Gene: Grhpr MGI:1923488

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

glyoxylate reductase/hydroxypyruvate reductase

Synonyms:

1110059D05Rik, 6430629L09Rik

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 Grhpr 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 Grhpr (2 diseases)
Human diseases predicted to be associated with Grhpr (733 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hyperoxaluria, Primary, Type Ii		Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal...	OMIM:260000
Primary Hyperoxaluria Type 2		Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i...	ORPHA:93599

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

Disease	Matching phenotypes	Source
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Methylmalonic aciduria	OMIM:613646
Hyperoxaluria, Primary, Type Iii	Hyperoxaluria, Calcium oxalate nephrolithiasis	OMIM:613616
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome...	OMIM:310468
Primary Hyperoxaluria Type 3	Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H...	ORPHA:93600
Hyperoxaluria, Primary, Type Ii	Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal...	OMIM:260000
Primary Hyperoxaluria Type 2	Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i...	ORPHA:93599
Nephrolithiasis, Calcium Oxalate	Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Cystinuria	Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper...	OMIM:220100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy...	OMIM:308990
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f...	OMIM:613092
Lipoprotein Glomerulopathy	Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dys...	ORPHA:93598
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Nephrolithiasis	OMIM:614723
Congenital Primary Megaureter	Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin...	ORPHA:617
Hyperuricemic Nephropathy, Familial Juvenile, 3	Renal insufficiency, Nephropathy	OMIM:614227
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine...	OMIM:614196
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Dicarboxylic Aminoaciduria	Aminoaciduria, Nephrolithiasis, Aspartic aciduria	OMIM:222730
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
Hypercalcemia, Infantile, 2	Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci...	OMIM:616963
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins...	OMIM:601331
Congenital Megacalycosis	Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol...	ORPHA:93109
Glomerulopathy With Fibronectin Deposits 1	Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat...	OMIM:137950
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy	OMIM:602114
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits	ORPHA:69063
5-Oxoprolinase Deficiency	Prolinuria, Enterocolitis, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephr...	OMIM:260005
Adenine Phosphoribosyltransferase Deficiency	Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch...	ORPHA:976
Dent Disease 2	Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop...	OMIM:300555
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Urolithiasis, Uric Acid, Autosomal Dominant	Uric acid urolithiasis independent of gout	OMIM:191700
Sucrase-Isomaltase Deficiency, Congenital	Nephrolithiasis	OMIM:222900
Blue Diaper Syndrome	Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis	OMIM:211000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor...	OMIM:611555
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid ne...	ORPHA:411536
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc...	OMIM:161900
Interstitial Cystitis	Urinary bladder inflammation, Urinary urgency, Pollakisuria, Functional abnormality of the bladde...	ORPHA:37202
Nephronophthisis 1	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:256100
Iminoglycinuria	Prolinuria, Hydroxyprolinuria, Hyperglycinuria	OMIM:242600
Iminoglycinuria	Prolinuria, Hydroxyprolinuria, Hyperglycinuria	ORPHA:42062
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Nephronophthisis 20	Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:617271
Nephrotic Syndrome, Type 19	Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,...	OMIM:618178
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ...	OMIM:220150
Urofacial Syndrome 2	Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure...	OMIM:615112
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency	ORPHA:2613
D-2-Hydroxyglutaric Aciduria 2	D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia	OMIM:613657
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De...	OMIM:174000
Nephronophthisis 3	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:604387
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Gout, Hyperuricemi...	ORPHA:79233
Phenylketonuria	Aminoaciduria	ORPHA:716
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis	ORPHA:33111
C3 Glomerulopathy 3	Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis	OMIM:614809
Glomerulopathy With Fibronectin Deposits 2	Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ...	OMIM:601894
Fanconi Renotubular Syndrome 5	Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa...	OMIM:618913
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k...	OMIM:603965
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal tubular acidosis, Nephrolithiasis	OMIM:267300
Focal Segmental Glomerulosclerosis 7	Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616002
Primary Membranoproliferative Glomerulonephritis	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic...	ORPHA:54370
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:606966
