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

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 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.

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
Hypoplasia of the corpus callosum, Cupped ear, Hypoplasia of the olfactory bulb, Protruding ear OMIM:618604

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... OMIM:614723
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... OMIM:128980
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Hyperuricemic Nephropathy, Familial Juvenile, 3
Nephropathy, Renal insufficiency OMIM:614227
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612926
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, Highly elevat... ORPHA:99845
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... OMIM:614131
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Hyperuricemia, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Aplasia/Hy... ORPHA:3232
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
External ear malformation, Conductive hearing impairment, Abnormality of the stapes OMIM:124490
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Nephrosialidosis
Nephrotic syndrome, Death in childhood, Nephropathy, Renal insufficiency OMIM:256150
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobinuria, Acute kidney injury OMIM:268200
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental... OMIM:615573
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Azotemia, Familial
Azotemia OMIM:109160
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Abnormal ... ORPHA:567544
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Hypophosph... OMIM:616963
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... OMIM:619468
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Nephronophthisis
Renal insufficiency ORPHA:655
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... OMIM:162000
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Glomerular subendothelial electro... OMIM:609814
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Retinitis Pigmentosa 59
Micropenis, Renal insufficiency OMIM:613861
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Colchicine Poisoning
Oliguria, Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphat... ORPHA:31824
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Symphalangism, Proximal, 1A
Carpal synostosis, Conductive hearing impairment, Distal symphalangism of hands, Proximal symphal... OMIM:185800
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Xanthinuria, Type Ii
Hypouricemia, Nephrolithiasis, Renal insufficiency OMIM:603592
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Lesch-Nyhan Syndrome
Hyperuricemia, Hematuria, Renal insufficiency ORPHA:510
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... OMIM:179800
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:610725
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated ... ORPHA:159
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Stapes Ankylosis With Broad Thumbs And Toes
Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vertebrae, Stapes anky... OMIM:184460
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Organic aciduria, Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental glo... OMIM:603278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... OMIM:235400
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Chronic kidney disease, Stage 5 ch... ORPHA:94059
Birk-Landau-Perez Syndrome
Hyperkalemia, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency OMIM:617595
Systemic Capillary Leak Syndrome
Oliguria, Abnormal renal tubule morphology, Renal insufficiency ORPHA:188
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia OMIM:617950
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Preeclampsia
Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Abnormality of t... ORPHA:275555
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Senior-Loken Syndrome 4
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Elevated circulating creatinine c... ORPHA:329918
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Hyperuricemia, Hprt-Related
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hema... ORPHA:340
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Hypoproteinemia, Glomerular sclerosis, Nephrotic syndrome, Thic... OMIM:619155
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Hypokalemia, Polyuria OMIM:304900
Coach Syndrome 3
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... OMIM:619113
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury OMIM:160010
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hypercalcemia, Proteinuria ORPHA:2668
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency,... OMIM:613388
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:614736
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Cystinuria
Hyperuricemia, Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Proteinuria, Acute kidney injury, Decrease... ORPHA:650
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Propionic Acidemia
Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:35
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Acute tubulointerstitial nephritis, Reversible ren... OMIM:607665
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Hypercholesterolemia, Abnormal glo... ORPHA:567548
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, Red-brown urine, ... ORPHA:228302
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury ORPHA:57
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency ORPHA:220393
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... ORPHA:2364
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hyperammonemia ORPHA:664
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Hyperuricemia, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperamylasemia, Elevated circulating creatine kinase concentration, Aminoaciduri... OMIM:619386
Lassa Fever
Oliguria, Miscarriage ORPHA:99824
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:203400
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Acute kidney injury ORPHA:673
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:610600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Hyperphosphaturia, Rena... ORPHA:99879
