Gene: Pou3f3 MGI:102564

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

POU domain, class 3, transcription factor 3

Synonyms:

HST011, Otf8, urehr2, Brn1, Brn-1

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 Pou3f3 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 Pou3f3 (1 diseases)
Human diseases predicted to be associated with Pou3f3 (752 diseases)

The table below shows human diseases associated to Pou3f3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Snijders Blok-Fisher Syndrome		Cupped ear, Protruding ear	OMIM:618604

The table below shows human diseases predicted to be associated to Pou3f3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,...	OMIM:614723
Hypouricemia, Renal, 1	Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Hypouricemia, Renal...	OMIM:220150
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Tub...	OMIM:614817
Adenine Phosphoribosyltransferase Deficiency	Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Urinary retention, Uric aci...	ORPHA:976
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ...	OMIM:128980
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti...	OMIM:161900
Polycystic Kidney Disease 7	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ...	OMIM:620056
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Lipoprotein Glomerulopathy	Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency	OMIM:611771
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal...	OMIM:601331
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Incr...	OMIM:612925
Glomerulopathy With Fibronectin Deposits 2	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti...	OMIM:601894
Renal Hypoplasia, Bilateral	Microscopic hematuria, Proteinuria, Glycosuria, Chronic kidney disease, Beta 2-microglobulinuria,...	ORPHA:97362
Glomerulopathy With Fibronectin Deposits 1	Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:137950
Primary Membranoproliferative Glomerulonephritis	Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ...	ORPHA:54370
Genetic Recurrent Myoglobinuria	Recurrent myoglobinuria, Acute kidney injury, Exercise-induced myoglobinuria, Renal insufficiency...	ORPHA:99845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat...	OMIM:612924
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease	OMIM:602114
C3 Glomerulopathy 3	Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea...	OMIM:614809
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits	ORPHA:69063
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal physiology, Chronic kidney disease, Decreased glomerular filt...	ORPHA:94088
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Nephronophthisis 20	Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral...	OMIM:617271
Focal Segmental Glomerulosclerosis 10	Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit...	OMIM:256020
Deafness-Ear Malformation-Facial Palsy Syndrome	Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a...	ORPHA:3232
Nephrotic Syndrome, Type 7	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Thic...	OMIM:615008
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:620049
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Xanthinuria, Type Ii	Hypouricemia, Renal insufficiency, Increased urinary hypoxanthine, Nephrolithiasis, Increased cir...	OMIM:603592
Hanac Syndrome	Renal insufficiency, Multiple renal cysts, Hematuria	ORPHA:73229
Focal Segmental Glomerulosclerosis 2	Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se...	OMIM:603965
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria...	OMIM:614131
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet...	OMIM:308990
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros...	OMIM:616002
Cystinuria	Recurrent urinary tract infections, Hyperlysinuria, Renal insufficiency, Argininuria, Ornithinuri...	OMIM:220100
Nephrotic Syndrome, Type 15	Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Steroid-resistant...	OMIM:617609
Nephrosialidosis	Death in childhood, Renal insufficiency, Nephropathy, Nephrotic syndrome	OMIM:256150
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Renal tubular atrophy, Hyperuricemia, Chronic kidney disease, Focal segmental glomer...	OMIM:613092
Nephrotic Syndrome, Type 2	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyperlipidemia, Focal segmental ...	OMIM:600995
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperkalemia	OMIM:268200
Nail-Patella-Like Renal Disease	Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2613
Camos Syndrome	Renal insufficiency, Nephrotic syndrome	ORPHA:83472
Focal Segmental Glomerulosclerosis 8	Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:616032
Nephrotic Syndrome, Type 18	Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria	OMIM:607832
Hypercalcemia, Infantile, 2	Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalc...	OMIM:616963
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler...	OMIM:615573
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia	OMIM:620085
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:614199
Nephronophthisis	Renal insufficiency	ORPHA:655
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Renal insufficiency, Periglomerular fibrosis, Polyuria, Tubular l...	OMIM:619468
Nephronophthisis 7	Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:611498
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Decreased glomerular filtration rate, Elevated circulating creatinine concentration	OMIM:242530
Nephrotic Syndrome, Type 17	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:618176
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins...	OMIM:310468
Nephronophthisis 2	Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar...	OMIM:602088
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:617872
Hyperinsulinism Due To Insr Deficiency	Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H...	ORPHA:263458
Deafness, Progressive, With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	OMIM:601449
Progressive Deafness With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	ORPHA:3235
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Hyperuricemia, Decreased glomerular filtration rate, Renal insufficiency, ...	OMIM:162000
Senior-Loken Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:609254
