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Gene: Slc2a9 MGI:2152844

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis 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
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ... OMIM:619468
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia, Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Hyperuricemia, Hprt-Related
Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria OMIM:300323
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Arthritis, Uric a... ORPHA:411543
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Hyperactivity, ... OMIM:618314
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... OMIM:162000
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Nephronophthisis 3
Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficie... OMIM:604387
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Lesch-Nyhan Syndrome
Hematuria, Gout, Renal insufficiency, Hyperuricemia ORPHA:510
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:256100
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricem... OMIM:603860
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina... ORPHA:3467
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... OMIM:617671
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatitis, Hypercalcemia OMIM:145980
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Failure to thrive, Nephrolithiasis ORPHA:163690
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:266900
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Failure to thrive, Low-molecul... ORPHA:18
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... OMIM:613845
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia OMIM:613882
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri... ORPHA:261222
Type 1 Diabetes Mellitus
Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyuria OMIM:222100
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia, Failure to thrive, Nephrolithiasis ORPHA:163693
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the ... ORPHA:94059
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Sucrase-Isomaltase Deficiency, Congenital
Nephrolithiasis OMIM:222900
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria, Ent... OMIM:260005
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Lesch-Nyhan Syndrome
Self-injurious behavior, Nephrocalcinosis, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosur... OMIM:300322
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Hyponatremia, Weight loss, Nocturia ORPHA:178029
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Xanthinuria, Type I
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... OMIM:278300
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Decreased glomerular filtration ... OMIM:602522
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Cystinuria
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis ORPHA:214
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... ORPHA:199343
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures ORPHA:2239
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Failure to thrive, Low-m... ORPHA:47159
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal... ORPHA:73224
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Polydip... ORPHA:223
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Decreased circulating renin... ORPHA:320
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Hypocalcemia, Hyperca... ORPHA:428
Cystinosis
Nephropathy, Aminoaciduria, Polydipsia, Failure to thrive, Renal insufficiency, Renal tubular dys... ORPHA:213
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Megacystis, Polyuria, Hypernatremia OMIM:125800
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P... ORPHA:411634
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Megacystis, Polyuria, Hypernatremia OMIM:304800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity OMIM:616629
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... OMIM:617595
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Hypocalcemia, Nephrolithiasis, Polyphagia, Cystinuria OMIM:606407
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Hyperglycinemia, Hyper... OMIM:251000
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Hematuria, Nephrolithiasis ORPHA:2196
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency OMIM:615987
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia ORPHA:469
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... ORPHA:84081
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Recurrent pancrea... OMIM:145001
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithiasi... OMIM:300661
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... OMIM:619827
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia, Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal conce... OMIM:614227
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hyperalaninemia, Failure to thrive OMIM:614582
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... ORPHA:35710
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypoplasia of penis, Hypospadias, Nephrolithiasis ORPHA:1816
Glycogen Storage Disease Vii
Increased total bilirubin, Exercise-induced myoglobinuria, Gout, Hyperuricemia, Elevated circulat... OMIM:232800
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Salt crav... OMIM:612780
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Failure to thrive, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria... OMIM:239200
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia, Polydipsia, ... OMIM:263800
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote... ORPHA:488627
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria ORPHA:2197
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:613550
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria OMIM:613677
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Polydipsia, Failure to thrive, Hyp... ORPHA:358
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... OMIM:613090
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... ORPHA:157215
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Failure to thrive OMIM:263000
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Nephrolithiasis, Polyuria, Hypercalcemia OMIM:617994
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Aggressive behavior, Hyperactivity, Nephrolithiasis OMIM:620023
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure to thrive, Hyperbilirubinemia,... OMIM:229600
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Failure to thrive OMIM:612740
Infantile Nephropathic Cystinosis
Aminoaciduria, Polydipsia, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyper... ORPHA:411629
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Gout, H... OMIM:232200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph... OMIM:616026
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity OMIM:615986
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... ORPHA:275555
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria OMIM:176200
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... ORPHA:139402
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... OMIM:252150
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Bardet-Biedl Syndrome 17
Polydipsia, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Increased inflammatory re... ORPHA:183
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Glomerulonephritis, Tubu... ORPHA:470
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Dysphagi... OMIM:219800
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:601678
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ... ORPHA:93111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Flotch Syndrome