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur...	OMIM:615008
Azoospermia, Obstructive, With Nephrolithiasis	Nephrolithiasis	OMIM:301060
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch...	OMIM:618177
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:616032
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:301028
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability	Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ...	ORPHA:564178
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst, Abnormality of the kidney	OMIM:615987
Nephronophthisis 7	Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:611498
Primary Hyperoxaluria	Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch...	ORPHA:416
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb...	OMIM:614131
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:614199
Complement Factor H Deficiency	Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel...	OMIM:609814
Idiopathic Hypercalciuria	Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis	ORPHA:2197
Hyperuricemia, Hprt-Related	Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria, Renal insufficiency	OMIM:300323
Idiopathic Non-Lupus Full-House Nephropathy	Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre...	ORPHA:567544
Dent Disease	Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph...	ORPHA:1652
Xanthinuria, Type Ii	Hypouricemia, Renal insufficiency, Nephrolithiasis	OMIM:603592
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency	OMIM:607832
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese...	OMIM:601198
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:618176
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:613944
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613779
Hyperoxaluria, Primary, Type I	Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Renal insufficiency	OMIM:259900
Xanthinuria, Type I	Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria	OMIM:278300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency	OMIM:162000
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Hereditary Xanthinuria	Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa...	ORPHA:3467
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis	OMIM:239199
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163690
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Renal Tubular Acidosis Iii	Hypokalemia, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis	OMIM:267200
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia	OMIM:609886
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur...	OMIM:104200
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Hematuria, Nephrolithiasis, Nephropathy	ORPHA:2196
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hydronephrosis, Urinary bladder inflammation, Aplasia of the bladder, Renal dysplasia, Hematuria,...	ORPHA:79403
Hyperparathyroidism 4	Hypercalcemia, Nephrolithiasis	OMIM:617343
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu...	OMIM:616818
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria	OMIM:143880
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria	OMIM:612286
Dibasic Amino Aciduria I	Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria	OMIM:222690
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Hyperalaninemia	OMIM:618250
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con...	ORPHA:449395
Camos Syndrome	Renal insufficiency, Nephrotic syndrome	ORPHA:83472
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi...	OMIM:617609
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis	OMIM:612287
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia	ORPHA:214
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease	OMIM:617610
Dent Disease 1	Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr...	OMIM:300009
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypospadias, Hypoplasia of penis, Nephrolithiasis	ORPHA:1816
Nephronophthisis	Renal insufficiency	ORPHA:655
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros...	OMIM:256370
Nail Disorder, Nonsyndromic Congenital, 3	Nephrolithiasis	OMIM:151600
Senior-Loken Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:609254
Bardet-Biedl Syndrome 16	Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Renal insufficiency, Abnorma...	OMIM:615993
Familial Isolated Hyperparathyroidism	Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy...	ORPHA:99879
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp...	OMIM:248190
Bardet-Biedl Syndrome 18	Renal insufficiency	OMIM:615995
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Hypocalcemia	ORPHA:163693
Hereditary Renal Hypouricemia	Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D...	ORPHA:94088
Paget Disease Of Bone 6	Osteoarthritis, Nephrocalcinosis	OMIM:616833
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis	OMIM:614473
Hyperprolinemia, Type Ii	Prolinuria, Hyperprolinemia, Hydroxyprolinuria, Hyperglycinuria	OMIM:239510
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis	OMIM:602722
Hypomagnesemia 3, Renal	Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo...	OMIM:248250
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary urgency, Urinary hesi...	ORPHA:556
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum...	OMIM:615573
Alport Syndrome	Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros...	ORPHA:63
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid nephrolithiasis, ...	ORPHA:411543
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei...	OMIM:613237
