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:
Agxt1,  Agt1

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 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... OMIM:167030
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease OMIM:618061
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria OMIM:613657
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal... ORPHA:564178
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Nephronophthisis
Renal insufficiency ORPHA:655
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia OMIM:239199
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Phenylketonuria
Aminoaciduria ORPHA:716
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy, Hyperprolinemia ORPHA:419
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Renal insufficiency, Nephritis OMIM:162000
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Hyperoxaluria, Hypercalciur... ORPHA:416
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Glomerulonephritis, Glomerular baseme... OMIM:104200
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Renal insufficiency, Nephrocalcinosis OMIM:259900
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Nephrosialidosis
Renal insufficiency, Nephropathy, Nephrotic syndrome OMIM:256150
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria OMIM:615026
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ... OMIM:220150
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Hyperprolinemia, Type Ii
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia OMIM:239510
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Hyperuricem... OMIM:248250
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Renal insufficiency, Myoglobinuria OMIM:261670
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Renal insufficiency... OMIM:612933
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Retinitis Pigmentosa 59
Renal insufficiency, Micropenis OMIM:613861
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia OMIM:300323
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy... OMIM:300554
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Renal insufficiency, Proteinuria, Decreased HDL cholesterol concentration OMIM:245900
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis OMIM:179800
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Re... OMIM:613388
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Elevated circulating creatinine concentration, ... ORPHA:93126
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
Cystinuria
Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia ORPHA:214
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy ORPHA:2668
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria, Hyperuricemia ORPHA:510
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Nephrocalcinosis OMIM:617370
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:611590
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Organic aciduria OMIM:255100
Dicarboxylic Aminoaciduria
Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Renal insufficiency... ORPHA:2364
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney disease, Nephr... ORPHA:488627
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Amyloidosis, Finnish Type
Renal insufficiency, Nephrotic syndrome OMIM:105120
Apparent Mineralocorticoid Excess
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal urine sodium concen... ORPHA:320
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Nephrocalcinosis, Decreased renal tubular phosphate excretion, Hyperphosphatemia, Inc... OMIM:211900
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hyperphosphaturia, Hypophosphatemic rickets, Increased circulating beta-C-termi... ORPHA:157215
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232200
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis OMIM:615633
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Conjugated hyperbilirubinemia, Nephropathy OMIM:613404
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypocalciuria, Enuresis, Nephropathy, Renal insufficiency, ... ORPHA:1031
Liddle Syndrome
Renal insufficiency, Hypokalemia, Nephropathy ORPHA:526
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232220
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Glycosuria, Renal tu... ORPHA:2088
Microvillus Inclusion Disease
Abnormal renal physiology, Nephrocalcinosis ORPHA:2290
Medullary cystic kidney disease 2
Multiple renal cysts, Hyperuricemia, Enuresis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:603860
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Alkaptonuria
Decreased glomerular filtration rate, Elevated urinary homogentisic acid, Nephrolithiasis OMIM:203500
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Hyperuricemia, Decreased glomerular filtration rat... OMIM:232240
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria ORPHA:79159
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Hypercalcemia OMIM:240150
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Megabladder, Congenital
Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:618719
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria OMIM:614265
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, H... ORPHA:3467
Lcat Deficiency
Hypertriglyceridemia, Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Increased urinary... ORPHA:411543
Familial Parathyroid Adenoma
Hypophosphatemia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Calcium ... ORPHA:99877
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Propionic Acidemia
Organic aciduria, Hyperammonemia ORPHA:35
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Conjugated hyperbilirubinemia, Nephropathy OMIM:208085
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Renal insufficienc... OMIM:256300
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot... ORPHA:839
Nephropathy, Deafness, And Hyperparathyroidism
Renal insufficiency, Nephropathy OMIM:256120
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Proteinuria ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Increased blood urea nitrogen, Acute kidney injury, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Increased blood urea nitrogen, Acute kidney injury, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Increased blood urea nitrogen, Acute kidney injury, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Increased blood urea nitrogen, Acute kidney injury, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Increased blood urea nitrogen, Acute kidney injury, Anuria, Elevated circulating creat... OMIM:612926
