Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc2a9 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... 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 salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... OMIM:174000
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... OMIM:613092
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, ... OMIM:619468
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Arthriti... ORPHA:411536
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc... OMIM:248190
Hyperuricemia, Hprt-Related
Podagra, Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Xanthinuria, Type Ii
Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc... OMIM:603592
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Hyperuricemia, Arthritis, Uric acid nephrolithiasis, Cr... ORPHA:411543
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Hypomagnesemia, ... OMIM:618314
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti... OMIM:162000
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated cir... OMIM:248250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c... OMIM:617056
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc... OMIM:143880
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Lesch-Nyhan Syndrome
Hyperuricemia, Hematuria, Gout, Renal insufficiency ORPHA:510
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:145981
Medullary cystic kidney disease 2
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... OMIM:603860
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Nephronophthisis 1
Polydipsia, Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, ... OMIM:256100
Cystathioninuria
Cystathioninuria, Nephrolithiasis, Cystathioninemia ORPHA:212
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai... ORPHA:228302
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De... ORPHA:3467
Nephronophthisis 9
Polydipsia, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:600740
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Renal Hypoplasia
Abnormal renal tubule morphology, Polydipsia, Unilateral renal agenesis, Recurrent urinary tract ... ORPHA:93101
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Helix Syndrome
Polydipsia, Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insuffi... OMIM:617671
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia OMIM:145980
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Senior-Loken Syndrome 4
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Polydipsia, Hypocitraturia, Decreased glomerular filtration rat... ORPHA:18
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure... OMIM:613845
Senior-Loken Syndrome 1
Polydipsia, Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointe... OMIM:266900
Hypomagnesemia 6, Renal
Hypomagnesemia, Impaired renal tubular reabsorption of magnesium OMIM:613882
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Obesity, Protein... ORPHA:261222
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia OMIM:222100
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Inflammatory abnormality of the sk... ORPHA:94059
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Nephrolithiasis, Cystinuria ORPHA:163693
Renal Glucosuria
Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria OMIM:233100
Sucrase-Isomaltase Deficiency, Congenital
Nephrolithiasis OMIM:222900
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Nephronophthisis 4
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage... OMIM:606966
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... OMIM:618913
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... OMIM:615862
5-Oxoprolinase Deficiency
Enterocolitis, Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephr... OMIM:260005
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
Lesch-Nyhan Syndrome
Podagra, Hyperuricemia, Nephrolithiasis, Nephrocalcinosis, Dysphagia, Self-injurious behavior, Hy... OMIM:300322
Central Diabetes Insipidus
Polydipsia, Anorexia, Hyponatremia, Failure to thrive, Nocturia, Weight loss ORPHA:178029
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced rat... ORPHA:405
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid... ORPHA:3337
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Xanthinuria, Type I
Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr... OMIM:278300
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine, Hyperuricemia OMIM:232600
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Renal hypopl... OMIM:614376
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Oligomeganephronia
Polydipsia, Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased... ORPHA:2260
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Polydipsia, Decreased glomerular filtration rate, Hyperchloriduria,... OMIM:602522
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis OMIM:216950
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Cystinuria
Hyperuricemia, Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:214
East Syndrome
Renal salt wasting, Polydipsia, Hypokalemia, Enuresis, Increased circulating renin level, Hypomag... ORPHA:199343
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Polydipsia, Hypoka... ORPHA:47159
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Decreased glomerula... ORPHA:85450
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome... ORPHA:329918
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of th... ORPHA:223
Apparent Mineralocorticoid Excess
