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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
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, 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, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndro... OMIM:600995
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Oligohydramnios, Absenc... OMIM:602088
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Ascites, Stage 5 chronic kidney disea... OMIM:603278
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Preeclampsia/Eclampsia 1
Proteinuria, Edema OMIM:189800
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Fa... ORPHA:567546
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Generalized edema, Stage 5 chronic kidney disease, Podocy... OMIM:619155
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement OMIM:617006
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Oligohydramnios, Renal insufficienc... OMIM:263200
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syn... OMIM:105200
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
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
Proteinuria, Nephrotic syndrome, Edema OMIM:614652
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic s... OMIM:608709
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Oligohydramnios, Renal insufficiency, Abnormal renal t... ORPHA:1909
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Death in infancy OMIM:609180
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity, Death in chil... OMIM:620425
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Oligohydramnios, Multiple renal cysts,... ORPHA:3033
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Neonatal death OMIM:614870
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:603860
Thomas Syndrome
Multicystic kidney dysplasia, Oligohydramnios, Renal hypoplasia/aplasia ORPHA:3316
Galactosemia I
Aminoaciduria, Galactosuria, Hepatomegaly, Increased level of galactitol in urine, Albuminuria OMIM:230400
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Multicystic kidney dysplasia, Oligohydramnios, Renal dysplasia ORPHA:3032
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Renal-Hepatic-Pancreatic Dysplasia 2
Oligohydramnios, Hepatic cysts, Stillbirth, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:615415
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Renal cyst OMIM:174050
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Nephronophthisis 15
Nephronophthisis OMIM:614845
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydronephrosis, Urethral atresia, Polyhydramnios, Enlarged kidney OMIM:314390
Meckel Syndrome, Type 11
Oligohydramnios, Polycystic kidney dysplasia OMIM:615397
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Mosaic Trisomy 1
Renal cortical cysts, Increased nuchal translucency, Penile hypospadias, Polyhydramnios, Renal cy... ORPHA:1692
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Oligohydr... ORPHA:1851
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Anasarca, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Polyhydramnios, Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Hepatomegaly, Splenomegaly OMIM:620010
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Oligohydramnios, Increased nuchal transl... OMIM:608022
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Nephronophthisis 19
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Splenomegaly, Renal int... OMIM:616217
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Dehydration, Neonatal death OMIM:602199
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Oligohydramnios, Splenomega... OMIM:208540
C Syndrome
Hepatomegaly, Renal cortical cysts OMIM:211750
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Al Amyloidosis
Xerostomia, Peripheral edema, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposi... ORPHA:85443
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Death in childhood, Proteinuria, Hep... OMIM:617303
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Death in childhood, Hydronephrosis, Hepatomegaly, Albuminuria, Hypospadias, Renal ... OMIM:214100
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria, Death in childhood OMIM:301108
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
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
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Death in infanc... OMIM:613404
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Anasarca, Renal insufficiency, Pleural effusion,... OMIM:254900
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Anti-Glomerular Basement Membrane Disease
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency ORPHA:375
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Tubular luminal dilata... OMIM:219730
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Hepatosplenomegaly, Membranoproliferative glomerulonephritis OMIM:619858
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Oligohydramnios, Renal insufficiency, Death in infancy, Hydronephrosis, Cardiome... OMIM:608836
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome, Hydrops fetalis ORPHA:834
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Neuraminidase Deficiency
Facial edema, Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-link... OMIM:256550
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Oligohydramnios, Abnormal renal corticomedullary differentiation, R... OMIM:616733
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Hypospadias, Renal dysplasia ORPHA:397715
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency ORPHA:54057
