Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 2 (facilitated glucose transporter), member 9
Synonyms:
Glut9,  SLC2A9B,  SLC2a9A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc2a9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc2a9 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Hyperuri... ORPHA:94088
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076

The table below shows human diseases predicted to be associated to Slc2a9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Hyperuricosuria, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Bronchiectasis,... OMIM:619468
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Hyperuri... ORPHA:94088
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... OMIM:614196
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Podagra, Hyperuricemia, Renal insufficiency OMIM:300323
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Failure to thrive, Medullary nephrocal... OMIM:616963
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Hyperuricosuria, Hyperuricemia, Crystalluria, Renal insufficiency, Gout, Uri... ORPHA:411543
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... OMIM:162000
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia, Renal insufficiency, Gout, Uric acid nephrolithiasis OMIM:300661
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Chron... OMIM:248190
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Lesch-Nyhan Syndrome
Gout, Renal insufficiency, Hematuria, Hyperuricemia ORPHA:510
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Abnormal ... ORPHA:567544
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Hyperuricemia... OMIM:603860
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypercalc... OMIM:145981
Senior-Loken Syndrome 1
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Cystathioninuria
Cystathioninuria, Cystathioninemia, Nephrolithiasis ORPHA:212
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypercalc... OMIM:600740
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... ORPHA:564178
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Hyperuricemia, Nephropathy, Gout, Focal segmental glomerulosc... OMIM:617056
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Polydipsia, Hypermagnesemia, Hypocal... OMIM:617671
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypercalcemia, Hypercalciuria, Pancreatitis, Hypermagnesemia, Hypocalciuria OMIM:145980
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Proteinuria, Hypercalc... ORPHA:1652
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, F... OMIM:613845
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Senior-Loken Syndrome 4
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Cystinuria, Nephrolithiasis ORPHA:163690
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Distal Renal Tubular Acidosis
Hypokalemia, Hypermagnesiuria, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypocitraturia, Hyp... ORPHA:18
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Hematuria, Nephrolithiasis, Renal insuff... OMIM:614723
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Failure to ... OMIM:143880
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, Myoglobinuria, Re... ORPHA:228302
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia OMIM:618314
Uremic Pruritus
Stage 5 chronic kidney disease, Recurrent skin infections, Hypercalcemia, Increased blood urea ni... ORPHA:94059
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Cystinuria, Nephrolithiasis ORPHA:163693
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Renal Glucosuria
Glycosuria, Enuresis nocturna, Polyuria, Polyphagia, Polydipsia OMIM:233100
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Obesity, Hyperuri... ORPHA:261222
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Enterocolitis, ... OMIM:260005
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... OMIM:618913
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis OMIM:278300
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia, Hydronephrosis, Hypokalemia, Polyuria OMIM:304900
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Hypouricemi... ORPHA:3467
Familial Hypocalciuric Hypercalcemia
Parathormone-independent increased renal tubular calcium reabsorption, Hypocalcemic seizures, Nep... ORPHA:405
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Methylmalonic acidemia, Tubulointerstitial nephritis, Failure to thrive, ... OMIM:251000
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Weight loss, Hyperuricosuria, Bicarbonaturia,... ORPHA:3337
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Reduced renal corticomedullary differentiation, Hypochloremia, Decreas... OMIM:602522
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Sucrase-Isomaltase Deficiency, Congenital
Nephrolithiasis OMIM:222900
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Elevated circulating creatinine concentration, Nephrolithiasis, Di... OMIM:179800
