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Gene: Nphs1 MGI:1859637

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nephrosis 1, nephrin
Synonyms:
nephrin

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 Nphs1 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 Nphs1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839

The table below shows human diseases predicted to be associated to Nphs1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Focal Segmental Glomerulosclerosis 6
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... OMIM:614131
Nephrotic Syndrome, Type 9
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerula... OMIM:615573
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Nephrotic Syndrome, Type 2
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic... OMIM:600995
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 1
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pleural e... OMIM:603278
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephrotic Syndrome, Type 6
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... OMIM:614196
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... OMIM:615008
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Preeclampsia/Eclampsia 1
Proteinuria, Edema OMIM:189800
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... OMIM:617575
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Chronic kidney disease, ... ORPHA:567546
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... OMIM:263200
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Abnormal glome... ORPHA:84090
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Galloway-Mowat Syndrome 5
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r... OMIM:617731
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Edema OMIM:614652
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Edema, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Hydrops fetalis, Oligohydramnios, Nephropathy,... ORPHA:1909
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Renal cortical cysts OMIM:609180
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Renal Tubular Dysgenesis
Polyhydramnios, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis, ... ORPHA:3033
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Hepatomegaly, Renal cyst OMIM:614870
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Galactosemia I
Hepatomegaly, Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Thomas Syndrome
Multicystic kidney dysplasia, Oligohydramnios, Renal hypoplasia/aplasia ORPHA:3316
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Hepatic cysts, Oligohydramnios OMIM:615415
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Polyhydramnios, Oligohydramnios ORPHA:3032
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Renal cyst OMIM:174050
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Nephronophthisis 15
Nephronophthisis OMIM:614845
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Urethral atresia, Neonatal death, Hydronephrosis, Enlarged kidney OMIM:314390
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Oligohydramnios OMIM:615397
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Renal Hypoplasia, Bilateral
Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguri... ORPHA:97362
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Mosaic Trisomy 1
Polyhydramnios, Increased nuchal translucency, Renal cortical cysts, Renal cyst, Micropenis, Peni... ORPHA:1692
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Bardet-Biedl Syndrome 4
Cryptorchidism, Abnormality of the kidney, Renal cyst OMIM:615982
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysp... OMIM:613730
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonat... OMIM:613390
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Anasarca, Abnormal renal physiology OMIM:123550
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... OMIM:130650
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Proteinuria OMIM:620010
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Polyhydramnios, Renal cortical cysts OMIM:618548
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
C Syndrome
Cryptorchidism, Renal cortical cysts, Hepatomegaly OMIM:211750
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Diaphanospondylodysostosis
Nephrogenic rest, Increased nuchal translucency, Nephroblastomatosis, Horseshoe kidney, Cystic re... OMIM:608022
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Hepatic cysts, Pancreatic cysts, Splenomegaly, Stage 5 chronic... OMIM:208540
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephrono... OMIM:616217
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Cryptorchidism, Aminoaciduria, Albuminuria, Death in childhood, Renal ... OMIM:214100
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... ORPHA:347
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy... ORPHA:85443
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Hepatomegaly, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu... OMIM:613404
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries, Acute kidney ... ORPHA:275555
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Stillbirth, Hepatic cysts, Renal cyst OMIM:263630
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... OMIM:232220
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Polyhydramnios, Tubular luminal dilatation, Renal corticomedullary cysts, Hy... OMIM:219730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Hepatomegaly, Long-... OMIM:608836
