| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... |
OMIM:616963 |
| Idiopathic Hypercalciuria |
|
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... |
ORPHA:2197 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin... |
OMIM:143880 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia |
OMIM:233100 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria |
OMIM:145980 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis, Polydipsia |
OMIM:606996 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Failure to thrive, Hypercalcemia, Nephrocalcinosis, Hypercalciuria |
OMIM:239199 |
| Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalci... |
OMIM:145981 |
| Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, 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 |
|
Hypokalemia, Renal salt wasting, Increased circulating renin level, Hyperchloriduria, Increased u... |
OMIM:607364 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia, Hypomagnesemia, Hypercalciuria |
ORPHA:2239 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia |
OMIM:222100 |
| Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections |
ORPHA:284400 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
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, Polyuria, Ne... |
OMIM:606966 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, ... |
OMIM:618314 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... |
OMIM:601198 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolit... |
OMIM:617671 |
| Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
| Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... |
OMIM:300555 |
| Hypomagnesemia 6, Renal |
|
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia |
OMIM:613882 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria |
ORPHA:419 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating renin level, Polyuri... |
OMIM:612780 |
| Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... |
OMIM:600740 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria |
OMIM:612286 |
| Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresi... |
OMIM:606995 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Reduced ratio of renal calcium clearance to creatinine clearance, Paratho... |
ORPHA:405 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Nephrocalcinosis, Hypercalciuria |
OMIM:602722 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... |
ORPHA:99879 |
| Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Polyhydramnios, Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypoc... |
OMIM:300971 |
| Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... |
OMIM:248250 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Polyhydramnios, Hydrops fetalis, Hypokalemia, Renal salt wa... |
OMIM:602522 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia, Polyuria, Polydipsia, Hypercalciuria |
OMIM:613677 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Threoninemia |
|
Hyperthreoninemia, Hyperthreoninuria |
OMIM:273770 |
| Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... |
ORPHA:2704 |
| Hyperprolinemia, Type Ii |
|
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria |
OMIM:239510 |
| Iminoglycinuria |
|
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria |
ORPHA:42062 |
| Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Polyhydramnios, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urin... |
OMIM:613090 |
| Uremic Pruritus |
|
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... |
ORPHA:94059 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Renal insufficiency, Hypernatremia, Nep... |
ORPHA:35710 |
| Gitelman Syndrome |
|
Hypokalemia, Nocturia, Increased circulating renin level, Polyuria, Hypocalciuria, Salt craving, ... |
OMIM:263800 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... |
OMIM:220100 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... |
OMIM:248190 |
| Dibasic Amino Aciduria I |
|
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria |
OMIM:222690 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Saccharopinuria |
|
Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine concentration, Saccharopinuria, C... |
OMIM:268700 |
| East Syndrome |
|
Renal sodium wasting, Hypokalemia, Renal salt wasting, Abnormal urinary electrolyte concentration... |
ORPHA:199343 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Hypophosphatemia, Generalized aminoaci... |
OMIM:613388 |
| Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria, Hypouricemia |
OMIM:242050 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Iminoglycinuria |
|
Prolinuria, Hyperglycinuria, Hydroxyprolinuria |
OMIM:242600 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Blue urine, Hypercalcemia, Nephrocalcinosis, Increased body weight |
ORPHA:94086 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Nephrocalcinosis, Renal ins... |
ORPHA:320 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
| Nephrogenic Diabetes Insipidus |
|
Polyhydramnios, Hyposthenuria, Enuresis nocturna, Hypernatremic dehydration, Hydroureter, Renal i... |
ORPHA:223 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration, Polyuria, Megacystis, Hypernatremia, Polydipsia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration, Polyuria, Megacystis, Hypernatremia, Polydipsia |