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Hypocalciuria OMIM:154020
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Podagra, Hyperuricemia, Dysphagia OMIM:300322
Cystinuria
Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia ORPHA:214
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:2239
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonaturia, Hyperuricosuria, Hype... ORPHA:47159
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Glomerulonephritis,... OMIM:614376
East Syndrome
Hypokalemia, Increased circulating renin level, Polydipsia, Enuresis, Renal salt wasting, Salt cr... ORPHA:199343
Birk-Landau-Perez Syndrome
Hyperkalemia, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency OMIM:617595
Central Diabetes Insipidus
Hyponatremia, Nocturia, Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Medullary Sponge Kidney
Hypercalciuria, Nephrolithiasis, Hematuria, Distal renal tubular acidosis ORPHA:1309
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis, Hypercalciuria, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting OMIM:612286
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Elevated circulating creatinine c... ORPHA:329918
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal resorption, Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria, Hypocalcemia, Hype... ORPHA:73224
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis OMIM:616629
Apparent Mineralocorticoid Excess
Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentration, Failure to thrive, Decreased ... ORPHA:320
Preeclampsia
Elevated circulating creatinine concentration, Small for gestational age, Acute kidney injury, Pr... ORPHA:275555
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Elevated circulating creatinine concentration, Hemat... ORPHA:730
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Failure to thrive, Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Failure to thrive, Polydipsia, Hypernatremia OMIM:304800
Leigh Syndrome With Nephrotic Syndrome
Renal cyst, Renal tubular acidosis, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Xanthinuria, Type Ii
Renal insufficiency, Nephrolithiasis, Hypouricemia OMIM:603592
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Failure to ... ORPHA:223
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Autosomal Dominant Hypocalcemia
Hypermagnesiuria, Nephrocalcinosis, Hypercalciuria, Hypocalcemia, Eczema, Hyperphosphatemia, Hypo... ORPHA:428
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Urolithiasis, Uric Acid, Autosomal Dominant
Uric acid urolithiasis independent of gout OMIM:191700
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Po... ORPHA:2704
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... ORPHA:411634
Bardet-Biedl Syndrome 10
Obesity, Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Salt craving, Polyuria, Enuresis, Renal salt wast... OMIM:612780
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Cystinosis
Hypokalemia, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Failure to thrive, Nephropath... ORPHA:213
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glycosuria, Renal cortical cysts, Proximal tubulopathy, Polycystic kid... OMIM:231680
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis, Hypocalcemia, Failure to thrive, Polyphagia OMIM:606407
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Hypercalcemia, Failure to thrive, Renal insufficiency, Hypernatremia,... ORPHA:35710
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Hereditary Fructose Intolerance
Chronic kidney disease, Hyperuricemia, Renal insufficiency, Hypermagnesemia, Hypophosphatemia ORPHA:469
Hyperparathyroidism 2 With Jaw Tumors
Recurrent pancreatitis, Nephrolithiasis, Hypercalcemia, Renal cortical adenoma, Polycystic kidney... OMIM:145001
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Nephrolithiasis, Hematuria ORPHA:2196
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Decreased plasma carnitine, Hyperuricemia, Increased level of hippuric... OMIM:246450
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypoplasia of penis, Nephrolithiasis, Hypospadias ORPHA:1816
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Proteinuria, Acute kidney in... ORPHA:93126
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypercalciuria, Polyuria, Hyperphosphaturia, Aminoaciduria, Failure to thrive, Cal... OMIM:239200
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Polydipsia, Nep... OMIM:606995
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Polydipsia, Polyuria, Enuresis, Nocturia, Salt cr... OMIM:263800
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Tubulointerstitial nephritis, Hyperalaninemia OMIM:614582
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts, Increased serum pyruvate, Hyperalaninemia OMIM:617668
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level, Polydipsia OMIM:613677