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia OMIM:618314
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Microscopic Polyangiitis
Oliguria, Glomerulopathy, Hematuria, Renal insufficiency ORPHA:727
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Renal insufficiency ORPHA:28
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Acute kidney injury, Hematuria, Proteinuria, Renal insufficiency ORPHA:54057
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Hypocalciuria OMIM:154020
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Hyperinsulinemia OMIM:606528
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Renal insufficiency ORPHA:890
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Polycystic kidney dysplasia, Recurrent urinary tra... OMIM:613095
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Proteinuria, Increased ... OMIM:274150
Renal Tubular Dysgenesis
Anuria, Renotubular dysgenesis, Abnormality of the urinary system OMIM:267430
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... ORPHA:564178
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Hematuria, ... ORPHA:231111
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Glomerular sclerosis, Hyperlipidemia, Congenital ne... OMIM:256300
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Macroscopic hematuria... ORPHA:251004
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:225
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, A... ORPHA:49041
Cholera
Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnormal blood ion concen... ORPHA:173
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia OMIM:143880
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Patent ductus arteriosus, Renal hypoplasia/aplasia ORPHA:2123
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Hyperuricemia, Rena... OMIM:603860
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal insufficiency, Neph... OMIM:615382
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Hypouricemi... ORPHA:3467
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Hyperuricemia, Crystalluria, Renal insufficiency, Uric acid... ORPHA:411543
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Hyponatremia, Decreased urine output, Acute kidney injury, Anuria, Hyperkalemia, Hypoca... ORPHA:544482
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Renal insufficiency, Uric acid nephrolithiasis, Hyperuricosuria OMIM:300661
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Elevated urinary dopamine, Hyperinsu... ORPHA:230
Sepsis In Premature Infants
Oliguria, Elevated circulating C-reactive protein concentration, Reversible renal failure ORPHA:90051
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:264350
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Renal insufficiency ORPHA:3222
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Senior-Loken Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease ORPHA:3156
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Hypoalbuminemia, Foamy urine, S... ORPHA:656
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, H... OMIM:613845
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Increased circulating renin level, Hyponatremia ORPHA:556037
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-was... OMIM:604278
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Proximal tubulo... OMIM:241150
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease, Patent ductus arteriosus OMIM:617661
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency OMIM:201310
Megabladder, Congenital
Multiple glomerular cysts, Patent ductus arteriosus, Hyperechogenic kidneys, Fetal megacystis, St... OMIM:618719
Lujo Hemorrhagic Fever
Oliguria, Elevated circulating C-reactive protein concentration, Microscopic hematuria, Renal ins... ORPHA:319213
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Neonatal Hemochromatosis
Abnormal localization of kidney, Increased circulating ferritin concentration, Hypoglycemia, Incr... ORPHA:446
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Increased serum bile a... ORPHA:731
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Increased circulating renin level, Hyponatremia ORPHA:556030
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Decreased urine output, Acute ... ORPHA:542323
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dicarboxylic aciduria, Decreased plasma carnitine, Elevated circulating acy... ORPHA:79159
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Ur... ORPHA:2704
Exercise-Induced Malignant Hyperthermia
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase c... ORPHA:466650
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Cerebral calcification, Conductive hearing impairment, Carious teeth, Supernumerary tooth, Microg... ORPHA:3145
Glucose-Galactose Malabsorption
Nephrolithiasis, Hypercalcemia, Hematuria, Renal insufficiency, Hypernatremia ORPHA:35710
Duplication Of Urethra
Bladder duplication, Penile hypospadias, Chordee, Unilateral renal hypoplasia, Dysuria, Micropeni... ORPHA:237
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Acute kidney injury, An... ORPHA:90038
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria ORPHA:2158
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Microcephaly, Radioulnar synostosis, Enamel agenesis, Stapes ankylosis OMIM:614701
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Nephrolithiasis, Decreased numbers of nephrons... OMIM:137920
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level, Renal insufficiency OMIM:177200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Hypophosphatemic rickets... OMIM:300554
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Stage 2 chro... OMIM:191800
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency OMIM:618061
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hydronephrosis, Ren... OMIM:154230
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... OMIM:618913
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:616730
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Hyperuricemia, Ve... ORPHA:261222
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Increased circulating renin level, Hyperkalemia, Renal... ORPHA:427
