypotonia-Cystinuria Syndrome |
|
Cystinuria, Polyphagia, Nephrolithiasis |
ORPHA:163690 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria |
ORPHA:664 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... |
ORPHA:93101 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... |
OMIM:606995 |
Hypertryptophanemia |
|
Tryptophanuria |
OMIM:600627 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Glucose/Galactose Malabsorption |
|
Glycosuria, Abnormal oral glucose tolerance |
OMIM:606824 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:618913 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Ketonuria |
ORPHA:2089 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... |
OMIM:248250 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Saccharopinuria |
|
Hyperlysinuria, Citrullinuria, Cystinuria |
ORPHA:3124 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria |
OMIM:617950 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria |
ORPHA:2157 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria |
OMIM:235800 |
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 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria |
OMIM:174810 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria |
OMIM:609560 |
Glycine Encephalopathy |
|
Hyperglycinuria |
OMIM:605899 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Renal insufficiency, Lacticaciduria |
OMIM:619386 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria, Polydipsia |
OMIM:613677 |
Ochoa Syndrome |
|
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... |
ORPHA:2704 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polydipsia, Aminoaciduria, Polyuria, Hypercalciuria |
OMIM:239200 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... |
OMIM:613550 |
Galactosemia I |
|
Increased level of galactitol in urine, Aminoaciduria, Albuminuria, Galactosuria |
OMIM:230400 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Dysphagia, Abnormal urinary acylglycine profile |
ORPHA:391417 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria |
OMIM:614946 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612926 |
Hypercalcemia, Infantile, 1 |
|
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis |
OMIM:143880 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... |
OMIM:300009 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Sarcosinemia |
|
Hypersarcosinuria |
ORPHA:3129 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... |
ORPHA:2260 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
ORPHA:23 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... |
ORPHA:567544 |
Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
Tryptophanuria With Dwarfism |
|
Tryptophanuria |
OMIM:276100 |
Cystinosis |
|
Renal tubular dysfunction, Polydipsia, Nephropathy, Aminoaciduria, Proteinuria, Renal insufficiency |
ORPHA:213 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Polydipsia, Salt craving, Hypocalciuria, Renal potassiu... |
OMIM:612780 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria |
ORPHA:1933 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria |
OMIM:239350 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria |
OMIM:204000 |
2P21 Microdeletion Syndrome |
|
Cystinuria, Nephrolithiasis |
ORPHA:163693 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria, Polydipsia |
OMIM:125800 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Fasting hypoglycemia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubul... |
ORPHA:2088 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria, Polydipsia |
OMIM:304800 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:309541 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria |
ORPHA:30 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Helix Syndrome |
|
Polydipsia, Nephrolithiasis, Hypocalciuria, Polyuria, Renal insufficiency |
OMIM:617671 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Cryoglobulinemia, Familial Mixed |
|
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... |
OMIM:123550 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Aminoaciduria, Dysphagia, Hydronephrosis |
OMIM:617913 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Acute kidney injur... |
ORPHA:79233 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wasting, Polyuria |
OMIM:613845 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Dysphagia, Organic aciduria |
OMIM:255100 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyc... |
ORPHA:263455 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria |
OMIM:250940 |
D-Glyceric Aciduria |
|
Aminoaciduria |
OMIM:220120 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria |
ORPHA:414 |
Primary Fanconi Renotubular Syndrome |
|
Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Bicarbonate-wasting renal tubular ... |
ORPHA:3337 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Polydipsia, Proximal tubulopathy, Elevated circulating creatinine concent... |
ORPHA:411634 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria |
OMIM:615994 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Homocystinuria |
OMIM:236270 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... |
OMIM:607364 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine |
OMIM:271980 |
Wilson Disease |
|
Hyperphosphaturia, Dysphagia, Renal tubular dysfunction, Nephrolithiasis, Glycosuria, Aminoacidur... |
