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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
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... OMIM:256300
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria 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
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... OMIM:615244
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidne... OMIM:615573
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Edema OMIM:614652
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidne... OMIM:600995
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:614196
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Edema, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Dehydration, Neona... OMIM:263200
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... OMIM:256300
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... ORPHA:567548
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Preeclampsia/Eclampsia 1
Proteinuria, Edema OMIM:189800
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:618348
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Generalized aminoaciduria, Polycy... OMIM:231680
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Facial edema, Macroscopic hematuria, Palpebral edema, Focal segmental glo... ORPHA:567546
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Polycystic ... OMIM:608709
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Pedal edema, Renal insufficiency, P... ORPHA:84090
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Acute kid... ORPHA:567544
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney, Oligohydramnios, Stillbirth OMIM:615415
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Edema OMIM:105200
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Edema, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Hydrops fetalis, Ren... ORPHA:1909
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Polyhydramnios, Proximal tubulopathy, ... ORPHA:3033
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Galactosemia I
Increased level of galactitol in urine, Hepatomegaly, Aminoaciduria, Galactosuria, Albuminuria OMIM:230400
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease OMIM:619603
Thomas Syndrome
Oligohydramnios, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Denys-Drash Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... OMIM:194080
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:220
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Ascites OMIM:174050
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... OMIM:615862
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Palpebral edema, Renal cyst, Renal cortical micro... OMIM:614866
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... OMIM:300555
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Meckel Syndrome, Type 11
Oligohydramnios, Polycystic kidney dysplasia OMIM:615397
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Harrod Syndrome
Renal cortical microcysts, Hypospadias OMIM:601095
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Nephronophthisis 15
Nephronophthisis OMIM:614845
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney ORPHA:251004
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Neonatal death OMIM:228940
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Polyhydramnios, Renal cyst, Increased nucha... ORPHA:1692
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617729
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Reduced renal corticomedullary differ... OMIM:610188
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Stage 5 chronic kidney... OMIM:613390
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kidney, Focal segme... OMIM:232200
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Neonatal death, Hepatic cysts, Enlarged kidney, Renal dysplasia, Poly... OMIM:208540
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Death in childh... OMIM:617303
Diaphanospondylodysostosis
Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Nephroblastomatosis, Oligohydramnios, ... OMIM:608022
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Anasarca, Proteinuria OMIM:123550
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly OMIM:620010
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephroblastoma, Enla... OMIM:130650
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Myoglobinuria, Neonatal death OMIM:602199
C Syndrome
Renal cortical cysts, Hepatomegaly OMIM:211750
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Cardiomegaly, Tubulointerstitial nephritis, Renal cys... ORPHA:255249
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy OMIM:617056
Al Amyloidosis
Nephrotic syndrome, Hepatomegaly, Renal interstitial amyloid deposits, Abnormality of the kidney,... ORPHA:85443
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Polyhydramnios, Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Oligohydramnios... OMIM:236500
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Right ventricular hypertrophy, Nephropathy, ... OMIM:613404
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Aminoaciduria, Hypospadias, Death in childhood, Hydronephrosis, Renal cortical micr... OMIM:214100
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... ORPHA:449395
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Enlarged kidne... OMIM:232220
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Hepatomegaly, Ureteral duplication, Renal dysplasia, Enlarged k... OMIM:608836
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Acute kidney injury, Proteinuria, Polycystic o... ORPHA:275555
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Renal cyst, Stillbirth, Hepatic cysts OMIM:263630
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:203780
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Hydrops fetalis, Proteinuria, Ascites ORPHA:834
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Neuraminidase Deficiency
Facial edema, Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Hydro... OMIM:256550
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Oligohydramnios, R... OMIM:616733
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
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
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Acute kidney injury, Hematuria, Proteinuria ORPHA:54057
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephr... OMIM:614376