OMIM:304800 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Failure to thrive, Polyuria, Hy... |
OMIM:613845 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
| Central Diabetes Insipidus |
|
Dehydration, Nocturia, Polydipsia, Hyponatremia |
ORPHA:178029 |
| Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... |
OMIM:614723 |
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder |
OMIM:204750 |
| Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
| Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
| Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... |
ORPHA:1031 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Polyuria, Polydipsia, Hypercalcem... |
OMIM:239200 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Cystinosis |
|
Aminoaciduria, Hypophosphatemia, Hypokalemia, Nephropathy, Polydipsia, Proteinuria, Dehydration, ... |
ORPHA:213 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Obesity, Low urinary cyclic AMP response to PTH administration, Hypocalcemia |
OMIM:603233 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Weight loss, Stage 5 chronic kidney disease, Renal sodi... |
ORPHA:3337 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Micropenis, Hypercalciuria |
OMIM:614732 |
| Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine |
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 |
|
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... |
ORPHA:411634 |
| Hyperprolinemia, Type I |
|
Prolinuria, Hyperactivity, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239500 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin, Abnormal renal insterstitial morphology, Stage 5 chronic kidney diseas... |
ORPHA:84081 |
| Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease |
ORPHA:3156 |
| Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
| Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... |
OMIM:615862 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria, Hyperactivity |
OMIM:238700 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
| Gracile Syndrome |
|
Aminoaciduria, Increased serum pyruvate, Increased circulating ferritin concentration, Increased ... |
OMIM:603358 |
| Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia, Class III obesity |
OMIM:616418 |
| Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
| Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyposthenuria, Small for gestational age, Hyperprostaglandinuri... |
OMIM:601678 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphaturia, Hypophosphate... |
ORPHA:157215 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Hypokal... |
ORPHA:18 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
| Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Polydipsia, Hypercalciuria |
ORPHA:251274 |
| Non-Functioning Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Hypercalcemia, E... |
ORPHA:94080 |
| Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Polydipsia |
ORPHA:231580 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Hypophosphatemia, Hypophosphatemic rickets, Low-mo... |
OMIM:300554 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polyphagia, Polydipsia |
OMIM:615986 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... |
ORPHA:411629 |
| Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Hypoka... |
ORPHA:89938 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
| Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
| 5-Oxoprolinase Deficiency |
|
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine |
OMIM:260005 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... |
OMIM:179800 |
| Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria, Hyperhomocystinemia |
OMIM:236250 |
| Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis, Polydipsia |
OMIM:615994 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Polyhydramnios, Hyposthenuria, Hyperprostaglandinuria, Hypokale... |
OMIM:241200 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia |
ORPHA:147 |
| 2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypocalcemia, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Abnormal circulating calcium concentration, Hypophosphatemia, Hypercalci... |
OMIM:241530 |
| Valinemia |
|
Valinuria, Hypervalinemia |
OMIM:277100 |
| Hartnup Disorder |
|
Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Generalized aminoaciduri... |
ORPHA:2088 |
| Cystathioninuria |
|
Nephrolithiasis, Cystathioninemia, Cystathioninuria |
ORPHA:212 |
| Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Renal interstitial fibrosis, Nephronophth... |
OMIM:616217 |
| Hereditary Fructose Intolerance |
|
Hyperuricemia, Hypophosphatemia, Hypermagnesemia, Renal insufficiency, Chronic kidney disease |
ORPHA:469 |
| Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:229100 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... |
ORPHA:284426 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypocalcemic tetany, Hypermagnesiuria, Nephrocalcinosis, Hypoc... |
ORPHA:73224 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Phosphoethanolaminuria, Elevated urine pyrophosphate, Failure to t... |
OMIM:241500 |
| Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Oculoskeletodental Syndrome |
|
Small for gestational age, Renal agenesis, Mucopolysacchariduria, Hypercalcemia, Hypocalcemia, Hy... |