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Complement Factor H Deficiency	Thickened glomerular basement membrane, Hematuria, Chronic kidney disease, Glomerular subendothel...	OMIM:609814
Fibronectin Glomerulopathy	Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno...	ORPHA:84090
Idiopathic Non-Lupus Full-House Nephropathy	Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi...	ORPHA:567544
Deafness, X-Linked 2	Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu...	OMIM:304400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Hyperuricemia, Chronic kidney disease, Increased blood urea nitrogen, Renal salt was...	OMIM:613845
Colchicine Poisoning	Abnormal blood ion concentration, Hypophosphatemia, Renal insufficiency, Hypokalemia, Hypocalcemi...	ORPHA:31824
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome	OMIM:613779
Bardet-Biedl Syndrome 16	Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis	OMIM:615993
Nephronophthisis 12	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613820
Fanconi Renotubular Syndrome 3	Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat...	OMIM:615605
Symphalangism, Proximal, 1A	Conductive hearing impairment, Stapes ankylosis, Proximal symphalangism of hands, Distal symphala...	OMIM:185800
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hy...	ORPHA:35878
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypokalemia, Hypocalcemia, Polyuria, Hyponatremia, Hypomagnesemia	OMIM:620152
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid...	ORPHA:90646
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Decreased serum creatinine, Reduced blood urea...	OMIM:300539
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis	OMIM:613944
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di...	OMIM:613237
Lesch-Nyhan Syndrome	Renal insufficiency, Hematuria, Hyperuricemia	ORPHA:510
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome	OMIM:249660
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien...	ORPHA:411536
Nephrotic Syndrome, Type 6	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:614196
Nephrotic Syndrome, Type 21	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac...	OMIM:618594
Carnitine-Acylcarnitine Translocase Deficiency	Hyperammonemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Elevated...	ORPHA:159
Liddle Syndrome	Renal insufficiency, Nephropathy, Hypokalemia	ORPHA:526
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Hyperammonemia, Organic aciduria, Abnormal circulating leucine concentration	ORPHA:6
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel...	OMIM:616818
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins...	OMIM:143400
Dicarboxylic Aminoaciduria	Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria	OMIM:222730
Nephrotic Syndrome, Type 3	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc...	OMIM:610725
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis...	OMIM:179800
Stapes Ankylosis With Broad Thumbs And Toes	Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle sym...	OMIM:184460
Glycogen Storage Disease Xi	Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate...	OMIM:612933
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Abnormal renal tubule morphology	ORPHA:188
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy	ORPHA:1909
Dent Disease 2	Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating creatine kinase ...	OMIM:300555
Uremic Pruritus	Renal hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney disease, Hypermagnesemia, ...	ORPHA:94059
Glycogen Storage Disease X	Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:261670
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hyperlipidemia, An...	OMIM:235400
Cryoglobulinemia, Familial Mixed	Proteinuria, Abnormal renal physiology, Chronic kidney disease, Hematuria, Elevated circulating c...	OMIM:123550
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Congenital Glucokinase-Related Hyperinsulinism	Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T...	ORPHA:79299
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Chronic kidney disease, Renal cyst, Nephropathy, Focal segmental glomerulosclerosi...	OMIM:617056
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Renal insufficiency, Proteinuria, Decreased HDL cholesterol concentration	OMIM:245900
Preeclampsia	Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Type I diabe...	ORPHA:275555
Senior-Loken Syndrome 4	Polyuria, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:606996
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Polyuria, Hypercal...	OMIM:143880
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypokalemia, Renal potassium wasting, Polyuria, Hypoma...	OMIM:618314
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Polycystic Kidney Disease 5	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti...	OMIM:617610
Nephrotic Syndrome, Type 22	Microscopic hematuria, Hypoproteinemia, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
C3 Glomerulopathy	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot...	ORPHA:329918
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien...	ORPHA:79233
Hinman Syndrome	Recurrent urinary tract infections, Hydronephrosis, Enuresis, Renal insufficiency, Vesicoureteral...	ORPHA:84085
Urofacial Syndrome 2	Recurrent urinary tract infections, Hydronephrosis, Enuresis, Spastic/hyperactive bladder, Megacy...	OMIM:615112
Nephrotic Syndrome, Type 12	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo...	OMIM:616892
Coach Syndrome 3	Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:619113
Hemorrhagic Fever-Renal Syndrome	Proteinuria, Glomerulonephritis, Acute kidney injury, Decreased urine output, Chronic kidney dise...	ORPHA:340
Lassa Fever	Oliguria, Miscarriage	ORPHA:99824
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia	OMIM:300323
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:160010
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Renal insufficiency, Elevated circu...	ORPHA:228302
Senior-Loken Syndrome 1	Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,...	OMIM:266900
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia	ORPHA:2668
Nephrotic Syndrome, Type 8	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,...	OMIM:615244
