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

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 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.

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

The table below shows human diseases predicted to be associated to Grhpr 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
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