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine...	ORPHA:84090
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Recurrent pancreatitis, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney...	OMIM:145001
Nephronophthisis 12	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613820
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub...	OMIM:602522
Ulna Metaphyseal Dysplasia Syndrome	Nephrolithiasis	ORPHA:1837
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di...	OMIM:600995
Congenital Anomalies Of Kidney And Urinary Tract 2	Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena...	OMIM:143400
Hypophosphatemic Rickets, X-Linked Recessive	Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin...	OMIM:300554
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Flotch Syndrome	Blepharitis, Inflammatory abnormality of the eye, Nephrolithiasis	ORPHA:2045
Nephrotic Syndrome, Type 21	Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro...	OMIM:618594
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:161950
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria	OMIM:616026
Blue Diaper Syndrome	Hypercalcemia, Blue urine, Hyperphosphatemia, Nephrocalcinosis	ORPHA:94086
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Retinitis Pigmentosa 59	Micropenis, Renal insufficiency	OMIM:613861
Autosomal Dominant Polycystic Kidney Disease	Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta...	ORPHA:730
Peroxisome Biogenesis Disorder 10B	Neurogenic bladder, Nephrocalcinosis	OMIM:617370
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Nephrolithiasis, Vesicoureteral reflux	OMIM:617219
Nephrosialidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome	OMIM:256150
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria	OMIM:601539
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithiasis, Renal insufficiency	OMIM:300661
Riboflavin Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration	OMIM:615026
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis	OMIM:619365
Nephrotic Syndrome, Type 10	Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon...	OMIM:615861
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ...	OMIM:616892
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome	OMIM:249660
Renal Hypoplasia	Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm...	ORPHA:93101
Hyperprolinemia Type 1	Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy	ORPHA:419
Nephronophthisis-Like Nephropathy 2	Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Po...	OMIM:619468
Coach Syndrome 3	Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth...	OMIM:619113
Hinman Syndrome	Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff...	ORPHA:84085
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop...	ORPHA:157215
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,...	OMIM:254900
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Hereditary Amyloidosis With Primary Renal Involvement	Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep...	ORPHA:85450
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy	ORPHA:1909
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Pancreatitis, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Hypercalciuria	OMIM:145980
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Pancreatitis, Parathormone-independent increased renal tubular calcium reabsorptio...	OMIM:145981
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of renal corticomed...	OMIM:263200
Renal Tubular Acidosis, Distal, 1	Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis	OMIM:179800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Isothenuria, Distal renal tubular acidosis, Nephrocalcinosis	OMIM:611590
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen...	OMIM:614817
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum...	OMIM:610725
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Proteinuria	ORPHA:2134
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:35710
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Organic aciduria	OMIM:617184
Papillorenal Syndrome	Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron...	OMIM:120330
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D...	OMIM:615244
Acrorenal Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology	ORPHA:971
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin...	OMIM:300971
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria	OMIM:204750
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa...	OMIM:619201
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro...	OMIM:146255
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency	OMIM:204690
Sebocystomatosis	Nephrolithiasis	ORPHA:841
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Medullary nephrocalcinosis, Hypophosphatemic rickets	OMIM:613312
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i...	OMIM:600740
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Organic aciduria	OMIM:255100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Conjugated hyperbilirubinemia, Ne...	OMIM:613404
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis	OMIM:615633
Glycogen Storage Disease Xi	Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena...	OMIM:612933
Glycogen Storage Disease X	Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency	OMIM:261670
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia	OMIM:245900
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem...	OMIM:603278
Yao Syndrome	Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Nephro...	OMIM:617321