Propionic Acidemia	Hypoglycemia, Hyperammonemia, Organic aciduria	ORPHA:35
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5...	ORPHA:650
Alport Syndrome 3, Autosomal Dominant	Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Stage 5 chronic kidney ...	OMIM:104200
Cystinuria	Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia	ORPHA:214
Idiopathic Steroid-Resistant Nephrotic Syndrome	Proteinuria, Acute kidney injury, Abnormal circulating lipid concentration, Diffuse mesangial scl...	ORPHA:567548
Otosclerosis 7	Progressive hearing impairment, Conductive hearing impairment, Childhood onset sensorineural hear...	OMIM:611572
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Renal insufficiency	ORPHA:220393
Coenzyme Q10 Deficiency, Primary, 6	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ...	OMIM:614650
Galloway-Mowat Syndrome 8	Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria...	OMIM:618349
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate...	ORPHA:2364
Malaria	Hyperbilirubinemia, Acute kidney injury, Elevated circulating C-reactive protein concentration	ORPHA:673
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Foca...	OMIM:603278
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:28
Atypical Hemolytic Uremic Syndrome	Proteinuria, Acute kidney injury, Hematuria	ORPHA:2134
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
Renal Hypoplasia	Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic...	ORPHA:93101
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hyperalaninemia, Death in infancy, Elevated circulating creatine kinase conc...	OMIM:619386
Nephronophthisis 16	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency...	OMIM:615382
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased total bilirubin	ORPHA:890
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia, Patent ductus arteriosus	OMIM:615996
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia, Aminoaciduria	ORPHA:664
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Decreased glomerular filtration rate, Increased circulating renin level, Hyperp...	OMIM:601198
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Elevated creatine kinase after exercise, Myoglobinuria, Hyperkalemia	ORPHA:57
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney ...	OMIM:609583
Hypomagnesemia 2, Renal	Renal magnesium wasting, Renal insufficiency, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Microscopic Polyangiitis	Oliguria, Renal insufficiency, Glomerulopathy, Hematuria	ORPHA:727
Acute Monoblastic/Monocytic Leukemia	Oliguria	ORPHA:514
Bartter Syndrome, Type 5, Antenatal, Transient	Hypochloremia, Increased circulating renin level, Hypokalemia, Medullary nephrocalcinosis, Hyperc...	OMIM:300971
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Primary Hyperoxaluria Type 2	Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, Renal insufficiency, ...	ORPHA:93599
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Hyperuricemia, Decreased glomerular filtration rate, Stage 5 chronic kidne...	OMIM:174000
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis	OMIM:161950
Thrombotic Thrombocytopenic Purpura	Proteinuria, Acute kidney injury, Renal insufficiency, Decreased serum creatinine, Hematuria	ORPHA:54057
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Increased circulating renin level, Hyperkalemia	OMIM:203400
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Glycosuria, Renal insufficiency, Hypokalemia, Renal tubular dysfunction, Impair...	OMIM:134600
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Renal salt wasting, Increased circulating renin level, Hyperkalemia	OMIM:610600
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Nephrocalcinosis, Renal insufficiency, Hypercalciuria, Hyperphosphaturia, Hyper...	ORPHA:99879
Hyperoxaluria, Primary, Type Ii	Calcium oxalate nephrolithiasis, Nephrocalcinosis, Renal insufficiency, Hematuria, Hyperoxaluria	OMIM:260000
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Cholera	Abnormal blood ion concentration, Miscarriage, Acute kidney injury, Decreased urine output, Abnor...	ORPHA:173
Hyperuricemic Nephropathy, Familial Juvenile, 3	Renal insufficiency, Hyperuricemia, Abnormal renal insterstitial morphology, Impaired renal conce...	OMIM:614227
Thrombotic Thrombocytopenic Purpura, Hereditary	Microscopic hematuria, Proteinuria, Abnormal renal physiology, Hemolytic-uremic syndrome, Increas...	OMIM:274150
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:231111
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Nephrocalcinosis, Renal magnesium wasting, Episodic hypokalemia, Renal potassium wasting, Hypomag...	ORPHA:564178
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Myoglobinuria, Hyperkalemia	OMIM:145600
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Renal insufficiency, Myoglobinuria	OMIM:255110
Renal Tubular Dysgenesis	Anuria, Abnormality of the urinary system, Renotubular dysgenesis	OMIM:267430
Amyloidosis, Finnish Type	Renal insufficiency, Nephrotic syndrome	OMIM:105120
Nephrotic Syndrome, Type 1	Hypoproteinemia, Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffici...	OMIM:256300
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia, Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Maternally-Inherited Diabetes And Deafness	Renal insufficiency, Proteinuria, Glomerulopathy, Abnormal circulating lipid concentration	ORPHA:225
Igg4-Related Retroperitoneal Fibrosis	Hydronephrosis, Acute kidney injury, Ureteropelvic junction obstruction, Renal insufficiency, Nep...	ORPHA:49041
Nephronophthisis 9	Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613824
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Nephronophthisis 3	Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti...	OMIM:604387
Birk-Landau-Perez Syndrome	Tubulointerstitial nephritis, Increased circulating creatine kinase MB isoform, Renal insufficien...	OMIM:617595
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, ...	OMIM:613095
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Enlarged kidney, Macroscopic hematuria, Increased blood urea nitrogen, Membranoproli...	ORPHA:251004
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia, Patent ductus arteriosus	ORPHA:2123
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia	OMIM:610021
