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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,  SLC2a9A,  SLC2A9B

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
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... 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
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra OMIM:300323
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Uric acid nep... ORPHA:411543
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia, Gout ORPHA:510
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria, Pancreatitis OMIM:145980
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... ORPHA:261222
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia OMIM:613882
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... ORPHA:18
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Nephrolithiasis, Cystinuria ORPHA:163693
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr... OMIM:260005
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Central Diabetes Insipidus
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia ORPHA:178029
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior, Hyperuricemia, Dysph... OMIM:300322
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Sucrase-Isomaltase Deficiency, Congenital
Nephrolithiasis OMIM:222900
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Cystinuria
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis ORPHA:214
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... ORPHA:199343
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu... ORPHA:223
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... OMIM:251000
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Autosomal Dominant Hypocalcemia
Eczema, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hyperm... ORPHA:428
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... ORPHA:73224
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... ORPHA:213
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polyuria, Megacystis, Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polyuria, Megacystis, Polydipsia, Hypernatremia OMIM:304800
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity OMIM:616629
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Hypotonia-Cystinuria Syndrome
Polyphagia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cystine crystalluria OMIM:606407
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephropathy, Nephrolithiasis ORPHA:2196
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst OMIM:615987
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu... ORPHA:35710
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Urolithiasis, Gout, Hyperuricosuria,... OMIM:300661
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti... OMIM:145001
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... OMIM:246450
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... OMIM:232800
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circu... OMIM:612780
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypoplasia of penis, Hypospadias, Nephrolithiasis ORPHA:1816
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ... OMIM:263800
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive OMIM:614582
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... ORPHA:488627
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hyp... ORPHA:358
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... ORPHA:157215
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Hyperactivity, Nephrolithiasis, Aggressive behavior OMIM:620023
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia OMIM:615986
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric... OMIM:232200
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis OMIM:615994
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... OMIM:616026
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulo... ORPHA:139402
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... OMIM:252150
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... OMIM:263200
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... OMIM:203800
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... ORPHA:183
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre... OMIM:615993
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Glycogen Storage Disease Ib
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammat... OMIM:232220
Flotch Syndrome
Inflammatory abnormality of the eye, Nephrolithiasis, Blepharitis ORPHA:2045
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Small for gestational age, Abnorm... OMIM:616733
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Weight loss ORPHA:95626
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Increased serum prostaglandin E2, Renal sa... OMIM:241200
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, Decreased urinary potas... ORPHA:95409
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth... OMIM:617321
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Increased serum prostaglandin E2, Renal sa... OMIM:601678
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Mpdu1-Cdg
Eczema, Elevated circulating creatine kinase concentration, Renal cortical cysts ORPHA:79323
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... OMIM:241530
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... OMIM:239000
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... OMIM:252160
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ... ORPHA:340
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Elevated circulating creatine kinase concentration, Dysphagia ORPHA:352447
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:143
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Renal cortical cysts, Erythroderma OMIM:609180
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Anorexia, Chronic ... ORPHA:330015
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Glycogen Storage Disease Iv
Failure to thrive, Tubulointerstitial fibrosis OMIM:232500
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Beta-Ketothiolase Deficiency
Ketonuria, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral aversion ORPHA:134
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:99880
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Familial Hyperaldosteronism Type Iii
Hypokalemia, Polydipsia, Hypercalciuria ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... OMIM:619743
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Decreased urinary urate, Hypouricemia ORPHA:760
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Polydipsia, Increased urinary potassium ORPHA:231580
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis ORPHA:369929
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney, Attention deficit hyperactivit... ORPHA:459061
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Anorexia, Renal interstitial edema, Steril... ORPHA:91500
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Gout, Hematuria, Focal se... OMIM:232240
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hy... ORPHA:36913
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... ORPHA:49041
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive OMIM:239199
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Thyroiditis, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic ... ORPHA:79259
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis ORPHA:85285
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria OMIM:560000
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia, Obesity OMIM:615996
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive OMIM:602722
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Gout, Nephrocalcinosis, Hypernatriuria, Hyperproteinem... ORPHA:90041
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Oliguria, Abnormal blood ion concentration, Hypop... ORPHA:31824
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Joubert Syndrome 5
Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ... OMIM:610188
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Increased urinary glycerol, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Nephrolithiasis, Hypophosphatemia ORPHA:93160
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Increased urinary taurine, Hypertaurinemia, Neonatal death, Hypocystinemia OMIM:615501
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:203400
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Dysphagia, Elevated circulating long chain fatty acid co... OMIM:214100
Addison Disease
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Decreased urinary potassium, Renal salt wast... ORPHA:85138
Orthostatic Hypotension 1
Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Fanconi Anemia, Complementation Group O
Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:610600
Heme Oxygenase 1 Deficiency
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... OMIM:614034
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Sebocystomatosis
Nephrolithiasis ORPHA:841
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ketonuria, Anorexia, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, ... ORPHA:20
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Weight loss ORPHA:97289
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Congenital Myopathy 19
Renal atrophy, Hydronephrosis, Dysphagia OMIM:618578
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Hyperuricemia OMIM:308950
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Hypokalemia, Nephrolithiasis, Obesity OMIM:219090
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... OMIM:277900
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting OMIM:264350
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Failure to thrive... ORPHA:397715
Marcus-Gunn Syndrome
Nephrolithiasis ORPHA:91412
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Trichohepatoenteric Syndrome 1
Small for gestational age, Hypospadias, Galactosuria, Hypoalbuminemia, Increased serum iron, Abno... OMIM:222470
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss ORPHA:90060
C Syndrome
Failure to thrive, Renal cortical cysts OMIM:211750
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Obesity, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Weight loss, Polydipsia, Hydronephrosis ORPHA:35687
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Acne, Hyperlipidemia, Increased body weight, Nephrolithiasis, R... ORPHA:189427
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Leukonychia Totalis
Blepharitis, Nephrolithiasis ORPHA:2387
Dihydropyrimidinase Deficiency
Elevated circulating uracil concentration, Uraciluria, Elevated circulating thymine concentration... OMIM:222748
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst, Obesity OMIM:615982
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting OMIM:614736
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Mucopolysaccharidosis, Type X
Nephrolithiasis, Dermatan sulfate excretion in urine OMIM:619698
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Panhypophysitis
Hyponatremia, Polydipsia, Hyposthenuria, Hashimoto thyroiditis ORPHA:95513
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting OMIM:619406
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Neona... OMIM:124000
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Failure to thrive, Hydrone... OMIM:619218
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Pancreatic cy... ORPHA:731
Alkaptonuria
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... OMIM:130650
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Conjunctivitis, Dysphagia,... ORPHA:537
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... ORPHA:79102
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Unilateral renal agenesis, Attention deficit hyperactivity disorder, C... OMIM:609757
Webb-Dattani Syndrome
Neurogenic bladder, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis OMIM:615926
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Elevated circulating phyta... OMIM:614866
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb... ORPHA:542323
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... OMIM:608836
Glycogen Storage Disease Ixb
Hyperuricemia OMIM:261750
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... ORPHA:93552
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Glomerulonephritis, Elevated ... ORPHA:36234
Joubert Syndrome 20
Self-mutilation, Renal cyst, Aggressive behavior OMIM:614970
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis, Decreased body weight OMIM:618265
Isolated Polycystic Liver Disease
Multiple renal cysts, Increased total bilirubin ORPHA:2924
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Hypercalciu... OMIM:241500
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... OMIM:617913
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... OMIM:613179
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hepatitis, Weight loss, Hyperuricemia, Failu... ORPHA:199299
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis OMIM:613735
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... ORPHA:556037
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries OMIM:604367
Wolfram Syndrome
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... ORPHA:3463
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... OMIM:154230
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Abnormality of the bla... ORPHA:29073
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria ORPHA:284400
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:617303
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Glomerular scle... ORPHA:247691
Pearson Syndrome
Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena... ORPHA:699
Adamantinoma
Hypercalcemia ORPHA:55881
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Micropenis, Hypospadias, Hypercalciuria OMIM:614732
Whipple Disease
Hyponatremia, Myositis, Pericarditis, Cachexia, Anorexia, Myocarditis, Uveitis, Arthritis, Polydi... ORPHA:3452
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Compulsive beh... ORPHA:534
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Pancreatitis, Abnormal ren... ORPHA:188
Burkitt Lymphoma
Hyperuricemia ORPHA:543
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... ORPHA:556030
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia, Obesity ORPHA:3157
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Periodontitis, Nephrolithiasis ORPHA:722
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... ORPHA:2088
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo... OMIM:617093
Rabson-Mendenhall Syndrome
Long penis, Nephrocalcinosis, Hypokalemia, Polydipsia, Increased C-peptide level ORPHA:769
Netherton Syndrome
Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis ORPHA:634
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries ORPHA:79083
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Trisomy X
Multicystic kidney dysplasia, Attention deficit hyperactivity disorder, Renal hypoplasia/aplasia ORPHA:3375
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Alkaptonuria
Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis ORPHA:56
Refractory Celiac Disease
Inflammatory abnormality of the skin, Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemi... ORPHA:398063
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... ORPHA:227990
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Recurrent sinusitis, Rheumatoid arthritis, Recurrent otitis media, Juvenile rheumatoid... OMIM:607944
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia ORPHA:94086
Igg4-Related Aortitis
Increased inflammatory response, Hydronephrosis, Elevated circulating C-reactive protein concentr... ORPHA:449400
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... ORPHA:90038
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... ORPHA:289390
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... ORPHA:227982
Transketolase Deficiency
Increased level of ribose in urine, Seborrheic dermatitis, Uveitis, Renal cyst, Self-injurious be... ORPHA:488618
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Sarcoidosis
Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Erythema nodosum, Nephrolithiasis, H... ORPHA:797
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
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
Recurrent skin infections, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidn... ORPHA:2953
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper... ORPHA:653
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Familial Cold Urticaria
Arthritis, Polydipsia, Conjunctivitis ORPHA:47045
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney... OMIM:208500
Microscopic Polyangiitis
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... ORPHA:727
Adrenal Hypoplasia, Congenital
Hyponatremia, Failure to thrive, Renal salt wasting OMIM:300200
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Obesity, Low urinary cyclic AMP response to PTH administration OMIM:603233
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido... ORPHA:2785
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Hypocalc... ORPHA:2237
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hy... OMIM:617744
22Q11.2 Duplication Syndrome
Urethral stenosis, Compulsive behaviors, Attention deficit hyperactivity disorder, Displacement o... ORPHA:1727
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Proteinuria, Abnormality of body weight, Pneumonia, Ski... ORPHA:2298
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Abnormality of the kidney ORPHA:521445
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Osteoarthritis, Renal phosphate wasting, Renal tubula... OMIM:307800
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... ORPHA:79403
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Rhinitis, Increas... ORPHA:230
Gapo Syndrome
Nephrolithiasis ORPHA:2067
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia OMIM:614859
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, Multiple renal cysts, Renal cyst OMIM:614883
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium OMIM:611489
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Bronchiectasis, Weight loss,... ORPHA:60025
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... ORPHA:31826
Joubert Syndrome 37
Micropenis, Hydronephrosis, Obesity OMIM:619185
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Wei... ORPHA:361
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Polyphagia, Enuresis, S... ORPHA:293987
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Dysphagia, Recurrent otitis media, Hydronephrosis OMIM:618494
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Obesit... ORPHA:552
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Proximal tubulopathy, Hypoalbuminemia, Renal cyst OMIM:602579
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hydronephrosis, Dysphagia OMIM:222300
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia, Weight loss ORPHA:514
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Pediatric-Onset Graves Disease
Episcleritis, Hyperactivity, Keratitis, Polydipsia, Failure to thrive, Polyphagia ORPHA:525731
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Hereditary Hemorrhagic Telangiectasia
Hematuria, Nephrolithiasis, Cholecystitis ORPHA:774
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Nephrolithiasis OMIM:613848
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Hydronephrosis ORPHA:488613
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Oculoskeletodental Syndrome
Small for gestational age, Renal agenesis, Hypercalcemia, Hypercalciuria, Mucopolysacchariduria, ... OMIM:618440
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... ORPHA:1578
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hypertriglyceridemia, Nephrolithiasis, Polycystic ovaries, Polyphagia OMIM:608594
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
X-Linked Intellectual Disability Due To Gria3 Mutations
Aggressive behavior, Self-mutilation, Micropenis, Slender build, Hydronephrosis ORPHA:364028
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Chronic otitis media,... ORPHA:261494
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca ORPHA:79078
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity OMIM:615989
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Kury-Isidor Syndrome
Recurrent otitis media, Hydronephrosis, Attention deficit hyperactivity disorder OMIM:619762
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Stereotypical hand wringing, Hydronephrosis, Recurrent pneumonia OMIM:619179
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... OMIM:614922
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the urinary system phys... ORPHA:2552
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Nephrolithiasis, Polycystic ov... OMIM:269700
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Suleiman-El-Hattab Syndrome
Failure to thrive, Hydronephrosis OMIM:618950
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... OMIM:308940
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, ... ORPHA:79303
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dysphagia, Nephr... ORPHA:449427
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Failure to thrive, Hypoproteinemia, Hydronephrosis ORPHA:2315
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Small for gestational age, Elevated circulating creati... OMIM:301056
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressiv... ORPHA:353281
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia OMIM:156400
Beckwith-Wiedemann Syndrome
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Large for gestational... ORPHA:116
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia OMIM:236500
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... ORPHA:900
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Decreased serum zinc, Hydronephrosis, Esophagitis ORPHA:541423
Legius Syndrome
Hyperactivity, Nephrolithiasis, Male urethral meatus stenosis, Attention deficit hyperactivity di... ORPHA:137605
Bardet-Biedl Syndrome 6
Hypospadias, Obesity, Renal cyst OMIM:605231
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Dilatation of the renal pelvis, Horseshoe k... ORPHA:314588
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... OMIM:618885
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Renal insufficiency, Oliguria, Dysphagia ORPHA:220393
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli... ORPHA:800
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Renal cyst OMIM:614862
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Lassa Fever
Conjunctivitis, Oliguria, Dysphagia ORPHA:99824
Al-Gazali Syndrome
Failure to thrive, Hydronephrosis, Recurrent pneumonia OMIM:609465
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Cystic Fibrosis
Sinusitis, Bronchiectasis, Nephrolithiasis, Failure to thrive, Decreased body mass index ORPHA:586
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:352540
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Polysyndactyly With Cardiac Malformation
Stillbirth, Hepatic cysts, Renal cyst OMIM:263630
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Polyuria, Recurrent pancreatitis, Dysphagia, Hyp... OMIM:606721
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, E... ORPHA:289176
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... OMIM:612736
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Visceral Myopathy 1
Megacystis, Hydronephrosis, Urinary retention, Dysphagia, Vesicoureteral reflux, Pancreatitis OMIM:155310
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Hydron... OMIM:611209
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, F... ORPHA:90791
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating acyl... ORPHA:26791
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral reflux, Failure to ... OMIM:618460
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis, Obesity OMIM:619269
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Eisenmenger Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Hyperuricemia, Abnorm... ORPHA:97214
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hypoproteinemia, Hydronephrosis, Hypocalcemia OMIM:235255
Schinzel-Giedion Syndrome
Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of the ureter, Nephro... ORPHA:798
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Pneumonia, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia,... ORPHA:544482
Chondrodysplasia Punctata 2, X-Linked Dominant
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythroderma, Failure to thrive, Hydron... OMIM:302960
Koolen-De Vries Syndrome
Ureteral duplication, Overfriendliness, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal... ORPHA:96169
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231625
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney OMIM:163200
Zellweger Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Hydronephrosis ORPHA:912
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Obesity ORPHA:110
Zttk Syndrome
Failure to thrive, Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis, Large for gestational age OMIM:610733
Verheij Syndrome
Small for gestational age, Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Congenital Disorder Of Glycosylation, Type Ih
Neonatal death, Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia OMIM:608104
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Hypercalciuria, Nephrolithiasis, Weight loss ORPHA:652
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Lujo Hemorrhagic Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein ... ORPHA:319213
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis ORPHA:1655
Sepsis In Premature Infants
Small for gestational age, Elevated circulating C-reactive protein concentration, Oliguria, Enter... ORPHA:90051
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Self-injurious behavior, Hydronephrosis ORPHA:568
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Acne, Renal salt wasting, Long penis, Polycystic ovaries, Hypokalemia, Increased urinary 11-deoxy... ORPHA:90795
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating uracil concentration, Oroticaciduria, Low plasma citrulline, Hyperglutaminem... OMIM:311250
Tarp Syndrome
Neonatal death, Failure to thrive, Hydronephrosis, Horseshoe kidney OMIM:311900
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Erysipel... OMIM:235510
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Dysphagia ORPHA:101000
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou... ORPHA:1225
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc... OMIM:615398
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Hyperactivity, Small for gestational age, Eczema, Impulsivity... OMIM:610443
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Zimmermann-Laband Syndrome 1
Long penis, Nephrolithiasis OMIM:135500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Pneumo... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Pneumo... ORPHA:353277
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Failure to thrive, Hydronephrosis, Elevated circulating creatine kinase conce... OMIM:608779
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Attention deficit hyperactivity disorder ORPHA:250989
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gestational age, Hydr... OMIM:614080
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Aggressive behavior, Renal atrophy, Attention deficit hyperactivity disorder, Vesico... OMIM:618659
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia OMIM:618975
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis, Attention deficit hyperactivity disorder OMIM:612513
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Nephrolithiasis, Aspiration pneumonia, Dysphagia, Vesicoureteral reflux, Hy... ORPHA:438213
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Marburg Hemorrhagic Fever
Renal insufficiency, Pericarditis, Maculopapular exanthema, Elevated circulating creatine kinase ... ORPHA:99826
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Attention deficit hyperactivity disorder, Dysphagia, Failure to thr... ORPHA:261349
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Hepatitis, Chronic hepatitis, Recurrent otiti... OMIM:614921
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Vesicoureteral reflux, Crossed... OMIM:300707
Cystic Echinococcosis
Renal cyst, Weight loss, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Hepatic cysts ORPHA:400
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Abnormal repetitive mannerisms, Hydron... OMIM:618653
Brain-Lung-Thyroid Syndrome
Hyperactivity, Hypospadias, Abnormal eating behavior, Recurrent pneumonia, Megacystis, Abnormal d... ORPHA:209905
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kidney, Hydronephrosis OMIM:601186
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... ORPHA:99829
8P Inverted Duplication/Deletion Syndrome
Impulsivity, Abnormality of the urinary system, Attention deficit hyperactivity disorder, Micrope... ORPHA:96092
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Hypospadias, Hydronephrosis OMIM:616449
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Renal cyst,... ORPHA:464311
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Acute Promyelocytic Leukemia
Anorexia, Weight loss, Hematuria, Addictive alcohol use, Stomatitis ORPHA:520
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Erythroderma ORPHA:35173
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
Monosomy 22Q13.3
Hyperactivity, Recurrent skin infections, Hair-pulling, Obesity, Hydronephrosis, Bruxism, Vesicou... ORPHA:48652
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... ORPHA:168558
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abnormal urine potassium concen... ORPHA:275761
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... ORPHA:289548
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Impulsivity, Atopic dermatitis, Bruxism, Dysphagia, Urinary urgency, S... OMIM:619503
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Compulsive behaviors, Vesicoureteral reflux, Hydronep... OMIM:618454
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Aminoaciduria, Failure to thrive, Polyc... OMIM:214110
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Stromme Syndrome
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Osteogenesis Imperfecta
Small for gestational age, Osteoarthritis, Hypercalciuria, Nephrolithiasis, Dysphagia ORPHA:666
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Zygomycosis
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... ORPHA:73263
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Carpenter Syndrome 1
Hydroureter, Hydronephrosis, Obesity OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Hyperactivity, Hypospadias, Small for gestational age, Unilateral renal agenes... ORPHA:464306
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Self-injuriou... ORPHA:847
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Mccune-Albright Syndrome
Hyperphosphaturia, Hepatitis, Renal phosphate wasting, Ovarian cyst, Renal tubular dysfunction, H... ORPHA:562
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Distal Deletion 12Q
Late onset atopic dermatitis, Hyperactivity, Failure to thrive in infancy, Ectopic kidney, Self-m... ORPHA:96149
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... ORPHA:533
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Attention deficit hyperactivity disorder,... OMIM:616580
Aneurysm Of Sinus Of Valsalva
Oliguria, Bacterial endocarditis ORPHA:1054
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Floating-Harbor Syndrome
Restlessness, Hypospadias, Renal agenesis, Small for gestational age, Aggressive behavior, Impuls... ORPHA:2044
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Polyph... ORPHA:96121
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bruxism, Vesicoureteral reflux, Failure to thrive, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Craniofacioskeletal Syndrome
Hypocalcemia, Hypospadias, Hydronephrosis OMIM:300712
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Anorexia, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syn... OMIM:557000
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia,... OMIM:212065
Raine Syndrome
Neonatal death, Hydroureter, Hydronephrosis, Hypophosphatemia OMIM:259775
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Baraitser-Winter Cerebrofrontofacial Syndrome
Failure to thrive, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, D... OMIM:616973
Sickle Cell Anemia
Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
White-Kernohan Syndrome
Hydroureter, Obesity, Horseshoe kidney, Attention deficit hyperactivity disorder, Recurrent otiti... OMIM:619426
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis, Attention deficit hyperactivity disorder OMIM:617557
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Harrod Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hypospadias ORPHA:2115
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Stillbirth, ... OMIM:308050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis ORPHA:163979
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Micropenis, Abnormal repetitive mannerisms, Hydronephrosis OMIM:301040
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Abnor... ORPHA:369837
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... ORPHA:280633
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Aggressive behavior, Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis ORPHA:464738
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Chronic otitis ... ORPHA:2750
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Bronchiectasis, Elevated circulating C-reactive pr... ORPHA:79126
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Sinusitis, Hyperactivity, Recurrent pneumonia, Bronchiectasis... OMIM:251260
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... OMIM:304150
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Perianal abscess, Urachus fistula, Panniculitis, Otitis media... OMIM:612541
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis ORPHA:444072
Otopalatodigital Syndrome Type 2
Hydronephrosis, Failure to thrive, Hypospadias, Ureteral obstruction ORPHA:90652
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Joubert Syndrome 2
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis OMIM:608091
Cardiofaciocutaneous Syndrome 1
Tongue thrusting, Atopic dermatitis, Failure to thrive, Hydronephrosis OMIM:115150
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... ORPHA:90349
Immunodeficiency 96
Recurrent otitis media, Multicystic kidney dysplasia, Eczema OMIM:619774
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... OMIM:267010
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Keratitis, Inflammatory abnormality of the eye, Urethral a... ORPHA:1896
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at... OMIM:208540
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Hypospadias, Ren... OMIM:270400
Liver Disease, Severe Congenital
Chronic gastritis, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia... OMIM:619991
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Tuberous Sclerosis Complex
Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity, Aggressive behavior, ... ORPHA:805
Tarp Syndrome
Failure to thrive, Hydronephrosis, Horseshoe kidney ORPHA:2886
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj... OMIM:620330
Melnick-Needles Syndrome
Ureteral stenosis, Stillbirth, Recurrent otitis media, Failure to thrive, Hydronephrosis OMIM:309350
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss ORPHA:100078
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... OMIM:618733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co... OMIM:615287
Opitz Gbbb Syndrome
Hypospadias, Abnormality of the urinary system, Dysphagia, Vesicoureteral reflux, Recurrent aspir... ORPHA:2745
Joubert Syndrome 1
Hyperactivity, Aggressive behavior, Renal cyst, Nephropathy, Self-mutilation OMIM:213300
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Acne, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine le... ORPHA:90794
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Leprechaunism
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Dec... ORPHA:508
Joubert Syndrome 39
Overweight, Polycystic kidney dysplasia OMIM:619562
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Hydronephrosis ORPHA:1340
Digeorge Syndrome
Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Recurrent pneumonia,... OMIM:188400
Trisomy 18
Cachexia, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Conjugated hyperbilirubinemia, Increased circ... OMIM:619534
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Aggressive behavior, Duplication of renal pelvis, Inappropriate laughter, S... ORPHA:457212
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Renal cyst OMIM:615560
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
X-Linked Hypophosphatemia
Enthesitis, Renal phosphate wasting, Arthritis, Hypocalciuria, Hypophosphatemia ORPHA:89936
Caroli Disease
Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Weight loss, Polycystic kidney dysplasia, A... ORPHA:53035
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Cousin Syndrome
Hydronephrosis OMIM:260660
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Ecz... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Ecz... ORPHA:363958
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Renal cyst, Stillbi... OMIM:229850
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Dubowitz Syndrome
Eczema, Hypospadias, Hydronephrosis, Attention deficit hyperactivity disorder ORPHA:235
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... OMIM:122470
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Failure to thrive, Hydronephrosis OMIM:269150
Joubert Syndrome 14
Renal cyst OMIM:614424
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Hepatic cysts, Abnormal renal artery morphology, ... ORPHA:79328
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Increased circulating thyroglobulin level, Pancreatic cysts, Hepatitis, Renal cyst, Polycystic ki... OMIM:610199
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Apert Syndrome
Chronic otitis media, Acne, Hydronephrosis OMIM:101200
Cutis Laxa, Autosomal Recessive, Type Ic
Recurrent pneumonia, Hydronephrosis, Multiple bladder diverticula OMIM:613177
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Trisomy 8P
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis ORPHA:264450
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Renal cyst,... OMIM:257300
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Polyphagia, Obesity, Renal cyst, Sel... ORPHA:1606
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Attention deficit hyperactivity disorder OMIM:191100
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Ureteropelvic junction obstruction, Large for gestational age, Viol... OMIM:280000
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Renal cyst, Weight loss, Abnormal bladder morphology, Hepatic cyst... ORPHA:284
Robinow Syndrome
Multicystic kidney dysplasia, Small for gestational age, Webbed penis, Micropenis, Hydronephrosis ORPHA:97360
Jacobsen Syndrome
Multicystic kidney dysplasia, Eczema, Hydronephrosis, Attention deficit hyperactivity disorder ORPHA:2308
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Attention de... OMIM:613254
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Gabriele-De Vries Syndrome
Small for gestational age, Oral-pharyngeal dysphagia, Attention deficit hyperactivity disorder, U... ORPHA:506358
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hydronephrosis, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hydronephrosis, Bruxism ORPHA:352665
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Myositis, Pericarditis, Hyperactivity, Horse... ORPHA:3310
Floating-Harbor Syndrome
Hypospadias, Aggressive behavior, Glandular hypospadias, Atopic dermatitis, Nephrocalcinosis, Con... OMIM:136140
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Ecz... ORPHA:2273
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Failure to thrive, Renal cyst OMIM:261515
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Micropeni... ORPHA:83617
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Recurrent skin infections, Hydronephrosis OMIM:601776
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Dysphagia, Vesicou... ORPHA:2363
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Abnormal repetitive mannerisms, Recurrent otitis media, Conju... OMIM:616268
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Large for gestational age, Renal cyst, Nephroblastoma, Bifid ureter, Renal dys... OMIM:617107
Syndromic Diarrhea
Small for gestational age, Gastritis, Renal hypoplasia, Colitis, Abnormality of iron homeostasis,... ORPHA:84064
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Micropenis, Renal hypoplasia, Abdominal obesity OMIM:619321
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Failure to thrive, Chronic sinusitis, Pancre... OMIM:219700
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in infancy, Hypercalce... OMIM:194050
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Joubert Syndrome 21
Hyperechogenic kidneys, Chronic sinusitis, Renal cyst, Dysphagia OMIM:615636
Charge Syndrome
Horseshoe kidney, Attention deficit hyperactivity disorder, Compulsive behaviors, Vesicoureteral ... ORPHA:138
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bronchiectasis, Hypercalciuria, Uveitis, Weight loss, Arthritis, Inflamm... OMIM:181000
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Renal cell carcinoma, Multip... ORPHA:892
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Failure to thrive, Cholangitis, Pancreatic cysts, Stage 5 chronic kidney di... OMIM:266920
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Renal hypoplasia, Renal cyst OMIM:616300
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... ORPHA:2729
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal dea... OMIM:265380
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Impulsivity, Aggressive behavior, Hypophosphaturia, Hypocalciuria, Abnormal temper tantrums, Atte... 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
Hyperactivity, Small for gestational age, Hypospadias, Impulsivity, Self-mutilation, Truncal obes... OMIM:180849
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Renal hypoplasia/aplasia, Abnormal renal morphology, Attention deficit hyperactivity d... ORPHA:363700
Campomelic Dysplasia
Failure to thrive, Hypospadias, Hydronephrosis OMIM:114290
Caroli Syndrome
Abnormality of the kidney, Cholangitis, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Polycy... ORPHA:480520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Aggressive behavior, Renal hypoplasia, Compulsive behav... OMIM:135900
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Failure to thrive, Hypospadias, Hypertriglyceridemia, Recurre... ORPHA:3455
Charge Syndrome
Renal agenesis, Self-mutilation, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Dysphagia, Mic... OMIM:214800
Hydrolethalus Syndrome 1
Stillbirth, Hypospadias, Hydronephrosis OMIM:236680
Kabuki Syndrome 1
Crossed fused renal ectopia, Micropenis, Recurrent otitis media, Ureteropelvic junction obstructi... OMIM:147920
Johanson-Blizzard Syndrome
Hypospadias, Small for gestational age, Urethrovaginal fistula, Increased VLDL cholesterol concen... OMIM:243800
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Dysphagia OMIM:606170
Hajdu-Cheney Syndrome
Failure to thrive, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Attention deficit hyperactivity disorder, Hypospadias, Renal cyst OMIM:616975
Histiocytoid Cardiomyopathy
Failure to thrive, Renal cyst, Polycystic ovaries ORPHA:137675
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Cranioectodermal Dysplasia 2
Renal insufficiency, Cholangitis, Recurrent pneumonia, Renal cyst, Hyperbilirubinemia OMIM:613610
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Aggressive behavior, Renal cyst, Keratoconjunctivitis sicca, Attention deficit hyper... ORPHA:495875
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Dysphagia, Ch... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Enter... ORPHA:2152
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Renal hypoplasia, Decreased body weight, Hydronephrosis OMIM:261540
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Failure to thrive in infancy, Nephrocalcinosis, Hypophosphatemic rickets, Cort... ORPHA:51608
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... OMIM:312870
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Dysphagia, Du... ORPHA:261552
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hypospadias, Hydronephrosis OMIM:304120
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Cyst of the ductus choledochus, Renal dysplasia ORPHA:480880
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Hyperbilirubinemia, Microp... OMIM:210710
Viss Syndrome
Chronic gastritis, Eczema, Atopic dermatitis, Dysphagia, Failure to thrive, Hydronephrosis OMIM:619472
Proteus Syndrome
Enlarged polycystic ovaries, Cachexia, Long penis, Renal cyst ORPHA:744
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620

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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