Nephrotic Syndrome, Type 22	Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag...	OMIM:619155
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Gout, Hyperuricemia	ORPHA:510
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentra...	ORPHA:320
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Myoglobinuria, Autosomal Dominant	Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria	OMIM:160010
Fanconi Renotubular Syndrome 2	Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re...	OMIM:613388
Tubulointerstitial Nephritis With Uveitis	Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve...	OMIM:607665
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Nephronophthisis 18	Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis...	OMIM:615862
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra...	ORPHA:228302
Bardet-Biedl Syndrome 19	Renal insufficiency	OMIM:615996
Hypotonia-Cystinuria Syndrome	Cystinuria, Hypocalcemia, Nephrolithiasis	OMIM:606407
C3 Glomerulopathy	Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid...	ORPHA:329918
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency	ORPHA:2668
Familial Mediterranean Fever, Autosomal Dominant	Peritonitis, Renal insufficiency, Proteinuria, Erysipelas, Renal amyloidosis	OMIM:134610
Nephrotic Syndrome, Type 16	Hematuria, Proteinuria, Nephrotic syndrome	OMIM:617783
Fanconi-Bickel Syndrome	Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Hypophosp...	ORPHA:2088
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub...	OMIM:211900
Renal Dysplasia	Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin...	ORPHA:93108
Amyloidosis, Finnish Type	Renal insufficiency, Nephrotic syndrome	OMIM:105120
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron...	OMIM:203780
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Conjugated hyperbilirubinemia, Ne...	OMIM:208085
Wilson Disease	Hyperphosphaturia, High nonceruloplasmin-bound serum copper, Renal tubular dysfunction, Aminoacid...	OMIM:277900
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur...	OMIM:134600
Enamel-Renal Syndrome	Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa...	ORPHA:1031
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne...	OMIM:613496
Senior-Loken Syndrome 1	Nephronophthisis, Polyuria, Stage 5 chronic kidney disease	OMIM:266900
Medullary cystic kidney disease 2	Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ...	OMIM:603860
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616220
Distal Renal Tubular Acidosis	Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Proximal tubulopathy, Decreased ...	ORPHA:18
Microvillus Inclusion Disease	Abnormal renal physiology, Nephrocalcinosis	ORPHA:2290
Lcat Deficiency	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki...	ORPHA:650
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena...	ORPHA:2364
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H...	ORPHA:47159
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ...	ORPHA:656
Stiff Skin Syndrome	Abnormal circulating lipid concentration, Nephrolithiasis	ORPHA:2833
Helix Syndrome	Hypokalemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insufficiency	OMIM:617671
Posterior Urethral Valve	Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat...	ORPHA:93110
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Elevated circulating creatine kinase concentration, Nephrolithiasis	ORPHA:352447
Marfanoid Habitus With Microcephaly And Glomerulonephritis	Glomerulonephritis, Renal insufficiency	OMIM:248760
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ...	ORPHA:567548
Hypophosphatasia, Infantile	Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Elevated plasma pyrophosphate, Pho...	OMIM:241500
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Plasminogen Deficiency, Type I	Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis	OMIM:217090
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis	OMIM:232500
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hyperammonemia	ORPHA:6
Renal Cysts And Diabetes Syndrome	Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol...	OMIM:137920
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular...	OMIM:256300
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis	OMIM:611087
Liddle Syndrome	Hypokalemia, Renal insufficiency, Nephropathy	ORPHA:526
Familial Hypocalciuric Hypercalcemia	Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Parathormone-independent increased renal t...	ORPHA:405
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria, Renal insufficiency	ORPHA:225
Combined Oxidative Phosphorylation Deficiency 52	Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Pancreatitis...	OMIM:619386
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Renal insufficiency, Nephropathy	OMIM:166300
Joubert Syndrome 4	Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency	OMIM:609583
Leukonychia Totalis	Blepharitis, Nephrolithiasis	ORPHA:2387
Nephronophthisis 16	Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney	OMIM:615382
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ...	OMIM:191800
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease, Gout	OMIM:618061
Isobutyryl-Coa Dehydrogenase Deficiency	Decreased plasma carnitine, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration	ORPHA:79159
Hypervitaminosis A, Susceptibility To	Hypercalcemia, Renal insufficiency	OMIM:240150
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease	ORPHA:3156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Gout, Renal cyst, Hyperuricemia, Nephropathy, Chronic kidney ...	OMIM:617056