Orthostatic Hypotension 1	Nocturia, Neonatal hypoglycemia, Increased blood urea nitrogen, Hypomagnesemia	OMIM:223360
Type 1 Diabetes Mellitus	Decreased level of 1,5 anhydroglucitol in serum, Polyuria	OMIM:222100
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hy...	OMIM:603860
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Insulin resistance, N...	ORPHA:230
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Sepsis In Premature Infants	Oliguria, Reversible renal failure, Elevated circulating C-reactive protein concentration	ORPHA:90051
Familial Reactive Perforating Collagenosis	Chronic kidney disease	ORPHA:79147
Senior-Loken Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease	ORPHA:3156
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Decreased urine output, Anuria, Hyperkalemia, Hypocalcemia, Nephrotic range ...	ORPHA:544482
Hereditary Xanthinuria	Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi...	ORPHA:3467
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Chronic kidney disease, Ren...	OMIM:248250
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting, Hyponatremia, Hyperkalemia	OMIM:264350
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia	OMIM:232700
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien...	ORPHA:411543
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hypoglycemia	OMIM:615158
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chronic kidney disease, Decreased glome...	OMIM:618061
Nephronophthisis 1	Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ...	OMIM:256100
Genetic Steroid-Resistant Nephrotic Syndrome	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,...	ORPHA:656
Megabladder, Congenital	Multiple glomerular cysts, Stage 5 chronic kidney disease, Fetal megacystis, Patent ductus arteri...	OMIM:618719
Liddle Syndrome 1	Decreased circulating renin level, Renal insufficiency, Hypokalemia	OMIM:177200
Nephronophthisis 4	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth...	OMIM:606966
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate, Hypokalemia,...	OMIM:604278
Posterior Urethral Valve	Recurrent urinary tract infections, Enuresis nocturna, Unilateral renal dysplasia, Hydronephrosis...	ORPHA:93110
Duplication Of Urethra	Recurrent urinary tract infections, Micropenis, Rectourethral fistula, Epispadias, Urinary incont...	ORPHA:237
Lujo Hemorrhagic Fever	Oliguria, Renal insufficiency, Elevated circulating C-reactive protein concentration, Microscopic...	ORPHA:319213
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration	ORPHA:97292
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Hypercalciuria	OMIM:602722
Renal Tubular Acidosis Iii	Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Hypokalemia	OMIM:267200
Fanconi Renotubular Syndrome 2	Proteinuria, Hypophosphatemia, Decreased glomerular filtration rate, Glycosuria, Renal phosphate ...	OMIM:613388
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Hypercholeste...	OMIM:620211
Immunodeficiency, Common Variable, 6	Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ...	OMIM:613496
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Abnormal localization of kidney, Increased serum ir...	ORPHA:446
Ochoa Syndrome	Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Ur...	ORPHA:2704
Renal Glucosuria	Enuresis nocturna, Polyuria, Glycosuria	OMIM:233100
Multiple Synostoses Syndrome 4	Tarsal synostosis, Otosclerosis	OMIM:617898
Congenital Anomalies Of Kidney And Urinary Tract 1	Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve...	OMIM:610805
Late-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Increased circulating renin level, Hyperkalemia	ORPHA:556037
Dent Disease 1	Microscopic hematuria, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphat...	OMIM:300009
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased circulating renin level, Hypokalemia, Abnormal magnesium concentration, Increased serum...	OMIM:241150
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri...	ORPHA:730
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Polycystic kidney dysplasia, Acute kidney injury, Stage 5 chr...	ORPHA:731
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Acute kidney injury, Decreased urine output, Elevated circulating creatinine ...	ORPHA:542323
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Abnormal renal corticomedullary differentiation, Elevated circulating creatinine...	OMIM:616733
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl...	OMIM:191800
Nephronophthisis 13	Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea...	OMIM:614377
Alport Syndrome 2, Autosomal Recessive	Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Thickened glomerular basement m...	OMIM:203780
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Hematuria, Hypernatremia, Hypercalcemia	ORPHA:35710
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Renal salt wasting, Hyponatremia, Hyperkalemia	OMIM:614736
Oligomeganephronia	Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati...	ORPHA:2260
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Increased circulating renin level, Hyperkalemia	ORPHA:556030
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyper...	ORPHA:466650
Renal Coloboma Syndrome	Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ...	ORPHA:1475
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Increased ...	OMIM:613090
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Hypokalemia, Unconjugated hyperbilirubinemia, Anuria, Hyponatremia, Hemoglob...	ORPHA:90038
Renal Dysplasia	Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi...	ORPHA:93108
46,Xy Sex Reversal 4	Hydronephrosis, Ureteropelvic junction obstruction, Increased blood urea nitrogen, Renal dysplasi...	OMIM:154230
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Fanconi Anemia, Complementation Group O	Hydronephrosis, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Death in infancy, Neonat...	OMIM:613390
Renal Cysts And Diabetes Syndrome	Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Decreased numbers of nephrons,...	OMIM:137920
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Renal insuff...	OMIM:300554
Senior-Loken Syndrome 3	Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polyuria	OMIM:606995