OMIM:277900 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Polydipsia, Salt craving, Abnormal urinary electrolyte ... |
ORPHA:199343 |
Riboflavin Deficiency |
|
Dicarboxylic aciduria |
OMIM:615026 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Polydipsia, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular filtr... |
ORPHA:18 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency, Hyperchlo... |
OMIM:613090 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria |
OMIM:617184 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:210550 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Polyuria, Hypercalciuria |
OMIM:300971 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... |
OMIM:602522 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Polydipsia, Neph... |
ORPHA:47159 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Hypoglycemia, Proximal tu... |
OMIM:231680 |
Tyrosinemia, Type Iii |
|
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria |
OMIM:276710 |
Canavan Disease |
|
Elevated urinary N-acetylaspartic acid level |
OMIM:271900 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria |
OMIM:249270 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insuffic... |
ORPHA:223 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage 5 chronic kid... |
ORPHA:329918 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria |
OMIM:227810 |
Hyperprolinemia Type 2 |
|
Prolinuria, Dysphagia, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Rena... |
ORPHA:79101 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
OMIM:220110 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Polydipsia, Abnormal tubulo... |
ORPHA:411629 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... |
OMIM:174000 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal glom... |
ORPHA:567548 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
ORPHA:436271 |
Pancreatic Cancer |
|
Increased level of L-fucose in urine |
OMIM:260350 |
Hypotonia-Cystinuria Syndrome |
|
Cystinuria, Polyphagia, Nephrolithiasis |
OMIM:606407 |
Gitelman Syndrome |
|
Polydipsia, Salt craving, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, R... |
OMIM:263800 |
Central Diabetes Insipidus |
|
Nocturia, Polydipsia |
ORPHA:178029 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency |
OMIM:204690 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Renal insufficiency, Polyphagia |
OMIM:615986 |
Hawkinsinuria |
|
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria |
OMIM:140350 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... |
ORPHA:812 |
Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Renal insufficiency, Polydipsia, Nephrocalcinosis |
ORPHA:320 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Maturity-onset diabetes of the young, Glucose intolerance, Impaire... |
OMIM:137920 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic aciduria |
OMIM:612073 |
Isovaleric Acidemia |
|
Hyperglycinuria |
OMIM:243500 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Bruck Syndrome 2 |
|
Hydroxyprolinuria |
OMIM:609220 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased serum creatinine |
OMIM:300539 |
Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Dysphagia, Generalized aminoaciduria, Polydipsia, Nephrolithiasis, Glycos... |
OMIM:219800 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Acute tubulointerstitial... |
OMIM:607665 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria |
OMIM:560000 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... |
ORPHA:2298 |
Tyrosinemia, Type Ii |
|
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia |
OMIM:276600 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria, Polydipsia |
ORPHA:251274 |
Netherton Syndrome |
|
Ectopic kidney, Aminoaciduria, Hydronephrosis |
ORPHA:634 |
Hartnup Disease |
|
Neutral hyperaminoaciduria, Abnormal urinary color |
ORPHA:2116 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Prote... |
ORPHA:275555 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthinuria, Increased urinary thiosulfate, Absent urinary urothione, Decreased urinary urate, In... |
OMIM:252150 |
D-Glyceric Aciduria |
|
Hyperglycinuria |
ORPHA:941 |
Citrullinemia, Type Ii, Adult-Onset |
|
Argininosuccinic aciduria |
OMIM:603471 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:614857 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria |
OMIM:602080 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium |
ORPHA:231580 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninuria, Methylmalonic aciduria, Homocystinuria, Hematuria, Hemolytic-uremic syndrome, N... |
OMIM:277400 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloridur... |
OMIM:241200 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Methylmalonic aciduria, Ketonuria |
OMIM:251120 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... |
OMIM:613095 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Renal tubular dysfunction, Hyperglycemia, Glycosuria, Abnormality of the up... |
ORPHA:99885 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:277410 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Cystathioninuria, Methylmalonic aciduria |
OMIM:277380 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Organic aciduria, Ketonuria |
OMIM:210210 |
Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Proximal renal tu... |
OMIM:229600 |
Fumarase Deficiency |
|
Aminoaciduria |
OMIM:606812 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Bartter Syndrome, Type 1, Antenatal |
|
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... |
OMIM:601678 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Nephrocalcinosis |
OMIM:616084 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria |
ORPHA:6 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Renal cyst, ... |
ORPHA:730 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria |
OMIM:619063 |
Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthinuria, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine |
OMIM:252160 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine |
OMIM:615501 |
Seckel Syndrome 10 |
|
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Glycosuria, Diabetes mellitus |
OMIM:617253 |
Propionic Acidemia |
|
Organic aciduria |
ORPHA:35 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria |
ORPHA:35706 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Tubulointerstitial nephritis |
OMIM:124000 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria |
OMIM:251880 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentra... |
OMIM:602088 |
Myasthenia Gravis |
|
Glycosuria |
ORPHA:589 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
OMIM:207900 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car... |
ORPHA:93111 |
D-Lactic Aciduria With Gout |
|
Lacticaciduria |
OMIM:245450 |
Kanzaki Disease |
|
Aminoaciduria, Increased urinary O-linked sialopeptides |
OMIM:609242 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria |
OMIM:239000 |
Hypouricemia, Renal, 1 |
|
Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, Increased urin... |
OMIM:220150 |
Leigh Syndrome |
|
Ethylmalonic aciduria, Dysphagia, Generalized aminoaciduria, Renal tubular dysfunction, Methylmal... |
ORPHA:506 |
Argininemia |
|
Oroticaciduria, Diaminoaciduria |
OMIM:207800 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Polydipsia |
ORPHA:369929 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria |
OMIM:264700 |
Genetic Recurrent Myoglobinuria |
|
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... |
ORPHA:99845 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Acute kidney injury, Elevated circulating creatinine concentration, Hemolytic-uremic synd... |
OMIM:235400 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria |
OMIM:619003 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria |
OMIM:214100 |
Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Hyperglycinuria |
OMIM:606054 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... |
ORPHA:99880 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Methioninuria, Homocystinuria |
OMIM:236200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria |
OMIM:619055 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output |
ORPHA:542323 |
Alkaptonuria |
|
Aminoaciduria, Nephrolithiasis |
ORPHA:56 |
Parathyroid Carcinoma |
|
Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... |
ORPHA:143 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Primary Hyperoxaluria Type 2 |
|
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... |
ORPHA:93599 |
Hyperlysinemia |
|
Dysphagia, Argininuria, Cystinuria, Hyperlysinuria, Decreased urine alpha-ketoglutarate concentra... |
ORPHA:2203 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria |
OMIM:615486 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Renal dysplasia, Polyuria |
OMIM:618183 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease |
OMIM:222700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria |
ORPHA:289157 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Renal Fanconi syndrome, Hemoglobinuria, Glycosuria, Acute kidney injury, Chronic kidney disease, ... |
ORPHA:447 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Sterile pyuria... |
ORPHA:91500 |
Wolfram Syndrome |
|
Polydipsia, Abnormality of the urinary system, Dysuria, Recurrent urinary tract infections, Nephr... |
ORPHA:3463 |
X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Galactosuria, Organic aciduria |
ORPHA:85276 |
Panhypophysitis |
|
Hyposthenuria, Polydipsia |
ORPHA:95513 |
Lowe Oculocerebrorenal Syndrome |
|
Hyperphosphaturia, Renal Fanconi syndrome, Proximal renal tubular acidosis, Aminoaciduria, Protei... |
OMIM:309000 |
Richards-Rundle Syndrome |
|
Ketonuria |
ORPHA:1399 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... |
OMIM:274150 |
Pearson Syndrome |
|
Lacticaciduria, Renal cyst, Glycosuria, Diabetes mellitus, Proteinuria, Renal insufficiency |
ORPHA:699 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Glutaric aciduria, Increased level of hippuric acid in urine, 3-Methylglutaric aciduria, Organic ... |
OMIM:246450 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Ornithinuria, Decreased glomerular filtration rate,... |
ORPHA:470 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Elevated circulating creatinine concentratio... |
ORPHA:93126 |
Nephrolithiasis, Calcium Oxalate |
|
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... |
OMIM:167030 |
Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Polydip... |
ORPHA:358 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Polydipsia, Dysuria, Abnormality of the urethra, Renal insufficiency |
ORPHA:537 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Scorpion Envenomation |
|
Hyperglycemia, Acute kidney injury, Glycosuria, Ketonuria |
ORPHA:466677 |
Hemorrhagic Fever-Renal Syndrome |
|
Decreased urine output, Tubulointerstitial nephritis, Anuria, Elevated circulating creatinine con... |
ORPHA:340 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
Erdheim-Chester Disease |
|
Hydronephrosis, Dysuria, Renal insufficiency, Polydipsia |
ORPHA:35687 |
Duplication Of Urethra |
|
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Dysuria, C... |
ORPHA:237 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria |
OMIM:619053 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Diffuse Cutaneous Systemic Sclerosis |
|
Oliguria, Renal insufficiency, Dysphagia |
ORPHA:220393 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... |
OMIM:211900 |
Pediatric-Onset Graves Disease |
|
Polydipsia, Polyphagia |
ORPHA:525731 |
Oculocerebrorenal Syndrome Of Lowe |
|
Nephrocalcinosis, Hematuria, Nephrolithiasis, Proximal renal tubular acidosis, Oligosacchariduria... |
ORPHA:534 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Acute kidney inju... |
ORPHA:731 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ethylmalonic aciduria, Dicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, ... |
OMIM:619355 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria |
ORPHA:395 |
Lassa Fever |
|
Oliguria, Dysphagia |
ORPHA:99824 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketonuria |
OMIM:615751 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Oliguria, Dicarboxylic aciduria |
ORPHA:159 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Pearson Marrow-Pancreas Syndrome |
|
Renal Fanconi syndrome, Complex organic aciduria, 3-Methylglutaric aciduria |
OMIM:557000 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Glycosuria, Fastin... |
ORPHA:79474 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Elevated circulating creatinine concentration, Hemoglobinuria |
ORPHA:90038 |
Microscopic Polyangiitis |
|
Glomerulopathy, Hematuria, Renal insufficiency, Oliguria |
ORPHA:727 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Ketonuria |
OMIM:261680 |
Zttk Syndrome |
|
Horseshoe kidney, Polyuria, Unilateral renal agenesis |
OMIM:617140 |
Primary Hyperoxaluria |
|
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... |
ORPHA:416 |
Xeroderma Pigmentosum |
|
Aminoaciduria |
ORPHA:910 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Ureteral duplication, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Rabson-Mendenhall Syndrome |
|
Polydipsia, Long penis, Nephrocalcinosis |
ORPHA:769 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria |
OMIM:210200 |
Glutaric Acidemia I |
|
Glutaric aciduria, Ketonuria |
OMIM:231670 |
Richards-Rundle Syndrome |
|
Ketonuria |
OMIM:245100 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Impaired oral bolus formation, Generalized aminoaciduria, Impaired oropharyngeal swallow response |
ORPHA:404454 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria |
ORPHA:514 |
Whipple Disease |
|
Polydipsia |
ORPHA:3452 |
Cholera |
|
Abnormality of renal excretion, Acute kidney injury, Decreased urine output |
ORPHA:173 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithelial necrosis, ... |
ORPHA:31826 |
Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Abnormal drinking behavior, Megacystis, Abnormal eating behavior, Vesicoureteral reflux |
ORPHA:209905 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Lacticaciduria |
OMIM:619167 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic aciduria, Ketonuria |
OMIM:251110 |
Lujo Hemorrhagic Fever |
|
Microscopic hematuria, Renal insufficiency, Dysphagia, Oliguria |
ORPHA:319213 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic aciduria, Ketonuria |
OMIM:251100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis |
OMIM:619351 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
Infection-Related Hemolytic Uremic Syndrome |
|
Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephrotic range proteinuria |
ORPHA:544482 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Renal phosphate wasting, Hyperphosphaturia |
ORPHA:289176 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ethylmalonic aciduria, 3-Methylglutaconic aciduria, Aciduria |
OMIM:203700 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Enuresis, Polydipsia, Polyphagia |
ORPHA:293987 |
Colchicine Poisoning |
|
Oliguria, Renal insufficiency |
ORPHA:31824 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Ketonuria |
ORPHA:134 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Oral-pharyngeal dysphagia, Myoglobinuria, Ketonuria |
OMIM:616878 |
Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure |
ORPHA:90051 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Dysphagia, Ketonuria |
ORPHA:480864 |
Yellow Fever |
|
Anuria, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency |
ORPHA:99829 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria |
ORPHA:93 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria |
OMIM:208400 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic aciduria, Hemolytic-uremic syndrome, Glomerulopathy, Renal insufficiency, Ketonuria |
ORPHA:79282 |
Citrullinemia, Classic |
|
Oroticaciduria |
OMIM:215700 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Ketonuria |
ORPHA:20 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Increased urinary glycerol, Ketonuria |
ORPHA:247598 |
Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria |
ORPHA:466650 |