Polydipsia, Hypokalemia, Decreased circulating renin level, Failure to thrive, Nephrocalcinosis, ... ORPHA:320
Ochoa Syndrome
Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic... ORPHA:2704
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Autosomal Dominant Hypocalcemia
Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Eczematoid dermatitis, Nephrocalcinosis, Hypomagn... ORPHA:428
Cystinosis
Polydipsia, Hypokalemia, Nephropathy, Failure to thrive, Proteinuria, Hypophosphatemia, Motor ste... ORPHA:213
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Failure to thrive, Hypernatremia, Megacystis OMIM:125800
Juvenile Nephropathic Cystinosis
Polydipsia, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration... ORPHA:411634
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Failure to thrive, Hypernatremia, Megacystis OMIM:304800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia OMIM:612286
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Nephronophthisis, Obesity, Tubulointerstitial nephritis OMIM:616629
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting OMIM:612287
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Failure t... OMIM:617595
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia, Nephrolithiasis, Failure to thrive, Cystine crystalluria, Cystinuria OMIM:606407
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Methylmalonic acidemia, Pancreatitis, Hyperammonemia, Failure to thrive, Stage 5... OMIM:251000
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephrolithiasis, Nephropathy ORPHA:2196
Bardet-Biedl Syndrome 10
Obesity, Renal insufficiency, Renal cyst OMIM:615987
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic kidney disease, Renal insufficiency ORPHA:469
Senior-Boichis Syndrome
Polydipsia, Agitation, Tubular luminal dilatation, Chronic kidney disease, Aggressive behavior, I... ORPHA:84081
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar... ORPHA:93126
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Urolithiasis, Gout, H... OMIM:300661
Senior-Loken Syndrome 3
Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome... OMIM:606995
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Nephrolithiasis, Attention deficit hyperactiv... OMIM:619827
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc... OMIM:614227
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H... ORPHA:157
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hyperalaninemia, Tubulointerstitial nephritis OMIM:614582
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i... ORPHA:35710
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Nephrolithiasis, Hypoplasia of penis ORPHA:1816
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Polydipsia, Hypokalemia, Hypocalciuria, Renal potassium wasting, En... OMIM:612780
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Hematuria, Hyperuricemia, Elevated circulating creatine kinase co... OMIM:232800
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Calcinosis, Hypercalciuria, Hyperphosphaturia, Failure to thrive, Hypercalc... OMIM:239200
Gitelman Syndrome
Polydipsia, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Increased ci... OMIM:263800
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Dysphagia, Chronic kidney ... ORPHA:488627
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level OMIM:613677
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Nephronophthisis 11
Polydipsia, Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613550
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Renal pot... ORPHA:358
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hyperc... ORPHA:157215
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Failure to thrive OMIM:263000
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Nephrolithiasis, Hypercalcemia, Hyperphosphatemia OMIM:617994
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, ... ORPHA:93598
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Self-injurious behavior, Nephrolithiasis, Aggressive behavior OMIM:620023
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Nephrolithiasis, Renal tubular acidosis OMIM:267300
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proximal tubulopathy,... OMIM:229600
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Failure to thrive OMIM:612740
Glycogen Storage Disease Ia
Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232200
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Hypokalemia, Glycosuria, Hyperphosphaturia, Renal F... ORPHA:411629
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Protein... OMIM:616026
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Obesity, Renal insufficiency OMIM:615986
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Elevated circulating creatinine concentration, Multiple glomerular cys... OMIM:137920
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur... OMIM:300554
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Hypokalemia OMIM:267200
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Proteinuria, Chronic kidney disease, Elevated cir... ORPHA:275555
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Hepatitis, Nephrotic syndrome, Pustule, Infectious encephali... ORPHA:139402
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Increased urinary porphobilinogen OMIM:176200
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat... ORPHA:449395
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Decreased urinary sulfate, Hypouricemia, Increased urinary taurine, Decreased urinar... OMIM:252150