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... OMIM:614196
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Elevated circulating creatinine concentration, H... ORPHA:411634
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Glomerular sclerosis, Elevated circulating creatinine concentratio... OMIM:223900
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Immunoneurologic Disorder, X-Linked
Neonatal death, Functional abnormality of the bladder OMIM:300076
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Hyperammonemia, Renal insufficiency ORPHA:289916
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Glomerulonephritis,... OMIM:614376
Multiple Synostoses Syndrome 1
Carpal synostosis, Dislocated radial head, Conductive hearing impairment, Proximal/middle symphal... OMIM:186500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:611590
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Hypoglycemia, Proteinuria, Hyperphosphaturia, Hypouricemia, Aminoac... OMIM:616026
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Hyperkalemia, Hypocalcemia, Renal i... ORPHA:31826
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hypoglycemia, 3-Methylglutaconic aciduria, Hy... OMIM:618120
Jeune Syndrome
Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Schinzel-Giedion Syndrome
Abnormality of the outer ear, Hydronephrosis, Micrognathia, Abnormality of the stapes, Retrognath... ORPHA:798
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Frasier Syndrome
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:136680
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria ORPHA:375
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Hypermagnesemia, Hypocalciuria OMIM:617671
Alg1-Cdg
Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Renal insufficiency ORPHA:79327
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Apparent Mineralocorticoid Excess
Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentration, Decreased circulating renin l... ORPHA:320
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis, Renal steatosis OMIM:261650
Riboflavin Deficiency
Dicarboxylic aciduria, Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Anterior hypopituitarism, Bilate... ORPHA:1435
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fumarate conc... OMIM:615160
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria OMIM:166300
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hemolytic-uremic syndrome, Elevated circulating C-reactive protein concentrat... OMIM:619644
Muckle-Wells Syndrome
Renal amyloidosis, Elevated circulating C-reactive protein concentration, Renal insufficiency OMIM:191900
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Chron... OMIM:248190
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephroblastoma, Renal insufficiency, Focal segme... ORPHA:347
Aapoaiv Amyloidosis
Glomerular sclerosis, Elevated circulating creatinine concentration, Hyperlipidemia, Proteinuria,... ORPHA:439232
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Hypercholesterolemia, Hypoplasia of penis, Diabetes mellitus, T... ORPHA:181393
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Abnormality of circulating enzyme level, Dysuria, D... ORPHA:93598
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level OMIM:613677
Otosclerosis 10
Otosclerosis OMIM:615589
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Cystinosis
Hypokalemia, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Nephropathy, Renal insufficie... ORPHA:213
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Recurrent hypoglycemia, Blue urine, Hyperphosphatemia, Increased... ORPHA:94086
Laurence-Moon Syndrome
Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency ORPHA:2377
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Polyuria, Rena... OMIM:607364
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency, Death... OMIM:614922
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polyuria, Megacystis OMIM:125800
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Polyuria, Megacystis OMIM:304800
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency, Impaired renal concentrating ability OMIM:204690
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Renal insuf... ORPHA:223
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Absence of... OMIM:263200
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Hyperp... ORPHA:423
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Highly elevated creatine kinase, Chronic kidney disease, Elevated circulatin... ORPHA:368
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal death, Hyperala... OMIM:619003
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hypoglycemia, Decreased plasma total carnitine, Elevated circulating creatinine ... OMIM:608836
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Cystinuria, Nephrolithiasis ORPHA:163693
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pyelonephritis, Patent ductus arteriosus, Renal cortical hyperechogenicity, Anuria, Megacystis, F... OMIM:619351
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Acute kidney injury, Elevated creatine kinase after exercise, Chronic kidney disea... ORPHA:284426
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Hypercalciuria, Bicarbonatur... ORPHA:3337
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hypoglycemia, Increased serum pyruvate OMIM:614741
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Dentinogenesis imperfecta, Wormian bones, Hearing impairment OMIM:166220
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Renal insufficiency ORPHA:79312
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia, Increased lev... OMIM:246450
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst OMIM:228940
Rhyns Syndrome
Nephronophthisis, Chronic kidney disease, Renal insufficiency OMIM:602152
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Nephroblastoma, Nephropathy, Renal insufficiency OMIM:194072
Prune Belly Syndrome
Abnormality of the ureter, Patent ductus arteriosus, Renal insufficiency, Multicystic kidney dysp... ORPHA:2970
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Enuresis, Polyuria, Renal salt wasting, Renal sod... OMIM:612780
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Renal insufficiency ORPHA:27
