| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalc... |
OMIM:616963 |
| Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Para... |
ORPHA:2197 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive, Nephrolithiasis,... |
OMIM:143880 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Renal Glucosuria |
|
Polyphagia, Enuresis nocturna, Glycosuria, Polydipsia, Polyuria |
OMIM:233100 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia |
OMIM:145980 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet... |
OMIM:308990 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Hypercalciuria, Failure to thrive, Renal tubular acidosis, Hypercalcemia |
OMIM:239199 |
| Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Periglomerular fibrosis, Polydipsia, Polyuri... |
OMIM:619468 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... |
OMIM:145981 |
| Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
| Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
| Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia |
OMIM:211000 |
| Bartter Syndrome, Type 3 |
|
Dehydration, Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level, Increased uri... |
OMIM:607364 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Nephrocalcinosis, Renal magnesium wasting, Episodic hypokalemia, Renal potassium wasting, Hypomag... |
ORPHA:564178 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypercalciuria, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyuria |
OMIM:222100 |
| Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Small Cell Carcinoma Of The Bladder |
|
Recurrent urinary tract infections, Hematuria, Hypercalcemia, Dysuria |
ORPHA:284400 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... |
OMIM:310468 |
| Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... |
OMIM:606966 |
| Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
| Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... |
OMIM:604387 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Nephrocalcinosis, Renal magnesium wasting, Hypokalemia, Renal potassium wasting, P... |
OMIM:618314 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Decreased glomerular filtration rate, Increased circulating renin level, Hyperp... |
OMIM:601198 |
| Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
| Helix Syndrome |
|
Renal insufficiency, Xerostomia, Hypokalemia, Hypermagnesemia, Hypocalciuria, Polydipsia, Nephrol... |
OMIM:617671 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Enuresis, Increased circulating renin level, Hypokalemia, Hypocalciuria, Renal sodium wasting, Sa... |
OMIM:612780 |
| Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
| Hypomagnesemia 6, Renal |
|
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia |
OMIM:613882 |
| Dent Disease 2 |
|
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating creatine kinase ... |
OMIM:300555 |
| Hyperprolinemia Type 1 |
|
Hyperprolinemia, Proteinuria, Nephropathy, Prolinuria |
ORPHA:419 |
| Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Renal insufficiency, Hypermagnesemia, Hypocalciuria, Multiple small medullary r... |
OMIM:600740 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia |
OMIM:612286 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Hypokalemia, Hypocalcemia, Polyuria, Hyponatremia, Hypomagnesemia |
OMIM:620152 |
| Senior-Loken Syndrome 3 |
|
Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polydip... |
OMIM:606995 |
| Interstitial Nephritis, Karyomegalic |
|
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... |
OMIM:614817 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia |
ORPHA:2668 |
| Senior-Loken Syndrome 1 |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,... |
OMIM:266900 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Nephrocalcinosis, Hypocalcemic seizures, Hypermagnesemia, Reduced ratio o... |
ORPHA:405 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Hypokalemia, Hypercalciuria, Failure to thrive, Distal renal tubular acidosis |
OMIM:602722 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Nephrocalcinosis, Renal insufficiency, Hypercalciuria, Hyperphosphaturia, Hyper... |
ORPHA:99879 |
| Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypochloremia, Increased circulating renin level, Polyhydramnios, Hypokalemia, Medullary nephroca... |
OMIM:300971 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Renal magnesium wasting, Hy... |
OMIM:248250 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular ... |
OMIM:602522 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Hypercalciuria, Polydipsia, Polyuria, Decreased circulating renin level |
OMIM:613677 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Po... |
ORPHA:2704 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Hypercalciuria, Medullary nephrocalcinosis |
OMIM:617993 |
| Threoninemia |
|
Hyperthreoninemia, Hyperthreoninuria |
OMIM:273770 |
| Hyperprolinemia, Type Ii |
|
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:239510 |
| Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
| Iminoglycinuria |
|
Hydroxyprolinemia, Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinemia, Hyperglycinuria |
ORPHA:42062 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Increased ... |