Thrombotic Thrombocytopenic Purpura	Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency	ORPHA:54057
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Gout, N...	OMIM:232200
Ochoa Syndrome	Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ...	ORPHA:2704
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis	ORPHA:500533
Anti-Glomerular Basement Membrane Disease	Hematuria, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency	ORPHA:375
Acrorenal Syndrome, Autosomal Recessive	Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency	OMIM:201310
Senior-Loken Syndrome 4	Nephronophthisis, Polyuria, Stage 5 chronic kidney disease	OMIM:606996
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased total bilirubin	ORPHA:890
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Oculocerebrodental Syndrome	Hypercalcemia, Hypocalcemia, Nephrocalcinosis	ORPHA:557003
Malaria	Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Gout, N...	OMIM:232220
Tyrosinemia, Type I	Renal Fanconi syndrome, Hypophosphatemic rickets, Nephrocalcinosis, Hypertyrosinemia, Glomerular ...	OMIM:276700
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:268200
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Nephrocalcinosis	ORPHA:445038
Infantile Bartter Syndrome With Sensorineural Deafness	Hyponatremia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease,...	ORPHA:89938
Combined Malonic And Methylmalonic Aciduria	Methylmalonic aciduria	OMIM:614265
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Chronic mucocutaneous candidiasis, Hypocalcemia, Calc...	ORPHA:36913
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:136680
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Hematuria, Renal cyst, Nephropathy	OMIM:611773
Acquired Ichthyosis	Recurrent skin infections, Renal insufficiency	ORPHA:454
Tyrosinemia, Type Iii	4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria	OMIM:276710
Propionic Acidemia	Organic aciduria, Hyperammonemia	ORPHA:35
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypercalciuria	OMIM:156400
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthinuria, Absent urinary urothione, Increased urinary thiosulfate, Decreased urinary urate, In...	OMIM:252150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Hyperlipidemia, Nephrocalcinosis, Tubulointerstitial fibrosi...	ORPHA:79259
Bartter Syndrome, Type 1, Antenatal	Hypercalcemia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prosta...	OMIM:601678
Tubular Renal Disease-Cardiomyopathy Syndrome	Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypomag...	ORPHA:73224
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypercalciuria, Ureteral stenosis, Renal cyst, Nephrocalcinosis	OMIM:615398
Renal Coloboma Syndrome	Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins...	ORPHA:1475
Cryoglobulinemia, Familial Mixed	Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn...	OMIM:123550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia	OMIM:617661
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Calcium nephrolithiasis, Hy...	OMIM:241530
Marcus-Gunn Syndrome	Nephrolithiasis	ORPHA:91412
Arima Syndrome	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:243910
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ...	ORPHA:3337
Nephrotic Syndrome, Type 11	Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep...	OMIM:616730
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Pancreatitis, Renal hamartoma, Rena...	ORPHA:99880
Lesch-Nyhan Syndrome	Hyperuricemia, Nephrolithiasis, Podagra, Hyperuricosuria	OMIM:300322
Aa Amyloidosis	Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm...	ORPHA:85445
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ...	OMIM:613095
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Organic aciduria	OMIM:614741
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Decreased circulating renin level, Nephrolithiasis, Hypokalemia	OMIM:615474
Parathyroid Carcinoma	Hypercalcemia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Pancreatitis, Renal hamartoma, Rena...	ORPHA:143
Alagille Syndrome 2	Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency	OMIM:610205
Oligomeganephronia	Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me...	ORPHA:2260
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:28
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot...	ORPHA:839
Nephronophthisis 13	Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:614377
Congenital Anomalies Of Kidney And Urinary Tract 1	Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux	OMIM:610805
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomerulopathy, Prot...	ORPHA:347
Hawkinsinuria	4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria	OMIM:140350
Preeclampsia	Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Prote...	ORPHA:275555
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome	OMIM:614650
Birk-Landau-Perez Syndrome	Hyperechogenic kidneys, Hyperkalemia, Tubulointerstitial nephritis, Renal insufficiency	OMIM:617595
Autosomal Dominant Hypocalcemia	Eczema, Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperph...	ORPHA:428
Methylmalonyl-Coa Epimerase Deficiency	Methylmalonic acidemia, Methylmalonic aciduria, Ketonuria	OMIM:251120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612926
Atresia Of Urethra	Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t...	ORPHA:105
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Nephrolithiasis, Hypocalcemia	ORPHA:93160
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Myh9-Related Disease	Renal insufficiency, Nephritis, Proteinuria, Nephropathy	ORPHA:182050