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Elevated circulating creatinine concentration, Decreased circulating apolipop... ORPHA:85450
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Thickened glomerular basement membrane, Abnormal renal physiology, Nephro... OMIM:308940
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Renal insufficiency ORPHA:1563
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Hypertriglyceridemia, H... OMIM:617575
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Myoglobinuria, Renal insufficiency ORPHA:713
Nephropathy, Deafness, And Hyperparathyroidism
Nephropathy, Renal insufficiency OMIM:256120
Neuroleptic Malignant Syndrome
Hypernatremia, Hyponatremia, Acute kidney injury, Proteinuria, Hyperkalemia, Hypocalcemia, Myoglo... ORPHA:94093
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Acute kidney injury, Proteinuria, Decreased serum iron, Incre... ORPHA:447
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Ketonuria, Postprandial hyperglycemia ORPHA:2089
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Hyperprolinemia, Prolinuria, Hydroxyprolinuria... ORPHA:79101
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Acute kidney injury, Protein... ORPHA:93126
Transcobalamin Deficiency
Methylmalonic aciduria, Acute kidney injury ORPHA:859
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Hypoglycemia, Hyperalaninemia, Hyperammonemia OMIM:615751
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyponatremia, Hyperkalemia, Elevated circulating creatine kinase concentration, Deat... ORPHA:682
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Decreased renal tubular phosphate excretion, Increased renal tubular phosphate ... OMIM:211900
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Proximal renal tubular acidosis, Hyperalaninemia, Hypoglycemia OMIM:266150
Acute Adrenal Insufficiency
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Hype... ORPHA:95409
Relapsing Fever
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Elevated circulati... ORPHA:91547
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Osteogenesis Imperfecta, Type I
Otosclerosis, Dentinogenesis imperfecta, Wormian bones, Hearing impairment OMIM:166200
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:618348
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Nephritis OMIM:609057
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... ORPHA:228308
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Mild proteinuria, Increased serum pyruvate, Hypospadias, Death in childhood, Renal insufficiency,... OMIM:619147
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pr... OMIM:619609
Pseudo-Torch Syndrome 3
Acute kidney injury, Death in infancy, Increased circulating ferritin concentration, Proteinuria OMIM:618886
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypercalciuria, Polyuria, Hyperphosphaturia, Aminoaciduria, Calcinosis, Hypophosph... OMIM:239200
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
East Syndrome
Hypokalemia, Increased circulating renin level, Enuresis, Renal salt wasting, Renal sodium wastin... ORPHA:199343
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Renal insufficiency, Proteinuria ORPHA:90321
Pyruvate Dehydrogenase E3 Deficiency
Elevated plasma branched chain amino acids, Increased urine alpha-ketoglutarate concentration, Hy... ORPHA:2394
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Distal renal tubular acidosis, Chro... OMIM:146255
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Atresia Of Urethra
Dilatation of the bladder, Hydronephrosis, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Tubulointerstitial nephritis, Methylmalonic acidemia, Hyperglycinemia, St... OMIM:251000
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis OMIM:616629
Mody
Glycosuria, Renal cyst, Neonatal hypoglycemia, Abnormality of the kidney, Insulin-resistant diabe... ORPHA:552
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia ORPHA:280062
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
Bardet-Biedl Syndrome 17
Micropenis, Stage 5 chronic kidney disease, Polyuria, Renal cyst OMIM:615994
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting, Recurrent urinary tract infections, Hypernatriuria ORPHA:361
Babesiosis
Renal insufficiency ORPHA:108
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Mirage Syndrome
Hyponatremia, Patent ductus arteriosus, Hyperkalemia, Recurrent urinary tract infections, Microph... OMIM:617053
Teratoma, Pineal
Polyuria OMIM:273120
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Hypochloremia, Hyposthenuria, Hypercalciuria, Increased circulatin... OMIM:601678
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Hypospadias, Renal insufficiency OMIM:611209
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Complement Factor I Deficiency
Glomerulonephritis, Pyelonephritis, Recurrent urinary tract infections, Renal insufficiency OMIM:610984
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Acute kidney injury, Hypercalciuria, ... ORPHA:89938
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Penoscrotal hy... ORPHA:90791
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fancon... OMIM:276700
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia OMIM:618253
Hereditary Fructose Intolerance
Chronic kidney disease, Hyperuricemia, Renal insufficiency, Hypermagnesemia, Hypophosphatemia ORPHA:469
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Homocystinuria, Hyperhomocystinemia, Methylmalonic aciduria, Hematuria, Hemolyt... OMIM:277400
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron, Abnormality of ... OMIM:231100
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency OMIM:247410
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Horseshoe kidney, Renal Fanconi syndrome, Acute kidney injury, Hyperuricemia, Mul... ORPHA:93111
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Elevated amniotic fluid alpha-fetoprotein, Miscarriage, Renal dysplasia, Renal insuffici... ORPHA:96179
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis, Ketonuria, Low plasma citrulline, R... OMIM:261680
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Renal insufficie... ORPHA:3027
Galactosemia