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Renal cyst, Obesity, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Increased inflammatory re... ORPHA:183
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... OMIM:120330
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ... ORPHA:470
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hypoka... ORPHA:89938
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Cystinosis, Nephropathic
Polydipsia, Generalized aminoaciduria, Hypophosphatemia, Dysphagia, Stage 5 chronic kidney diseas... OMIM:219800
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, ... OMIM:241200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Hyperuricemia,... ORPHA:93111
Flotch Syndrome
Blepharitis, Nephrolithiasis, Inflammatory abnormality of the eye ORPHA:2045
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:601678
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Failure to thrive, Abnormal circulating creatine kinase concentration OMIM:232500
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Small for gestational age, Abnorm... OMIM:616733
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Abnormal blood ion concentration, Psoriasiform dermatitis, Hypocalcemia, Thyroiditis, P... ORPHA:37042
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232220
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Nephrolithiasis, Dysphagia ORPHA:352447
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid OMIM:206400
Bardet-Biedl Syndrome 16
Recurrent otitis media, Renal cyst, Renal agenesis, Obesity, Renal dysplasia, Stage 5 chronic kid... OMIM:615993
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria, Weight loss ORPHA:95626
Acute Adrenal Insufficiency
Renal salt wasting, Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyp... ORPHA:95409
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hematuria, Hyperuricemia ORPHA:35909
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary ... OMIM:252160
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary inosine level, Hypouricemia, Recurrent urinary tract infections, Decreased urina... OMIM:613179
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Failu... OMIM:191800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciuria, Failure to thrive, Calcium nep... OMIM:241530
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfunction, Hy... OMIM:227810
Mpdu1-Cdg
Renal cortical cysts, Elevated circulating creatine kinase concentration, Eczematoid dermatitis ORPHA:79323
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased urine deoxypyridinoline level, Failur... OMIM:239000
Lead Poisoning
Anorexia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Skin ... ORPHA:330015
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas... OMIM:609057
Yao Syndrome
Arthritis, Skin rash, Nephrolithiasis, Pericarditis, Inflammatory abnormality of the skin, Weight... OMIM:617321
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Agitation, Pneumonia, Hematuria, Decreased glomerular filtrati... ORPHA:340
Parathyroid Carcinoma
Polydipsia, Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocal... ORPHA:143
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Failure to thrive, Erythroderma OMIM:609180
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of hippuric acid in urine, Hyperuricemia, Decreased circulatin... OMIM:246450
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Recurrent urinary tract infections, P... OMIM:613095
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Conjunctiviti... ORPHA:33001
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hyperuricemia, Hyperammonemia, Weight loss, Oral aversion, Ketonuria ORPHA:134
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Alport Syndrome 2, Autosomal Recessive
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... OMIM:203780
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia, Hypokalemia ORPHA:251274
Arima Syndrome
Polydipsia, Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney... OMIM:243910
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Megacystis, Fetal pyelectasis, Nephrolithiasis OMIM:619365
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nephrolithiasis, Hypokalemia ORPHA:369929
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocal... ORPHA:99880
Glycogen Storage Disease Ic
Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hyperuricemia, Stomatitis,... OMIM:232240
Hereditary Coproporphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Hyp... ORPHA:79273
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Hyperactivity ORPHA:760
Plasminogen Deficiency, Type I
Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Nephritis, Conjunctivitis OMIM:217090
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,... OMIM:619743
Familial Renal Glucosuria
Glycosuria, Recurrent urinary tract infections, Nephropathy, Renal tubular dysfunction ORPHA:69076
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Abnormality of the kidney, Tubulointerstitial nephritis... ORPHA:459061
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Increased urinary potassium, Hypokalemia ORPHA:231580
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Skin rash, Renal Fanconi... ORPHA:91500
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Agitation, Urinary incontinence, Hyperuricemia, Hypocalcemia, ... ORPHA:94093
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Chronic mucocutaneous candidiasis, Calcium nephrolithiasis, ... ORPHA:36913
