Gene: Agxt MGI:1329033

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

alanine-glyoxylate aminotransferase

Synonyms:

Agt1, Agxt1

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 Agxt 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.

Human diseases associated with Agxt (2 diseases)
Human diseases predicted to be associated with Agxt (663 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Primary Hyperoxaluria Type 1		Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Hyperoxaluria, Primary, Type I		Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900

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

Disease	Matching phenotypes	Source
Hyperoxaluria, Primary, Type Iii	Calcium oxalate nephrolithiasis, Hyperoxaluria	OMIM:613616
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis	OMIM:620374
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Danubian Endemic Familial Nephropathy	Nephropathy	OMIM:124100
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,...	OMIM:162000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Hyperhomocystinemia, Methylmalonic aciduria, Methylmalonic acidemia	OMIM:613646
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal...	OMIM:616963
Well-Differentiated Liposarcoma	Abnormal renal physiology	ORPHA:99971
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease...	OMIM:618061
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia	OMIM:211000
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Hyperprolinemia, Type Ii	Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid...	OMIM:239510
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Nail-Patella-Like Renal Disease	Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Orthostatic Hypotension 2	Decreased glomerular filtration rate	OMIM:618182
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Complement Factor H Deficiency	Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel...	OMIM:609814
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Nephronophthisis	Renal insufficiency	ORPHA:655
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis	ORPHA:33111
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia, Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts	OMIM:609886
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ...	ORPHA:2843
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal...	OMIM:143880
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E...	OMIM:174000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Indolylacroyl Glycinuria With Impaired Intellectual Development	Hyperglycinuria	OMIM:243050
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	OMIM:242600
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I...	OMIM:179800
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia	ORPHA:419
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Dibasic Amino Aciduria I	Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria	OMIM:222690
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid...	ORPHA:416
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria	OMIM:204750
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hyper...	ORPHA:99879
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Renal Tubular Acidosis Iii	Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect...	OMIM:248190
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency	OMIM:256150
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria	OMIM:620152
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria	OMIM:602722
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
D-2-Hydroxyglutaric Aciduria 2	D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria	OMIM:613657
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c...	OMIM:614196
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Hydroxykynureninuria	Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level	OMIM:236800
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co...	ORPHA:567544
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Dent Disease	Renal phosphate wasting, Renal hypophosphatemia, Chronic kidney disease, Focal segmental glomerul...	ORPHA:1652
Blue Diaper Syndrome	Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia, Blue urine	ORPHA:94086
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Acute kidney injury	ORPHA:2134
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	OMIM:300323
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria	OMIM:601539
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Hyperglycinuria	Calcium oxalate nephrolithiasis, Hyperglycinuria	OMIM:138500
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,...	ORPHA:85450
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia	OMIM:615993
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Coach Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi...	OMIM:619113
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Pauci-Immune Glomerulonephritis	Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati...	ORPHA:93126
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
Cystinuria	Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	ORPHA:214
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph...	OMIM:616026
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency	ORPHA:2668
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu...	OMIM:607364
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia	OMIM:611590
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat...	OMIM:620235
Cryofibrinogenemia, Familial Primary	Hematuria, Transient nephrotic syndrome	OMIM:123540
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia, Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal conce...	OMIM:614227
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, Co...	OMIM:613404
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal u...	ORPHA:320
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab...	OMIM:123550
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Hypomagnesemia 2, Renal	Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia	OMIM:154020
Hypophosphatemic Rickets, Autosomal Recessive, 2	Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia	OMIM:613312
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo...	ORPHA:157215