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ... OMIM:614376
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... OMIM:251300
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... OMIM:614922
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Hepatosplenomegaly, Splenomegaly, Death in infancy, Renal cyst, Death in adolescence... OMIM:614866
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... OMIM:616307
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Renal insufficiency, Splenomeg... OMIM:276700
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts ORPHA:2924
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Oligohydramnios, Neonatal death, Renal cyst, Stillbirth, Ren... OMIM:236500
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Joubert Syndrome 20
Renal cyst OMIM:614970
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death OMIM:300076
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Death in childhood, Proteinuria, Diffuse ... OMIM:609049
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Neonatal death OMIM:615228
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Preeclampsia
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Polycystic ovaries, Proteinuria... ORPHA:275555
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hepatomegaly OMIM:616026
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Joint swelling, Proteinuria, Gl... ORPHA:90291
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Acrocephalopolydactylous Dysplasia
Ascites, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Trichohepatoenteric Syndrome 1
Galactosuria, Splenomegaly, Hepatomegaly, Polyhydramnios, Hypospadias, Renal cortical microcysts OMIM:222470
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Multiple renal cysts, Pericardial effusion, P... ORPHA:464329
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome, Lymphedema ORPHA:69061
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency ORPHA:474
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Oligohydr... ORPHA:411709
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
Renal Hypodysplasia/Aplasia 1
Proteinuria, Oligohydramnios, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Cardiomegaly, Pericardial... OMIM:261740
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Hepatomegaly, Abnormality of the kidney ORPHA:369
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Lymphedema OMIM:211890
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Polyhydramnios ORPHA:2774
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Death in infancy, Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal death, Nonimmune hydrops fetalis, Lacticaciduria OMIM:619003
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Proteinuria ORPHA:182050
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Renal insufficiency, Pleural effusion, Splenomegaly, Hematuria, Proteinuria,... ORPHA:36412
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... OMIM:607426
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... OMIM:266900
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Death in childhood, Renal cyst, Hepatomegaly, Edema OMIM:602579
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
Campomelia, Cumming Type
Multicystic kidney dysplasia, Lymphedema, Pancreatic cysts, Oligohydramnios, Death in infancy, Mu... ORPHA:1318
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Pleural effusion, Pulmonary edema, Proteinuria, Hepatomegaly, N... ORPHA:330001
Axial Osteomalacia
Renal cyst OMIM:109130
Hyperparathyroidism, Transient Neonatal
Polyhydramnios, Unilateral renal agenesis, Enlarged kidney, Ovarian cyst OMIM:618188
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Death in infancy OMIM:614862
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Meacham Syndrome
Horseshoe kidney, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Enlarged kidney OMIM:608978
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav... ORPHA:505248
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria, Dehydration ORPHA:213
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Recurrent urinary tract infections, Ascites, Hyperechogen... OMIM:619487
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Cardiomegaly, Death in infancy OMIM:618886
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Oli... OMIM:208085
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
H Syndrome
Upper eyelid edema, Hepatosplenomegaly, Azoospermia, Abnormality of the kidney, Micropenis, Enlar... ORPHA:168569
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Ascites, Dark urine, Renal insufficiency, Pleural e... ORPHA:93552
Cryoglobulinemic Vasculitis
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy, Hepatomegaly ORPHA:91138
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Hepatomegaly, Myoglobinuria, Renal tubular epith... ORPHA:157
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Endocrine-Cerebroosteodysplasia
Microphallus, Hyperechogenic kidneys, Polyhydramnios, Hypospadias, Enlarged kidney OMIM:612651
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Enlarged kidney, Nephroblastoma ORPHA:276280
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Majeed Syndrome
Splenomegaly, Proteinuria, Glomerulopathy, Hepatomegaly, Microscopic hematuria, Edema ORPHA:77297
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria, Macular edema, Edema OMIM:192315
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Polyhydramnios, Hypospadias OMIM:619334
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Polyhydramnios, Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly OMIM:618541