Inflammatory abnormality of the eye, Blepharitis, Nephrolithiasis ORPHA:2045
Glycogen Storage Disease Iv
Abnormal circulating creatine kinase concentration, Tubulointerstitial fibrosis, Failure to thrive OMIM:232500
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Small for gestational age, Abnormal renal corticom... OMIM:616733
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Dysphagia, Nephrolithiasis ORPHA:352447
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid OMIM:206400
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Bardet-Biedl Syndrome 16
Renal agenesis, Recurrent otitis media, Obesity, Stage 5 chronic kidney disease, Renal insufficie... OMIM:615993
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss, Pollakisuria ORPHA:95626
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Acute Adrenal Insufficiency
Failure to thrive, Renal insufficiency, Hyperuricemia, Hyponatremia, Salt craving, Decreased urin... ORPHA:95409
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... OMIM:252160
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Pneumonia, Decreased urinary urate, Failure to thrive, Recurrent urinary tract infe... OMIM:613179
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... OMIM:191800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Failure to thrive, Hypophosphatemic rickets, Re... OMIM:241530
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure... OMIM:227810
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Hyperuricemia, Hydroxyprolinemia, Hyperc... OMIM:239000
Mpdu1-Cdg
Renal cortical cysts, Eczematoid dermatitis, Elevated circulating creatine kinase concentration ORPHA:79323
Lead Poisoning
Chronic kidney disease, Anorexia, Increased LDL cholesterol concentration, Skin rash, Renal tubul... ORPHA:330015
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Nephrolithiasis, Keratoconjunctivitis s... OMIM:617321
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev... ORPHA:340
Parathyroid Carcinoma
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... ORPHA:143
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Erythroderma, Failure to thrive OMIM:609180
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Beta-Ketothiolase Deficiency
Ketonuria, Hyperammonemia, Oral aversion, Hyperuricemia, Weight loss, Anorexia, Agitation ORPHA:134
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Polydipsia ORPHA:251274
Arima Syndrome
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... OMIM:243910
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis ORPHA:369929
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Fetal pyelectasis, Nephrolithiasis, Megacystis, Recurrent urinary tract infections OMIM:619365
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:270150
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... ORPHA:99880
Tubulointerstitial Nephritis And Uveitis Syndrome
Scleritis, Weight loss, Anorexia, Elevated circulating C-reactive protein concentration, Tubuloin... ORPHA:91500
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concen... ORPHA:79273
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232240
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Hyperactivity ORPHA:760
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis OMIM:217090
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Attention deficit hyperactivity disorder, Enuresis, Abnormality of ... ORPHA:459061
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalcemic tetan... ORPHA:36913
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Hypocalcemia, Hyper... ORPHA:94093
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Polydipsia, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentration, Unilate... ORPHA:49041
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Failure to thrive, Ulcerati... ORPHA:79259
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia OMIM:239199
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Failure to thrive in infancy, Vesicoureteral reflux ORPHA:85285
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Failure to thrive OMIM:560000
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity OMIM:615996
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Obesity, Gout, Cholecystitis, Hyperuricemia, Hypercholesterolem... ORPHA:90041
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Proteinuria ORPHA:182050
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Molybdenum Cofactor Deficiency, Type C
Hypouricemia, Increased urinary taurine, Hypocystinemia, Neonatal death, Hypertaurinemia OMIM:615501
Fructose-1,6-Bisphosphatase Deficiency
Hyperuricemia, Neonatal hyperbilirubinemia, Hyperalaninemia, Increased urinary glycerol ORPHA:348
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Decreased HDL cholesterol concentration, Chronic active hepatitis... OMIM:203800
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Hypomagnesemia, Increased blood ur... OMIM:223360
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Nephrolithiasis ORPHA:93160
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Failure to thrive, Hydronephrosis, Dysphagia, Elevated circulating long chain fatt... OMIM:214100
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Addison Disease
Failure to thrive, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Decreased urinary potassiu... ORPHA:85138
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Nephrolithiasis, Hypokalemia, Abdominal obesity OMIM:219090
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss, Hypercalcemia ORPHA:97289
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria, Hyperammonemia, Hyperuricemia, Weight loss, Anorexia, Acute... ORPHA:20
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Neonatal death OMIM:613390
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... OMIM:618183
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Failure to thrive... OMIM:613404
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:610600
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Sebocystomatosis
Nephrolithiasis ORPHA:841
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Congenital Myopathy 19
Hydronephrosis, Renal atrophy, Dysphagia OMIM:618578
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy OMIM:314300
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Hematuria, Proteinuria, Elevated circula... OMIM:614034
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Smal... OMIM:222470
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:611773
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Hyperuricemia OMIM:308950
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ... ORPHA:416
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Recurrent a... ORPHA:397715
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hyperammonemia, Organic aciduria, Abnormal circulating leucine conc... ORPHA:6
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Nephrolithiasis OMIM:615474
Marcus-Gunn Syndrome
Nephrolithiasis ORPHA:91412
C Syndrome
Renal cortical cysts, Failure to thrive OMIM:211750
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Morgagni-Stewart-Morel Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Acne ORPHA:77296
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Failure to thrive OMIM:264350
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Erdheim-Chester Disease
Polydipsia, Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Weight loss, Dysuria ORPHA:35687
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Cocaine Intoxication
Acute kidney injury, Elevated circulating creatine kinase concentration, Hematuria, Proteinuria, ... ORPHA:90068
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia ORPHA:147