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis	OMIM:615633
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur...	OMIM:232200
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Microvillus Inclusion Disease	Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Variegate Porphyria	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria	OMIM:176200
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Alkaptonuria	Decreased glomerular filtration rate, Dark urine, Elevated urinary homogentisic acid, Nephrolithi...	OMIM:203500
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hyperammonemia, Organic aciduria, Abnormal circulating leucine concentration	ORPHA:6
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Elevated circulating creatine kinase concentration	OMIM:255100
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp...	ORPHA:2088
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level	OMIM:229100
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Re...	OMIM:603860
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Familial Mediterranean Fever, Autosomal Dominant	Proteinuria, Renal amyloidosis, Renal insufficiency	OMIM:134610
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:611773
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Nephrotic syndrome	ORPHA:69061
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule...	ORPHA:839
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur...	OMIM:232220
Familial Renal Glucosuria	Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections	ORPHA:69076
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I...	ORPHA:3467
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ...	ORPHA:470
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy...	ORPHA:656
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki...	ORPHA:89938
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal...	OMIM:211900
Malaria	Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia	ORPHA:673
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine	ORPHA:54057
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased total bilirubin	ORPHA:890
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Propionic Acidemia	Hyperammonemia, Organic aciduria	ORPHA:35
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithias...	ORPHA:411543
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi...	OMIM:615862
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Hy...	OMIM:232240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Renal insufficiency, Congenital nephrotic syndrome, Hyperlipidemia, Proteinuria,...	OMIM:256300
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren...	OMIM:208085
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hyperamylasemia, Hyperglycinemia, Renal insufficiency, Elevated circulating creati...	OMIM:619386
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Medullary Sponge Kidney	Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis	ORPHA:1309
Hypophosphatasia, Infantile	Nephrocalcinosis, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Hypercalciuria, Elevated...	OMIM:241500
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:28
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Anti-Glomerular Basement Membrane Disease	Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency	ORPHA:375
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Organic aciduria	OMIM:617184
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Hartnup Disorder	Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria	OMIM:234500
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis	OMIM:617105
Imerslund-Grasbeck Syndrome 2	Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections	OMIM:618882
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul...	ORPHA:340
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis	OMIM:611087
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis	ORPHA:500533
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal...	ORPHA:73224
3-Methylglutaconic Aciduria Type 7	Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria	ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Hawkinsinuria	Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacet...	ORPHA:2118
Lesch-Nyhan Syndrome	Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Nephrolithiasis	OMIM:300322
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Liddle Syndrome 1	Hypokalemia, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased...	OMIM:601678
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
Tyrosinemia, Type Iii	4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia	OMIM:276710
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co...	ORPHA:3337
Metaphyseal Chondrodysplasia, Jansen Type	Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hypercalcemia	OMIM:156400
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Hypophosphatemic rickets	OMIM:614473
Retinitis Pigmentosa 59	Micropenis, Renal insufficiency	OMIM:613861
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:2123
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:166300
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:79159
Myh9-Related Disease	Nephropathy, Nephritis, Renal insufficiency, Proteinuria	ORPHA:182050
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Organic aciduria	OMIM:614741
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St...	OMIM:308940
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Hypospadias, Renal insufficiency, Nephroblastoma	OMIM:194072
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos...	OMIM:616730
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Renal artery stenosis, Hypocalcemia, Hypokalem...	OMIM:617913
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria	OMIM:615398
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri...	OMIM:276700
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Preeclampsia	Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal...	ORPHA:275555
Idiopathic Hypercalciuria	Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria	ORPHA:2197
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated...	ORPHA:368
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro...	OMIM:600740
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Combined Malonic And Methylmalonic Aciduria	Methylmalonic aciduria	OMIM:614265