OMIM:618440 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
| Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency |
OMIM:204690 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Galactosemia Iii |
|
Aminoaciduria, Hypergalactosemia, Galactosuria |
OMIM:230350 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
| Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
| Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalciuria, Hypercalcemia, Nephr... |
ORPHA:437 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612926 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia |
OMIM:171420 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612924 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Edema, Prot... |
OMIM:614131 |
| Jeune Syndrome |
|
Nephronophthisis, Nephropathy, Renal insufficiency |
ORPHA:474 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
| Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Hypokalemia, Hypocalc... |
ORPHA:358 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Failure to thrive, Hyponatremia |
OMIM:610600 |
| Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria |
OMIM:238750 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
| Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Failure to thrive, Hyponatremia |
OMIM:203400 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... |
OMIM:300539 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
| Argininemia |
|
Hyperammonemia, Diaminoaciduria |
ORPHA:90 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Ca... |
ORPHA:94090 |
| Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinemia, Impulsivity, Restlessness, Hyperglycinuria |
OMIM:605899 |
| Glucoglycinuria |
|
Glycosuria, Hyperglycinuria |
OMIM:138070 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria, Dehydration |
OMIM:560000 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal tubular dysfun... |
OMIM:134600 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypercalciuria |
OMIM:156400 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
OMIM:615605 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopa... |
ORPHA:276621 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Polydipsia, Hypercalcemia, Dysphag... |
ORPHA:99880 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria |
OMIM:615158 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616629 |
| Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Elevated circulating creatine kinase concentration |
OMIM:309930 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc... |
ORPHA:93111 |
| Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... |
ORPHA:439232 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
| Parathyroid Carcinoma |
|
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Polydipsia, Hypercalcemia, Dysphag... |
ORPHA:143 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio... |
OMIM:605850 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Hyperkalemia,... |
ORPHA:97362 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... |
ORPHA:251004 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinuria, Failure to thrive, Increased urine deoxypyri... |
OMIM:239000 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Nephrolithiasis, Polydipsia |
ORPHA:369929 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Oligohydramnios, Abnormal renal corticomedullary differentiation, Elevated circulating creatinine... |
OMIM:616733 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Nephrocalcinosis, Hypocalcemia, Hypomagnesemia, Hypercalciuria, Hypermagnesiuria |
ORPHA:428 |
| Saccharopinuria |
|
Hyperlysinemia, Hyperlysinuria, Citrullinuria, Abnormality of circulating enzyme level, Cystinuri... |
ORPHA:3124 |
| Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystinuria, Polyphagia |
ORPHA:163690 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Renal dysplasia, Pericardial effusion, Pleural effusion, Polyuria, Hyponatremia, ... |
OMIM:618183 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Oliguria, Hyponatr... |
ORPHA:31824 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
| Thymic Neuroendocrine Tumor |
|
Weight loss, Hypercalcemia, Calcium nephrolithiasis |
ORPHA:97289 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
| Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia |
ORPHA:436 |
| Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613159 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:264350 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
| Primary Hyperoxaluria |
|
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... |
ORPHA:416 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... |
ORPHA:99845 |
| Xanthinuria, Type Ii |
|
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... |
OMIM:603592 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:618913 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria |
ORPHA:89936 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Refractory Celiac Disease |
|
Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Stage 3 chronic kidney disease, Hypophosphatemia, Medullary nephrocalcinosi... |
OMIM:619743 |
| Multiple Myeloma |
|
Weight loss, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder, Nephropathy, Hy... |