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalciuria, Phosphoethanolaminur... OMIM:241500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria OMIM:300661
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:3156
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Hyperalaninemia, Elevated circul... OMIM:619386
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration, Glomerulopathy ORPHA:225
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Renal insufficiency ORPHA:890
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased urinary potass... ORPHA:89938
Malaria
Hyperbilirubinemia, Acute kidney injury, Elevated circulating C-reactive protein concentration ORPHA:673
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Abnormal circulating tyrosine co... ORPHA:2118
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Renal insufficiency, Nephrocalcinosis, Nephrolit... ORPHA:99878
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Methylmalonic acidemia OMIM:251120
Tyrosinemia, Type Iii
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276710
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Tyrosinemia, Type I
Hypertyrosinemia, Enlarged kidney, Hypophosphatemic rickets, Glomerular sclerosis, Hypermethionin... OMIM:276700
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis OMIM:611087
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Abnormal renal resorption, Hypocalcemic tetany, Hypercalciuria, Hypermagnesiuria, H... ORPHA:73224
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Urocanase Deficiency
Urocanic aciduria OMIM:276880
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... ORPHA:85445
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:601678
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Nephrocalcinosis, Renal cyst, 3-Methylglutaconic aciduria ORPHA:445038
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Focal segmental glomerulosclerosis, Renal tubular atrophy, Decreased glomerular filtration rate, ... OMIM:614748
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Increased serum pyruvate OMIM:614741
Transcobalamin Deficiency
Methylmalonic aciduria, Acute kidney injury ORPHA:859
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Chronic kidney disease, Abnor... ORPHA:275555
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Nephrocalcinosis OMIM:156400
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:140350
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis ORPHA:500533
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hypercalciuria, Nephrocalcinosis, Renal cyst OMIM:615398
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Increased level of methylsuccinic acid in urine... ORPHA:26792
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Renal insufficiency, Nephroblastoma, Nephropathy OMIM:194072
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia ORPHA:2123
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:616730
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Renal insufficiency, Nephrolithiasis ORPHA:35710
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypercalcemia, Parathormone-independent increas... OMIM:600740
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalciuria, Renal hamartoma, Hypercalcemia, Renal cyst, Nephroblastoma, Inf... ORPHA:99880
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Ketonuria, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia OMIM:177200
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic aciduria, Methylmalonic acidemia, Dicarboxylic aciduria ORPHA:289504
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia, Hyperechogenic kidneys OMIM:617595
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Parathyroid Carcinoma
Hypophosphatemia, Hypercalciuria, Renal hamartoma, Hypercalcemia, Renal cyst, Nephroblastoma, Inf... ORPHA:143
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Urocanic Aciduria
Abnormal circulating histidine concentration, Urocanic aciduria ORPHA:210128
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hypomagnesemia, Nephrocalcinosis, Hyperphosphatemia ORPHA:428
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:241200
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the ... ORPHA:261222
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Recurrent myoglobinuria, Highly elevated creatine kinase, Chroni... ORPHA:368
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ethylmalonic aciduria OMIM:201470
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Elevated circul... ORPHA:91500
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Hyponatremia, Renal salt wasting, Chronic kidney disease, Hyperechogenic... OMIM:613845
Laurence-Moon Syndrome
Renal insufficiency, Displacement of the urethral meatus, Hypoplasia of penis ORPHA:2377
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Homocystinuria, Methylmalonic aciduria, Methylmalonic acidemia OMIM:309541
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Muckle-Wells Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Renal amyloidosis OMIM:191900
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Harderoporphyria
Increased circulating ferritin concentration, Red urine, Neonatal hyperbilirubinemia, Increased u... OMIM:618892
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Chronic kidney disease OMIM:602152
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polyuria, Hypokalemia, Renal insufficiency, Nephrolithiasis OMIM:617671
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Increased serum pyruva... OMIM:619355
Barth Syndrome
Organic aciduria, 3-Methylglutaconic aciduria OMIM:302060
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the bladder, Enuresis noctur... ORPHA:223
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria OMIM:614707
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Hyperbilirubinemia, Myoglobinuria ORPHA:713
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction, Hyperammonemia ORPHA:289916
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Hereditary Coproporphyria
Dark urine, Hyponatremia, Elevated urinary delta-aminolevulinic acid, Nephropathy, Abnormal circu... ORPHA:79273
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Glutaric Aciduria Iii