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Hypospadias, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, ... ORPHA:397715
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... OMIM:613550
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci... OMIM:134600
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, He... OMIM:616307
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... OMIM:613159
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:251300
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts ORPHA:2924
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Coach Syndrome 1
Hepatomegaly, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Renal cyst, Multiple sma... OMIM:216360
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... ORPHA:228302
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Acrocephalopolydactylous Dysplasia
Ascites, Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Systemic Sclerosis
Joint swelling, Chronic kidney disease, Abnormality of the kidney, Renal insufficiency, Proteinur... ORPHA:90291
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death OMIM:300076
Pierson Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Death in childhood, Hyperechogenic kidneys, Prot... OMIM:609049
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Renal Fa... OMIM:276700
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis OMIM:616026
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney, Pleura... ORPHA:464329
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Lcat Deficiency
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... ORPHA:650
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Neonatal death, Death in infancy OMIM:617184
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome, Lymphedema ORPHA:69061
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Renal cyst, Nephropathy, Hematuria OMIM:611773
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Anuria, Stage 5 chronic kidney disease, Hemolytic-ur... OMIM:612925
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:600740
Joubert Syndrome 20
Renal cyst OMIM:614970
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Vesicoureteral re... ORPHA:261222
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Hypospadias, Polyhydramnios, Galactosuria, Renal cortical microcysts OMIM:222470
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hepatosple... ORPHA:84081
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Wild Type Attr Amyloidosis
Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Nephropathy, Pedal edema, Renal insufficiency,... ORPHA:330001
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616629
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria OMIM:215250
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... OMIM:300009
Aapoaiv Amyloidosis
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... ORPHA:439232
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Hepatomegaly, Proteinuria ORPHA:369
Joubert Syndrome 7
Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... OMIM:146255
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Glycos... ORPHA:99885
Renal Hypodysplasia/Aplasia 1
Oligohydramnios, Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Lymphedema OMIM:211890
Joubert Syndrome 35
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612926
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612922
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Nephropathy, Proteinuria ORPHA:2774
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Hepatomegaly, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insuff... OMIM:614922
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Hepatomegaly, Death in infancy OMIM:614862
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria OMIM:615605
Verheij Syndrome
Renal agenesis, Renal cyst, Renal hypoplasia OMIM:615583
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal cyst, Renal neoplasm OMIM:135150
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Neonatal death OMIM:619003
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Meacham Syndrome
Death in childhood, Neonatal death, Enlarged kidney, Horseshoe kidney, Death in infancy, Stillbirth OMIM:608978
Myh9-Related Disease
Renal insufficiency, Nephropathy, Nephritis, Proteinuria ORPHA:182050
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Glo... OMIM:607426
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus OMIM:612651
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Death in childhood, Renal cyst, Edema, Proximal tubulopathy OMIM:602579
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Hematuria, Angioedema, Proteinuria, Renal insufficiency, Pleural effu... ORPHA:36412
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... OMIM:137920
Axial Osteomalacia
Renal cyst OMIM:109130
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Hydrops fetalis, Multiple renal cysts, Lymphedema, De... ORPHA:1318
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tra... OMIM:619487
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... ORPHA:505248
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedullary differentiation, Am... OMIM:208085
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Rhyns Syndrome
Chronic kidney disease, Renal insufficiency, Nephronophthisis OMIM:602152
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... ORPHA:93126
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... OMIM:308940
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Cystinosis
Renal tubular dysfunction, Aminoaciduria, Dehydration, Nephropathy, Proteinuria, Renal insufficiency ORPHA:213
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly, Death in infancy OMIM:618886
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Low-molecular-weight proteinuri... OMIM:300554
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epinephrine, Elevated urinary... ORPHA:276621
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Renal hypoplasia, Proteinuria ORPHA:1307
H Syndrome
Micropenis, Upper eyelid edema, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney ORPHA:168569
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia, Edema, Ascites, Pericardial effusion OMIM:608776
Pediatric Systemic Lupus Erythematosus
Dark urine, Nephrotic syndrome, Nephritis, Abnormality of the urinary system, Hematuria, Proteinu... ORPHA:93552
Cryoglobulinemic Vasculitis
Hepatomegaly, Splenomegaly, Hematuria, Proteinuria, Renal insufficiency, Glomerulopathy ORPHA:91138