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia	ORPHA:35710
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal hypoplasia, Renal insufficiency	OMIM:615996
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm...	ORPHA:261222
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria, Elevated circulating...	ORPHA:324525
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria	ORPHA:428
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating creatinine concentr...	ORPHA:91500
Tyrosinemia, Type Ii	4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia	OMIM:276600
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
Jeune Syndrome	Nephropathy, Nephronophthisis, Renal insufficiency	ORPHA:474
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased...	OMIM:241200
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Urocanase Deficiency	Urocanic aciduria	OMIM:276880
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus	ORPHA:2377
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia	OMIM:617661
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Aminoaciduria, Genera...	OMIM:219800
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia...	ORPHA:79101
Alg1-Cdg	Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney	ORPHA:79327
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Aminoaciduria, Proximal tubulopath...	ORPHA:411634
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Elevated urine N-acetylaspartic acid level, In...	OMIM:618384
Methylmalonyl-Coa Epimerase Deficiency	Hyperhomocystinemia, Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine...	OMIM:251120
Muckle-Wells Syndrome	Elevated circulating C-reactive protein concentration, Renal amyloidosis, Renal insufficiency	OMIM:191900
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Urocanic Aciduria	Abnormal circulating histidine concentration, Urocanic aciduria	ORPHA:210128
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis	OMIM:616084
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Renal insufficiency	ORPHA:281090
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Proteinuria, Hypon...	OMIM:613845
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormal circulat...	ORPHA:35706
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction	ORPHA:289916
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Reni Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:617575
Cystinosis	Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Hypokalemia, Proteinu...	ORPHA:213
Hawkinsinuria	Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia	OMIM:140350
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Ventriculomegaly With Cystic Kidney Disease	Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid...	OMIM:219730
Helix Syndrome	Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria	OMIM:617671
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Renal insufficiency	ORPHA:713
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria	OMIM:615026
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva...	ORPHA:284426
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
D-Lactic Aciduria With Gout	Elevated urine D-lactate level, Lacticaciduria	OMIM:245450
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Hereditary Coproporphyria	Nephropathy, Dark urine, Abnormal circulating porphyrin concentration, Increased urinary porphobi...	ORPHA:79273
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency	OMIM:247410
Familial Tumoral Calcinosis	Nephrocalcinosis	ORPHA:53715
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Hypertriglycerid...	ORPHA:369837
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri...	OMIM:254900
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease	OMIM:613819
Brown-Vialetto-Van Laere Syndrome 2	Organic aciduria	OMIM:614707
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Renal cyst, Tu...	OMIM:263200
Complement Factor I Deficiency	Pyelonephritis, Renal insufficiency, Glomerulonephritis, Recurrent urinary tract infections	OMIM:610984
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nephrolithiasis,...	ORPHA:79259
Intellectual Disability-Strabismus Syndrome	Micropenis, Medullary nephrocalcinosis, Hypospadias	ORPHA:363528
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hype...	ORPHA:90041
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylg...	OMIM:210200
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Nephrocalcinosis	OMIM:618005
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas...	ORPHA:228308
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency	OMIM:602152
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:94059
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, In...	OMIM:617595
Babesiosis	Renal insufficiency	ORPHA:108
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d...	ORPHA:3027
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease	OMIM:613390
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis	OMIM:240300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Hyperammonemia	ORPHA:79312
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli...	ORPHA:439232
Cryoglobulinemic Vasculitis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:91138
Oculocerebrorenal Syndrome Of Lowe	Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insuf...	ORPHA:534
2-Methylbutyryl-Coa Dehydrogenase Deficiency	2-ethylhydracylic aciduria	OMIM:610006
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, E...	OMIM:130650
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Elevated circulating C-reactive pr...	OMIM:619644
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:27
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto...	OMIM:246450
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t...	ORPHA:84081
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia	OMIM:614922
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Familial Mediterranean Fever	Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria	ORPHA:342
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ...	ORPHA:49041
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c...	ORPHA:431361
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy...	ORPHA:567546
Pseudoxanthoma Elasticum	Nephrocalcinosis	ORPHA:758