OMIM:613090 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney disease, Hypermagnesemia, ... |
ORPHA:94059 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Nephrolithiasis, Hematuria, Hypernatremia, Hypercalcemia,... |
ORPHA:35710 |
| Gitelman Syndrome |
|
Enuresis, Increased circulating renin level, Renal magnesium wasting, Hypokalemia, Hypocalciuria,... |
OMIM:263800 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Edema, Reduced renal corticomedullary differentiatio... |
OMIM:603278 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613550 |
| Cystinuria |
|
Recurrent urinary tract infections, Hyperlysinuria, Renal insufficiency, Argininuria, Ornithinuri... |
OMIM:220100 |
| Dibasic Amino Aciduria I |
|
Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria |
OMIM:222690 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Nephrocalcinosis, Chronic kidney disease, Renal magnesium was... |
OMIM:248190 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613824 |
| East Syndrome |
|
Enuresis, Increased circulating renin level, Renal magnesium wasting, Abnormal urinary electrolyt... |
ORPHA:199343 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal physiology, Chronic kidney disease, Decreased glomerular filt... |
ORPHA:94088 |
| Saccharopinuria |
|
Hyperlysinuria, Histidinuria, Saccharopinuria, Elevated circulating sacchoropine concentration, C... |
OMIM:268700 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti... |
OMIM:617610 |
| Fanconi Renotubular Syndrome 2 |
|
Proteinuria, Hypophosphatemia, Decreased glomerular filtration rate, Glycosuria, Renal phosphate ... |
OMIM:613388 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal insufficiency, Hypokalemia, Renal sodium wasting, Polydipsia, Abnormal ur... |
ORPHA:320 |
| Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:242600 |
| Blue Diaper Syndrome |
|
Blue urine, Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Hypercalcemia |
ORPHA:94086 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hypernatremia, Hydroureter, Renal insufficiency, Functional abnormality of the... |
ORPHA:223 |
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder, Alpha-aminoadipic aciduria |
OMIM:204750 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Megacystis, Polydipsia, Hypertonic dehydration, Polyuria |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Megacystis, Polydipsia, Hypertonic dehydration, Polyuria |
OMIM:304800 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Central Diabetes Insipidus |
|
Nocturia, Polydipsia, Dehydration, Hyponatremia |
ORPHA:178029 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Hyperuricemia, Chronic kidney disease, Increased blood urea nitrogen, Failure to thr... |
OMIM:613845 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Renal salt wasting, Hypospadias |
OMIM:201710 |
| Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Dehydration, Stage 5 chronic kidney disease, Decreased glomer... |
ORPHA:2260 |
| Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... |
OMIM:614723 |
| Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria |
ORPHA:95626 |
| Enamel-Renal Syndrome |
|
Enuresis, Nephrocalcinosis, Renal insufficiency, Nephropathy, Hypocalciuria, Hypophosphaturia, Im... |
ORPHA:1031 |
| Coach Syndrome 3 |
|
Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:619113 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Calcinosis, Hypercalciuria, Polydipsia, Aminoaciduria, Polyuria, Hyperphosphatu... |
OMIM:239200 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency |
OMIM:611771 |
| Cystinosis |
|
Proteinuria, Dehydration, Hypophosphatemia, Renal insufficiency, Nephropathy, Hypokalemia, Renal ... |
ORPHA:213 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
| Primary Fanconi Renotubular Syndrome |
|
Proximal renal tubular acidosis, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney... |
ORPHA:3337 |
| Dicarboxylic Aminoaciduria |
|
Nephrolithiasis, Aspartic aciduria, Aminoaciduria |
OMIM:222730 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Micropenis, Hypercalcemia, Hypercalciuria |
OMIM:614732 |
| Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
| Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Hyper-Beta-Alaninemia |
|
Hyperbeta-alaninemia, Increased urinary taurine |
OMIM:237400 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Hyperglycinuria |
|
Calcium oxalate nephrolithiasis, Hyperglycinuria |
OMIM:138500 |
| Rhabdoid Tumor |
|
Renal neoplasm, Hematuria, Hypercalcemia, Weight loss |
ORPHA:69077 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Hypouricemia, Hypokalemia, Proximal tubulopathy, Proteinuria, Chronic ki... |
ORPHA:411634 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Chronic kidney disea... |
ORPHA:84081 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Hyperlysinuria |
OMIM:238700 |
| Senior-Loken Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease |
ORPHA:3156 |
| Dent Disease 1 |
|
Microscopic hematuria, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphat... |
OMIM:300009 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Nephronophthisis 18 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened gl... |