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Pancreatitis, Hyperuricemia, Tubulointerstitial fibrosis, ... ORPHA:79259
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Hypercalcemia OMIM:239199
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
X-Linked Intellectual Disability, Schimke Type
Failure to thrive in infancy, Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Deep dermal perivascular inflam... ORPHA:49041
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy, Failure to thrive OMIM:560000
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Elevated urinary coproporphyrin level, Increased urin... OMIM:121300
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Bardet-Biedl Syndrome 19
Renal hypoplasia, Obesity, Hydronephrosis, Renal insufficiency OMIM:615996
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hypernatriuria, Nephrocal... ORPHA:90041
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Colchicine Poisoning
Myocarditis, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagne... ORPHA:31824
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Myh9-Related Disease
Nephritis, Nephropathy, Proteinuria, Renal insufficiency ORPHA:182050
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Molybdenum Cofactor Deficiency, Complementation Group C
Hypertaurinemia, Hypouricemia, Hypocystinemia, Increased urinary taurine, Neonatal death OMIM:615501
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Truncal obesity, Hyperuricemia, Ch... OMIM:203800
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Amelogenesis Imperfecta, Type Ig
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency OMIM:204690
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Nephrolithiasis ORPHA:93160
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive OMIM:203400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Elevated circulating long chain fatty acid concentration, Failure to thrive, Renal c... OMIM:214100
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Elevated circulating dihydroxyphenylacet... OMIM:223360
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration OMIM:620366
Addison Disease
Renal salt wasting, Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyp... ORPHA:85138
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Nephrolithiasis, Obesity, Abdominal obesity OMIM:219090
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Weight loss ORPHA:90060
Familial Isolated Hyperparathyroidism
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf... ORPHA:99879
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Hyperuricemia, Acute pancreatitis, Hyperammonemia, 3-Methylglutaric aciduria, Weight lo... ORPHA:20
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Hypomagnesemia, Renal dysplasia, Hypo... OMIM:618183
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Neonatal death, Renal cyst OMIM:613390
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Weight loss ORPHA:97289
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Glycosuria, Failure to thrive, Nephrocalcinosis, Pr... OMIM:613404
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis OMIM:152700
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive OMIM:610600
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Sebocystomatosis
Nephrolithiasis ORPHA:841
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Congenital Myopathy 19
Hydronephrosis, Dysphagia, Renal atrophy OMIM:618578
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Renal dysplasia, Unilateral renal atrophy, Nephritis, Pyelonephritis OMIM:314300
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Heme Oxygenase 1 Deficiency
Hematuria, Elevated circulating C-reactive protein concentration, Nephritis, Proteinuria, Increas... OMIM:614034
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea nitrogen, Abnormal renal p... OMIM:274150
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypospadias, Galactosuria, Hypergalactosemia, Failure to thrive,... OMIM:222470
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Hyperuricemia OMIM:308950
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency OMIM:611773
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Failure to t... ORPHA:416
Intermediate Uveitis
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Relapsing Fever
Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ... ORPHA:91547
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Renal cortical cysts, Failure to thrive, Hyperechogenic kidneys, Recurrent aspiratio... ORPHA:397715
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Nephrolithiasis, Hypokalemia OMIM:615474
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis... OMIM:610984
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Organic aciduria, Failure to thrive i... ORPHA:6
Marcus-Gunn Syndrome
Nephrolithiasis ORPHA:91412
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
C Syndrome
Renal cortical cysts, Failure to thrive OMIM:211750
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Obesity, Osteoarthritis, Acne, Hypercholesterolemia ORPHA:77296
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst OMIM:174050
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Erdheim-Chester Disease
Polydipsia, Skin rash, Dysuria, Hydronephrosis, Weight loss, Renal insufficiency, Osteomyelitis ORPHA:35687
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyponatremia, Hyperkalemia, Failure to thrive OMIM:264350