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:375
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Splenomegaly, Hydrops fetalis, Nephrotic syndrome, Ascites ORPHA:834
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom... OMIM:254900
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly OMIM:619858
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu... OMIM:120330
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Facial... OMIM:256550
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... ORPHA:449395
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, O... OMIM:616733
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Hepatomegaly, Polyhydramnios, Renal hypoplasia, Renal cyst... OMIM:614922
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Renal dysplasia ORPHA:397715
Thrombotic Thrombocytopenic Purpura
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism ORPHA:1192
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Hepatomegaly, Hypospadias, Palpebral edema, Cryptorchidism, Splenomegaly, Renal... OMIM:614866
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia, Oli... OMIM:236500
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... OMIM:614376
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Joubert Syndrome 20
Renal cyst OMIM:614970
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts ORPHA:2924
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Coach Syndrome 1
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag... OMIM:216360
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Immunoneurologic Disorder, X-Linked
Neonatal death, Functional abnormality of the bladder OMIM:300076
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Systemic Sclerosis
Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Chronic kidney d... ORPHA:90291
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Dea... OMIM:609049
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Ascites, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, 3-Methylglutaconic aciduria OMIM:615228
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Polyhydramnios, Splenomegaly, Galactosuria, Renal cortical microcysts OMIM:222470
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Hepatosplenomegaly, Multiple renal cysts, P... ORPHA:464329
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome, Lymphedema ORPHA:69061
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Nephropathy, Ple... ORPHA:330001
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia, Oligohydramnios OMIM:191830
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Proteinuria, Abnormality of the kidney ORPHA:369
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Enlarg... OMIM:261740
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme... OMIM:146255
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Lymphedema OMIM:211890
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Dehydration, Renal tubular dysfunction, Glycos... ORPHA:99885
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Proteinuria, Hematuria, Tubulointerstitial nephritis, Death in childhood OMIM:616901
Mu-Heavy Chain Disease
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Hepatomegaly ORPHA:100024
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Polyhydramnios ORPHA:2774
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria OMIM:619003
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... OMIM:607426
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Edema, Renal cyst, Proximal tubulopathy, Death in childhood OMIM:602579
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Enlarged kidney, Polyhydramnios, Unilateral renal agenesis OMIM:618188
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Renal cyst, Hepatomegaly OMIM:614862
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Axial Osteomalacia
Renal cyst OMIM:109130
Campomelia, Cumming Type
Death in infancy, Multicystic kidney dysplasia, Hepatomegaly, Lymphedema, Pancreatic cysts, Hydro... ORPHA:1318
Meacham Syndrome
Death in infancy, Horseshoe kidney, Stillbirth, Death in childhood, Neonatal death, Enlarged kidney OMIM:608978
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Pericardial effusion, Splenomegal... ORPHA:36412
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Edema, Perica... OMIM:619487
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Cystinosis
Renal insufficiency, Proteinuria, Dehydration, Renal tubular dysfunction, Aminoaciduria, Nephropathy ORPHA:213
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, Renal salt was... OMIM:602522
Pseudo-Torch Syndrome 3
Death in infancy, Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Oligohydramnios, Dehydration, Nephrocalcinosis, Renal tubular acidosis, Aminoac... OMIM:208085
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
H Syndrome
Abnormality of the kidney, Hepatosplenomegaly, Upper eyelid edema, Azoospermia, Micropenis, Decre... ORPHA:168569
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Endocrine-Cerebroosteodysplasia
Hypospadias, Polyhydramnios, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Polycystic kidney dysplasia, Ascites OMIM:608776
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Hematuria ORPHA:91138
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Hematuria, Nephrotic s... ORPHA:93552
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am... ORPHA:85450
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Polyhydramnios, Splenomegaly OMIM:618541