OMIM:615862 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Polycystic kidney dysplasia, Renal cortical adenoma, Papillary renal cell carcinoma, Nephrolithia... |
OMIM:145001 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate, Ami... |
OMIM:603358 |
| Diaminopentanuria |
|
Cystinuria, Hyperlysinuria |
OMIM:222350 |
| Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:239500 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Renal hypoplasia/aplasia, Hypercalcemia |
ORPHA:2123 |
| Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency... |
OMIM:615382 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Proteinuria, Acute kidney injury, Abnormal circulating lipid concentration, Diffuse mesangial scl... |
ORPHA:567548 |
| Bartter Syndrome, Type 1, Antenatal |
|
Small for gestational age, Hypochloremia, Nephrocalcinosis, Hyperchloriduria, Increased circulati... |
OMIM:601678 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... |
ORPHA:157215 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Hypouricemia, Renal... |
OMIM:220150 |
| Dent Disease |
|
Renal hypophosphatemia, Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney dise... |
ORPHA:1652 |
| Distal Renal Tubular Acidosis |
|
Hypocitraturia, Dehydration, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesi... |
ORPHA:18 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Urinary retention, Uric aci... |
ORPHA:976 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Renal insufficiency |
OMIM:615986 |
| Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
| Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium, Decreased circulating renin level, Polydipsia, Hypokalemia |
ORPHA:231580 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia, Hypercalciuria |
ORPHA:251274 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Non-Functioning Paraganglioma |
|
Elevated urinary epinephrine, Elevated urinary dopamine, Elevated urinary norepinephrine, Hematur... |
ORPHA:94080 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Renal insuff... |
OMIM:300554 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypophosphatemia, Dehyd... |
ORPHA:411629 |
| Bartter Syndrome Type 4 |
|
Small for gestational age, Acute kidney injury, Hypochloremia, Nephrocalcinosis, Chronic kidney d... |
ORPHA:89938 |
| 5-Oxoprolinase Deficiency |
|
Calcium oxalate nephrolithiasis, Prolinuria, Increased level of L-pyroglutamic acid in urine |
OMIM:260005 |
| Proximal Renal Tubular Acidosis |
|
Dehydration, Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Hypok... |
ORPHA:47159 |
| Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Hartnup Disorder |
|
Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Fanconi-Bickel Syndrome |
|
Proteinuria, Hypophosphatemia, Glycosuria, Beta 2-microglobulinuria, Hypouricemia, Hypergalactose... |
OMIM:227810 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis... |
OMIM:179800 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Aminoaciduria |
ORPHA:147 |
| Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Hyperhomocystinemia, Homocystinuria |
OMIM:236250 |
| Bartter Syndrome, Type 2, Antenatal |
|
Dehydration, Hypochloremia, Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level... |
OMIM:241200 |
| Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Micropenis, Renal cyst, Polydipsia, Polyuria |
OMIM:615994 |
| 2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemia, Renal phosphate wasting, Abnormal circulating calcium concentration, Renal tubu... |
OMIM:241530 |
| Valinemia |
|
Hypervalinemia, Valinuria |
OMIM:277100 |
| Glutamate Formiminotransferase Deficiency |
|
Elevated urinary formiminoglutamic acid level, Positive ferric chloride test, Aminoaciduria |
OMIM:229100 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Nephrocalcinosis, Glycosuria, Nephropathy, Hypercalciuria, Failure to thrive, H... |
ORPHA:2088 |
| Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis, Cystathioninemia |
ORPHA:212 |
| Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Renal insufficiency, Hypermagnesemia |
ORPHA:469 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Hyperechogenic kidneys, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:616217 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Chronic kidney disease, Exercise-induced myoglobinuria, Elevated creatine ki... |
ORPHA:284426 |
| Focal Segmental Glomerulosclerosis 8 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Nephrocalcinosis, Hypermagnesiuria, Hyperprostaglandinuria, Hypercalciuria, ... |
ORPHA:73224 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Nephrocalcinosis, Phosphoethanolaminuria, Hypercalciuria, Failure ... |
OMIM:241500 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Galactosemia Iii |
|
Galactosuria, Hypergalactosemia, Aminoaciduria |
OMIM:230350 |
| Oculoskeletodental Syndrome |
|
Mucopolysacchariduria, Small for gestational age, Hypercalciuria, Hypocalcemia, Renal agenesis, H... |
OMIM:618440 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Nephrotic Syndrome, Type 18 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:301028 |
| Amelogenesis Imperfecta, Type Ig |
|
Enuresis, Nephrocalcinosis, Renal insufficiency, Polyuria, Impaired renal concentrating ability |
OMIM:204690 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets, Renal phosphate wasting |
OMIM:612089 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Incr... |
OMIM:612925 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting |
OMIM:612287 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
| Hypophosphatemic Rickets |
|
Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Renal insufficiency, Hypercalciuria,... |
ORPHA:437 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612926 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... |
OMIM:174000 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine, Hypercalcemia |
OMIM:171420 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612924 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Edema, Nephrotic syndrome, He... |
OMIM:614131 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
| Gitelman Syndrome |
|
Enuresis, Proteinuria, Tubulointerstitial nephritis, Decreased urinary potassium, Renal Fanconi s... |
ORPHA:358 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hy... |
OMIM:603860 |
| Jeune Syndrome |
|
Renal insufficiency, Nephropathy, Nephronophthisis |
ORPHA:474 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating renin level, Hyperkalemia, Failure to thrive, Renal salt wasting, Hyponatremia |
OMIM:610600 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinemia, Hyperammonemia, Hyperlysinuria |
OMIM:238750 |
| Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting, Increased circulating renin level |
OMIM:619406 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased serum creatinine, Reduced blood urea nitrogen, Hyponatremia, Hyposthenu... |
OMIM:300539 |
| Cystinosis, Nephropathic |
|
Hypokalemia, Reduced blood urea nitrogen, Hypomagnesemia, Proteinuria, Renal Fanconi syndrome, Ne... |
OMIM:219800 |
| Arima Syndrome |
|
Polycystic kidney dysplasia, Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, ... |
OMIM:243910 |
| Nephrotic Syndrome, Type 16 |
|
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Increased circulating renin level, Hyperkalemia, Failure to thrive, Renal salt wasting, Hyponatremia |
OMIM:203400 |
| Argininemia |
|
Hyperammonemia, Diaminoaciduria |
ORPHA:90 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH ad... |
ORPHA:94090 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Hyperglycinuria, Hyperglycinemia, Impulsivity |
OMIM:605899 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Polyuria, Proximal tubulopathy |
OMIM:560000 |
| Glucoglycinuria |
|
Glycosuria, Hyperglycinuria |
OMIM:138070 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Glycosuria, Renal insufficiency, Hypokalemia, Renal tubular dysfunction, Impair... |
OMIM:134600 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Nephrocalcinosis |
OMIM:146200 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias |
OMIM:201910 |
| Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
OMIM:615605 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Nephrocalcinosis, Hypercalciuria, Hyperphosphaturia, Hypercalcemia |
OMIM:156400 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary norepinephrine,... |
ORPHA:276621 |
| Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... |
OMIM:256020 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria |
OMIM:615158 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal hamartoma, Hypophosphatemia, Nephrocalcinosis, Renal cyst, Renal insufficiency, Hypercalciu... |
ORPHA:99880 |
| Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Elevated circulating creatine kinase concentration |
OMIM:309930 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Hyperuricemia, Horseshoe kidney, Renal... |
ORPHA:93111 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis |
OMIM:616629 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Renal interstitial amyloid deposits, Chronic kidney disease, Renal amyloidosis, Hype... |
ORPHA:439232 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
| Parathyroid Carcinoma |
|
Renal hamartoma, Hypophosphatemia, Nephrocalcinosis, Renal cyst, Renal insufficiency, Hypercalciu... |
ORPHA:143 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... |
OMIM:605850 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Enlarged kidney, Macroscopic hematuria, Increased blood urea nitrogen, Membranoproli... |
ORPHA:251004 |
| Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Glycosuria, Chronic kidney disease, Beta 2-microglobulinuria,... |
ORPHA:97362 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperuricemia, Hydroxyprolinemia, Hyperphosphatemia, Increased urine deoxypyridinoline level, Hyp... |
OMIM:239000 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Nephrolithiasis, Hypokalemia |
ORPHA:369929 |
| Saccharopinuria |
|
Hyperammonemia, Hyperlysinuria, Elevated plasma citrulline, Citrullinuria, Hypercystinemia, Abnor... |
ORPHA:3124 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Abnormal renal corticomedullary differentiation, Oligohydramnios, Elevated circu... |
OMIM:616733 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypermagnesiuria, Hyperphosphatemia, Hypercalciuria, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
| Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613159 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Anasarca, Polyhydramnios, Renal dysplasia, Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Pe... |
OMIM:618183 |
| Colchicine Poisoning |
|
Abnormal blood ion concentration, Hypophosphatemia, Renal insufficiency, Hypokalemia, Hypocalcemi... |
ORPHA:31824 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst |
OMIM:611560 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Calcium nephrolithiasis, Weight loss |
ORPHA:97289 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration, Renal salt wasting, Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia |
ORPHA:436 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... |
ORPHA:730 |
| Methionine Malabsorption Syndrome |
|
Positive ferric chloride test, Aminoaciduria |
OMIM:250900 |
| Genetic Recurrent Myoglobinuria |
|
Recurrent myoglobinuria, Acute kidney injury, Exercise-induced myoglobinuria, Renal insufficiency... |
ORPHA:99845 |
| Primary Hyperoxaluria |
|
Calcium oxalate nephrolithiasis, Aciduria, Nephrocalcinosis, Chronic kidney disease, Hyperoxaluri... |
ORPHA:416 |
| Xanthinuria, Type Ii |
|
Hypouricemia, Renal insufficiency, Increased urinary hypoxanthine, Nephrolithiasis, Increased cir... |
OMIM:603592 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Hypophosphatemic ricke... |
OMIM:618913 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Enuresis, Hypophosphatemia, Renal Fanconi syndrome, Elevated circulating creatine kinase concentr... |
OMIM:619743 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets, Renal phosphate wasting |
OMIM:193100 |
| X-Linked Hypophosphatemia |
|
Hypocalciuria, Hypophosphatemia, Renal phosphate wasting |
ORPHA:89936 |
| Multiple Myeloma |
|
Acute kidney injury, Hyperproteinemia, Nephropathy, Abnormality of the bladder, Nephrotic syndrom... |
ORPHA:29073 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine succinate level, Increased urine alpha-ketoglutarate concentration, Elevated urin... |
OMIM:618384 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypophosphatemia, Hypocalcemia, Hypoalbuminemia, Weight loss, Hypomagnesemia |
ORPHA:398063 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Renal cell carcinoma, Elevated urinary epinephrine, Glomerular sclerosis, Elevated u... |
ORPHA:29072 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Nephrocalcinosis, Hypercalcemia |
ORPHA:557003 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Nephronophthisis, Glomerular subepithelial immune-complex deposits, St... |
OMIM:616307 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Cachexia, Hypokalemia, Hypomagnesemia |
OMIM:175500 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased circulating renin level, Hypokalemia, Abnormal magnesium concentration, Increased serum... |
OMIM:241150 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hyperalaninemia, Elevated circulating creatine kinase concentration, Aminoac... |
OMIM:619386 |
| Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormal renal physiology, Nephrocalcinosis, Hematuria, Dysuria,... |
ORPHA:93600 |
| Acute Adrenal Insufficiency |
|
Increased circulating renin level, Hyperuricemia, Decreased urinary potassium, Renal insufficienc... |
ORPHA:95409 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypophosphaturia, Impulsivity, Attention deficit hyperactivity disorder, Hypocalciuria |
ORPHA:73223 |
| Pheochromocytoma |
|
Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis, Hypercalcemia |
OMIM:171300 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Proximal tubulopathy, Aminoaciduria, Weight loss |
OMIM:612075 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Edema, Focal segmental glomerulosclerosis, Nephrotic... |
OMIM:614196 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Nephrotic Syndrome, Type 3 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Edema, Nephrotic syndro... |
OMIM:610725 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Aminoaciduria |
ORPHA:664 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Renal salt wasting, Hyponatremia, Failure to thrive |
OMIM:614736 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Failure to thrive |
ORPHA:172 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Failure to thrive, Nephrolithiasis, Hypocalcemia, Cystinuria |
OMIM:606407 |
| Rhyns Syndrome |
|
Renal insufficiency, Nephronophthisis, Chronic kidney disease |
OMIM:602152 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis |
OMIM:613312 |
| Panhypophysitis |
|
Polydipsia, Hyposthenuria, Hyponatremia |
ORPHA:95513 |
| Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C... |
OMIM:120330 |
| Infantile Myofibromatosis |
|
Abnormality of the kidney, Hypercalcemia |
ORPHA:2591 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Orthostatic Hypotension 1 |
|
Nocturia, Increased blood urea nitrogen, Hypomagnesemia |
OMIM:223360 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Nephrocalcinosis, Renal cyst, Hydroureter, Hypercalciuria, Large for gestation... |
OMIM:615398 |
| Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Hyperkalemia, Renal sodium wasting, Failure to thrive, Hyponat... |
ORPHA:556037 |
| Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Oligohydramnios |
OMIM:267430 |
| Thyrotoxic Periodic Paralysis |
|
Urinary retention, Decreased urinary potassium, Obesity, Transient hypophosphatemia, Hyperkalemia... |
ORPHA:79102 |
| Familial Cold Urticaria |
|
Polydipsia, Dehydration |
ORPHA:47045 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Nephropathy, Weight loss |
ORPHA:85447 |
| Familial Isolated Hypoparathyroidism |
|
Nephropathy, Hypocalcemia |
ORPHA:2238 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Chronic kidney disease |
OMIM:615630 |
| Galactosemia I |
|
Galactosuria, Hypergalactosemia, Albuminuria, Increased level of galactitol in plasma, Increased ... |
OMIM:230400 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Hypokalemia |
ORPHA:403 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Proteinuria, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Hypouricemia, Aminoaciduria, Hyperph... |
OMIM:616026 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Dehydration, Nephrocalcinosis, Reduced renal corticomedullary differentiat... |
OMIM:208085 |
| Argininosuccinic Aciduria |
|
Oroticaciduria, Hyperammonemia, Hypoargininemia, Hyperglutaminemia, Aminoaciduria |
ORPHA:23 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Joint swelling, Renal insufficiency, Polydipsia, Dysuria, Pleural effusion |
ORPHA:35687 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
| Wolfram Syndrome |
|
Recurrent urinary tract infections, Nephropathy, Polydipsia, Dysuria, Abnormality of the urinary ... |
ORPHA:3463 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration, Increased circulating renin level, Hyperkalemia, Renal sodium wasting, Hyponatremia |
ORPHA:556030 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Renal hypoplasia/aplasia, Cachexia |
ORPHA:1438 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased urinary potassium, Hypokalemia |
OMIM:611489 |
| Carcinoma Of Esophagus |
|
Weight loss, Obesity |
ORPHA:70482 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Acute kidney injury, Stage 5 chr... |
ORPHA:731 |
| Familial Hypoaldosteronism |
|
Proximal renal tubular acidosis, Increased circulating renin level, Decreased urinary potassium, ... |
ORPHA:427 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoalbuminemia |
ORPHA:90362 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminuria, Hyperglutaminemia, Increased total bilirubin, Hyperprolinemia, Alaninuria, Lac... |
OMIM:616299 |
| Wilson Disease |
|
Proteinuria, Glycosuria, Edema, Hypouricemia, Increased circulating copper concentration, Renal t... |
OMIM:277900 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Renal tubular atrophy, Proteinuria, Renal... |
ORPHA:85450 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Dehydration, Enla... |
OMIM:263200 |
| Glutathionuria |
|
Urinary incontinence, Glutathionuria |
OMIM:231950 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien... |
ORPHA:411536 |
| Neuroleptic Malignant Syndrome |
|
Proteinuria, Acute kidney injury, Hyperuricemia, Urinary incontinence, Hyperphosphatemia, Elevate... |
ORPHA:94093 |
| Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Hypocalce... |
OMIM:612462 |
| Coach Syndrome 1 |
|
Stage 5 chronic kidney disease, Renal cyst, Unilateral renal agenesis, Nephronophthisis, Multiple... |
OMIM:216360 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysphagia, Abnormality of the urethra, Polydipsia, Dysuria |
ORPHA:537 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Hypoplasia of penis |
ORPHA:3157 |
| Familial Expansile Osteolysis |
|
Hydroxyprolinuria |
OMIM:174810 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Renal cyst, Congenital megaureter, Hypercalciuria, Renal dysplasia, Hypertrigly... |
ORPHA:369837 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Renal hypoplasia, Lacticaciduria |
OMIM:604273 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Aminoaciduria |
OMIM:609560 |
| Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
| Addison Disease |
|
Increased circulating renin level, Hyperuricemia, Decreased urinary potassium, Failure to thrive,... |
ORPHA:85138 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria |
ORPHA:2158 |
| Histidinemia |
|
Hyperhistidinemia, Hyperactivity, Histidinuria |
ORPHA:2157 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Tubulointerstitial nephritis, Failure to thrive in infancy, Dec... |
ORPHA:37042 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Glycosuria, Nephropathy, Conjugated hyperbilirubinemia, Aminoacidu... |
OMIM:613404 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany |
ORPHA:36913 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormality of medullary pyramid morphology, Increased serum pyruvate |
ORPHA:79243 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Complex organic aciduria, Renal Fanconi syndrome, Failure to thrive, H... |
OMIM:557000 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kidneys, Tubula... |
OMIM:219730 |
| Monosomy 13Q34 |
|
Fetal pyelectasis, Hypercalcemia, Obesity |
ORPHA:96168 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Renal insufficiency, Nephropathy, Hypocalcemia |
ORPHA:1563 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... |
OMIM:211900 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
| Diencephalic Syndrome |
|
Long penis, Decreased body weight, Cachexia |
ORPHA:1672 |
| Systemic Capillary Leak Syndrome |
|
Pleural effusion, Renal insufficiency, Pulmonary edema, Oliguria, Abnormal renal tubule morpholog... |
ORPHA:188 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia, Failure to thrive |
ORPHA:476126 |
| Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Increased C-peptide level, Hypokalemia, Polydipsia, Long penis |
ORPHA:769 |
| Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Aminoaciduria, Orotic acid crystalluria |
ORPHA:30 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hyperkalemia, Failure to thrive, Hyponatremia, Hypercalcemia, Weight loss |
ORPHA:199299 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary epinephrine, Hypercalciuria, Nephrolithiasis, Elevated urinary norepinephrine, E... |
ORPHA:653 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration, Renal salt wasting, Hyponatremia |
OMIM:300200 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Methylmalonic aciduria, Aminoaciduria |
ORPHA:1933 |
| Nephroblastoma |
|
Nephroblastoma, Hematuria, Weight loss |
ORPHA:654 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Renal insufficiency, Hematuria, Hyperoxaluria |
OMIM:260000 |
| Cholera |
|
Abnormal blood ion concentration, Acute kidney injury, Decreased urine output, Abnormality of ren... |
ORPHA:173 |
| Pediatric-Onset Graves Disease |
|
Polyphagia, Polydipsia, Hyperactivity, Oligohydramnios |
ORPHA:525731 |
| Whipple Disease |
|
Polydipsia, Hyponatremia, Pedal edema |
ORPHA:3452 |
| Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
| Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Primary Hyperoxaluria Type 2 |
|
Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, Renal insufficiency, ... |
ORPHA:93599 |
| Tryptophanuria With Dwarfism |
|
Tryptophanuria |
OMIM:276100 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Neuroblastoma, Susceptibility To, 1 |
|
Abnormality of urine catecholamine level, Failure to thrive, Elevated urinary homovanillic acid, ... |
OMIM:256700 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia, Renal phosphate wasting |
ORPHA:352540 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... |
OMIM:617641 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Proximal renal tubular acidosis, Proteinuria, Glomerulopathy, Nephrocalcinosis, Hypophosphatemia,... |
ORPHA:534 |
| Joubert Syndrome 5 |
|
Renal cortical cysts, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiat... |
OMIM:610188 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Pulmonary edema, Pleural effusio... |
ORPHA:542323 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hyperlipidemia, An... |
OMIM:235400 |
| Pearson Syndrome |
|
Proteinuria, Small for gestational age, Hypophosphatemia, Glycosuria, Renal cyst, Renal insuffici... |
ORPHA:699 |
| Duplication Of Urethra |
|
Recurrent urinary tract infections, Micropenis, Rectourethral fistula, Epispadias, Urinary incont... |
ORPHA:237 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Polyhydramnios, Reduced renal corticomedullary differentiation |
OMIM:618541 |
| Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemic seizures, Failure to thrive, Hypocalcemia, Generalized aminoaciduria |
OMIM:264700 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemia, Renal phosphate wasting, Abnormal circulating calcium concentration, Hypophosph... |
OMIM:307800 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Proteinuria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Aminoaciduria, Hyperp... |
ORPHA:436271 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dysphagia, Oliguria, Renal insufficiency, Xerostomia |
ORPHA:220393 |
| Ethylene Glycol Poisoning |
|
Decreased urine output, Alcoholism, Renal insufficiency, Renal tubular dysfunction, Hyperkalemia,... |
ORPHA:31826 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hyperammonemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Elevated... |
ORPHA:159 |
| Leprechaunism |
|
Nephrocalcinosis, Enlarged kidney, Increased circulating renin level, Hypokalemia, Hypercalciuria... |
ORPHA:508 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Lassa Fever |
|
Dysphagia, Oliguria, Facial edema |
ORPHA:99824 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Weight loss |
ORPHA:913 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Aminoaciduria |
OMIM:603585 |
| Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Abnormal renal corticomedullary differentiation, Ascites |
OMIM:617397 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Hyper... |
ORPHA:1578 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Organic aciduria, Weight loss |
ORPHA:79242 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hyperammonemia, Elevated plasma citrulline, Cerebral edema, Hypertriglyceridemia, Argininosuccini... |
OMIM:603471 |
| Hemorrhagic Fever-Renal Syndrome |
|
Proteinuria, Glomerulonephritis, Acute kidney injury, Decreased urine output, Chronic kidney dise... |
ORPHA:340 |
| Joubert Syndrome 2 |
|
Renal insufficiency, Nephronophthisis, Renal cyst |
OMIM:608091 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
| Gracile Bone Dysplasia |
|
Hypocalcemia, Micropenis, Failure to thrive |
OMIM:602361 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium, Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Renal dysplasia, Polyhydramnios, Nephrocalcinosis, Hypercalciuria |