Fanconi Renotubular Syndrome 5	Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Hypophosphatemic ricke...	OMIM:618913
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Hyperuricemia, Chronic kidney disease, Vesicoureteral ref...	ORPHA:261222
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulat...	OMIM:223900
Nephrotic Syndrome, Type 11	Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ...	OMIM:616730
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction	ORPHA:289916
Retinitis Pigmentosa 59	Renal insufficiency, Micropenis	OMIM:613861
Nephronophthisis 18	Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened gl...	OMIM:615862
Dent Disease	Renal hypophosphatemia, Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney dise...	ORPHA:1652
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614376
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Renal cyst, Renal insufficiency, Death in infancy, Neonatal death, Renal dysp...	OMIM:614922
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Neonatal death	OMIM:300076
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia	ORPHA:79327
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level, Increased urinary potassiu...	OMIM:607364
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox...	OMIM:167030
Juvenile Nephropathic Cystinosis	Microscopic hematuria, Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kid...	ORPHA:411634
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Nephrocalcinosis, Chronic kidney disease, Renal magnesium was...	OMIM:248190
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Isothenuria	OMIM:611590
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Hypokalemia, Renal sodium wasting, Abnormal urine sodium c...	ORPHA:320
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Enlarged kid...	ORPHA:85445
Multiple Synostoses Syndrome 1	Conductive hearing impairment, Stapes ankylosis, Proximal/middle symphalangism of 4th finger, Dis...	OMIM:186500
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Proteinuria, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Hypouricemia, Diabetes mellitus, Ami...	OMIM:616026
Ethylene Glycol Poisoning	Decreased urine output, Renal insufficiency, Renal tubular dysfunction, Hyperkalemia, Renal tubul...	ORPHA:31826
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Renal insufficiency, Proteinuria	OMIM:134610
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Familial Hypoaldosteronism	Proximal renal tubular acidosis, Increased circulating renin level, Decreased urinary potassium, ...	ORPHA:427
Jeune Syndrome	Renal insufficiency, Nephropathy, Nephronophthisis	ORPHA:474
Muckle-Wells Syndrome	Renal amyloidosis, Renal insufficiency, Elevated circulating C-reactive protein concentration	OMIM:191900
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Radioulnar synostosis, Enamel agenesis, Stapes ankylosis	OMIM:614701
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Glomerulopathy, Hematuria	ORPHA:375
Galloway-Mowat Syndrome 5	Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch...	OMIM:617731
Alagille Syndrome 2	Proteinuria, Renal cyst, Renal insufficiency, Hematuria, Renal tubular acidosis, Renal hypoplasia	OMIM:610205
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperammonemia, Elevated circulating fumarate concentration, Hyperalaninemia, Elevated circulatin...	OMIM:615160
Frasier Syndrome	Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:136680
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Helix Syndrome	Renal insufficiency, Hypokalemia, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Polyuria	OMIM:617671
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Renal insufficiency, Hypermagnesemia, Hypocalciuria, Multiple small medullary r...	OMIM:600740
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Global glomerulosclerosis, Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular ...	OMIM:602522
Growth Hormone Insensitivity Syndrome	Diabetes mellitus, Hypoplasia of penis, Type II diabetes mellitus, Insulin resistance, Hyperchole...	ORPHA:181393
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Nephritis, Glomerular basement membrane disruption, Thickened glomerular basement membrane, Stage...	OMIM:609057
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy	OMIM:166300
Immunodeficiency 91 And Hyperinflammation	Death in childhood, Hemolytic-uremic syndrome, Renal insufficiency, Death in infancy, Nephrotic s...	OMIM:619644
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Renal steatosis, Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Polyuria, Hypokalemia, Hypercalciuria	OMIM:613677
Aapoaiv Amyloidosis	Proteinuria, Renal interstitial amyloid deposits, Chronic kidney disease, Renal amyloidosis, Diab...	ORPHA:439232
Cystinosis	Proteinuria, Hypophosphatemia, Renal insufficiency, Nephropathy, Hypokalemia, Renal tubular dysfu...	ORPHA:213
Laurence-Moon Syndrome	Renal insufficiency, Displacement of the urethral meatus, Hypoplasia of penis	ORPHA:2377
Amelogenesis Imperfecta, Type Ig	Enuresis, Nephrocalcinosis, Renal insufficiency, Polyuria, Impaired renal concentrating ability	OMIM:204690
Primary Hyperoxaluria Type 1	Recurrent urinary tract infections, Enuresis, Nephrocalcinosis, Decreased glomerular filtration r...	ORPHA:93598
Frasier Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia, Hypoglycemia	ORPHA:364
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti...	OMIM:301006
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Chronic kidney disease, Exercise-induced myoglobinuria, Elevated circulating...	ORPHA:368
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Hypernatremia, Megacystis	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Hypernatremia, Megacystis	OMIM:304800
Otosclerosis 10	Otosclerosis	OMIM:615589
Riboflavin Deficiency	Hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria	OMIM:615026
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatine kinase concentration, Elevated circulating creatinin...	OMIM:620138
Nephronophthisis 11	Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ...	OMIM:613550
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine	OMIM:617744
Schinzel-Giedion Syndrome	Hydronephrosis, Low-set ears, Retrognathia, Micropenis, Abnormal helix morphology, Renal cyst, Ab...	ORPHA:798