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... ORPHA:157
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Gitelman Syndrome
Hypokalemia, Renal tubular acidosis, Renal Fanconi syndrome, Decreased urinary potassium, Protein... ORPHA:358
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypercalciuria, Hypophosphatemic rickets, Hyperphosphaturia, Increased circulati... ORPHA:157215
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Failure to thrive OMIM:263000
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia, Tubulointerstitial fi... OMIM:263200
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Glycogen Storage Disease Vii
Gout, Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia OMIM:232800
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Abnormality of circulating enzyme level, Dysuria, D... ORPHA:93598
Fructose Intolerance, Hereditary
Glycosuria, Bicarbonaturia, Hyperuricosuria, Proximal tubulopathy, Hyperphosphaturia, Hyperuricem... OMIM:229600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypercholesterolemia, Proteinuria, Abnormal circulating lipid concen... ORPHA:567548
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Hypophosphatemic rickets... OMIM:300554
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Recurrent otitis media, Abnormality of the kidney, Obesity, Renal dys... OMIM:615993
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Nephrotic syndrome, Failure to thrive in infancy, Proteinuria, Decreased glomerular filtration ra... ORPHA:488627
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating ac... ORPHA:228308
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Elevated circulating creatini... OMIM:137920
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Renal insufficiency, Polyphagia OMIM:615986
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal blood ion co... ORPHA:411629
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Obesity, Polydipsia, Stage 5 chronic kidney disease OMIM:615994
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Proteinuria, Hydronephrosis, Prostatitis, Arteriti... ORPHA:449395
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouric... OMIM:616026
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Small for gestational age, Abnorm... OMIM:616733
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612926
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubulointerst... ORPHA:139402
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Osteoarthrit... OMIM:277900
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Polyuria, Rena... OMIM:607364
Alstrom Syndrome
Recurrent pneumonia, Tubulointerstitial nephritis, Hyperuricemia, Truncal obesity, Nephritis, Oti... OMIM:203800
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myositis, Weight loss, Hematuria, Proteinuria, Increased inflammatory response, Myocar... ORPHA:183
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Dysphagia, Nephrolithiasis ORPHA:352447
Flotch Syndrome
Blepharitis, Nephrolithiasis, Inflammatory abnormality of the eye ORPHA:2045
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Polycystic kidney dysplasia, Recurrent urinary tra... OMIM:613095
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria, Weight loss ORPHA:95626
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Horseshoe kidney, Renal Fanconi syndrome, Acute kidney injury, Hypospadias, Hyper... ORPHA:93111
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypercalcemia,... OMIM:601678
Nail Disorder, Nonsyndromic Congenital, 3
Nephrolithiasis OMIM:151600
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia, Renal phosphate wasting OMIM:241519
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hematuria, Hyperuricemia ORPHA:35909
Yao Syndrome
Weight loss, Nephrolithiasis, Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, P... OMIM:617321
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased seru... OMIM:241200
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Hydroxyprolinuria, Hyperuricemia, Failure to thrive, Hydroxyprolinemia, Hyperphos... OMIM:239000
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Mpdu1-Cdg
Elevated circulating creatine kinase concentration, Renal cortical cysts, Eczema ORPHA:79323
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Increased circulating renin level, Ac... ORPHA:89938
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, In... ORPHA:143
Acute Adrenal Insufficiency
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Hype... ORPHA:95409
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Membranous nephropathy, Hepatitis, Inflammatory abnormality of the ... ORPHA:37042
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Hypospadias, Failure to thrive, Recurrent urinary tract infections, Neurogenic bl... OMIM:191800
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Membranous nephropathy, Pancreatitis, Hyperammone... ORPHA:470
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, Hypospadias OMIM:605231