Muckle-Wells Syndrome	Maculopapular exanthema, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein c...	OMIM:191900
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Hypercalcemia, Renal insufficiency	ORPHA:2123
Alkaptonuria	Arthritis, Decreased glomerular filtration rate, Elevated urinary homogentisic acid, Nephrolithiasis	OMIM:203500
Hawkinsinuria	4-Hydroxyphenylpyruvic aciduria, Abnormal circulating tyrosine concentration, 4-hydroxyphenylacet...	ORPHA:2118
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Elevated circulating acyl...	ORPHA:26792
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati...	OMIM:602088
Galloway-Mowat Syndrome 5	Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:617731
Jeune Syndrome	Nephronophthisis, Renal insufficiency, Nephropathy	ORPHA:474
Familial Mediterranean Fever	Pericarditis, Nephrotic syndrome, Nephrocalcinosis, Peritonitis, Osteoarthritis, Arthritis, Pancr...	ORPHA:342
Leiomyomatosis, Diffuse, With Alport Syndrome	Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k...	OMIM:308940
Urocanase Deficiency	Urocanic aciduria	OMIM:276880
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn...	OMIM:301006
Bartter Syndrome, Type 2, Antenatal	Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prostaglandin E2, Hyp...	OMIM:241200
Fechtner syndrome	Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:153640
Complement Factor I Deficiency	Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,...	OMIM:610984
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine...	OMIM:252160
Galloway-Mowat Syndrome 4	Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler...	OMIM:617730
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Nephrolithiasis, Hypokalemia	ORPHA:369929
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Methylmalonic aciduria	ORPHA:289504
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Myositis, Exercise-induced myoglobinuria, Dark uri...	ORPHA:99845
Alport Syndrome 1, X-Linked	Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d...	OMIM:301050
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Nephritis, Stage 5 chronic kidney disease	OMIM:609057
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnorm...	ORPHA:261222
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Glutaric aciduria, Hyperammonemia, Increased level of hippuric acid in urine, Hyperuricemia, 3-Me...	OMIM:246450
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ethylmalonic aciduria	OMIM:201470
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Nephrocalcinosis, Chronic oral candidiasis, Chronic mucocutaneous candi...	OMIM:240300
Glutaric Acidemia Type 3	Abnormality of circulating enzyme level, Glutaric aciduria, Elevated circulating glutaric acid co...	ORPHA:35706
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Nephropathy, Deafness, And Hyperparathyroidism	Renal insufficiency, Nephropathy	OMIM:256120
Laurence-Moon Syndrome	Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency	ORPHA:2377
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Pauci-Immune Glomerulonephritis	Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat...	ORPHA:93126
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp...	OMIM:613090
Chronic Graft Versus Host Disease	Keratoconjunctivitis sicca, Urinary bladder inflammation, Bronchiectasis, Phimosis, Hematuria, Fa...	ORPHA:99921
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis	OMIM:616084
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivasc...	ORPHA:284426
Senior-Loken Syndrome 3	Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria	OMIM:606995
Familial Tumoral Calcinosis	Skin rash, Nephrocalcinosis	ORPHA:53715
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Pancreatitis, Stage...	OMIM:251000
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease	OMIM:613390
Nephrogenic Diabetes Insipidus	Hypernatremia, Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insuf...	ORPHA:223
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Hypospadias, Renal insufficiency, Nephroblastoma, Nephropathy	OMIM:194072
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Highly elevated creatine kinase, Elevated circulating creatine kinase concentration, Exercise-ind...	ORPHA:368
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Tubulointerstitial fibrosis, Recurrent otitis media, Rheumatoid arthritis, Juvenile rh...	OMIM:607944
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia	ORPHA:97289
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:289916
Xfe Progeroid Syndrome	Proteinuria, Renal insufficiency	OMIM:610965
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis	OMIM:618161
Renal Agenesis	Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U...	ORPHA:411709
Urocanic Aciduria	Abnormal circulating histidine concentration, Urocanic aciduria	ORPHA:210128
Galloway-Mowat Syndrome 10	Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Hypoplasminogenemia	Periodontitis, Decreased level of plasminogen, Cervicitis, Nephrolithiasis	ORPHA:722
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency	OMIM:602152
Galloway-Mowat Syndrome 7	Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri...	OMIM:618348
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Cystinosis, Nephropathic	Renal Fanconi syndrome, Hyponatremia, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Sta...	OMIM:219800
Brown-Vialetto-Van Laere Syndrome 2	Organic aciduria	OMIM:614707
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Increased urinary cortisol level, Hyperlipidemia, Renal cell carcinoma, Acne, Nephrolithiasis	ORPHA:189427