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Ascites, Hepatosplenomegaly, R... ORPHA:731
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly OMIM:615630
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, He... ORPHA:85450
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Recurrent urinary tract infections, Renal duplication, Prote... ORPHA:33001
Fabry Disease
Lipiduria, Lymphedema, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Urinary mu... OMIM:301500
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia, Death in infancy OMIM:184260
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Death in childhood, Prot... OMIM:220110
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting OMIM:613845
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepatomegaly, Myoglobi... ORPHA:228308
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency OMIM:602152
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Oligohydramnios, Hydroureter, Fetal megacystis OMIM:249210
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria, Hepatomegaly OMIM:614034
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Polycystic ovarie... ORPHA:79259
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Death in childhood, Death in infancy, Nonimmune hydrops fetalis, Proteinuri... OMIM:212065
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Lymphatic Filariasis
Urethral obstruction, Predominantly lower limb lymphedema, Lymphedema, Hematuria, Proteinuria, Gl... ORPHA:2035
Alg9-Cdg
Hypoplasia of the bladder, Oligohydramnios, Abnormal renal artery morphology, Hepatic cysts, Hydr... ORPHA:79328
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Neonatal death, Hydronephrosis, Polyhydramnios, Fetal megacystis OMIM:619362
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Oligohydramnios, Displacem... ORPHA:2973
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Death in childhood, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Palpebral ed... OMIM:252500
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria, Death in infancy, Neonatal death OMIM:620300
Papa Syndrome
Proteinuria ORPHA:69126
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Polyhydramnios, Edema OMIM:607598
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Macular edema, Glomerular sclerosis ORPHA:247691
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Pseudo-Torch Syndrome 2
Ascites, Hepatomegaly, Abnormal renal corticomedullary differentiation, Pleural effusion OMIM:617397
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... ORPHA:1830
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Oligohydramnios, Renal insufficiency, Renal hypoplasia... ORPHA:261265
Hellp Syndrome
Generalized edema, Acute kidney injury, Pleural effusion, Proteinuria, Pulmonary edema, Hemoglobi... ORPHA:244242
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Oligohydramnios, Renal hypoplasia/a... ORPHA:1834
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal medullary pyramid morphology ORPHA:79243
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Ascites, Renal cyst, Polycystic kidney dysplasia, Hydrops fetalis, Hypospadias OMIM:614091
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... ORPHA:116
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Death in infancy, Proteinuria, Renal cyst... OMIM:208500
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:242900
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Congenital Disorder Of Glycosylation, Type Il
Ascites, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Hydrops fetalis, Pericardial ef... OMIM:608776
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology OMIM:274150
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Hepatomegaly, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Death in infancy, Polyhydramnios ORPHA:2241
Bardet-Biedl Syndrome 17
Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria OMIM:615994
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Simple Cryoglobulinemia
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Membranoproliferative gl... ORPHA:91139
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Renal cyst, Hyperoxaluria OMIM:601539
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Splenomegaly, Membranoproliferative glomerulonephritis, Hepatomegaly, Micro... OMIM:619525
Xfe Progeroid Syndrome
Proteinuria, Death in adolescence, Renal insufficiency, Ascites OMIM:610965
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria, Death in childhood OMIM:619147
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney disease, Oligohydramnios... OMIM:267010
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Leprechaunism
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney ORPHA:508
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria, Death in childhood OMIM:619685
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Oligohydramnios, Polycystic kidney dysplasia OMIM:263210
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome OMIM:301110
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, He... OMIM:232240
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Exercise-induced myoglobinuria, Death in infancy, Cardiomegaly, Hepatomegaly OMIM:201475
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Ohdo Syndrome
Proteinuria OMIM:249620
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Horseshoe kidney, Polyhydramnios, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:306955
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Agel Amyloidosis
Xerostomia, Stage 5 chronic kidney disease, Blepharochalasis, Proteinuria, Edema ORPHA:85448