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Failure to thrive OMIM:617093
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Renal duplication, Proteinuria, Tubulointerstitial nephritis, Glomerul... ORPHA:33001
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Hypercalciuria, Hypophosphatemic rickets, Failure to thrive, Calcium n... OMIM:241530
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia, Hypokalemia ORPHA:251274
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... OMIM:614131
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, In... ORPHA:99880
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Failure to thrive OMIM:232500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hypokalemia, Nephrolithiasis ORPHA:369929
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Cystinosis, Nephropathic
Glycosuria, Hypokalemia, Failure to thrive in infancy, Proteinuria, Hypophosphatemic rickets, Pol... OMIM:219800
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Pneumonia, Elevated circulating creatinine concentr... ORPHA:340
Glycogen Storage Disease Ic
Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hyperuricemia, Chro... OMIM:232240
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Fetal pyelectasis, Recurrent urinary tract infections, Nephrolithiasis, Megacystis OMIM:619365
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Calcium nephrolithia... ORPHA:36913
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231580
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental... OMIM:615573
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Failure to thrive OMIM:239199
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Increased urinary sulfite, Increased urinary thiosulfate, Decreased urinary urate, D... OMIM:252150
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Beta-Ketothiolase Deficiency
Hyperuricemia, Ketonuria, Oral aversion, Weight loss, Hyperammonemia ORPHA:134
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Urinary incontinence,... ORPHA:94093
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Hyperlipidemia, Nephrolithiasis, Polycystic ovaries, Proteinur... ORPHA:79259
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux, Failure to thrive in infancy ORPHA:85285
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Failure to thrive, Tubulointerstitial nephritis, Cholangitis OMIM:124000
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Colchicine Poisoning
Oliguria, Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Myocarditis,... ORPHA:31824
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Failure to thrive OMIM:602722
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Failure to thrive, Polyuria OMIM:560000
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency,... OMIM:613388
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Gaisböck Syndrome
Nephrocalcinosis, Hypercholesterolemia, Increased circulating renin level, Cholecystitis, Gout, O... ORPHA:90041
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Beta 2-microglobulinuria, Scleritis, Renal neutrop... ORPHA:91500
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, A... ORPHA:49041
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Renal salt wasting, Hyponatremia OMIM:614736
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Increased urinary taurine, Hypouricemia, Increased urinary hypoxanthine, Xanthine ne... OMIM:252160
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Nephrolithiasis ORPHA:93160
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Increased urinary glycerol, Hyperalaninemia, Hyperuricemia ORPHA:348
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Multiple renal cysts ORPHA:3033
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Polyuria, Renal dysplasia, Hypoalbuminemia, Hypertriglyceridemia, Hyp... OMIM:618183
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Nephrolithiasis OMIM:615474
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Hyperphosphaturia, Rena... ORPHA:99879
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Nephritis OMIM:609057
Molybdenum Cofactor Deficiency, Complementation Group C
Hypocystinemia, Increased urinary taurine, Hypouricemia, Neonatal death, Hypertaurinemia OMIM:615501
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria,... ORPHA:439232
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Failure to thrive OMIM:203400
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hematuria, Proteinuria, Elevated circulating C-reac... OMIM:614034
Harrod Syndrome
Failure to thrive, Renal cortical microcysts, Hypospadias OMIM:601095
Sebocystomatosis
Nephrolithiasis ORPHA:841
Systemic Lupus Erythematosus
Lupus nephritis, Malar rash, Nephritis, Pericarditis, Arthritis OMIM:152700
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss, Hypercalcemia ORPHA:97289
Arima Syndrome