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Ketonuria, Glycosuria, Failure to thrive ORPHA:2089
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hyperlipidemia, Nephrolithiasis, Increased body weight, Renal c... ORPHA:189427
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention deficit hyperactivity di... OMIM:620141
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule... ORPHA:839
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Neonatal death OMIM:614870
Leukonychia Totalis
Blepharitis, Nephrolithiasis ORPHA:2387
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Bardet-Biedl Syndrome 4
Renal cyst, Obesity, Abnormality of the kidney OMIM:615982
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Failure to thrive OMIM:614736
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Panhypophysitis
Hyponatremia, Polydipsia, Hashimoto thyroiditis, Hyposthenuria ORPHA:95513
Mosaic Trisomy 1
Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias ORPHA:1692
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Obesity, Decreased urinary potassium, We... ORPHA:79102
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Mucopolysaccharidosis, Type X
Dermatan sulfate excretion in urine, Nephrolithiasis OMIM:619698
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tu... ORPHA:2088
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Wilson Disease
Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... OMIM:277900
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,... OMIM:301110
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Failure to thrive, Neonatal death, Hypertyrosinemia, Lacticaciduria, Tubulointerst... OMIM:124000
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency ORPHA:2668
Toxic Epidermal Necrolysis
Abnormality of the urethra, Polydipsia, Renal insufficiency, Weight loss, Pancreatitis, Dysphagia... ORPHA:537
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, E... OMIM:130650
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent pneumonia, Polydipsia, Recurrent urinary tract infection... ORPHA:731
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Endove Syndrome, Limb-Brain Type
Failure to thrive, Recurrent urinary tract infections, Osteomyelitis, Hydronephrosis, Neurogenic ... OMIM:619218
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Alkaptonuria
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... OMIM:203500
Cranioectodermal Dysplasia 1
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... OMIM:218330
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Failure to thrive, Elevated circulating phytanic acid concentration, Renal cyst, Con... OMIM:614866
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Cataract 47
Glycosuria OMIM:612018
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Webb-Dattani Syndrome
Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hypernatremia OMIM:615926
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Skin rash... ORPHA:542323
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Failure to thrive, Hydronephrosis, Attention deficit hyperactivity dis... OMIM:609757
Isolated Polycystic Liver Disease
Multiple renal cysts, Increased total bilirubin ORPHA:2924
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency... ORPHA:93552
Glucose/Galactose Malabsorption
Glycosuria, Failure to thrive OMIM:606824
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Elevated ci... ORPHA:36234
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia OMIM:613312
Glycogen Storage Disease Ixb
Hyperuricemia OMIM:261750
Dihydropyrimidinase Deficiency
Failure to thrive, Elevated circulating thymine concentration, Elevated urinary thymine level, El... OMIM:222748
Joubert Syndrome 20
Renal cyst, Aggressive behavior, Self-mutilation OMIM:614970
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux, Decreased body weight OMIM:618265
Systemic Capillary Leak Syndrome
Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Weight loss, Myoca... ORPHA:188
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Pearson Syndrome
Glycosuria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Proteinuria, Renal cyst, Hypokalem... ORPHA:699
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia OMIM:604367
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Small for gestational age, Congenital nephrotic syndrome, Renal insufficiency, H... OMIM:256300
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Failure to thrive, Elevated plasma pyrophosphate, Anore... OMIM:241500
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Mody
Nephropathy, Glycosuria, Obesity, Abnormal circulating C-peptide concentration, Large for gestati... ORPHA:552
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Wolfram Syndrome
Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, D... ORPHA:3463
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive OMIM:613735
Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Re... ORPHA:427
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs... OMIM:154230
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hydroneph... OMIM:617913
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin ... ORPHA:556037
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Weight loss, Nep... ORPHA:29073
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Pneumonia, Elevated circulating creatinine concentration, Skin rash, Proteinuria, Gl... ORPHA:247691
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Dysuria, Recurrent urinary tract infections ORPHA:284400
Developmental And Epileptic Encephalopathy 111
Nephrolithiasis OMIM:620504
Adamantinoma
Hypercalcemia ORPHA:55881
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Weight ... ORPHA:91139
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Ketonuria, Glycosuria OMIM:618857
Whipple Disease
Uveitis, Polydipsia, Infectious encephalitis, Hyponatremia, Myositis, Cachexia, Arthritis, Anorex... ORPHA:3452
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplica... OMIM:617093
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Recurrent pneumonia, Proteinuria,... OMIM:617303
Late-Onset Isolated Acth Deficiency
Hepatitis, Failure to thrive, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Weight loss, An... ORPHA:199299
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypercalcemia, Hypercalciuria, Hypospadias OMIM:614732
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin ... ORPHA:556030
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Ch... ORPHA:534
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Burkitt Lymphoma
Hyperuricemia ORPHA:543
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Obesity, Polydipsia ORPHA:3157
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Skin rash, Hydronephrosis, Erythroderma, Ectopic kidney ORPHA:634
Hypoplasminogenemia
Decreased level of plasminogen, Periodontitis, Cervicitis, Nephrolithiasis ORPHA:722
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Pancreatitis, Hyperuricemia, Hypertriglyceridemia ORPHA:79083
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... ORPHA:79473
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Polydipsia, Hypokalemia, Increased C-peptide level ORPHA:769
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Tubulointerstitial ... OMIM:607944
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivitis sicca, T... ORPHA:227990
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... OMIM:276700
Refractory Celiac Disease
Hypoalbuminemia, Inflammatory abnormality of the skin, Hypomagnesemia, Hypocalcemia, Hypophosphat... ORPHA:398063
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Renal insufficiency, Lymphocytic interstitial pne... ORPHA:289390
Blue Diaper Syndrome
Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia ORPHA:94086
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Igg4-Related Aortitis
Hydronephrosis, Increased inflammatory response, Weight loss, Elevated circulating C-reactive pro... ORPHA:449400
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Acute Intermittent Porphyria
Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinogen, Renal i... ORPHA:79276
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ... OMIM:618061
Fliedner-Zweier Syndrome
Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hydron... OMIM:620511
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Proteinuria, Increased body weig... ORPHA:263455
Sarcoidosis
Nephrocalcinosis, Parotitis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Keratoconjunct... ORPHA:797
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anorexia OMIM:175500
Transketolase Deficiency
Increased level of ribose in urine, Self-injurious behavior, Elevated circulating ribitol concent... ORPHA:488618
Legius Syndrome
Male urethral meatus stenosis, Nephroblastoma, Nephrolithiasis, Attention deficit hyperactivity d... ORPHA:137605
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Pneumonia, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipi... ORPHA:2298
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Decreased serum creatinine, Recurrent ski... OMIM:617744
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclitis, Kerato... ORPHA:227982
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Malar rash, Renal insufficiency, Hyperuricemia, Prot... ORPHA:191
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentra... OMIM:611489
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Horseshoe kidney, Nephrolithiasis, Hydronephrosis, Recurre... ORPHA:2953
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Familial Cold Urticaria
Conjunctivitis, Polydipsia, Arthritis ORPHA:47045
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts... OMIM:208500
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Cholera
Acute kidney injury, Aspiration pneumonia, Abnormal blood ion concentration, Hypocalcemia, Hypoka... ORPHA:173
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Nephrolithiasis, E... ORPHA:653
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia OMIM:614859
Microscopic Polyangiitis
Uveitis, Oliguria, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increased inflammator... ORPHA:727
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Hydronephrosis, Attention deficit hyperactivity disorder, Co... ORPHA:1727
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting, Failure to thrive OMIM:300200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, H... ORPHA:2237
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... ORPHA:230
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Gapo Syndrome
Nephrolithiasis ORPHA:2067
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce... ORPHA:159
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Nephrolithiasis ORPHA:521445
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Distal renal tubular acidosis, Renal tubular acidosis, Hypocalcemia, Nephrolit... ORPHA:2785
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Failure to thrive OMIM:617872
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... OMIM:211900
Familial Glucocorticoid Deficiency
Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Hyponatremia, Weight loss,... ORPHA:361
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts, Failure to thrive OMIM:614883
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Joubert Syndrome 37
Hydronephrosis, Obesity, Micropenis OMIM:619185
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Hydronephrosis, Dysphagia OMIM:618494
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... OMIM:220110
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration OMIM:109130
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Decreased uri... ORPHA:31826
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hyperphenylalaninemia, Abnormal circulating neopter... ORPHA:1578
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Renal cyst, Proximal tubulopathy, Failure to thrive OMIM:602579
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Obesity, Hyperlipidemia, Infectious encephalitis, Hyponatrem... ORPHA:293987
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss, Anorexia ORPHA:514
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Failure to thrive ORPHA:488613
Oculoskeletodental Syndrome
Renal agenesis, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia, Small for ges... OMIM:618440
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Nephrolithiasis OMIM:613848
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Keratitis, Episcleritis, Polyphagia, Hyperactivity ORPHA:525731
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Renal tubular dysfunction, Hypophosphatemia, O... OMIM:307800
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Wolfram Syndrome 1
Hydronephrosis, Neurogenic bladder, Hydroureter, Dysphagia OMIM:222300
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Lipodystrophy, Congenital Generalized, Type 1
Polycystic ovaries, Nephrolithiasis, Polyphagia, Hypertriglyceridemia, Acute pancreatitis OMIM:608594
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis, Hypercholesterolemia, Hyperammonemia OMIM:620454
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Failure to thrive, Hyperbilirubinemia, Dark urine, Abnormal serum bile acid... ORPHA:79303
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hyperphosphaturia, Hypocalcemia ORPHA:89937
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Bardet-Biedl Syndrome 12
Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia OMIM:615989
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Self-mutilation, Hydronephrosis, Aggressive behavior, Micropenis ORPHA:364028
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Kleefstra Syndrome
Self-injurious behavior, Obesity, Vesicoureteral reflux, Renal insufficiency, Self-mutilation, Hy... ORPHA:261494
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Keratoconjunctivitis sicca, Weight loss, Tubulointerstitial nephritis, Thyroiditis ORPHA:79078
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hematuria, Weight loss, Increased circulating surfactant protein level, ... ORPHA:60025
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Polycystic ovaries, Polyphagia, Hypertriglyceridemia, Elevated hemoglobin A1c, A... OMIM:269700
Kury-Isidor Syndrome
Hydronephrosis, Recurrent otitis media, Attention deficit hyperactivity disorder OMIM:619762
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Neonatal death, Renal cyst, Stillb... OMIM:614922
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Recurrent pneumonia, Failure to thrive, Stereotypical hand wringing OMIM:619179
Suleiman-El-Hattab Syndrome
Hydronephrosis, Failure to thrive OMIM:618950
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,... ORPHA:2970
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... ORPHA:391641
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Elevated circulating creatine kinase concentration, Hydronephrosis, Microp... OMIM:301056
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa... OMIM:308940
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the urinary system physiology, Keratoconjunctivitis, Pr... ORPHA:2552
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Nephrolithiasis, Prostatitis, Arth... ORPHA:56
Johanson-Blizzard Syndrome
Failure to thrive, Hydronephrosis, Hypoplasia of penis, Hypospadias, Hypoproteinemia ORPHA:2315
Porphyria, Acute Intermittent