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ...	OMIM:613845
Juvenile Nephropathic Cystinosis	Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu...	ORPHA:411634
Senior-Loken Syndrome 9	Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease	OMIM:616629
Prune Belly Syndrome	Abnormality of the ureter, Congenital posterior urethral valve, Urogenital sinus anomaly, Recurre...	ORPHA:2970
Barth Syndrome	3-Methylglutaconic aciduria, Organic aciduria	OMIM:302060
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia	ORPHA:79327
Alkaptonuria	Prostatitis, Arthritis, Nephrolithiasis, Aminoaciduria, Osteoarthritis	ORPHA:56
Hyperprolinemia Type 2	Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hyperglycinemia...	ORPHA:79101
Pituitary Adenoma 4, Acth-Secreting	Nephrolithiasis, Hypokalemia	OMIM:219090
Congenital Hypothyroidism	Sinusitis, Nephrolithiasis	ORPHA:442
Cystinosis	Renal tubular dysfunction, Hypokalemia, Hypophosphatemia, Nephropathy, Aminoaciduria, Proteinuria...	ORPHA:213
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Hematuria, Arthritis, Glomerulopathy, Viral hepatitis, Proteinuria, R...	ORPHA:91138
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic acidemia, Methylmalonic aciduria	OMIM:309541
Hereditary Coproporphyria	Hyponatremia, Porphyrinuria, Dark urine, Increased urinary porphobilinogen, Nephropathy, Elevated...	ORPHA:79273
Hypophosphatemic Rickets	Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypocalciuria, Renal phosph...	ORPHA:437
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Bor Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob...	ORPHA:107
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency	OMIM:614922
Liddle Syndrome 1	Decreased circulating renin level, Renal insufficiency, Hypokalemia	OMIM:177200
Gaisböck Syndrome	Hyperproteinemia, Nephrocalcinosis, Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridem...	ORPHA:90041
Beckwith-Wiedemann Syndrome	Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
Osteogenesis Imperfecta, Type X	Nephrolithiasis	OMIM:613848
Coproporphyria, Hereditary	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid	OMIM:121300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Congenital m...	ORPHA:369837
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Ethylmalonic aciduria, Hyperglutaminemia, Elevated circulating creatine kinase concentration, Dic...	OMIM:619355
Nephronophthisis 11	Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis...	OMIM:613550
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro...	ORPHA:49041
Musculocontractural Ehlers-Danlos Syndrome	Horseshoe kidney, Hydronephrosis, Nephrolithiasis, Functional abnormality of the bladder, Recurre...	ORPHA:2953
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Nephrotic Syndrome, Type 14	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni...	OMIM:617575
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Nephronophthisis-Like Nephropathy 1	Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis...	OMIM:613159
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Hyperlysinemia, Renal tubular acidosis, Pancreatitis, Decreased plasma carnitine, Abnormal circul...	ORPHA:431361
Nephronophthisis 19	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:616217
Immunodeficiency 91 And Hyperinflammation	Nephrotic syndrome, Hemolytic-uremic syndrome, Recurrent pneumonia, Maculopapular exanthema, Memb...	OMIM:619644
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Nephrocalcinosis	OMIM:618005
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Decreased plasma free carnitine, Hyperalaninemia	OMIM:619048
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali...	ORPHA:139402
Tyrosinemia, Type Ii	4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia	OMIM:276600
Harderoporphyria	Neonatal hyperbilirubinemia, Increased urinary porphobilinogen, Increased circulating ferritin co...	OMIM:618892
Gapo Syndrome	Nephrolithiasis	ORPHA:2067
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Peri...	ORPHA:534
Mitochondrial Complex I Deficiency, Nuclear Type 35	Hyperprolinemia, Elevated urinary 4-hydroxybutyric acid, Hyperalaninemia, Lacticaciduria	OMIM:619003
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the kidney, Nephrolithiasis	ORPHA:521445
Multiple Carboxylase Deficiency	Hyperammonemia, Organic aciduria, Skin rash	ORPHA:148
Primary Pigmented Nodular Adrenocortical Disease	Increased urinary cortisol level, Acne, Nephrolithiasis, Hyperlipidemia	ORPHA:189439
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Pancreatitis, Oliguria, Abnormal renal tubule morphology, Renal insuff...	ORPHA:188
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit...	ORPHA:228308
Holocarboxylase Synthetase Deficiency	Eczema, Perioral eczema, Hyperammonemia, Keratoconjunctivitis, Organic aciduria	ORPHA:79242
Microscopic Polyangiitis	Sinusitis, Pericarditis, Episcleritis, Peritonitis, Hematuria, Arthritis, Pancreatitis, Increased...	ORPHA:727
Pseudoxanthoma Elasticum	Acne, Skin rash, Nephrocalcinosis	ORPHA:758
3-Methylglutaconic Aciduria, Type V	Hypospadias, Glutaric aciduria, 3-Methylglutaric aciduria	OMIM:610198
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise	ORPHA:57
Intellectual Disability-Strabismus Syndrome	Hypospadias, Micropenis, Medullary nephrocalcinosis, Recurrent otitis media	ORPHA:363528
Pediatric Systemic Lupus Erythematosus	Nephrotic syndrome, Myositis, Abnormality of the urinary system, Hematuria, Nephritis, Discoid lu...	ORPHA:93552