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Ogden Syndrome
Lymphedema, Oligohydramnios, Pulmonary edema, Cardiomegaly, Global glomerulosclerosis, Polycystic... OMIM:300855
Immunoglobulin A Vasculitis
Angioedema, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Edema ORPHA:761
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency, Generalized edema, Death in infancy OMIM:617478
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Hepatomegaly ORPHA:488618
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria, Dehydration OMIM:619377
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Xerostomia, Hematuria, Rena... ORPHA:95455
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... OMIM:219800
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myoglobinuria, Red-brown urine ORPHA:228305
Legionnaires Disease
Hematuria, Proteinuria, Renal insufficiency, Splenomegaly ORPHA:549
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Renal cyst, Dark urine ORPHA:79303
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Renal Nutcracker Syndrome
Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Mody
Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney ORPHA:552
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Trisomy 1Q
Multicystic kidney dysplasia, Increased nuchal translucency, Hydronephrosis, Polyhydramnios, Cong... ORPHA:261344
Nabais Sa-De Vries Syndrome, Type 2
Polyhydramnios, Multicystic kidney dysplasia OMIM:618829
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Radio-Renal Syndrome
Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Pleural effusion, Renal hypoplasia/apl... ORPHA:3015
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Death in childhood, Hepatomegaly, Palpebral edema, Polycystic kidney dysplasia OMIM:214110
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency ORPHA:556
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Ascites, Splenomegaly, Proteinuria, Nephrotic syndrome, Pedal edema ORPHA:342
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Trisomy 13
Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Multiple renal cy... ORPHA:3378
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Micropenis, Patent urachus, Pericardial effusion, Enlarged kidney OMIM:618280
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis ORPHA:183
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Hydrops fetalis OMIM:609015
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... OMIM:277400
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections OMIM:615873
Martin-Probst Syndrome
Proteinuria, Chordee, Renal insufficiency, Micropenis OMIM:300519
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Wilson Disease
Aminoaciduria, Glycosuria, Edema, Ascites, Hyperphosphaturia, Renal tubular dysfunction, Nephroli... OMIM:277900
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Wagro Syndrome
Proteinuria, Nephroblastoma OMIM:612469
Cystic Echinococcosis
Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy, Hepatomegaly ORPHA:400
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Adult-Onset Still Disease
Proteinuria, Hepatomegaly, Joint swelling, Splenomegaly ORPHA:829
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Lymphangioleiomyomatosis
Chylothorax, Abnormal urinary color, Lymphedema, Ascites, Hematuria, Renal angiomyolipoma, Multip... ORPHA:538
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio... ORPHA:470
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Edema, Hydronephrosis, Polycystic kidney dysplasia, Pedal edema OMIM:236700
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria ORPHA:1018
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Hepatomegaly, Polycystic kidney dys... ORPHA:26791
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... OMIM:122470
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Hepatomegaly, Splenomegaly OMIM:194380
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Gaucher Disease Type 3
Splenomegaly, Hematuria, Proteinuria, Hepatomegaly, Pericardial effusion, Hydrops fetalis ORPHA:77261
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Dehydration, Recurrent... ORPHA:79404
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys OMIM:620047
Pearson Syndrome
Glycosuria, Renal insufficiency, Splenomegaly, Proteinuria, Renal cyst, Corneal stromal edema, La... ORPHA:699
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Acquired Generalized Lipodystrophy
Proteinuria, Hepatomegaly, Polycystic ovaries ORPHA:79086
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Macular edema, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filt... ORPHA:91500
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Pulmonary edema, Glomerulonephritis, Tubulointerstit... ORPHA:90068
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, O... ORPHA:49
Spondyloenchondrodysplasia
Chronic kidney disease, Hematuria, Proteinuria ORPHA:1855
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Zellweger Syndrome
Multicystic kidney dysplasia, Death in infancy, Hydronephrosis, Hepatomegaly, Hypospadias ORPHA:912
Melas
Nephropathy, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy ORPHA:550
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Azoospermia, Renal insufficiency, Joint swel... ORPHA:534
Atelosteogenesis Type I
Polyhydramnios, Multiple renal cysts ORPHA:1190
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Pericardial effusion, Renal tubular acidosis, Prote... ORPHA:358
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Joubert Syndrome 14
Renal cyst OMIM:614424
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Oligohydramnios, Nephroblastoma, Renal cyst, Micropenis, Hypospadias OMIM:257300