Arthrogryposis Multiplex Congenita 6
Death in infancy, Hypospadias, Polyhydramnios, Death in childhood, Neonatal death OMIM:619334
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Splenomegaly, Stage 5 ... ORPHA:731
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria, Edema, Macular edema OMIM:192315
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Hepatomegaly, Chronic kidney disease, Nephronophthisis OMIM:615630
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Proteinuria, Edema, Splenomegaly, Microscopic hematuria ORPHA:77297
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:301050
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... ORPHA:157
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Fabry Disease
Renal insufficiency, Proteinuria, Lymphedema, Urinary mulberry cells, Left ventricular hypertroph... OMIM:301500
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Predominantly lower limb lymphed... ORPHA:33001
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Amin... OMIM:220110
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys OMIM:613845
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Odontochondrodysplasia 1
Death in infancy, Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Heme Oxygenase 1 Deficiency
Hematuria, Hepatomegaly, Nephritis, Proteinuria OMIM:614034
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Predominantly lower limb lymphedema, ... ORPHA:2035
Rhyns Syndrome
Renal insufficiency, Chronic kidney disease, Nephronophthisis OMIM:602152
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, N... ORPHA:79259
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Pericardial effusion... ORPHA:79328
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Hydroureter, Fetal megacystis, Oligohydramnios OMIM:249210
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney dis... OMIM:613095
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Hepatomegaly, Proteinuria, Nonimmune hydrops fetalis, Edema, Pericardial effusi... OMIM:212065
Glycogen Storage Disease Iv
Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Ascites, Tubulointerstitial fibrosis OMIM:232500
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Death in infancy, Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Palpebral edema, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Death in childh... OMIM:252500
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Hydronephrosis, Edema OMIM:607598
Papa Syndrome
Proteinuria ORPHA:69126
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria, Macular edema ORPHA:247691
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Pseudo-Torch Syndrome 2
Hepatomegaly, Pleural effusion, Ascites, Abnormal renal corticomedullary differentiation OMIM:617397
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Hellp Syndrome
Pulmonary edema, Proteinuria, Hemoglobinuria, Pleural effusion, Acute kidney injury, Generalized ... ORPHA:244242
Schimke Immuno-Osseous Dysplasia
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... ORPHA:1830
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Pericardial effusion, Splenomegaly, Pedal edema, Hematuria, Ascites ORPHA:77259
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Polyhydramnios, Cardiomegaly, Cryptorchidism, Splenomegaly, N... ORPHA:116
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal medullary pyramid morphology ORPHA:79243
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Polyhydramnios, Cryptorchidism, Mega... ORPHA:2241
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Nephr... OMIM:242900
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Hydrops fetalis, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Ascites OMIM:614091
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Ren... OMIM:208500
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Proteinuria, Multiple bladder diverticula ORPHA:2728
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Death in childhood, Mild proteinuria OMIM:619685
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology OMIM:274150
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Renal Fanconi syndrome, Proteinuria, Glycosuria ORPHA:263455
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Death in childhood, Renal insufficiency, Mild proteinuria OMIM:619147
Ohdo Syndrome
Cryptorchidism, Proteinuria OMIM:249620
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria, Splenomegaly, Mode... OMIM:619525
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria OMIM:201475
Xfe Progeroid Syndrome
Renal insufficiency, Ascites, Proteinuria, Death in adolescence OMIM:610965
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Polycystic kidney dysplasia, Oligohydramnios OMIM:263210
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Ogden Syndrome
Global glomerulosclerosis, Pulmonary edema, Cardiomegaly, Lymphedema, Cryptorchidism, Hydrocele t... OMIM:300855
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... ORPHA:1988
Familial Mediterranean Fever
Proteinuria, Orchitis, Splenomegaly, Pedal edema, Nephrocalcinosis, Nephrotic syndrome, Nephropat... ORPHA:342
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Polyhydramnios, Cardiomegaly, Horseshoe kidney, Enlarged kidney OMIM:306955
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Hepatomegaly ORPHA:488618
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, De... OMIM:232240
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Agel Amyloidosis
Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Blepharochalasis ORPHA:85448