Occipital meningocele, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Tubulointerst... OMIM:243910
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency, Impaired renal concentrating ability OMIM:204690
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Dysphagia, Renal atrophy OMIM:618578
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Proteinuria, Increased ... OMIM:274150
Addison Disease
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Hash... ORPHA:85138
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Aminoaciduria, Calcinosis, Dysphagia OMIM:617913
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Renal cyst, Renal cortical microcysts OMIM:614866
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Failure to thrive OMIM:610600
Genetic Recurrent Myoglobinuria
Oliguria, Myositis, Acute kidney injury, Hyperkalemia, Hypocalcemia, Highly elevated creatine kin... ORPHA:99845
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Stage 5 chronic kidney disease, Impaired renal concentrat... OMIM:610188
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Aminoaciduria, Failure to thrive, Dysphagia, Albuminur... OMIM:214100
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:195
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Decreased body weight, Vesicoureteral reflux OMIM:618265
Primary Hyperoxaluria
Aciduria, Nephrocalcinosis, Hematuria, Hypercalciuria, Chronic kidney disease, Failure to thrive,... ORPHA:416
Lead Poisoning
Renal tubular dysfunction, Small for gestational age, Chronic kidney disease, Tubulointerstitial ... ORPHA:330015
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Obesity, Osteoarthritis, Acne, Hyperuricemia ORPHA:77296
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Small for gestational age, Hypermethioninemia, Abnormality of iron hom... OMIM:222470
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Marcus-Gunn Syndrome
Nephrolithiasis ORPHA:91412
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:610725
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Renal dysplasia, Failure to thrive, Hyperechogenic kidneys, Meningocele, Re... ORPHA:397715
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
C Syndrome
Failure to thrive, Renal cortical cysts OMIM:211750
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Diffuse Alveolar Hemorrhage
Weight loss, Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Nephrolithiasis, Increased urinary cortisol level, Acne, Abdominal obesity, Renal... ORPHA:189427
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Nephrolithiasis, Abdominal obesity OMIM:219090
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Intermediate Uveitis
Anterior uveitis, Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis ORPHA:279914
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, 3-Methylglutaric aciduria, Hyperuricemia, Ketonuria, Weight loss, Hyperammonemia ORPHA:20
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... OMIM:235400
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Relapsing Fever
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Elevated circulati... ORPHA:91547
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Proximal tubulo... OMIM:241150
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Failure to thrive, Renal salt wasting, Hyponatremia OMIM:264350
Leukonychia Totalis
Blepharitis, Nephrolithiasis ORPHA:2387
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Erdheim-Chester Disease
Dysuria, Hydronephrosis, Osteomyelitis, Renal insufficiency, Polydipsia, Weight loss, Skin rash ORPHA:35687
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Mucopolysaccharidosis, Type X
Dermatan sulfate excretion in urine, Nephrolithiasis OMIM:619698
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyper... ORPHA:6
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, ... ORPHA:839
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Cocaine Intoxication
Hematuria, Acute kidney injury, Proteinuria, Colitis, Glomerulonephritis, Tubulointerstitial neph... ORPHA:90068
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Failure to thrive OMIM:616973
Bardet-Biedl Syndrome 4
Obesity, Renal cyst, Abnormality of the kidney OMIM:615982
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hypercalcemia, Proteinuria ORPHA:2668
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Renal cortical cysts, Renal cyst ORPHA:1692
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting OMIM:193100
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Hypouricemia ORPHA:760
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Hypoproteinemia, Glomerular sclerosis, Nephrotic syndrome, Thic... OMIM:619155
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Myelomeningocele, Ureteral atresia OMIM:183802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Elevated circulating creatine kinase concentration, Renal... OMIM:615287
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Recurrent pneumonia, Enlarged kidney, Hyponatremia, Increased serum bile acid concentra... ORPHA:731