Hypergalactosemia, Increased level of galactitol in plasma, Renal insufficiency ORPHA:352
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Proteinuria, Bilateral renal agenesis, Ureteral agenes... ORPHA:411709
Yellow Fever
Elevated circulating creatinine concentration, Acute kidney injury, Anuria, Elevated circulating ... ORPHA:99829
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Hypoalbuminemia, Hyp... OMIM:618183
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal dysplasia, Hypoplasia of penis, Renal insufficiency ORPHA:85321
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Pineal cyst, Microtia, Micrognathia, Abnormality of the ankles, Cubitus v... ORPHA:529962
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Hypoglycemia, Hyperprolinemia, Increased serum... OMIM:619355
Wolcott-Rallison Syndrome
Hyponatremia, Chronic kidney disease, Hyperbilirubinemia, Hypoalbuminemia, Renal insufficiency, H... ORPHA:1667
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Chronic kidney disease, Macroscopic hematuria, Albuminuria, Microscopic hematuria... ORPHA:567546
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal cyst, Stage 5 chronic kidney disease, Renal dysplasia, Nephropathy, Nephronophthisis OMIM:266920
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Nephrolithiasis OMIM:615474
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Enuresis, Polyuria, Nocturia, Renal magnesium was... OMIM:263800
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Decreased urinary potassium,... ORPHA:79102
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypoglycemia, Hypospadias OMIM:201910
Wild Type Attr Amyloidosis
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:330001
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hypocalcemic seizures, Hydronephrosis, Hypocalcemia, Polycystic kidney... ORPHA:2237
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Membranous nephropathy... OMIM:615559
Goodpasture Syndrome
Glomerular crescent formation, Proteinuria, Increased blood urea nitrogen, Glomerulonephritis, Ma... OMIM:233450
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Glycogen Storage Disease Ic
Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hyperuricemia, Rena... OMIM:232240
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Hepatic peripo... OMIM:231680
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Bardet-Biedl Syndrome 9
Renal insufficiency OMIM:615986
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Enamel-Renal Syndrome
Nephrocalcinosis, Enuresis, Hypocalciuria, Nephropathy, Renal insufficiency, Impaired renal conce... ORPHA:1031
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Hypoglycemia, Acute hyperammonemia OMIM:210200
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bifid ureter, Decrea... OMIM:617641
Brachymesomelia-Renal Syndrome
Renal insufficiency OMIM:113470
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Cryoglobulinemic Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:91138
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... ORPHA:157
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Generalized Arterial Calcification Of Infancy
Cerebral calcification, Nephrocalcinosis, Cortical nephrocalcinosis, Stippled calcification of th... ORPHA:51608
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal blood ion co... ORPHA:411629
Cystinosis, Nephropathic
Glycosuria, Generalized aminoaciduria, Hypokalemia, Renal Fanconi syndrome, Nephrolithiasis, Hypo... OMIM:219800
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypokalemia, Hypocitraturia, Hyp... ORPHA:18
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hematuria, Renal insufficiency, Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:259900
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Membranoproliferative glomerulonephritis, Chronic kidney di... OMIM:137940
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Renal insufficiency ORPHA:33475
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:242900
Acute Intermittent Porphyria
Urinary retention, Hyponatremia, Dysuria, Increased urinary porphobilinogen, Dark urine, Renal in... ORPHA:79276
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Nephropathy, Stage 5 chronic kid... OMIM:194080
Molybdenum Cofactor Deficiency, Complementation Group C
Hypocystinemia, Increased urinary taurine, Hypouricemia, Neonatal death, Hypertaurinemia OMIM:615501
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Midshaft hypospadias, Renal salt w... ORPHA:168558
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Proteinuria, Micropenis, Thickened glomerular basement membrane, Recurrent ... OMIM:619487
Distal 17P13.1 Microdeletion Syndrome
Limitation of knee mobility, Microcephaly, Retrognathia, Protruding ear, Unilateral polymicrogyri... ORPHA:319171
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, In... ORPHA:99880
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Hypochloremia, Hyposthenuria, Hypercalciuria, Increased circulatin... OMIM:241200
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bica... ORPHA:47159
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Midshaft hypospadias, Renal salt w... ORPHA:289548
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Mercury Poisoning
Hypokalemia, Acute kidney injury ORPHA:330021
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Renal corticom... OMIM:613159
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galac... ORPHA:79237
Legionnaires Disease
Renal insufficiency, Hyponatremia, Hematuria, Proteinuria ORPHA:549
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Abnormal ureter morphology, Elevated circulating c... ORPHA:449395
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, In... ORPHA:143
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease OMIM:615630
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Snakebite Envenomation
Hyponatremia, Acute kidney injury ORPHA:449285
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Addison Disease
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Hype... ORPHA:85138
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Proteinuria, Chronic kidney disease, Conjugated hyperbilirubinemia, Nephritis, Renal ... OMIM:208500
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome