| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
| Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
| Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
| Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239510 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
| Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria |
OMIM:268700 |
| Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
| Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
ORPHA:42062 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Threoninemia |
|
Hyperthreoninuria |
OMIM:273770 |
| Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
| Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
| Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
| 5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
| Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinuria |
OMIM:238750 |
| Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
| Muscular Dystrophy, Cardiac Type |
|
Carnosinuria |
OMIM:309930 |
| Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
| Gracile Syndrome |
|
Aminoaciduria |
OMIM:603358 |
| Galactosemia Iii |
|
Aminoaciduria, Galactosuria |
OMIM:230350 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level |
OMIM:605850 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria |
ORPHA:664 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Aminoaciduria, Lacticaciduria |
OMIM:619386 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
| Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy |
OMIM:613404 |
| Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
ORPHA:23 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria |
ORPHA:1933 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent... |
ORPHA:411634 |
| Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy |
ORPHA:213 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
| Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria |
ORPHA:414 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor... |
OMIM:208085 |
| Hyperparathyroidism, Neonatal Severe |
|
Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria |
OMIM:239200 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
| Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... |
OMIM:219800 |
| Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... |
OMIM:277900 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e... |
ORPHA:91500 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease, Hyperlysinuria |
OMIM:222700 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
OMIM:207900 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
| Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
| X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