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst, Hepatomegaly OMIM:601539
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Orchitis, Angioedema, Hematuria ORPHA:761
Wilson Disease
Hepatomegaly, Hyperphosphaturia, Proteinuria, Edema, Splenomegaly, Nephrolithiasis, Hypercalciuri... OMIM:277900
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Dehydration, Renal tubular dysfunction... ORPHA:411629
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Renal cyst, Generalized edema OMIM:617478
Cystinosis, Nephropathic
Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, Stage ... OMIM:219800
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Nephrotic syndrome, Multicystic kidney dysplasia ORPHA:110
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Cryptorchidism, Moderate albuminuria OMIM:614231
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myoglobinuria, Red-brown urine ORPHA:228305
Trisomy 1Q
Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Increased nuchal translucency, Hydr... ORPHA:261344
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Renal Nutcracker Syndrome
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Polyhydramnios OMIM:618829
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hepatomegaly, Renal cyst ORPHA:79303
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Dehydration OMIM:619377
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Chylothorax, Pleural effu... ORPHA:3015
Legionnaires Disease
Hematuria, Splenomegaly, Renal insufficiency, Proteinuria ORPHA:549
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Palpebral edema, Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia, Death ... OMIM:214110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Xerostomia, Renal tubular epithelial necrosis, Hematuria, Mod... ORPHA:95455
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Hydrops fetalis, Multiple renal cysts, Displacement of... ORPHA:3378
Malakoplakia
Proteinuria, Dysuria, Orchitis, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary... ORPHA:556
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Cardiac-Urogenital Syndrome
Unilateral cryptorchidism, Pericardial effusion, Cryptorchidism, Enlarged kidney, Patent urachus,... OMIM:618280
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Hydrops fetalis OMIM:609015
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Increased urinary potassium, Renal salt w... OMIM:613090
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Hepatomegaly OMIM:251900
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Micropenis OMIM:300519
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis ORPHA:183
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Wagro Syndrome
Nephroblastoma, Proteinuria, Decreased testicular size OMIM:612469
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Polyhydramnios, E... ORPHA:887
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, H... ORPHA:400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Mckusick-Kaufman Syndrome
Hydroureter, Edema, Cryptorchidism, Pedal edema, Polycystic kidney dysplasia, Vesicovaginal fistu... OMIM:236700
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Lysinuric Protein Intolerance
Hepatomegaly, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Hepatosplenomegaly, Tub... ORPHA:470
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... OMIM:122470
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Renal cyst, Horseshoe kidney ORPHA:166035
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria... ORPHA:26791
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Hemoglobinuria, Hepatomegaly OMIM:194380
Gaucher Disease Type 3
Hepatomegaly, Proteinuria, Pericardial effusion, Splenomegaly, Hydrops fetalis, Hematuria ORPHA:77261
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy ORPHA:1018
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Lymphedema, Chylopericardium, Hematuria, Multiple renal c... ORPHA:538
Genitopalatocardiac Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Pearson Syndrome
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lacticaciduria, Renal cyst, Hydrops... ORPHA:699
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys OMIM:620047
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po... ORPHA:314588
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... ORPHA:2614
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... ORPHA:93111
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury, Pu... ORPHA:90068
Zellweger Syndrome
Death in infancy, Multicystic kidney dysplasia, Hepatomegaly, Hypospadias, Cryptorchidism, Hydron... ORPHA:912
Acquired Generalized Lipodystrophy
Hepatomegaly, Proteinuria, Polycystic ovaries ORPHA:79086
Spondyloenchondrodysplasia
Hematuria, Chronic kidney disease, Proteinuria ORPHA:1855
Melas
Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis ORPHA:550
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Renal insufficiency, Glomerulopathy, Proteinuria, Cryptorchidism, Proximal rena... ORPHA:534
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Polyhydramnios ORPHA:3301
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Polyhydramnios, Cryptorchidism, Splenomegaly, Renal cyst, Duplication ... OMIM:312870
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial effusion, Tubulointer... ORPHA:358
Pallister-Hall Syndrome
Decreased testicular size, Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kid... OMIM:146510
Joubert Syndrome 14
Renal cyst OMIM:614424