Glutaric aciduria OMIM:231690
Cystinosis
Hypophosphatemia, Aminoaciduria, Nephropathy, Hypokalemia, Renal insufficiency, Renal tubular dys... ORPHA:213
Coproporphyria, Hereditary
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid OMIM:121300
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... ORPHA:2970
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276600
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperprolinemia, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Hyperalaninemia OMIM:619003
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Nephrolithiasis OMIM:612286
Hypophosphatemic Rickets
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Hypercalciuria, Hype... ORPHA:437
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Tubulointerstitial nephritis, Methylmalonic aciduria, Methylmalonic acidemia, St... OMIM:251000
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia, Acute kidney injury, Myoglobinuria ORPHA:57
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Elevated creatine kinase after exercise, Hypercalcemia, Chronic kidney disea... ORPHA:284426
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Decreased plasma free carnitine, Increased urine succinate level OMIM:619048
Ebola Hemorrhagic Fever
Renal insufficiency, Proteinuria ORPHA:319218
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Familial Tumoral Calcinosis
Nephrocalcinosis ORPHA:53715
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 chronic kidney... OMIM:617575
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Complex organic aciduria, Renal Fanconi syndrome OMIM:557000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Hypertriglyceridemia, R... ORPHA:369837
3-Methylglutaconic Aciduria, Type V
Glutaric aciduria, Hypospadias, 3-Methylglutaric aciduria OMIM:610198
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Hypomethioninemia, Methylmal... OMIM:277400
Lymphedema-Hypoparathyroidism Syndrome
Renal insufficiency, Nephropathy OMIM:247410
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Elevated circulating glutaric acid concentration, Proxim... OMIM:231680
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Renal insufficiency, Nephropathy ORPHA:1563
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:618348
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:330001
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Methylmalonic aciduria, Aminoaciduria ORPHA:1933
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis OMIM:240300
Multiple Carboxylase Deficiency
Organic aciduria, Hyperammonemia ORPHA:148
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Chronic ki... ORPHA:94059
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased plasma carnitine, Abnormal circulating carnitine concentration, Hyperlysinemia, Renal t... ORPHA:431361
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis OMIM:618005
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia... ORPHA:79259
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement membrane ... OMIM:613159
Babesiosis
Renal insufficiency ORPHA:108
Brachymesomelia-Renal Syndrome
Renal insufficiency OMIM:113470
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Caudal Regression Sequence
Renal agenesis, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney, Renal insuffici... ORPHA:3027
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:91138
Familial Mediterranean Fever
Nephrocalcinosis, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:342
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hyperbilirubi... OMIM:229600
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Vesicoureteral reflux, Nephroblastoma, Nephrocalcinosis, N... OMIM:130650
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Abnormal renal tubule morphology, Multiple renal cysts, Hematuri... ORPHA:534
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, D-2-hydroxyglutaric aciduria OMIM:600721
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Hyperammonemia ORPHA:79312
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:27
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Nephroblastoma, Stage 5 chronic kidney disease, ... OMIM:194080
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Increased blood urea nitrog... ORPHA:49041
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hydronephrosis, Hypospadias OMIM:611209
Rabson-Mendenhall Syndrome
Increased C-peptide level, Nephrocalcinosis, Long penis, Hypokalemia ORPHA:769
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Shwachman-Diamond Syndrome 1
Nephrocalcinosis OMIM:260400
Complement Factor I Deficiency
Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis OMIM:610984
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Renal dysplasia, Nephrocalcinosis OMIM:300990
Calciphylaxis
Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Organic aciduria, Ketonuria, Acute hyperammonemia OMIM:210210
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia ORPHA:79242
Bardet-Biedl Syndrome 9
Renal insufficiency OMIM:615986
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal insufficiency, Renal dysplasia, Hypoplasia of penis ORPHA:85321
Aapoaiv Amyloidosis
Renal amyloidosis, Elevated circulating creatinine concentration, Glomerular sclerosis, Chronic k... ORPHA:439232
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Decreased plasma total carnitine, Enlarged kidney, Dec... OMIM:608836
Encephalopathy, Ethylmalonic
Ethylmalonic aciduria OMIM:602473
Intellectual Disability-Strabismus Syndrome
Hypospadias, Micropenis, Medullary nephrocalcinosis ORPHA:363528
Malonyl-Coa Decarboxylase Deficiency
Methylmalonic aciduria, Elevated urine suberic acid level OMIM:248360
17Q12 Microdeletion Syndrome
Renal insufficiency, Renal hypoplasia/aplasia, Ureterocele, Multicystic kidney dysplasia ORPHA:261265
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Hyperuricemia, Multic... ORPHA:93111
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:86818
Ethylmalonic Encephalopathy
Ethylmalonic aciduria ORPHA:51188
Pseudoxanthoma Elasticum
Nephrocalcinosis ORPHA:758
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, ... ORPHA:42
Pierson Syndrome
Hypoproteinemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis,... OMIM:609049
L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric acidemia OMIM:236792