OMIM:300990 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
| Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Hypernatriuria, Failure to thrive, Hyperkalemia, Renal salt w... |
ORPHA:361 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hyperactivity |
OMIM:620047 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hydronephrosis, Nephrocalcinosis, Calcinosis, Renal artery stenosis, Hypokalemia, Dysphagia, Hypo... |
OMIM:617913 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Proteinuria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Aminoaciduria, Hyperp... |
OMIM:220110 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Wild Type Attr Amyloidosis |
|
Proteinuria, Renal insufficiency, Nephropathy, Nephrotic syndrome, Weight loss |
ORPHA:330001 |
| Polyarteritis Nodosa |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria |
OMIM:249270 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Periorbital edema |
ORPHA:514 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid... |
OMIM:231680 |
| Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Hypo... |
ORPHA:2237 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Failure to thrive, Hypocalcemia, Generalized aminoaciduria |
ORPHA:289157 |
| Histidinemia |
|
Hyperhistidinemia, Histidinuria |
OMIM:235800 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH ad... |
ORPHA:94089 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Microscopic Polyangiitis |
|
Oliguria, Renal insufficiency, Glomerulopathy, Hematuria |
ORPHA:727 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia, Weight loss |
ORPHA:88673 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Enuresis, Polyphagia, Hyperkalemia, Hyperlipidemia, Polydipsia, Hyponatremia |
ORPHA:293987 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia, Weight loss, Failure to thrive |
ORPHA:47 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Increased urinary sulfite, Hypouricemia, Elevated urinary S-sulfocysteine level, Increased urinar... |
OMIM:252150 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Dehydration, Hypokalemia, Unconjugated hyperbilirubinemia, Anuria, Hyponatre... |
ORPHA:90038 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Elevated circulating alpha-fetoprotein concentration, Multiple renal cysts, Cong... |
ORPHA:116 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Nephropathy, Cachexia |
ORPHA:2774 |
| Netherton Syndrome |
|
Ectopic kidney, Hydronephrosis, Dehydration, Aminoaciduria |
ORPHA:634 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia, Failure to thrive |
OMIM:600081 |
| Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Dicarboxylic acidur... |
ORPHA:42 |
| Sialidosis Type 1 |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... |
ORPHA:812 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Hypokalemia, Failure to thrive, Increased serum bile acid concentration, Grade II ve... |
OMIM:619377 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Edema |
ORPHA:1054 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Elevated circulating creatinine concentration, Hematuria, Weight loss |
ORPHA:90060 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Acute kidney injury, Ureteropelvic junction obstruction, Renal insufficiency, Nep... |
ORPHA:49041 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Aminoaciduria |
OMIM:614520 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration, Penoscrotal hypospadias, Increased circulating renin level, Hyperkalemia, Renal salt... |
ORPHA:90791 |
| Majeed Syndrome |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Cachexia, Failure to thrive, Weight loss |
ORPHA:77297 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Micropenis |
OMIM:241410 |
| Ppoma |
|
Hypercalcemia, Weight loss |
ORPHA:97278 |
| Pseudohypoparathyroidism, Type Ia |
|
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemic tetany, Ob... |
OMIM:103580 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Nephrolithiasis, Hypercalcemia, Weight loss |
ORPHA:652 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Failure to thrive in infancy, Hyperkalemia, Hyponatremia, Weig... |
ORPHA:171876 |
| Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Enuresis, Abnormal renal morphology, Hypercalcemia, Micropeni... |
OMIM:194050 |
| Short Rib-Polydactyly Syndrome |
|
Polycystic kidney dysplasia, Increased nuchal translucency, Abnormality of the kidney, Multiple g... |
ORPHA:1505 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormality of renal excretion, Renal phosphate wasting, Hypophosphatemic... |
ORPHA:289176 |
| Sarcoidosis |
|
Nephrocalcinosis, Tubulointerstitial nephritis, Renal insufficiency, Hypercalciuria, Nephrolithia... |
ORPHA:797 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:54251 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Increased urinary cortisol level, Increased body weight, Abnormality of urine homeos... |
ORPHA:1501 |
| Vipoma |
|
Hypokalemia, Hypercalcemia, Weight loss |
ORPHA:97282 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Fructose Intolerance, Hereditary |
|
Proximal renal tubular acidosis, Transient aminoaciduria, Hypophosphatemia, Glycosuria, Hyperuric... |
OMIM:229600 |