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Hypernatremia, Hydroureter, Renal insufficiency, Functional abnormality of the...	ORPHA:223
Blue Diaper Syndrome	Blue urine, Increased proinsulin:insulin ratio, Nephrocalcinosis, Recurrent hypoglycemia, Hyperph...	ORPHA:94086
Congenital Megacalycosis	Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R...	ORPHA:93109
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Abnormal urine sebacic acid ...	OMIM:615751
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Nephrotic Syndrome, Type 14	Proteinuria, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic s...	OMIM:617575
Papillorenal Syndrome	Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C...	OMIM:120330
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Chronic kidney disease, Exercise-induced myoglobinuria, Elevated creatine ki...	ORPHA:284426
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Hypocalcemia, Hypoglycemia	ORPHA:163693
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Hyperammonemia	ORPHA:79312
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Hypoglycemia	OMIM:306000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polycystic kidney dysplasia, Hydronephrosis, Hyperammonemia, Decreased plasma free carnitine, Enl...	OMIM:608836
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Prune Belly Syndrome	Recurrent urinary tract infections, Hydroureter, Abnormality of the ureter, Renal insufficiency, ...	ORPHA:2970
Primary Hyperoxaluria Type 3	Calcium oxalate nephrolithiasis, Abnormal renal physiology, Nephrocalcinosis, Hematuria, Dysuria,...	ORPHA:93600
Hyperprolinemia Type 2	Hyperglycinemia, Renal insufficiency, Hyperalaninemia, Hydroxyprolinuria, Prolinuria, Hyperprolin...	ORPHA:79101
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, 3-Methylglutaconic aciduria, Hyperammonemia, Elevated circulating creatine kinase c...	OMIM:618120
Coach Syndrome 2	Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Megacystis, Pyelonephritis, Renal cortical hyperechogenicity, Patent ductus arteriosus, Anuria, F...	OMIM:619351
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft...	ORPHA:423
Treacher Collins Syndrome 2	Conductive hearing impairment, Retrognathia, Malar flattening, Microretrognathia, Micrognathia, F...	OMIM:613717
Alport Syndrome	Microscopic hematuria, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Glomer...	ORPHA:63
Myh9-Related Disease	Nephritis, Renal insufficiency, Proteinuria, Nephropathy	ORPHA:182050
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Nephroblastoma, Nephropathy, Hypospadias	OMIM:194072
Primary Fanconi Renotubular Syndrome	Proximal renal tubular acidosis, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney...	ORPHA:3337
Osteogenesis Imperfecta, Type Iv	Wormian bones, Dentinogenesis imperfecta, Otosclerosis, Hearing impairment	OMIM:166220
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Conductive hearing impairment, Abnormal antihelix morphology, Supernumerary tooth, Carious teeth,...	ORPHA:3145
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hyperammonemia, Hyperuricemia, Increased level of 3-hy...	OMIM:246450
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Renal tubular atrophy, Proteinuria, Renal...	ORPHA:85450
Nephronophthisis 19	Renal interstitial fibrosis, Hyperechogenic kidneys, Nephronophthisis, Stage 5 chronic kidney dis...	OMIM:616217
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:27
Craniosynostosis And Dental Anomalies	Chronic otitis media, Coronal craniosynostosis, Prominent metopic ridge, Conductive hearing impai...	OMIM:614188
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Myoglobinuria	ORPHA:713
Dahlberg-Borer-Newcomer Syndrome	Renal insufficiency, Nephropathy, Hypocalcemia	ORPHA:1563
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Postprandial hyperglycemia, Hyperlipidemia, Ketonuria, Ketotic hypoglycemia	ORPHA:2089
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in childhood, Polyuria, Proximal tubulopathy, Death in adolescence	OMIM:560000
Paroxysmal Nocturnal Hemoglobinuria	Proteinuria, Acute kidney injury, Reduced haptoglobin level, Glycosuria, Chronic kidney disease, ...	ORPHA:447
Hyperkalemic Periodic Paralysis	Death in early adulthood, Death in infancy, Hypokalemia, Elevated circulating creatine kinase con...	ORPHA:682
Leiomyomatosis, Diffuse, With Alport Syndrome	Microscopic hematuria, Proteinuria, Abnormal renal physiology, Stage 5 chronic kidney disease, Re...	OMIM:308940
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Galloway-Mowat Syndrome 4	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc...	OMIM:617730
Pauci-Immune Glomerulonephritis	Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Decreased glomerular...	ORPHA:93126
Relapsing Fever	Acute kidney injury, Increased total bilirubin, Hematuria, Elevated circulating C-reactive protei...	ORPHA:91547
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Death in infancy, Cystic renal dysplasia, Neonatal death	OMIM:613730
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	OMIM:154275
Neuroleptic Malignant Syndrome	Proteinuria, Acute kidney injury, Hyperuricemia, Urinary incontinence, Hyperphosphatemia, Elevate...	ORPHA:94093
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Enuresis, Increased circulating renin level, Hypokalemia, Hypocalciuria, Renal sodium wasting, Re...	OMIM:612780
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Glycogen Storage Disease Ixb	Hyperuricemia, Hypoglycemia	OMIM:261750
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ...	OMIM:263200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Proteinuria, Glomerulopathy, Renal insufficiency, Nephropathy, Nephrotic syndrome, Focal segmenta...	OMIM:254900
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	OMIM:154276
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal...	OMIM:211900
Galloway-Mowat Syndrome 7	Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ...	OMIM:618348
Atresia Of Urethra	Recurrent urinary tract infections, Hydronephrosis, Megacystis, Hydroureter, Renal insufficiency,...	ORPHA:105
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Acute Adrenal Insufficiency	Increased circulating renin level, Hyperuricemia, Decreased urinary potassium, Renal insufficienc...	ORPHA:95409