Uremic Pruritus	Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk...	ORPHA:94059
Severe Acute Respiratory Syndrome	Acute kidney injury, Acute infectious pneumonia	ORPHA:140896
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated uri...	ORPHA:653
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic a...	OMIM:277400
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hematuria, Arthritis, Uveitis, Inflammatory abnormality of the eye, Skin rash, Glom...	ORPHA:36412
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra...	OMIM:614376
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:79312
Multiple Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu...	OMIM:231680
Lymphedema-Hypoparathyroidism Syndrome	Renal insufficiency, Nephropathy	OMIM:247410
Babesiosis	Renal insufficiency	ORPHA:108
Legius Syndrome	Nephroblastoma, Male urethral meatus stenosis, Nephrolithiasis	ORPHA:137605
Senior-Boichis Syndrome	Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem...	ORPHA:84081
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:27
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy	ORPHA:330001
Dahlberg-Borer-Newcomer Syndrome	Renal insufficiency, Nephropathy, Hypocalcemia	ORPHA:1563
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Shwachman-Diamond Syndrome 1	Nephrocalcinosis	OMIM:260400
Caudal Regression Sequence	Ureteral duplication, Abnormality of the ureter, Renal agenesis, Vesicoureteral reflux, Ectopic k...	ORPHA:3027
Glutaric Aciduria Iii	Glutaric aciduria	OMIM:231690
Congenital Disorder Of Glycosylation, Type Iig	Hypospadias, Hydronephrosis, Renal insufficiency	OMIM:611209
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria	ORPHA:1933
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Renal dysplasia, Hypercalciuria, Nephrocalcinosis	OMIM:300990
Hereditary Hemorrhagic Telangiectasia	Hematuria, Nephrolithiasis, Cholecystitis	ORPHA:774
Brachymesomelia-Renal Syndrome	Renal insufficiency	OMIM:113470
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Proteinuria, Renal insufficiency	ORPHA:1307
Pearson Marrow-Pancreas Syndrome	Renal Fanconi syndrome, Complex organic aciduria, 3-Methylglutaric aciduria	OMIM:557000
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Renal corticomedullary cysts	OMIM:219730
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Nephropathy	OMIM:266920
Legionnaires Disease	Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Hematuria, Hepati...	ORPHA:549
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal dysplasia, Hypoplasia of penis, Renal insufficiency, Renal hypoplasia	ORPHA:85321
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,...	ORPHA:439232
Scrub Typhus	Myocarditis, Infectious encephalitis, Anterior uveitis, Skin rash, Renal insufficiency	ORPHA:83317
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level, Long penis, Nephrocalcinosis	ORPHA:769
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Horseshoe kidney, Renal hypoplasia, Renal agenesis, Renal dysplasia, Bifid ureter, Decreased numb...	OMIM:617641
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis	ORPHA:314652
D-2-Hydroxyglutaric Aciduria 1	D-2-hydroxyglutaric aciduria, Glutaric aciduria	OMIM:600721
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Arthriti...	ORPHA:183
Lamellar Ichthyosis	Chronic otitis media, Erythroderma, Renal insufficiency	ORPHA:313
Simple Cryoglobulinemia	Pericarditis, Nephrotic syndrome, Nephritis, Arthritis, Mesangial hypercellularity, Microscopic h...	ORPHA:91139
Autoimmune Lymphoproliferative Syndrome, Type Iii	Nephrotic syndrome, Membranous nephropathy, Recurrent otitis media, Arthritis, Stage 5 chronic ki...	OMIM:615559
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp...	ORPHA:567546
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Methylmalonic aciduria	OMIM:248360
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Osteopetrosis With Renal Tubular Acidosis	Hydronephrosis, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Nephr...	ORPHA:2785
Fructose Intolerance, Hereditary	Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Proximal rena...	OMIM:229600
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation	Hypospadias, Microscopic nephrocalcinosis, Gastritis, Recurrent pneumonia, Hypercalciuria	OMIM:219721
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Hydronephrosis, Decreased plasma free carnitine, Elevated circulating long ...	OMIM:608836
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis, Acute hyperammonemia, Hyperglycinuria, Organic aciduria, Ketonuria	OMIM:210210
Carnitine Palmitoyltransferase Ii Deficiency	Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit...	ORPHA:157
Acute Intermittent Porphyria	Hyponatremia, Urinary retention, Dysuria, Porphyrinuria, Dark urine, Increased urinary porphobili...	ORPHA:79276
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Acute kidney injury, Proteinuria	OMIM:618886
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Renal cell carcinoma, Arth...	ORPHA:93111
Denys-Drash Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat...	OMIM:194080
Bacterial Toxic-Shock Syndrome	Myocarditis, Sinusitis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Elevated circu...	ORPHA:36234
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency	ORPHA:86818
Amish Lethal Microcephaly	Organic aciduria	ORPHA:99742
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolif...	OMIM:137940
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperammonemia, Decrea...	ORPHA:42
Zimmermann-Laband Syndrome 1

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