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Right ventricular hypertrophy, Nephroblastoma, Splenomegaly, Hydrone... OMIM:312870
Fabry Disease
Nephropathy, Lymphedema, Renal insufficiency, Hematuria, Proteinuria, Left ventricular hypertroph... ORPHA:324
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Multicystic kidney dysplasia ORPHA:3301
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Splenomegaly OMIM:300908
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy, P... ORPHA:900
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Cockayne Syndrome Type 1
Proteinuria, Hepatomegaly, Renal insufficiency ORPHA:90321
Thauvin-Robinet-Faivre Syndrome
Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation, Renal dysplasia, Pedal edema OMIM:617107
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Renal tubular acidosis, Polycystic ovaries, Myoglobinuria, Hepatomegaly ORPHA:79240
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Orofaciodigital Syndrome I
Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia OMIM:311200
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of... ORPHA:261494
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduce... OMIM:266920
Neuroleptic Malignant Syndrome
Acute kidney injury, Proteinuria, Myoglobinuria, Urinary incontinence, Dehydration ORPHA:94093
Mosaic Trisomy 9
Horseshoe kidney, Oligohydramnios, Hydronephrosis, Multiple renal cysts, Polyhydramnios, Hypoplas... ORPHA:99776
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Bardet-Biedl Syndrome 20
Proteinuria, Micropenis OMIM:619471
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Proteus Syndrome
Long penis, Lymphedema, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney ORPHA:744
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Ascites, Splenomegaly, Neonatal death, Hepatomegaly, Cystic renal dysplasia, Po... OMIM:269860
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Alveolar Echinococcosis
Hepatic cysts, Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Pedal edema ORPHA:284
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Renal tubular acidosis, Polycystic ovaries, Myoglobinuria, Hepatomegaly ORPHA:264580
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Death in childhood, Proteinuria, Left ventricular hypertrophy... OMIM:619127
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts ORPHA:2750
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... OMIM:146510
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia OMIM:617260
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma OMIM:193300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Acute kidney injury, Anuria, Dehydration ORPHA:90038
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Splenomegaly, Renal cyst, Hepatomegaly, Pancreatic cysts, Polycystic kidney dysplasia OMIM:610199
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Oligohydramnios, Polyhydramnios, Hydronephrosis, Renal cy... ORPHA:464311
Meckel Syndrome 14
Oligohydramnios, Polycystic kidney dysplasia, Increased nuchal translucency OMIM:619879
Phelan-Mcdermid Syndrome
Lymphedema, Vesicoureteral reflux, Abnormality of the kidney, Palpebral edema, Polycystic kidney ... OMIM:606232
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Stillbirth OMIM:616300
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Polycystic ovaries, Proteinuria, Enlarged polycystic ovaries, Enlarged ova... ORPHA:2298
D-Bifunctional Protein Deficiency
Fetal ascites, Splenomegaly, Renal cyst, Hepatomegaly, Polyhydramnios OMIM:261515
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Acute kidney injury, Oliguria, Anuria, Edema, Decreased urine output, Nephroti... ORPHA:544482
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Polyhydramnios, Hypospadias ORPHA:2059
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Postinfectious Vasculitis
Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferative glomerulonephritis ORPHA:48435
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Hydrops fetalis, Polycystic kidney dysplasia, Polyhydramnios OMIM:616546
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Hepatomegaly ORPHA:1454
Caroli Disease
Ascites, Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly ORPHA:53035
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Von Hippel-Lindau Disease
Macular edema, Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma, ... ORPHA:892
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau... ORPHA:369837
Glycogen Storage Disease Xii
Hemoglobinuria, Hepatomegaly, Splenomegaly OMIM:611881
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Relapsing Polychondritis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:728
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Polyhydramnios ORPHA:261349
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Oligohydramnios, Hydronephrosis, Renal cyst, Micropenis, ... ORPHA:464306
Cockayne Syndrome B
Renal insufficiency, Splenomegaly, Death in childhood, Proteinuria, Hepatomegaly, Micropenis OMIM:133540
Cutis Marmorata Telangiectatica Congenita
Ascites, Multicystic kidney dysplasia, Displacement of the urethral meatus ORPHA:1556
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Splenomegaly, Proteinuria, Hepa... ORPHA:191
Histiocytoid Cardiomyopathy
Polycystic ovaries, Pulmonary edema, Renal cyst, Cardiomegaly, Hepatomegaly ORPHA:137675
Fryns Syndrome
Chylothorax, Renal agenesis, Hydronephrosis, Renal cyst, Stillbirth, Polyhydramnios, Ureteral dup... OMIM:229850
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Death in infancy ORPHA:1393
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Aymé-Gripp Syndrome