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polycystic kidney dysplasia, Hyperammonemia, Tubulointerstitial nephritis, Decreased plasma free ...	ORPHA:228308
Pyruvate Carboxylase Deficiency	Proximal renal tubular acidosis, Hyperalaninemia, Increased serum pyruvate, Hypoglycemia	OMIM:266150
Bor Syndrome	Hydronephrosis, Ureteropelvic junction obstruction, Renal insufficiency, Renal hypoplasia/aplasia...	ORPHA:107
Xq21 Microdeletion Syndrome	Conductive hearing impairment, Stapes ankylosis, Ankle clonus, Bilateral sensorineural hearing im...	ORPHA:1435
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Calcinosis, Hypercalciuria, Aminoaciduria, Polyuria, Hyperphosphaturia, Hyperca...	OMIM:239200
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Proteinuria, Acute kidney injury, Death in infancy	OMIM:618886
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Death in childhood, Hyperalaninemia, Renal insufficiency, Mild proteinuria, Increased serum pyruv...	OMIM:619147
Alport Syndrome 1, X-Linked	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Thickene...	OMIM:301050
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Increased blood urea nitrogen	ORPHA:90321
Galloway-Mowat Syndrome 10	Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Pyruvate Dehydrogenase E3 Deficiency	Hyperammonemia, Elevated circulating branched chain amino acid concentration, Hyperisoleucinemia,...	ORPHA:2394
Mody	Neonatal hypoglycemia, Abnormality of the kidney, Glycosuria, Renal cyst, Diabetic ketoacidosis, ...	ORPHA:552
Fanconi-Bickel Syndrome	Proteinuria, Hypophosphatemia, Glycosuria, Beta 2-microglobulinuria, Hypouricemia, Hypergalactose...	OMIM:227810
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
East Syndrome	Enuresis, Increased circulating renin level, Renal magnesium wasting, Abnormal urinary electrolyt...	ORPHA:199343
Treacher Collins Syndrome 3	Conductive hearing impairment, Malar flattening, Micrognathia, Hypoplasia of the zygomatic bone, ...	OMIM:248390
Osteogenesis Imperfecta, Type I	Wormian bones, Dentinogenesis imperfecta, Otosclerosis, Hearing impairment	OMIM:166200
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Tubular luminal dilata...	OMIM:219730
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hyperammonemia, Hypoglycemia	OMIM:620137
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovale...	OMIM:210200
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proximal renal tubular acidosis, Proteinuria, Unilateral renal dysplasia, Nephrocalcinosis, Chron...	OMIM:146255
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease	ORPHA:280062
Maternal Uniparental Disomy Of Chromosome 2	Miscarriage, Renal insufficiency, Renal dysplasia, Chordee, Elevated amniotic fluid alpha-fetopro...	ORPHA:96179
Rhyns Syndrome	Renal insufficiency, Nephronophthisis, Chronic kidney disease	OMIM:602152
Babesiosis	Renal insufficiency	ORPHA:108
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Increased circulating renin level, Hyperkalemia	OMIM:620126
Bardet-Biedl Syndrome 17	Stage 5 chronic kidney disease, Polyuria, Micropenis, Renal cyst	OMIM:615994
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Teratoma, Pineal	Polyuria	OMIM:273120
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Postprandial hyperglycemia, Hyperinsul...	OMIM:262190
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Increased circulating renin level, Hyperkalemia	OMIM:620125
Bartter Syndrome, Type 1, Antenatal	Hypochloremia, Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level, Increased u...	OMIM:601678
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Hyperuricemia, Horseshoe kidney, Renal...	ORPHA:93111
Diffuse Alveolar Hemorrhage	Proteinuria, Hematuria, Elevated circulating creatinine concentration	ORPHA:90060
Mirage Syndrome	Recurrent urinary tract infections, Microphallus, Hyperkalemia, Patent ductus arteriosus, Hyponat...	OMIM:617053
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Renal dysplasia, Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Polyuria, ...	OMIM:618183
Orthostatic Hypotension 2	Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Renal Agenesis	Proteinuria, Renal insufficiency, Unilateral renal agenesis, Renal agenesis, Bilateral renal agen...	ORPHA:411709
Bartter Syndrome Type 4	Acute kidney injury, Hypochloremia, Nephrocalcinosis, Chronic kidney disease, Stage 5 chronic kid...	ORPHA:89938
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Glomerulonephritis, Pyelonephritis	OMIM:610984
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Hypernatriuria, Hyperkalemia, Renal salt wasting, Hyponatremia	ORPHA:361
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu...	ORPHA:567546
Cystinosis, Nephropathic	Hypokalemia, Reduced blood urea nitrogen, Hypomagnesemia, Proteinuria, Renal Fanconi syndrome, Ne...	OMIM:219800
Wolcott-Rallison Syndrome	Hyperammonemia, Chronic kidney disease, Renal insufficiency, Hyperbilirubinemia, Hyponatremia, Hy...	ORPHA:1667
Lymphedema-Hypoparathyroidism Syndrome	Renal insufficiency, Nephropathy	OMIM:247410
Senior-Loken Syndrome 9	Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis	OMIM:616629
Galactosemia	Renal insufficiency, Hypergalactosemia, Increased level of galactitol in plasma	ORPHA:352
Hereditary Fructose Intolerance	Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Renal insufficiency, Hypermagnesemia	ORPHA:469
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Penoscrotal hypospadias, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hyp...	ORPHA:90791
Hemochromatosis, Neonatal	Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentrati...	OMIM:231100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Hyperglutaminemia, Hyperalaninemia, Elevated circulating creatine...	OMIM:619355
Yellow Fever	Acute kidney injury, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyp...	ORPHA:99829
Corticosteroid-Binding Globulin Deficiency	Decreased urinary potassium, Hypokalemia	OMIM:611489
Caudal Regression Syndrome	Ectopic kidney, Abnormality of the ureter, Renal insufficiency, Ureteral duplication, Vesicourete...	ORPHA:3027
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal dysplasia, Renal insufficiency, Renal hypoplasia, Hypoplasia of penis	ORPHA:85321