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Nephrolithiasis, Increased urinary cortisol level, Acne, Abdominal obesity, Incre... ORPHA:189439
Alkaptonuria
Decreased glomerular filtration rate, Elevated urinary homogentisic acid, Arthritis, Nephrolithiasis OMIM:203500
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Decreased urinary potassium,... ORPHA:79102
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Cranioectodermal Dysplasia 1
Hypocalcemia, Tubulointerstitial nephritis, Chronic kidney disease, Renal magnesium wasting, Hepa... OMIM:218330
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypercalciuria, Hypospadias, Hypercalcemia OMIM:614732
Panhypophysitis
Hashimoto thyroiditis, Polydipsia, Hyponatremia, Hyposthenuria ORPHA:95513
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Nephroblastoma, Vesicou... OMIM:130650
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Decreased urine output, Acute kidney injury, Incre... ORPHA:542323
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Recurrent otitis media, Hydronephrosis, Renal hypoplasia, Dysphagia OMIM:618494
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Osteomyelitis, Failure to thrive, Recurrent urinary tract infections, Neurogenic ... OMIM:619218
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604367
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Elevated circulating creatinine concentration, Pn... ORPHA:36234
Burkitt Lymphoma
Hyperuricemia ORPHA:543
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Decreased plasma total carnitine, Elevated circulating creatinine concentration,... OMIM:608836
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Retinal Venous Beading
Nephritis OMIM:180080
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Increased blood urea nitro... OMIM:154230
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hematuria, Renal insufficiency, Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:259900
Toxic Epidermal Necrolysis
Weight loss, Dysuria, Pancreatitis, Dysphagia, Renal insufficiency, Polydipsia, Abnormality of th... ORPHA:537
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Increased circulating inosine concentration, Hypouricemia, Failure to thriv... OMIM:613179
Simple Cryoglobulinemia
Viral hepatitis, Nephrotic syndrome, Weight loss, Mesangial hypercellularity, Proteinuria, Abnorm... ORPHA:91139
Pediatric Systemic Lupus Erythematosus
Myositis, Nephrotic syndrome, Hematuria, Proteinuria, Malar rash, Abnormality of the urinary syst... ORPHA:93552
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts ORPHA:2924
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Adamantinoma
Hypercalcemia ORPHA:55881
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Increased circulating renin level, Hyperkalemia, Renal... ORPHA:427
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Hypospadias, Failure to thrive in infancy, Renal insufficiency OMIM:611209
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Hyperlipidemia, Glomerular sclerosis, Small for ges... OMIM:256300
Wolfram Syndrome
Dysuria, Recurrent urinary tract infections, Abnormality of the urinary system, Nephropathy, Poly... ORPHA:3463
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Renal sodium wa... ORPHA:556037
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Pearson Syndrome
Glycosuria, Hypokalemia, Lacticaciduria, Renal cyst, Small for gestational age, Proteinuria, Hypo... ORPHA:699
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent pneumonia, Nephrotic syndrome, Proteinuria, Renal tubular atrophy, Nep... OMIM:617303
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Glomerular sclerosis, Elevated circulating creatinine concentratio... OMIM:223900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria, Neph... ORPHA:247691
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Hypoalbuminemia, F... ORPHA:656
Hypoplasminogenemia
Decreased level of plasminogen, Periodontitis, Cervicitis, Nephrolithiasis ORPHA:722
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Renal tubular acidosis, Nephrocalcinosis, Hypercalciuria, ... ORPHA:2088
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Systemic Capillary Leak Syndrome
Oliguria, Abnormal renal tubule morphology, Weight loss, Myocarditis, Pancreatitis, Renal insuffi... ORPHA:188
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Renal sodium wa... ORPHA:556030
Whipple Disease
Myositis, Hyponatremia, Uveitis, Infectious encephalitis, Myocarditis, Cachexia, Pericarditis, Po... ORPHA:3452
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
Webb-Dattani Syndrome
Hypernatremia, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder OMIM:615926
Rabson-Mendenhall Syndrome
Hypokalemia, Nephrocalcinosis, Increased C-peptide level, Long penis, Polydipsia ORPHA:769
Alkaptonuria
Nephrolithiasis, Osteoarthritis, Prostatitis, Aminoaciduria, Arthritis ORPHA:56