Urinary incontinence, Elevated urinary delta-aminolevulinic acid, Dysuria, Urinary retention OMIM:176000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Self-injurious behavior, Abnormality of the urinary system, Failure to thrive, Abnorma... ORPHA:353281
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol ... OMIM:618885
Diabetic Embryopathy
Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia ORPHA:1926
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Elevated circulating C-reactive pro... ORPHA:449427
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Beckwith-Wiedemann Syndrome
Nephropathy, Obesity, Large for gestational age, Vesicoureteral reflux, Nephroblastoma, Nephrolit... ORPHA:116
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hypercalcemia OMIM:156400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death OMIM:314390
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Hematuria, Proteinuria, Glomerul... ORPHA:900
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Esophagitis, Hydronephrosis, Decreased serum zinc ORPHA:541423
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent u... ORPHA:79404
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia OMIM:236500
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr... ORPHA:314588
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Dysphagia, Arthritis ORPHA:220393
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, Hypospadias OMIM:605231
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Al-Gazali Syndrome
Hydronephrosis, Recurrent pneumonia, Failure to thrive OMIM:609465
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Renal cyst OMIM:614862
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus ORPHA:3378
ERI1-related disease
Failure to thrive, Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Small for gestat... OMIM:608739
Lassa Fever
Conjunctivitis, Oliguria, Dysphagia ORPHA:99824
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Decreased body weight, Elevated cir... ORPHA:800
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Micropenis, Hypospadias, Small for gestational age OMIM:616897
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Cystic Fibrosis
Decreased body mass index, Failure to thrive, Nephrolithiasis, Sinusitis, Bronchiectasis ORPHA:586
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Recurrent pancreatitis, Hypercholesterolemia, Polyuria, Hypertriglyceridemia, ... OMIM:606721
Oncogenic Osteomalacia
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Hypocalcemia ORPHA:352540
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre... OMIM:612736
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Ent... ORPHA:289176
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... ORPHA:26791
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Obesity, Periodontitis OMIM:619269
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Elev... OMIM:311250
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Hypospadias, Hemolytic-uremic ... OMIM:611209
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Elevated 8(9)-cholestenol, Hydronephrosis, Erythroderma, Elevated 8-dehydrocho... OMIM:302960
Trisomy X
Attention deficit hyperactivity disorder, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Failure to thrive, Neonatal death OMIM:608104
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypos... ORPHA:90791
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral ... OMIM:618460
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia OMIM:235255
Eisenmenger Syndrome
Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Renal insu... ORPHA:97214
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Hypocalcemia, Hyponatremia, D... ORPHA:544482
Schinzel-Giedion Syndrome
Recurrent pneumonia, Failure to thrive in infancy, Abnormality of the ureter, Nephroblastoma, Nep... ORPHA:798
Williams Syndrome
Overfriendliness, Polycystic ovaries, Chronic otitis media, Failure to thrive in infancy, Obesity... ORPHA:904
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Failure to thrive ORPHA:912
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Visceral Myopathy 1
Urinary retention, Megacystis, Vesicoureteral reflux, Hydronephrosis, Pancreatitis, Dysphagia OMIM:155310
Koolen-De Vries Syndrome
Vesicoureteral reflux, Renal duplication, Overfriendliness, Hydronephrosis, Ureteral duplication,... ORPHA:96169
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Failure to thrive, Glycosuria, Renal tubular dysfunction OMIM:616539
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria, Failure to thrive OMIM:617140
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis OMIM:619351
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication, Large for gestational age OMIM:610733
Verheij Syndrome
Renal cyst, Renal hypoplasia, Small for gestational age, Renal agenesis OMIM:615583
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Hypercalciuria, Weight loss, Anorexia, Hypercalcemia ORPHA:652
Lujo Hemorrhagic Fever
Oliguria, Renal insufficiency, Skin rash, Maculopapular exanthema, Dysphagia, Myocarditis, Elevat... ORPHA:319213
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hydronephrosis, Abnormal renal morphology, Micropenis, Hypoproteinemia ORPHA:1655
Zaki Syndrome
Hydronephrosis, Renal agenesis OMIM:619648
Czeizel-Losonci Syndrome
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis ORPHA:2437
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Renal tubular dysfunction, Abnorm... ORPHA:99885
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia OMIM:163200
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,... ORPHA:2473
Microphthalmia, Lenz Type
Self-injurious behavior, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis, Hypospadias ORPHA:568
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... ORPHA:90795
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Erysipelas, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Hyperactivi... OMIM:235510
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Dysphagia ORPHA:101000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large for gestational age, Renal cyst, Hypercal... OMIM:615398
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Failure to thrive, Neonatal death OMIM:311900
Sepsis In Premature Infants
Oliguria, Reversible renal failure, Decreased body weight, Enterocolitis, Elevated circulating C-... ORPHA:90051
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, A... ORPHA:1225
Koolen-De Vries Syndrome
Eczematoid dermatitis, Failure to thrive, Recurrent urinary tract infections, Vesicoureteral refl... OMIM:610443
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Zimmermann-Laband Syndrome 1
Long penis, Nephrolithiasis OMIM:135500
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne OMIM:167100
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Renal atrophy, Vesicoureteral reflux, Aggressive behavior, Attention deficit hyperactivity disord... OMIM:618659
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Attention deficit hyperactivity disorder, Vesicoureteral reflux, Failure to thrive ORPHA:250989
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Neurogenic bladder, Failure to thrive, Elevated circulating creatine kinase conce... OMIM:608779
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Self-injurious behavior, Abnormality of the urinary system, Failure to thrive, Abnorma... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Self-injurious behavior, Abnormality of the urinary system, Failure to thrive, Abnorma... ORPHA:353277
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Marburg Hemorrhagic Fever
Hypoalbuminemia, Uveitis, Elevated circulating creatinine concentration, Renal insufficiency, Hyp... ORPHA:99826
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral... OMIM:614080