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal cyst, Micropenis... OMIM:257300
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Lymphedema, Hematuria, Nephrotic syndrome, Left... ORPHA:324
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Hemoglobinuria OMIM:300908
Atelosteogenesis Type I
Multiple renal cysts, Polyhydramnios ORPHA:1190
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglob... ORPHA:91500
Cockayne Syndrome Type 1
Cryptorchidism, Renal insufficiency, Proteinuria, Hepatomegaly ORPHA:90321
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Polycystic ovaries, Renal tubular acidosis, Myoglobinuria ORPHA:79240
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Periorbital edema, Hematuria... ORPHA:900
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Micropenis, Proteinuria OMIM:619471
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Polyhydramnios, Cryptorchidism, Hydrops fetalis, Horseshoe ... ORPHA:99776
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral... ORPHA:261494
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc... ORPHA:99880
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Pedal edema, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Edema, Polyhydramnios, Splenomegaly, Renal hypoplasia, Neonatal death, Ascites, Cys... OMIM:269860
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Dehydration, Myoglobinuria, Acute kidney injury ORPHA:94093
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Hepatomegaly, Edema, Pancreatic cysts, Stage 5 chronic kidney disease, Rena... OMIM:266920
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc... ORPHA:143
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Polycystic ovaries, Renal tubular acidosis, Myoglobinuria ORPHA:264580
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Proteinuria, Focal segmental glomerulosclerosis, Death in childhood, Left ventricul... OMIM:619127
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland... ORPHA:2473
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... ORPHA:2237
Alveolar Echinococcosis
Pancreatic cysts, Renal cyst, Pedal edema, Abnormal bladder morphology, Hepatic cysts ORPHA:284
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Polyhydramnios, Cryptorchidism, Renal cyst, Micropenis, P... ORPHA:464311
Phelan-Mcdermid Syndrome
Palpebral edema, Abnormality of the kidney, Lymphedema, Polycystic kidney dysplasia, Vesicoureter... OMIM:606232
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney dysplasia OMIM:610199
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Stillbirth, Renal hypoplasia, Renal cyst OMIM:616300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Anuria, Acute kidney injury, Dehydration ORPHA:90038
Meckel Syndrome 14
Increased nuchal translucency, Polycystic kidney dysplasia, Oligohydramnios OMIM:619879
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Cryptorchidism, Vesicoureteral reflux,... ORPHA:2059
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Orchitis, Hematuria ORPHA:48435
D-Bifunctional Protein Deficiency
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Renal cyst OMIM:261515
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Polycystic ovaries, Glycosuria, Nephr... ORPHA:2298
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Genitopatellar Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Infection-Related Hemolytic Uremic Syndrome
Anuria, Edema, Oliguria, Pleural empyema, Acute kidney injury, Nephrotic range proteinuria, Decre... ORPHA:544482
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... ORPHA:447
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polyhydramnios, Hydrops fetalis, Polycystic kidney dysplasia OMIM:616546
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Nephropathy ORPHA:1454
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... ORPHA:369837
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Macular edema, Renal cell carcinoma, Mult... ORPHA:892
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Glycogen Storage Disease Xii
Splenomegaly, Hemoglobinuria, Hepatomegaly OMIM:611881
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Kawasaki Disease
Proteinuria, Sterile pyuria, Edema ORPHA:2331
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Hydronephrosis, Polyhydramnios ORPHA:261349
Relapsing Polychondritis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:728
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy... ORPHA:464306
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Polyhydramnios, Cryptorchidism, Renal cyst, St... OMIM:229850
Degcags Syndrome
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Polyhyd... OMIM:619488
Caroli Disease
Splenomegaly, Hepatomegaly, Ascites, Polycystic kidney dysplasia ORPHA:53035
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Death in childhood,... OMIM:133540
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites ORPHA:1556
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Pulmonary edema ORPHA:137675
Aymé-Gripp Syndrome
Pericardial effusion, Cryptorchidism, Proteinuria ORPHA:1272
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... ORPHA:191
Gaucher Disease
Death in infancy, Hepatomegaly, Proteinuria, Splenomegaly, Hydrops fetalis, Hematuria ORPHA:355
Cerebrocostomandibular Syndrome
Death in infancy, Multicystic kidney dysplasia ORPHA:1393
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Joubert Syndrome 21
Splenomegaly, Hyperechogenic kidneys, Renal cyst OMIM:615636