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Inflammatory abnormality of the... ORPHA:398063
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Pneumonia, Rheumatoid arthritis, Recurrent sinusitis, Tubulointerstitial ... OMIM:607944
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Nephrocalcinosis, Hypercalcemia, Hyp... OMIM:241500
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria OMIM:166300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Acute kidney injury, An... ORPHA:90038
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Eczema, Aminoaciduria, Erythroderma, Skin rash ORPHA:634
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst OMIM:228940
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Blue urine, Hyperphosphatemia, Increased body weight ORPHA:94086
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Decreased renal tubular phosphate excretion, Increased renal tubular phosphate ... OMIM:211900
Nephronophthisis 13
Stage 5 chronic kidney disease, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Nephronophthis... OMIM:614377
Igg4-Related Aortitis
Hydronephrosis, Increased inflammatory response, Elevated circulating C-reactive protein concentr... ORPHA:449400
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Iridocyclitis, Rheumatoid arthritis, Keratoconjunctivitis sicca, He... ORPHA:227990
Primary Sjögren Syndrome
Optic neuritis, Myositis, Erythema nodosum, Parotitis, Chronic hepatitis, Glomerulonephritis, Abn... ORPHA:289390
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Hypoplasia of penis ORPHA:3157
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hashimoto thyroiditis, Hyperuricemia, Failure to thrive, Hepatitis, ... ORPHA:199299
Congenital Hypothyroidism
Sinusitis, Nephrolithiasis ORPHA:442
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Nephrolithiasis, Hypercalcemia, Hypercalciuria, Elevated urinary... ORPHA:653
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Abnormality of the kidney OMIM:613730
Osteopetrosis With Renal Tubular Acidosis
Renal tubular acidosis, Nephrolithiasis, Distal renal tubular acidosis, Hydronephrosis, Hypocalce... ORPHA:2785
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Distal Trisomy 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia ORPHA:403
Cockayne Syndrome
Unilateral renal agenesis, Nephrotic syndrome, Proteinuria, Renal hypoplasia, Hyperuricemia, Kera... ORPHA:191
Autoimmune Polyendocrinopathy Type 3
Hashimoto thyroiditis, Tubulointerstitial nephritis, Iridocyclitis, Rheumatoid arthritis, Keratoc... ORPHA:227982
Renal Tubular Dysgenesis
Anuria, Renotubular dysgenesis, Abnormality of the urinary system OMIM:267430
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Osteogenesis Imperfecta, Type X
Nephrolithiasis OMIM:613848
Familial Cold Urticaria
Polydipsia, Arthritis, Conjunctivitis ORPHA:47045
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Hypophosphatemic Rickets, X-Linked Dominant
Renal tubular dysfunction, Hypophosphatemic rickets, Osteoarthritis, Hypophosphatemia, Renal phos... OMIM:307800
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Proteinuria, Proximal renal tubular acidosis, Nephrocalcinosis, Hypercalciuria, Olig... ORPHA:534
Sarcoidosis
Nephrocalcinosis, Uveitis, Nephrolithiasis, Hypercalcemia, Parotitis, Hypercalciuria, Erythema no... ORPHA:797
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Recurrent skin infections, Nephrolithiasis, Functional abnormality of the bladd... ORPHA:2953
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hypocalcemic seizures, Hydronephrosis, Hypocalcemia, Polycystic kidney... ORPHA:2237
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Gapo Syndrome
Nephrolithiasis ORPHA:2067
Insulin-Resistance Syndrome Type B
Glycosuria, Decreased body weight, Pneumonia, Weight loss, Polycystic ovaries, Proteinuria, Abnor... ORPHA:2298
Microscopic Polyangiitis
Oliguria, Sinusitis, Uveitis, Hematuria, Arthritis, Peritonitis, Increased inflammatory response,... ORPHA:727
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Pancreatic cysts, Proteinuria, Chronic kidney disease, Conjugated hyperbilirubinemia,... OMIM:208500
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Cholera
Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnormal blood ion concen... ORPHA:173
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Nephrolithiasis ORPHA:521445
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine, Increased blood urea ni... ORPHA:230
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated ... ORPHA:159
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Recurrent skin infections, Hematuria, Renal duplication, Hydronephr... ORPHA:79403
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Adrenal Hypoplasia, Congenital
Failure to thrive, Renal salt wasting, Hyponatremia OMIM:300200
Kenny-Caffey Syndrome, Type 1
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