Congenital Myopathy 17
Hydronephrosis, Failure to thrive in infancy, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias OMIM:268310
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Aspiration pneumonia, Vesicoureteral reflux, Nephrolith... ORPHA:438213
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Attention deficit hyperactivity disorder, Micropenis OMIM:612513
Cystic Echinococcosis
Hyperbilirubinemia, Hepatic cysts, Ovarian cyst, Renal cyst, Weight loss, Membranous nephropathy ORPHA:400
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hydronephrosis, Attention deficit hyperactivity ... ORPHA:261349
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Failure to thrive, Megacystis, Abnormal eating behavior, Vesicoureteral refl... ORPHA:209905
Congenital Disorder Of Glycosylation, Type It
Hepatitis, Recurrent otitis media, Elevated circulating creatine kinase concentration, Hydronephr... OMIM:614921
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Glycosuria, Myositis, Hashimoto thyroiditis, Dysphagia ORPHA:589
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro... OMIM:300707
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Hyponatremia, Cachexia... ORPHA:275761
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux OMIM:620662
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Vesicoureteral reflux, Hydronephrosis, Motor stereotypy, Micropenis, Pelvic kidney OMIM:618653
Yellow Fever
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R... ORPHA:99829
Monosomy 22Q13.3
Bruxism, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hair-pulling, Hydronephrosis, ... ORPHA:48652
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ... ORPHA:168558
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Neonatal death, Hydronephrosis, Pelvic kidney, Renal malrotation OMIM:601186
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Failure to thrive, Hydronephrosis, Renal cyst, Motor ster... ORPHA:464311
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Hydronephrosis, Attention deficit hyperactivity disorder, Micr... ORPHA:96092
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Recurrent pneumonia, Hypospadias OMIM:616449
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney OMIM:613001
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis, Pustule, Peritonit... ORPHA:73263
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ... ORPHA:289548
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Atopic dermatitis, Failure to thrive, Hypomagnesemia, Recurrent otitis... OMIM:619503
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Erythroderma ORPHA:35173
3C Syndrome
Hydronephrosis, Hypoplasia of penis, Hypospadias ORPHA:7
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Compulsive beh... OMIM:618454
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Polycystic kidney dyspla... OMIM:214110
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Osteogenesis Imperfecta
Nephrolithiasis, Hypercalciuria, Osteoarthritis, Dysphagia, Small for gestational age ORPHA:666
Carpenter Syndrome 1
Hydronephrosis, Obesity, Hydroureter OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Eczematoid dermatitis, Failure to thrive, Hydronephrosis,... ORPHA:464306
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication OMIM:104350
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Cat Eye Syndrome
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Renal agenesis OMIM:115470
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Recurrent urinary tract infections, Infectious encephalitis, Hydronephro... ORPHA:847
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Low-molecular-weight... OMIM:309000
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Failure to thrive, Hyperbilirubinemia, Punctate keratitis, Renal Fanco... OMIM:557000
Mccune-Albright Syndrome
Renal phosphate wasting, Hepatitis, Hyperphosphaturia, Renal tubular dysfunction, Ovarian cyst, H... ORPHA:562
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Oliguria ORPHA:1054
Listeriosis
Pneumonia, Acute kidney injury, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectio... ORPHA:533
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis OMIM:617798
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Failure to thrive ORPHA:2995
Distal Deletion 12Q
Failure to thrive in infancy, Obesity, Vesicoureteral reflux, Obsessive-compulsive trait, Self-mu... ORPHA:96149
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,... OMIM:616580
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py... OMIM:301068
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Hypocholesterolemia, Proteinuria, Renal... OMIM:212065
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... ORPHA:90349
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Failure to thrive, Bruxism, Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hydronephrosis, Vesicoureteral reflux OMIM:620663
Raine Syndrome
Hydronephrosis, Hypophosphatemia, Hydroureter, Neonatal death OMIM:259775
Floating-Harbor Syndrome
Abnormal temper tantrums, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage... ORPHA:2044
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Obesity, Hydronephrosis, Aggress... ORPHA:96121
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia OMIM:300712
Seckel Syndrome 10
Elevated hemoglobin A1c, Acute pancreatitis, Glycosuria, Hypertriglyceridemia OMIM:617253
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia ORPHA:99776
Intellectual Developmental Disorder, Autosomal Dominant 42
Phonic tics, Failure to thrive, Ureteropelvic junction obstruction, Hydronephrosis, Aggressive be... OMIM:616973
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Elevated 8(9)-cholestenol, Hydronephrosis, Stillbirth, Elevated 8-dehy... OMIM:308050
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias OMIM:616737
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Recurrent otitis media, Obesity, Hydronephrosis, Attention deficit... OMIM:619426
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... OMIM:146510
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Gabriele-De Vries Syndrome
Hydronephrosis, Attention deficit hyperactivity disorder, Ureteropelvic junction obstruction OMIM:617557
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Failure to thrive ORPHA:2115
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Obesity, Renal cyst, Hypercalciuria, Hypertr... ORPHA:369837
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Hydronephrosis, Micropenis, Motor stereotypy OMIM:301040
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology ORPHA:314585
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis, Aggressive behavior, Hypospadias ORPHA:464738
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis OMIM:272950
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Kabuki Syndrome
Abnormal localization of kidney, Failure to thrive, Crossed fused renal ectopia, Obesity, Uretero... ORPHA:2322
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive ORPHA:444072
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency, Failure to thrive OMIM:608091
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Immunodeficiency 96
Recurrent otitis media, Multicystic kidney dysplasia, Eczematoid dermatitis OMIM:619774
Hereditary Hemorrhagic Telangiectasia
Hematuria, Cholecystitis, Nephrolithiasis ORPHA:774
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts,... ORPHA:2750
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Hydronephrosis, ... OMIM:251260
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Recurrent urinary tract infections, Otitis media, Hydronephrosis, Perianal abs... OMIM:612541
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Decreased circulating ceruloplasmin c... OMIM:304150
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Abnormal renal collecting system morphology, Hydroureter, Unilate... ORPHA:280633
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerul... OMIM:267010
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia, Stillbirth OMIM:615415
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Otopalatodigital Syndrome Type 2
Hydronephrosis, Ureteral obstruction, Hypospadias, Failure to thrive ORPHA:90652
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis OMIM:181270
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Cardiofaciocutaneous Syndrome 1
Hydronephrosis, Atopic dermatitis, Tongue thrusting, Failure to thrive OMIM:115150
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Horseshoe kidney, Obesity, Vesicoure... ORPHA:110
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atresia, Neonatal de... OMIM:208540
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB... ORPHA:466677
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Eczematoid dermatit... OMIM:270400
Eec Syndrome
Keratitis, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Inf... ORPHA:1896
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... ORPHA:466650
Vater/Vacterl Association
Renal agenesis, Failure to thrive, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hyd... OMIM:192350
Liver Disease, Severe Congenital
Recurrent otitis media, Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Aminoaciduria, Eczemato... OMIM:619991
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Tuberous Sclerosis Complex
Chronic kidney disease, Self-injurious behavior, Stage 5 chronic kidney disease, Renal insufficie... ORPHA:805
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Recurrent pneumonia, Fixated interests, Eczematoid dermatitis, Hypocalce... OMIM:620330
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Joubert Syndrome 1
Nephropathy, Self-mutilation, Renal cyst, Aggressive behavior, Hyperactivity OMIM:213300
Focal Dermal Hypoplasia
Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:2092
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Failure to thrive ORPHA:2886
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... OMIM:618733
Melnick-Needles Syndrome
Failure to thrive, Ureteral stenosis, Recurrent otitis media, Hydronephrosis, Stillbirth OMIM:309350
Opitz Gbbb Syndrome
Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis, Dysphagia, Recurrent as... ORPHA:2745
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss ORPHA:100078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Hyperkalemia, Hypernatriuria, Failure to thrive, Hyponatremia, Weight loss, Urogenita... ORPHA:90794
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Failure to thrive, Hyperechogenic kidneys, Incre... OMIM:619534
Digeorge Syndrome
Unilateral renal agenesis, Recurrent pneumonia, Recurrent otitis media, Obesity, Renal insufficie... OMIM:188400
Caroli Disease
Weight loss, Conjugated hyperbilirubinemia, Anorexia, Cholangitis, Polycystic kidney dysplasia ORPHA:53035
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blepharitis, Hydroureter, Renal agenesis, Ureterocele, Megacystis, Vesicoureteral reflux, Hydrone... OMIM:604292
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Cardiofaciocutaneous Syndrome
Hydronephrosis, Failure to thrive in infancy ORPHA:1340
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Joubert Syndrome 39
Overweight, Polycystic kidney dysplasia OMIM:619562
Leprechaunism
Nephrocalcinosis, Long penis, Failure to thrive, Decreased body weight, Hypokalemia, Hypercalciur... ORPHA:508
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Renal cyst OMIM:615560
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract, Cachexia ORPHA:3380
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Inappropriate laughter, Self-mutilation, Aggressive behavior, Ureter... ORPHA:457212
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria, Hypophosphatemia, Arthritis, Enthesitis ORPHA:89936
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co... OMIM:615287
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid... OMIM:258040
Koolen-De Vries Syndrome Due To A Point Mutation
Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis media, Slender build,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis media, Slender build,... ORPHA:363958
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Cousin Syndrome
Hydronephrosis OMIM:260660
Fryns Syndrome
Renal agenesis, Large for gestational age, Hydronephrosis, Renal cyst, Stillbirth, Ureteral dupli... OMIM:229850
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Abnormal localization of kidney, Multicystic kidney dysplasia, Ureterope... ORPHA:818
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Dubowitz Syndrome
Hydronephrosis, Attention deficit hyperactivity disorder, Hypospadias, Eczematoid dermatitis ORPHA:235
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Blepharitis, Hydroureter, Renal agenesis, Ureterocele, Vesicoureteral reflux, Hydronephrosis, Bla... OMIM:129900
Cornelia De Lange Syndrome 1
Pneumonia, Self-injurious behavior, Renal hypoplasia, Reduced renal corticomedullary differentiat... OMIM:122470
Joubert Syndrome 14
Renal cyst OMIM:614424
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Failure to thrive, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias OMIM:269150
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, Hydronephrosis, Urete... ORPHA:79328
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatitis, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia, Increased circulating thyro... OMIM:610199
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Recurrent pneumonia, Multiple bladder diverticula OMIM:613177
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur... OMIM:619522
Apert Syndrome
Hydronephrosis, Acne, Chronic otitis media OMIM:101200
Trisomy 8P
Hydronephrosis, Nephrocalcinosis, Fetal pyelectasis, Micropenis ORPHA:264450
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Micropenis, Hypospadias, Small for gest... OMIM:257300
1P36 Deletion Syndrome
Self-injurious behavior, Failure to thrive, Obesity, Hydronephrosis, Renal cyst, Motor stereotypy... ORPHA:1606
Alveolar Echinococcosis
Cutaneous abscess, Hepatic cysts, Abnormal bladder morphology, Renal cyst, Weight loss, Cholangit... ORPHA:284
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Violent behavior, Large for gestational age, Ureteropelvic junction obstruction, Hydronephrosis, ... OMIM:280000
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Tuberous Sclerosis 1
Attention deficit hyperactivity disorder, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias ORPHA:487796
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Small for gestational age ORPHA:97360
Tetrasomy 9P
Inappropriate behavior, Recurrent urinary tract infections, Horseshoe kidney, Glue ear, Hydroneph... ORPHA:3310
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Attention deficit hyperactivity disorder, Eczematoi... ORPHA:2308
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bronchiectasis, Bladder diverticulum ORPHA:90348
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Tuberous Sclerosis 2
Renal angiomyolipoma, Attention deficit hyperactivity disorder, Renal cyst, Renal cell carcinoma,... OMIM:613254
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Chronic otitis media, Hypoplasia of penis ORPHA:1507
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Ureteropelvic junction obstruction, Hydronephrosis, Attention deficit ... ORPHA:506358
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Renal cyst, Failure to thrive OMIM:261515
Frontometaphyseal Dysplasia
Hydronephrosis, Ureteral obstruction, Urethral stenosis ORPHA:1826
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hydronephrosis, Bruxism, Vesicoureteral reflux ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hydronephrosis, Bruxism, Vesicoureteral reflux ORPHA:352665
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, Nephrotic syndrome, Recurrent skin infections OMIM:601776
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Floating-Harbor Syndrome
Atopic dermatitis, Nephrocalcinosis, Glandular hypospadias, Recurrent otitis media, Hydronephrosi... OMIM:136140
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm ORPHA:538
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Eczematoid dermatitis, Keratitis, Failure to thrive, Episcleritis, Hydronephrosis, A... ORPHA:2273
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Cystic Fibrosis
Recurrent pneumonia, Failure to thrive, Chronic sinusitis, Hypercalciuria, Pancreatitis, Bronchie... OMIM:219700
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia OMIM:617260
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Urethral diverticulum OMIM:212093
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Hydronephrosis, Ureteral duplication, ... ORPHA:373
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Renal hypoplasia, Azotemia, Abdominal obesity OMIM:619321
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Large for gestational age, Nephroblastoma, Renal cyst, Renal malro... OMIM:617107
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczematoid dermatitis, Failure to thrive, Superficial dermal perivascular inflammatory infiltrate... ORPHA:83617
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Keratoconjunctivitis, Keratoconjunctivit... ORPHA:2363
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Recurrent otitis media, Hydronephrosis, Dysphagia, Conjunctiv... OMIM:616268
Syndromic Diarrhea
Renal hypoplasia, Colitis, Gastritis, Abnormality of iron homeostasis, Polycystic kidney dysplasi... ORPHA:84064
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Hypercalciuria, Weight loss, Arthritis, Anore... OMIM:181000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Reduced... OMIM:266920
Joubert Syndrome 21
Renal cyst, Dysphagia, Chronic sinusitis, Hyperechogenic kidneys OMIM:615636
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Stillbirth OMIM:616300
Okamoto Syndrome
Urinary incontinence, Hydronephrosis, Unilateral renal hypoplasia, Ureteropelvic junction obstruc... ORPHA:2729
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma, Myocarditis, Ep... ORPHA:892
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Osteomyelitis ORPHA:232
Sotos Syndrome
Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction... ORPHA:821
Charge Syndrome
Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Attention deficit hyperactivity disorder... ORPHA:138
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Recurrent otitis media, F... OMIM:194050
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma OMIM:193300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Neonatal death, Hydroneph... OMIM:265380
Caroli Syndrome
Hyperbilirubinemia, Pancreatitis, Cholangitis, Abnormality of the kidney, Polycystic kidney dyspl... ORPHA:480520
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormal temper tantrums, Hypocalciuria, Hypophosphaturia, Aggressive behavior, Attention deficit... ORPHA:73223
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Rubinstein-Taybi Syndrome 1
Failure to thrive, Self-mutilation, Hydronephrosis, Hyperactivity, Truncal obesity, Hypospadias, ... OMIM:180849
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Slender build, Wid... ORPHA:3455
Campomelic Dysplasia
Hydronephrosis, Hypospadias, Failure to thrive OMIM:114290
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Glycosuria, Failure to thrive OMIM:600001
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Hydronephrosis, Aggressive behavior, Ectopic kidney, Compulsive be... OMIM:135900
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal renal morphology, Attention deficit hyperactiv... ORPHA:363700
Kabuki Syndrome 1
Recurrent otitis media, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Hydronep... OMIM:147920
Johanson-Blizzard Syndrome
Small for gestational age, Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentrat... OMIM:243800
Charge Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Hypocalcemia, Self-mutilation, Hydronephrosis... OMIM:214800
Hydrolethalus Syndrome 1
Hydronephrosis, Hypospadias, Stillbirth OMIM:236680
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Hyperbilirubinemia, Renal insufficiency, Renal cyst, Cholangitis OMIM:613610
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Dysphagia OMIM:606170
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Failure to thrive, Renal cyst OMIM:102500
Histiocytoid Cardiomyopathy
Renal cyst, Failure to thrive, Polycystic ovaries ORPHA:137675
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... ORPHA:709
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Attention deficit hyperactivity disorder, Vesicoureteral reflux, Hypospadias OMIM:616975
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Micropenis, Renal duplication OMIM:180700
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Attention deficit hyperactivity disorder, Keratoconjunctivitis sicca, Aggressive beha... ORPHA:495875
Atypical Werner Syndrome
Glycosuria, Failure to thrive, Decreased body weight, Hypertriglyceridemia, Renal neoplasm ORPHA:79474
Acrofacial Dysostosis, Cincinnati Type
Failure to thrive, Recurrent otitis media, Decreased body weight, Hydronephrosis, Dysphagia OMIM:616462
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Failure to thrive, Recurrent otitis media, Bruxism, V... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Recurrent otitis media, Bruxism, Vesicoureteral reflu... ORPHA:2152
Focal Dermal Hypoplasia
Hydronephrosis, Ureteral duplication, Bifid ureter, Horseshoe kidney OMIM:305600
Peters-Plus Syndrome
Renal hypoplasia, Decreased body weight, Hydronephrosis, Ureteral duplication, Hypospadias OMIM:261540
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Failure to thrive in infancy, Medullary nephrocalcin... ORPHA:51608
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Renal cyst, Hypospadias, Enlarged ki... OMIM:312870
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Failure to thrive, Recur... ORPHA:261552
Otopalatodigital Syndrome, Type Ii
Hydronephrosis, Hypospadias, Stillbirth OMIM:304120
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Failure to thrive, Hyperbilirubinemia, Renal cyst, Stillbirth, Micropenis, Poly... OMIM:210710
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Cyst of the ductus choledochus, Renal dysplasia ORPHA:480880
Viss Syndrome
Atopic dermatitis, Eczematoid dermatitis, Failure to thrive, Chronic gastritis, Hydronephrosis, D... OMIM:619472
Proteus Syndrome
Long penis, Enlarged polycystic ovaries, Renal cyst, Cachexia, Enlarged kidney ORPHA:744
Branchiooculofacial Syndrome
Renal cyst, Hypospadias, Renal agenesis OMIM:113620
Pallister-Killian Syndrome
Obesity, Renal cyst, Stillbirth, Hypospadias, Renal dysplasia OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc2a9

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc2a9.

No publications found that use IMPC mice or data for Slc2a9.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc2a9tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc2a9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Slc2a9tm44760(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc2a9tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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