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Senior-Loken Syndrome 8	Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn...	OMIM:616307
Systemic Capillary Leak Syndrome	Abnormal renal tubule morphology, Renal insufficiency, Oliguria	ORPHA:188
Wild Type Attr Amyloidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria	ORPHA:330001
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Holocarboxylase Synthetase Deficiency	Hyperammonemia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Org...	OMIM:253270
Shwachman-Diamond Syndrome 1	Nephrocalcinosis	OMIM:260400
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia	ORPHA:280062
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Rabson-Mendenhall Syndrome	Hypokalemia, Nephrocalcinosis, Long penis, Increased C-peptide level	ORPHA:769
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury, Increased circulating ferritin concentration	OMIM:618886
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Hype...	OMIM:210210
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Renal hypoplasia, Renal insufficiency, Renal dysplasia	ORPHA:85321
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta...	OMIM:277400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Vesicoureteral reflux, Hydronephros...	ORPHA:2237
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein...	ORPHA:93552
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:86818
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu...	ORPHA:91547
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hyperalaninemia, Renal insufficiency, Mild proteinuria, Increased serum pyruvate	OMIM:619147
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:157
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Organic aciduria	ORPHA:79242
Fabry Disease	Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency	OMIM:301500
Acute Intermittent Porphyria	Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem...	ORPHA:79276
Hypocomplementemic Urticarial Vasculitis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:36412
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr...	OMIM:137920
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Porphyria Variegata	Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent...	ORPHA:79473
Lamellar Ichthyosis	Renal insufficiency	ORPHA:313
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Colchicine Poisoning	Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp...	ORPHA:31824
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Elevated urinary vanillylman...	OMIM:256700
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Renal insufficiency, Chordee, Hypospadias, Renal dyspl...	ORPHA:96179
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease	OMIM:618821
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre...	OMIM:235400
Boutonneuse Fever	Renal insufficiency	ORPHA:83313
Glutaric Aciduria Iii	Glutaric aciduria	OMIM:231690
Leprechaunism	Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged kidney, Increased circulating...	ORPHA:508
Fructose Intolerance, Hereditary	Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia,...	OMIM:229600
Trisomy 8P	Hydronephrosis, Nephrocalcinosis, Fetal pyelectasis, Micropenis	ORPHA:264450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis	OMIM:615630
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias	OMIM:268310
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Membranous nephropathy, Eleva...	OMIM:615559
Scrub Typhus	Renal insufficiency	ORPHA:83317
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla...	ORPHA:449395
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D...	OMIM:605911
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Organic aciduria, Abnormal circulating acylcarnitine concentration	OMIM:620191
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria	OMIM:618250
Wolcott-Rallison Syndrome	Chronic kidney disease, Hypoalbuminemia, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,...	ORPHA:1667
Legionnaires Disease	Hematuria, Proteinuria, Hyponatremia, Renal insufficiency	ORPHA:549
Floating-Harbor Syndrome	Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,...	ORPHA:2044
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperammonemia, Tubuloin...	OMIM:251000
Al Amyloidosis	Hypoalbuminemia, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Increased...	ORPHA:85443
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr...	OMIM:255120
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hypoalbuminemia, Recurrent urinary tract infections, Hype...	OMIM:619487
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia	ORPHA:469
Simple Cryoglobulinemia	Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Abnormality of the kidne...	ORPHA:91139
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Renal insufficiency	ORPHA:33475
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ...	ORPHA:322
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Nephrotic syndrome, Renal insufficiency	ORPHA:139402
Generalized Pustular Psoriasis	Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive...	ORPHA:247353
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:242900
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis	OMIM:619603
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithiasis, Hyp...	OMIM:300661
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary dopamine level, Elevated urinary epinephrine level, Elevated urinary norepinephr...	OMIM:171400
Liver Failure, Infantile, Transient	Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti...	OMIM:613070
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Oliguria, Renal insufficiency	ORPHA:727
Williams Syndrome	Renal hypoplasia, Nephrocalcinosis, Abnormal circulating lipid concentration, Recurrent urinary t...	ORPHA:904
Bardet-Biedl Syndrome 17	Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria	OMIM:615994
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Renal insufficiency	ORPHA:220393
Cholera	Acute kidney injury, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine output, Abnormal bl...	ORPHA:173
Pyomyositis	Renal insufficiency	ORPHA:764
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria...	ORPHA:447
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