ORPHA:29073 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Elevated urinary N-acetylaspartic acid level, ... |
OMIM:618384 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis,... |
ORPHA:29072 |
| Senior-Loken Syndrome 8 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Global glomerulosclerosis, Glomerular subepithe... |
OMIM:616307 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Proximal tubulopathy, Abnormal magnesium concentration, Hypokal... |
OMIM:241150 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
| Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Weight loss, Hyperkalemia, Renal salt wasting, Increased circulating renin level, ... |
ORPHA:95409 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... |
OMIM:619386 |
| Pheochromocytoma |
|
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis |
OMIM:171300 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Failure to thrive |
OMIM:612075 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Hypophosphaturia, Hypocalciuria, Attention deficit hyperactivity disorder |
ORPHA:73223 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Edema, Pro... |
OMIM:614196 |
| Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Edema, Diffuse mesangial sclerosis, Proteinur... |
OMIM:610725 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:614736 |
| Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia |
ORPHA:172 |
| Rhyns Syndrome |
|
Nephronophthisis, Renal insufficiency, Chronic kidney disease |
OMIM:602152 |
| Joubert Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:608629 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hyperphosphaturia, Hypocalcemia |
ORPHA:89937 |
| 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 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Cystinuria, Failure to thrive, Hypocalcemia, Nephrolithiasis |
OMIM:606407 |
| Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
| Panhypophysitis |
|
Hyposthenuria, Polydipsia, Hyponatremia |
ORPHA:95513 |
| Infantile Myofibromatosis |
|
Abnormality of the kidney, Hypercalcemia |
ORPHA:2591 |
| Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia, Nocturia |
OMIM:223360 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Oligohydramnios, Reduced renal cort... |
OMIM:208085 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Large for gestational age, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercal... |
OMIM:615398 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Weight loss, Hyperkalemia, M... |
ORPHA:79102 |
| Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Anuria, Renotubular dysgenesis, Oligohydramnios |
OMIM:267430 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponat... |
ORPHA:556037 |
| Familial Cold Urticaria |
|
Polydipsia, Dehydration |
ORPHA:47045 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Chronic kidney disease |
OMIM:615630 |
| Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
| Familial Isolated Hypoparathyroidism |
|
Nephropathy, Hypocalcemia |
ORPHA:2238 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Hydroxyprolinuria |
OMIM:602080 |
| Galactosemia I |
|
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... |
OMIM:230400 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Nephrocalcinosis, Proteinuria, Hy... |
OMIM:616026 |
| Fanconi-Bickel Syndrome |
|
Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria, Failure ... |
OMIM:227810 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia |
ORPHA:403 |
| Erdheim-Chester Disease |
|
Dysuria, Pleural effusion, Joint swelling, Renal insufficiency, Polydipsia, Hydronephrosis |
ORPHA:35687 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Nephropathy, Abnormality of the urinary system, Poly... |
ORPHA:3463 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Joubert Syndrome 6 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Dehydration, Hyponatremia |
ORPHA:556030 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hypoargininemia, Hyperglutaminemia |
ORPHA:23 |
| Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Hypocalcemia, Cachexia |
ORPHA:1438 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Proximal renal tubular acido... |
ORPHA:427 |
| Wilson Disease |
|
Aminoaciduria, Pedal edema, Glycosuria, Hyperphosphaturia, Decreased circulating ceruloplasmin co... |
OMIM:277900 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... |
ORPHA:85450 |
| Glutathionuria |
|
Urinary incontinence, Glutathionuria |
OMIM:231950 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Alaninuria, Lacticaciduria, Hyperprolinemia, Hyperglutaminuria, Hyperg... |
OMIM:616299 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Hypernatremia, Hypoc... |
ORPHA:94093 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... |
ORPHA:411536 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hy... |
OMIM:612462 |
| Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... |
OMIM:216360 |
| Familial Expansile Osteolysis |
|
Hydroxyprolinuria |
OMIM:174810 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Congenital megaureter, Renal dysplasia, Obesity, Renal cyst, Hypercalcemia, Abnormality of the ur... |
ORPHA:369837 |
| Toxic Epidermal Necrolysis |
|
Dysuria, Dysphagia, Renal insufficiency, Abnormality of the urethra, Polydipsia |
ORPHA:537 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria |
OMIM:604273 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Histidinuria Due To A Renal Tubular Defect |
|
Histidinuria, Impaired histidine renal tubular absorption |
OMIM:235830 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
| Addison Disease |
|
Hyperuricemia, Weight loss, Hyperkalemia, Renal salt wasting, Increased circulating renin level, ... |
ORPHA:85138 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Impaired histidine renal tubular absorption |
ORPHA:2158 |
| Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Tubulointerstitial nephritis, Failure to thrive in infancy, Decreased prealbumin level, Nephrotic... |
ORPHA:37042 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria, Co... |
OMIM:613404 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcium nephrolithiasis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:36913 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Hyperbilirubinemia, Failure to thrive, Complex organic aciduria, 3-Met... |
OMIM:557000 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormality of medullary pyramid morphology, Increased serum pyruvate |
ORPHA:79243 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic aciduria, Methylmalonic acidemia, Elevated circulating creatine kina... |
OMIM:612073 |
| Monosomy 13Q34 |
|
Obesity, Hypercalcemia, Fetal pyelectasis |
ORPHA:96168 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis, Decreased renal tubular phosphate excretion, Nephrocalcinosis, Inc... |
OMIM:211900 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Systemic Capillary Leak Syndrome |
|
Pedal edema, Pulmonary edema, Abnormal renal tubule morphology, Pleural effusion, Oliguria, Renal... |
ORPHA:188 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
| Rabson-Mendenhall Syndrome |
|
Increased C-peptide level, Hypokalemia, Long penis, Nephrocalcinosis, Polydipsia |
ORPHA:769 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Failure to thrive, Hypercalcemia |
ORPHA:476126 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Elevated urinary epineph... |
ORPHA:653 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Hyperkalemia, Failure to thrive, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Abnormality of the ureter, Orotic acid crystalluria |
ORPHA:30 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration, Renal salt wasting, Hyponatremia |
OMIM:300200 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration |
ORPHA:1933 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
| Nephroblastoma |
|
Nephroblastoma, Hematuria, Weight loss |
ORPHA:654 |
| Cholera |
|
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Hypokalemia, Abnorma... |
ORPHA:173 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Polyphagia, Polydipsia, Oligohydramnios |
ORPHA:525731 |
| Whipple Disease |
|
Pedal edema, Polydipsia, Hyponatremia |
ORPHA:3452 |
| Focal Myositis |
|
Weight loss, Elevated circulating creatine kinase concentration |
ORPHA:48918 |
| Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
| Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
| Tryptophanuria With Dwarfism |
|
Tryptophanuria |
OMIM:276100 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency, Polyhydramnios |
OMIM:219730 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Weight loss, Abnormality... |
OMIM:256700 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Hypocalcemia |
ORPHA:352540 |
| Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria, Hyperornithinemia |
ORPHA:414 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... |
OMIM:610188 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Obesity, Hypocalcemia |
ORPHA:79445 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Pleural effusio... |
ORPHA:542323 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
| Pearson Syndrome |
|
Hyperalaninemia, Glycosuria, Small for gestational age, Hypophosphatemia, Hypokalemia, Hypocalcem... |
ORPHA:699 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Glomerulopathy, Aminoaciduria, Abnormal renal tubule morphology, Hypophosph... |
ORPHA:534 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Increased blood urea nitrogen, Hyperlipid... |
OMIM:235400 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... |
OMIM:617641 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Polyhydramnios |
OMIM:618541 |
| Duplication Of Urethra |
|
Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ... |
ORPHA:237 |
| Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosph... |
OMIM:307800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Generalized aminoaciduria, Failure to thrive, Hypocalcemic seizures, Hypocalcemia |
OMIM:264700 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Xerostomia, Renal insufficiency, Oliguria, Dysphagia |
ORPHA:220393 |
| Ethylene Glycol Poisoning |
|
Cerebral edema, Pulmonary edema, Decreased urine output, Renal tubular epithelial necrosis, Hemat... |
ORPHA:31826 |
| Leprechaunism |
|
Decreased body weight, Enlarged kidney, Hypokalemia, Increased circulating renin level, Long peni... |
ORPHA:508 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Dicarboxylic acidur... |
ORPHA:159 |
| Lassa Fever |
|
Facial edema, Oliguria, Dysphagia |
ORPHA:99824 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
ORPHA:436271 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... |