Gitelman Syndrome	Enuresis, Increased circulating renin level, Renal magnesium wasting, Hypokalemia, Hypocalciuria,...	OMIM:263800
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Proteinuria, Methylmalonic acidemia, Hemolytic-uremic syndrome, Renal insufficiency, Nephropathy,...	OMIM:277400
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Nephropathy, Nephrotic syndrome	ORPHA:330001
Enamel-Renal Syndrome	Enuresis, Nephrocalcinosis, Renal insufficiency, Nephropathy, Hypocalciuria, Hypophosphaturia, Im...	ORPHA:1031
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia	ORPHA:2158
Goodpasture Syndrome	Glomerular crescent formation, Proteinuria, Glomerulonephritis, Renal insufficiency, Macroscopic ...	OMIM:233450
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Perineal hypospadias, Penoscrotal hypospadias, Micropenis, Microphallus, Hyperkalemia, Scrotal hy...	OMIM:201810
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Increased circulating renin level, Hyperkalemia	OMIM:177735
Phosphoribosylpyrophosphate Synthetase Superactivity	Death in childhood, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficienc...	OMIM:300661
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Nephrotic syndrome, Membranou...	OMIM:615559
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Death in infancy, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Hypo...	ORPHA:2237
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Variant Abeta2M Amyloidosis	Renal amyloidosis, Chronic kidney disease	ORPHA:314652
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypoglycemia, Hypospadias	OMIM:201910
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Mullegama-Klein-Martinez Syndrome	Low-set ears, Atresia of the external auditory canal, Sensorineural hearing impairment, Micrognat...	OMIM:301022
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Thyrotoxic Periodic Paralysis	Urinary retention, Decreased urinary potassium, Transient hypophosphatemia, Hyperkalemia, Episodi...	ORPHA:79102
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Chronic kidney disea...	ORPHA:84081
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Fasting hypoglycemia, Impaired gluconeogenesis, Low plasma citrulline, Ketonuria, Renal steatosis...	OMIM:261680
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperammonemia, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Methylmalonic acide...	OMIM:251000
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperammonemia, Acute hyperammonemia, Hyperleucinemia, Ketonuria, Decreased plasma carnitine, Hyp...	OMIM:210210
Cryoglobulinemic Vasculitis	Renal insufficiency, Proteinuria, Glomerulopathy, Hematuria	ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 55	Enuresis, Hypophosphatemia, Renal Fanconi syndrome, Elevated circulating creatine kinase concentr...	OMIM:619743
Carnitine Palmitoyltransferase Ii Deficiency	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Decrea...	ORPHA:157
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M...	OMIM:617641
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypophosphatemia, Glyco...	ORPHA:411629
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease	OMIM:613819
Nephronophthisis-Like Nephropathy 1	Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ...	OMIM:613159
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele	ORPHA:261265
Infantile Liver Failure Syndrome 2	Hyperammonemia, Hypoglycemia	OMIM:616483
Meningococcal Meningitis	Renal insufficiency, Elevated circulating C-reactive protein concentration	ORPHA:33475
Senior-Loken Syndrome 8	Global glomerulosclerosis, Nephronophthisis, Glomerular subepithelial immune-complex deposits, St...	OMIM:616307
Snakebite Envenomation	Acute kidney injury, Hyponatremia	ORPHA:449285
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Distal Renal Tubular Acidosis	Hypocitraturia, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesiuria, Renal c...	ORPHA:18
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Proteinuria, Micropenis, Stage 5 chronic kidney disease, Rena...	OMIM:619487
Bartter Syndrome, Type 2, Antenatal	Hypochloremia, Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level, Increased u...	OMIM:241200
Mercury Poisoning	Acute kidney injury, Hypokalemia	ORPHA:330021
Tyrosinemia, Type I	Nephrocalcinosis, Enlarged kidney, Elevated circulating alpha-fetoprotein concentration, Renal Fa...	OMIM:276700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Chronic kidney disease	OMIM:615630
Glycogen Storage Disease Ic	Proteinuria, Hyperuricemia, Decreased glomerular filtration rate, Renal insufficiency, Hyperlipid...	OMIM:232240
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, 3-Methylglutaconic aciduria, Nephrocalcinosis, Renal cyst	ORPHA:445038
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Legionnaires Disease	Renal insufficiency, Proteinuria, Hyponatremia, Hematuria	ORPHA:549
Denys-Drash Syndrome	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro...	OMIM:194080
Acute Intermittent Porphyria	Urinary retention, Urinary incontinence, Renal insufficiency, Porphyrinuria, Increased urinary po...	ORPHA:79276
Renal-Hepatic-Pancreatic Dysplasia 1	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Ureteral atresia, R...	OMIM:208540
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Decreased circulating renin level, Hyperkalemia	OMIM:614492
Multiple Myeloma	Acute kidney injury, Hyperproteinemia, Nephropathy, Nephrotic syndrome, Abnormality of the bladde...	ORPHA:29073
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal urine potassium concentration, Hypernatriuria, Increased circulating renin level, Urogen...	ORPHA:168558
Alstrom Syndrome	Hyperuricemia, Tubulointerstitial nephritis, Renal insufficiency, Hypertriglyceridemia, Decreased...	OMIM:203800
17Q24.2 Microdeletion Syndrome	Abnormality of the wrist, Recurrent otitis media, Progressive conductive hearing impairment, Otos...	ORPHA:529962
Hyperoxaluria, Primary, Type I	Calcium oxalate nephrolithiasis, Nephrocalcinosis, Renal insufficiency, Hematuria, Hyperoxaluria	OMIM:259900
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Decreased circulating renin level, Nephrolithiasis, Hypokalemia	OMIM:615474
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of

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