Proteinuria, Pericardial effusion ORPHA:1272
Joubert Syndrome 21
Renal cyst, Splenomegaly, Hyperechogenic kidneys OMIM:615636
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Renal... ORPHA:805
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena... ORPHA:2538
Cockayne Syndrome A
Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly, Micropenis OMIM:216400
Williams Syndrome
Death in early adulthood, Polycystic ovaries, Periorbital edema, Renal insufficiency, Renal dupli... ORPHA:904
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Oligohydramnios, Polycystic ki... OMIM:200980
Kawasaki Disease
Proteinuria, Sterile pyuria, Edema ORPHA:2331
Holoprosencephaly
Proteinuria, Hypoplasia of penis, Abnormality of the urinary system ORPHA:2162
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Gaucher Disease
Splenomegaly, Death in infancy, Hematuria, Proteinuria, Hepatomegaly, Hydrops fetalis ORPHA:355
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney, Polyhydramnios 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, Ascites, Increased nuchal translucency, Nephroblastoma, Polyhydramnios ORPHA:1052
Pagod Syndrome
Multicystic kidney dysplasia, Death in infancy, Renal hypoplasia/aplasia ORPHA:991
Cranioectodermal Dysplasia 2
Renal insufficiency, Splenomegaly, Renal cyst, Hepatomegaly, Left ventricular hypertrophy, Polyhy... OMIM:613610
Focal Dermal Hypoplasia
Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:2092
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Splenomegaly, Nephroblastoma, Death in infancy, Hydron... ORPHA:373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Hydromyelia, Micropenis OMIM:615287
Syndromic Diarrhea
Hepatomegaly, Renal hypoplasia, Polycystic kidney dysplasia, Splenomegaly ORPHA:84064
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Vesicoureteral reflux, Hypospadias OMIM:616975
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Crimean-Congo Hemorrhagic Fever
Ascites, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly, Pericardial effusion ORPHA:99827
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Ureter... OMIM:270400
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Death in infancy, Renal hypoplasia/aplasia, Polyh... ORPHA:1308
Meckel Syndrome
Multicystic kidney dysplasia, Oligohydramnios, Urethral atresia, Ureteral duplication, Pancreatic... ORPHA:564
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki... ORPHA:2044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Multicystic kidney dysplasia, Oligohydramnios OMIM:300373
Caroli Syndrome
Hepatomegaly, Polycystic kidney dysplasia, Abnormality of the kidney ORPHA:480520
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Oligohydramnios, Death in childhood, Death in infancy, Renal cyst, Stillbirth, ... OMIM:210710
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, ... ORPHA:96149
Roberts Syndrome
Polyhydramnios, Long penis, Polycystic kidney dysplasia ORPHA:3103
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Hydrops fetalis, Urethrovagina... ORPHA:93271
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias ORPHA:495875
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis, Death in infancy ORPHA:1507
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Increased nuchal translucency, Ure... ORPHA:818
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Schinzel-Giedion Syndrome
Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cyst, Micropeni... ORPHA:798
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Hydromyelia, Renal agenesis, Oligohydram... OMIM:308205
Distal Deletion 15Q
Micropenis, Abnormal localization of kidney, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Oligohydramnios, Splenomega... OMIM:249000
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Death in infancy ORPHA:2308
Hajdu-Cheney Syndrome
Hepatomegaly, Multiple renal cysts, Hypospadias, Splenomegaly ORPHA:955
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
22Q11.2 Deletion Syndrome
Renal hypoplasia, Vesicoureteral reflux, Splenomegaly, Multiple renal cysts, Polyhydramnios, Poly... ORPHA:567
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Oligohydramnios, Polycystic kidney dysplasia ORPHA:3404
1P36 Deletion Syndrome
Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of penis, Hypospadias ORPHA:1606
Pmm2-Cdg
Anasarca, Lymphedema, Proteinuria, Abnormal renal tubule morphology, Multiple renal cysts, Perica... ORPHA:79318
Bardet-Biedl Syndrome
Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Polycystic ovaries, Hydronephros... ORPHA:110
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Oligo... ORPHA:3310
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Polyhy... ORPHA:709
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth... OMIM:107480
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Polyhydramnios OMIM:606170
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Increased nuchal translucency, Vesicoureteral reflux, Renal insuffi... ORPHA:199
Femoral-Facial Syndrome
Micropenis, Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis OMIM:134780
Roberts-Sc Phocomelia Syndrome
Long penis, Horseshoe kidney, Stillbirth, Polyhydramnios, Polycystic kidney dysplasia, Hypospadias OMIM:268300
Branchiooculofacial Syndrome
Renal cyst, Hypospadias, Renal agenesis OMIM:113620
Pallister-Killian Syndrome
Polyhydramnios, Renal cyst, Stillbirth, Edema of the dorsum of feet, Hypospadias, Renal dysplasia OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureteral reflux, R... 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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