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Pro... OMIM:301050
Cocaine Intoxication
Acute kidney injury, Agitation, Hematuria, Colitis, Elevated circulating creatine kinase concentr... ORPHA:90068
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Failure to thrive, Hyperlipidemia, Ketonuria ORPHA:2089
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia ORPHA:147
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis OMIM:211000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Hyperlipidemia, Renal cell carcinoma, Nephrolithiasis, Acne, Increased uri... ORPHA:189427
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ... OMIM:603278
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Hydronephrosis, Motor stereotypy, Attention... OMIM:620141
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... OMIM:235400
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Leukonychia Totalis
Blepharitis, Nephrolithiasis ORPHA:2387
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi... OMIM:241150
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Obesity, Renal cyst OMIM:615982
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Failure to thrive OMIM:614736
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Panhypophysitis
Hyposthenuria, Hyponatremia, Hashimoto thyroiditis, Polydipsia ORPHA:95513
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst ORPHA:1692
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Decreased urinary potassium, Episodic hypokalemia, Obes... ORPHA:79102
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Hyperpho... ORPHA:2088
Mucopolysaccharidosis, Type X
Nephrolithiasis, Dermatan sulfate excretion in urine OMIM:619698
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hemolytic-uremic syndrome, Reduced haptoglobin level, Hyperechogenic kidneys, Proteinuria, Modera... OMIM:301110
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Wilson Disease
Increased urinary copper concentration, Decreased circulating ceruloplasmin concentration, Hyperc... OMIM:277900
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Hypertyrosinemia, Failure to thrive, Neonatal death, Aminoaciduria, Tubulointerstiti... OMIM:124000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Toxic Epidermal Necrolysis
Polydipsia, Pancreatitis, Dysuria, Dysphagia, Weight loss, Conjunctivitis, Renal insufficiency, A... ORPHA:537
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Nephrocalcinosis, ... OMIM:130650
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting OMIM:193100
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Cholan... ORPHA:731
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive, Hydronephrosis, Osteom... OMIM:619218
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Cranioectodermal Dysplasia 1
Hypocalcemia, Stage 1 chronic kidney disease, Chronic kidney disease, Hepatic cysts, Stage 5 chro... OMIM:218330
Alkaptonuria
Decreased glomerular filtration rate, Arthritis, Nephrolithiasis, Dark urine, Elevated urinary ho... OMIM:203500
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hypospadias, Polycystic kidney dy... OMIM:614866
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... OMIM:608836
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Cataract 47
Glycosuria OMIM:612018
Webb-Dattani Syndrome
Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Hypernatremia, Obesity, Hydronephrosis OMIM:615926
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hyperbilirubinemia, Skin rash, Elevated circulating creatinine concentration... ORPHA:542323
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Unilateral renal agenesis, Failure to thrive, Hydronephrosis, Attention def... OMIM:609757
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts ORPHA:2924
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Arthritis, Skin rash, Discoid lupus rash, Malar ras... ORPHA:93552
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Hypocalcemia, Recurrent urinary tract infections, Skin rash, Arthritis, M... ORPHA:36234
Glucose/Galactose Malabsorption
Glycosuria, Failure to thrive OMIM:606824
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis OMIM:613312
Glycogen Storage Disease Ixb
Hyperuricemia OMIM:261750
Dihydropyrimidinase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Hyperactivity, Elevated urinary dihydrouracil ... OMIM:222748
Joubert Syndrome 20
Self-mutilation, Renal cyst, Aggressive behavior OMIM:614970
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... OMIM:223900
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Decreased body weight, Vesicoureteral reflux OMIM:618265
Systemic Capillary Leak Syndrome
Myocarditis, Abnormal renal tubule morphology, Pancreatitis, Pericarditis, Weight loss, Oliguria,... ORPHA:188
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... OMIM:256300
Hyperoxaluria, Primary, Type I
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Elevated urinary gly... OMIM:259900
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Renal cyst, Glycosuria, Hypomagnesemia, Proteinuria, ... ORPHA:699
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Polycystic ovaries, Hyperuricemia OMIM:604367
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Hypophosphatasia, Infantile
Anorexia, Stillbirth, Hypercalciuria, Elevated plasma pyrophosphate, Elevated urine pyrophosphate... OMIM:241500
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Familial Hypoaldosteronism
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thr... ORPHA:427