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hypomethioninemia, Methylmalonic aciduria, Methylmalonic acidemia, Homocystinuria, Hyperhomocysti... OMIM:277410
Amish Lethal Microcephaly
Organic aciduria ORPHA:99742
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Parathormone-independent increased renal tubular c... OMIM:145981
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:2237
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Lacticaciduria, Methylmalonic aciduria, Hyperglycinemia OMIM:245400
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria OMIM:618886
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Elevated... OMIM:137920
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine, Elevated urinary homovanillic acid, Abnormality of urine catecholamine... OMIM:256700
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Hyperhomocystinemia, Methylmalonic acidemia OMIM:614857
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Abnormal renal tubule morphology ORPHA:188
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Mild proteinuria, Increased serum pyruvate, Hyperalaninemia, Hypospadias, Renal insufficiency OMIM:619147
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2715
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease OMIM:613819
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Oliguria, Abnormal tubulointerstitial morpholo... ORPHA:340
Acute Intermittent Porphyria
Dysuria, Dark urine, Hyponatremia, Elevated urinary delta-aminolevulinic acid, Urinary incontinen... ORPHA:79276
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Hy... ORPHA:567546
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Dark urine, Nephrotic syndrome, Renal insufficiency... ORPHA:93552
Yellow Fever
Renal insufficiency, Proteinuria, Nephropathy, Oliguria ORPHA:99829
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Dicarboxylic aciduria, Elevated circulating creatine kinase concentra... OMIM:201475
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Membranoproliferative glomerulonephritis, Renal insufficiency, Chronic kidney disease, Abnormal r... OMIM:137940
Leprechaunism
Long penis, Enlarged kidney, Increased circulating renin level, Hypercalciuria, Hypokalemia, Neph... ORPHA:508
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:242900
Fabry Disease
Lipiduria, Renal insufficiency, Urinary mulberry cells, Proteinuria OMIM:301500
Trisomy 8P
Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hydronephrosis ORPHA:264450
Galactosemia
Renal insufficiency, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:352
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Oliguria, Hypokal... ORPHA:31824
Hand-Foot-Genital Syndrome
Renal insufficiency, Pyelonephritis, Chordee, Ureteropelvic junction obstruction, Vesicoureteral ... OMIM:140000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creatinine conce... OMIM:235400
Floating-Harbor Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Congenital posterior ... ORPHA:2044
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia OMIM:253270
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:36412
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypercalciuria, Microscopic nephrocalcinosis, Hypospadias OMIM:219721
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital posterior urethral valve OMIM:136140
Lamellar Ichthyosis
Renal insufficiency ORPHA:313
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Elevated circulating creatine kinase concentration, Methylmalonic aciduria, Aminoaciduria, Methyl... OMIM:612073
Porphyria Variegata
Neurogenic bladder, Elevated urinary delta-aminolevulinic acid, Hyponatremia, Chronic kidney dise... ORPHA:79473
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary norepinephrine, Elevated urinary dopamine, Elevated urinary epinephrine, Elevate... OMIM:171400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Membranous nephropathy, Elevated circulating C-reactive prote... OMIM:615559
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Elevated creatine kinase after exercise, Oliguria, Dicarboxylic acidu... ORPHA:159
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninuria, Methylmalonic aciduria, Methylmalonic acidemia, Homocystinuria, Cystathioninemi... OMIM:277380
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease OMIM:615630
Glutaric Acidemia I
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria OMIM:231670
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Elevated amniotic fluid alpha-fetoprotein, Chordee, Renal dysplasia, Hypospa... ORPHA:96179
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Hyperglycinemia, Methylmalonic aciduria, Methylmalonic acidemia, Ketonuria OMIM:251110
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated circulating creatinine concen... ORPHA:91547
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Chronic kidney disease, Renal insufficiency ORPHA:469
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria OMIM:611126
Boutonneuse Fever
Renal insufficiency ORPHA:83313
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Elevate... ORPHA:26791
Cranioectodermal Dysplasia 4
Nephropathy, Stage 5 chronic kidney disease OMIM:614378
Exstrophy-Epispadias Complex
Bladder duplication, Horseshoe kidney, Renal hypoplasia, Penoscrotal transposition, Renal duplica... ORPHA:322
Scrub Typhus
Renal insufficiency ORPHA:83317
Sickle Cell Anemia
Renal insufficiency, Hematuria OMIM:603903
Combined D-2- And L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric aciduria OMIM:615182
Legionnaires Disease
Renal insufficiency, Hyponatremia, Hematuria, Proteinuria ORPHA:549
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Renal insufficiency OMIM:208540
Arthrogryposis Multiplex Congenita 5
Medullary nephrocalcinosis OMIM:618947
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyponatremia, Chronic kidney disease, Hypoalbuminemia, Renal insufficiency, H... ORPHA:1667
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Hyperglycinemia, Methylmalonic aciduria, Methylmalonic acidemia, Ketonuria OMIM:251100
Buschke-Ollendorff Syndrome
Renal insufficiency ORPHA:1306
Meningococcal Meningitis
Renal insufficiency, Elevated circulating C-reactive protein concentration ORPHA:33475
Pseudo-Torch Syndrome 1
Renal insufficiency OMIM:251290
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Al Amyloidosis
Albuminuria, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Nephrotic syndrome, ... ORPHA:85443