ORPHA:103910 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Zollinger-Ellison Syndrome |
|
Weight loss, Hypercalcemia, Increased urinary cortisol level |
ORPHA:913 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... |
ORPHA:1578 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Hyperammonemia, Weight loss |
ORPHA:79242 |
| Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Acute tubulointerstitial nephritis, Pulm... |
ORPHA:340 |
| Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Abnormal renal corticomedullary differentiation, Ascites |
OMIM:617397 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Argininosuccinic aciduria, Cerebral edema, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia... |
OMIM:603471 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Renal insufficiency, Renal cyst |
OMIM:608091 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Micropenis |
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 |
|
Polyhydramnios, Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
| Familial Glucocorticoid Deficiency |
|
Weight loss, Recurrent urinary tract infections, Hyperkalemia, Hypernatriuria, Renal salt wasting... |
ORPHA:361 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperactivity, Hyperechogenic kidneys |
OMIM:620047 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
OMIM:220110 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Failure to thrive, Hypospadias, Hypocalcemia, Micropenis |
OMIM:607143 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Wild Type Attr Amyloidosis |
|
Weight loss, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency |
ORPHA:330001 |
| Polyarteritis Nodosa |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Periorbital edema |
ORPHA:514 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Hyponatremia, Calcinosis, Hypokalemia, Renal artery stenosis, Dysphagia, Renal hyp... |
OMIM:617913 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria |
OMIM:249270 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... |
OMIM:231680 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... |
ORPHA:2237 |
| Cranioectodermal Dysplasia 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614099 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Generalized aminoaciduria, Failure to thrive, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Ca... |
ORPHA:94089 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Nephrolithiasis, Hypocalcemia |
ORPHA:93160 |
| Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Oliguria |
ORPHA:727 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperkalemia, Polyphagia, Hyperlipidemia, Hyponatremia, Enuresis, Polydipsia |
ORPHA:293987 |
| Hepatocellular Carcinoma |
|
Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Hypocalcemia, Weight loss |
ORPHA:47 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypona... |
ORPHA:90038 |
| Nephrolithiasis, Calcium Oxalate |
|
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Large for gestatio... |
ORPHA:116 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Cachexia, Proteinuria |
ORPHA:2774 |
| Netherton Syndrome |
|
Ectopic kidney, Aminoaciduria, Dehydration, Hydronephrosis |
ORPHA:634 |
| Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... |
ORPHA:812 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Failure to thrive, Increased serum bile... |
OMIM:619377 |
| Aneurysm Of Sinus Of Valsalva |
|
Edema, Oliguria |
ORPHA:1054 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Proteinuria, Hematuria, Weight loss |
ORPHA:90060 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis,... |
ORPHA:49041 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Hypospadias, Penoscrotal hyp... |
ORPHA:90791 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Cachexia, Dicarboxylic aciduria, Elevated circulating cre... |
ORPHA:42 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Micropenis, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Obesity, Low urinary cyclic AMP response to PTH administration, Hyperphospha... |
OMIM:103580 |
| Majeed Syndrome |
|
Glomerulopathy, Weight loss, Cachexia, Failure to thrive, Proteinuria, Microscopic hematuria |
ORPHA:77297 |
| Multiple Endocrine Neoplasia Type 1 |
|
Weight loss, Nephrolithiasis, Hypercalcemia, Hypercalciuria |
ORPHA:652 |
| Ppoma |
|
Hypercalcemia, Weight loss |
ORPHA:97278 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive in ... |
ORPHA:171876 |
| Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Polyhydramnios, Abnormality of the kidney, Polycystic kidney dysplasia,... |
ORPHA:1505 |
| Williams-Beuren Syndrome |
|
Failure to thrive in infancy, Vesicoureteral reflux, Recurrent urinary tract infections, Nephroca... |
OMIM:194050 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hypocalcemic tetany, Abnormality of renal excretion, Hyperphosphaturia, ... |
ORPHA:289176 |
| Sarcoidosis |
|
Tubulointerstitial nephritis, Weight loss, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, ... |
ORPHA:797 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:54251 |
| Adrenocortical Carcinoma |
|
Weight loss, Hypokalemia, Abnormality of urine homeostasis, Increased urinary cortisol level, Inc... |
ORPHA:1501 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Vipoma |
|