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Micropenis OMIM:216400
Acrorenal-Mandibular Syndrome
Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidney dysplasia, O... OMIM:200980
Holoprosencephaly
Cryptorchidism, Hypoplasia of penis, Abnormality of the urinary system, Proteinuria ORPHA:2162
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k... ORPHA:2538
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Periorbital edema, Abnormal tubulointerstitial morphology, Nep... ORPHA:904
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Pagod Syndrome
Death in infancy, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypoplasia/aplasia ORPHA:991
Cerebrocostomandibular Syndrome
Polyhydramnios, Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Hydrops fetalis, Polycystic kidney dysplasia OMIM:263520
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Increased nuchal translucency, Nephroblastoma, Ascites ORPHA:1052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Hydronephrosis, Hydromyelia, Micropenis, Decreased testicular size OMIM:615287
Hajdu-Cheney Syndrome
Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Polyhydramnios, Splenomegaly, Hydrops fetalis, Renal cyst, Lef... OMIM:613610
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Cryptorchidism, Hypospadias, Renal cyst OMIM:616975
C Syndrome
Death in infancy, Multicystic kidney dysplasia, Polyhydramnios, Renal hypoplasia/aplasia, Cryptor... ORPHA:1308
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Cryptorchidism, Urethral at... ORPHA:564
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Proteinuria, Orchitis, Splenomegaly, Pericardial effusion, Hematuria, Ascites ORPHA:99827
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Death in infancy, Duplicated collecting system, Hepatomegaly,... OMIM:270400
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn... ORPHA:2044
Syndromic Diarrhea
Splenomegaly, Hepatomegaly, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Proteinuria OMIM:616682
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dys... OMIM:210710
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Polyhydramnios, Oligohydramnios OMIM:300373
Distal Deletion 12Q
Unilateral cryptorchidism, Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic k... ORPHA:96149
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydrop... ORPHA:93271
Roberts Syndrome
Polyhydramnios, Cryptorchidism, Long penis, Polycystic kidney dysplasia ORPHA:3103
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age... OMIM:308205
Caroli Syndrome
Hepatomegaly, Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Hypospadias, Renal cyst ORPHA:495875
Autosomal Recessive Robinow Syndrome
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis ORPHA:1507
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Renal hypoplasia/... ORPHA:818
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Cryptorchidism, Splenomegaly, Abnormality of the urete... OMIM:249000
Schinzel-Giedion Syndrome
Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, ... ORPHA:798
Jacobsen Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis, Death in infancy ORPHA:2308
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro... ORPHA:1596
Robinow Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Webbed penis, Micropenis, Hydronephrosis ORPHA:97360
Hajdu-Cheney Syndrome
Splenomegaly, Hepatomegaly, Multiple renal cysts, Hypospadias ORPHA:955
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy... OMIM:134780
Ulbright-Hodes Syndrome
Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia, Oligohy... ORPHA:3404
Fraser Syndrome
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism,... ORPHA:2052
22Q11.2 Deletion Syndrome
Hypospadias, Polyhydramnios, Cryptorchidism, Splenomegaly, Renal hypoplasia, Multiple renal cysts... ORPHA:567
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... ORPHA:857
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hydronep... ORPHA:1606
Pmm2-Cdg
Proteinuria, Lymphedema, Pericardial effusion, Nephrotic syndrome, Anasarca, Multiple renal cysts... ORPHA:79318
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Horseshoe kidney, Oligozoosp... ORPHA:3310
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Cryptorchidism, R... OMIM:107480
Proteus Syndrome
Testicular neoplasm, Lymphedema, Enlarged polycystic ovaries, Splenomegaly, Long penis, Renal cys... ORPHA:744
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Renal hypoplasia... ORPHA:709
Genitopatellar Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Micropenis, Hydronephrosis OMIM:606170
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Cryptorchidi... ORPHA:199
Roberts-Sc Phocomelia Syndrome
Hypospadias, Polyhydramnios, Cryptorchidism, Long penis, Horseshoe kidney, Stillbirth, Polycystic... OMIM:268300
Branchiooculofacial Syndrome
Cryptorchidism, Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Pallister-Killian Syndrome
Edema of the dorsum of feet, Hypospadias, Polyhydramnios, Cryptorchidism, Renal cyst, Stillbirth,... OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Crypt... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis... ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nphs1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nphs1.

No publications found that use IMPC mice or data for Nphs1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nphs1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nphs1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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