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... OMIM:615244
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
46,Xy Sex Reversal 4
Recurrent otitis media, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydron... OMIM:154230
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Mody
Abnormality of the kidney, Large for gestational age, Abnormal circulating C-peptide concentratio... ORPHA:552
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive, Renal sodium wa... ORPHA:556037
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Failure to thrive, Vesicoureteral reflux OMIM:613735
Wolfram Syndrome
Polydipsia, Recurrent urinary tract infections, Dysuria, Nephropathy, Abnormality of the urinary ... ORPHA:3463
Multiple Myeloma
Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, Weight loss, ... ORPHA:29073
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep... OMIM:617913
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Skin rash, Proteinuria, Pneumonia, Elevated circulating creatinine concentr... ORPHA:247691
Small Cell Carcinoma Of The Bladder
Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria ORPHA:284400
Simple Cryoglobulinemia
Abnormality of the kidney, Arthritis, Viral hepatitis, Nephrotic syndrome, Microscopic hematuria,... ORPHA:91139
Adamantinoma
Hypercalcemia ORPHA:55881
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Small for gestational age, Ketonuria OMIM:618857
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, N... OMIM:617303
Whipple Disease
Polydipsia, Myocarditis, Anorexia, Myositis, Arthritis, Cachexia, Hyponatremia, Pericarditis, Inf... ORPHA:3452
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive, Renal sodium wa... ORPHA:556030
Late-Onset Isolated Acth Deficiency
Anorexia, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Failure to thrive, Hypercalcemia, W... ORPHA:199299
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias OMIM:614732
Developmental And Epileptic Encephalopathy 111
Nephrolithiasis OMIM:620504
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Nephro... ORPHA:534
Burkitt Lymphoma
Hyperuricemia ORPHA:543
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hyperammonemia, Failure to thrive, Hydronephrosis, Conjugated hyper... OMIM:617093
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Hypoplasia of penis ORPHA:3157
Netherton Syndrome
Ectopic kidney, Skin rash, Eczematoid dermatitis, Hydronephrosis, Erythroderma, Aminoaciduria ORPHA:634
Hypoplasminogenemia
Cervicitis, Nephrolithiasis, Decreased level of plasminogen, Periodontitis ORPHA:722
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Pancreatitis, Hyperuricemia ORPHA:79083
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Neu... ORPHA:79473
Rabson-Mendenhall Syndrome
Polydipsia, Hypokalemia, Long penis, Increased C-peptide level, Nephrocalcinosis ORPHA:769
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Unconjugated hyperbilirubi... ORPHA:90038
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Rheumatoid arthritis, Iridocyclitis, Atrophic gastritis, Hepatitis,... ORPHA:227990
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Glomerular... OMIM:276700
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Tubulointerstitial fibrosis, Rheumatoid arthritis, Recurrent sinusitis, P... OMIM:607944
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Inflammatory abnormality of the ... ORPHA:398063
Primary Sjögren Syndrome
Abnormality of the kidney, Keratoconjunctivitis sicca, Arteritis, Chronic active hepatitis, Myosi... ORPHA:289390
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Blue Diaper Syndrome
Blue urine, Increased body weight, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Igg4-Related Aortitis
Hydronephrosis, Increased inflammatory response, Weight loss, Elevated circulating C-reactive pro... ORPHA:449400
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co... OMIM:619902
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy OMIM:166300
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... ORPHA:79276
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Gout, Hepatic cysts, Stage 5 c... OMIM:618061
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Obesity, Hydronephrosis, Self-injurious behavior, Multicystic kidney d... OMIM:620511
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Agitation, Hypophosphatemic rickets, Increased body weight, Glycosuria... ORPHA:263455
Sarcoidosis
Keratoconjunctivitis sicca, Maculopapular exanthema, Hypercalciuria, Parotitis, Nephrolithiasis, ... ORPHA:797
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Recurrent ski... OMIM:617744
Transketolase Deficiency
Increased level of ribose in urine, Seborrheic dermatitis, Elevated circulating ribitol concentra... ORPHA:488618
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ... ORPHA:2298
Legius Syndrome
Hyperactivity, Nephrolithiasis, Attention deficit hyperactivity disorder, Nephroblastoma, Male ur... ORPHA:137605
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Rheumatoid arthritis, Hashimoto thyroiditis, Iridocyclitis, Atrophi... ORPHA:227982
Cockayne Syndrome
Urinary incontinence, Unilateral renal agenesis, Hyperuricemia, Malar rash, Cachexia, Neurogenic ... ORPHA:191
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentration, Hypokal... OMIM:611489
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Recurrent skin infections... ORPHA:2953
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidn... OMIM:208500</