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Renal salt wasting OMIM:613845
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... ORPHA:731
Arthrogryposis Multiplex Congenita 6
Hypospadias, Death in childhood, Neonatal death, Polyhydramnios, Death in infancy OMIM:619334
Distal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Dehydration, Low-molecular-... ORPHA:18
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Edema, Macular edema, Hematuria, Proteinuria OMIM:192315
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Polyhydramnios, Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly OMIM:618541
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Fabry Disease
Left ventricular hypertrophy, Lymphedema, Renal insufficiency, Proteinuria, Lipiduria, Urinary mu... OMIM:301500
Majeed Syndrome
Hepatomegaly, Splenomegaly, Proteinuria, Edema, Glomerulopathy, Microscopic hematuria ORPHA:77297
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... OMIM:301050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly OMIM:615630
Prune Belly Syndrome
Urogenital sinus anomaly, Abnormality of the ureter, Recurrent urinary tract infections, Hydroure... ORPHA:2970
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Recurrent urinary tract infections, Renal duplication, Tubul... ORPHA:33001
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Hepatomegaly, Aminoaciduria, Death in childhood, Glycosuria, Renal Fan... OMIM:220110
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce... ORPHA:368
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephriti... ORPHA:157
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... ORPHA:85450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Hydronephrosis, Renal dysplasia, Micropenis OMIM:615287
Heme Oxygenase 1 Deficiency
Nephritis, Hepatomegaly, Hematuria, Proteinuria OMIM:614034
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Aminoaciduria OMIM:603585
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Hepatomegaly, Enlarged kidney, Tubulointerstitial fibrosis, Proteinuria, Polycys... ORPHA:79259
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Hepatomegaly, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Prote... ORPHA:436271
Alg9-Cdg
Ureteral hypoplasia, Hepatomegaly, Hydrops fetalis, Hypoplasia of the bladder, Hepatic cysts, Enl... ORPHA:79328
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Death in infancy, Nephronophthisis OMIM:184260
Arima Syndrome
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ... OMIM:243910
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Proximal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Hyperuricosuria, Dehydration, Glycosuria, Global proximal tubulop... ORPHA:47159
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Death in childhood, Palpebral edema, Enlarged kidney, Mucopolysacchar... OMIM:252500
Glycogen Storage Disease Iv
Hepatosplenomegaly, Hydrops fetalis, Tubulointerstitial fibrosis, Polyhydramnios, Edema, Ascites OMIM:232500
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hepatomegaly, Death in childhood, Nonimmune hydrops fetalis, Renal cyst, Prot... OMIM:212065
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis OMIM:300209
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Proteinuria, Elevated urinary epineph... ORPHA:29072
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Generalized edema, Hydroureter, Oligohydramnios OMIM:249210
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Abnormality of the urethra, Mult... ORPHA:2973
Lethal Congenital Contracture Syndrome 2
Edema, Polyhydramnios, Hydronephrosis OMIM:607598
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Neonatal death, Polyhydramnios, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... ORPHA:228308
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Polycystic... OMIM:613095
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Nephropathy, Proteinuria, Glomerular sclerosis ORPHA:247691
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Enlarged kidney, Renal malrotation ORPHA:500095
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Lymphatic Filariasis
Predominantly lower limb lymphedema, Nephrotic syndrome, Urethral obstruction, Abnormality of the... ORPHA:2035
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Dehydration, Glycosuria, Abnormal... ORPHA:411634
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine OMIM:171420
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation, Ascites, Hepatomegaly, Pleural effusion OMIM:617397
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2715
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Micros... ORPHA:1830
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Congenital megaureter, Splenomegaly, Nephroblastoma, Ureteral dupl... ORPHA:116
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Hydrops fetalis, Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Ascites OMIM:614091
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Renal cys... ORPHA:1834
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Hematuria, Pedal edema, Proteinuria, Ascites, Pericardial effusion ORPHA:77259
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5... OMIM:242900
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Death in infancy... OMIM:208500
Hellp Syndrome
Pulmonary edema, Hemoglobinuria, Acute kidney injury, Proteinuria, Pleural effusion, Generalized ... ORPHA:244242
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Mild proteinuria, Renal insufficiency, Death in childhood OMIM:619147
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Abnormality of the kidney, Membranopro... ORPHA:91139
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:86818
Glycogen Storage Disease Ic
Hepatomegaly, Decreased glomerular filtration rate, Hematuria, Focal segmental glomerulosclerosis... OMIM:232240
Bardet-Biedl Syndrome 17
Renal cyst, Polyuria, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Hepatomegaly, Glycosuria, Proteinuria ORPHA:263455
Thrombotic Thrombocytopenic Purpura, Hereditary
Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology OMIM:274150
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Multicystic kidney dysplasia, Polyhydramnios, Death in infancy, Megacystis ORPHA:2241
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria ORPHA:2728
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Hepatomegaly OMIM:607361
Leprechaunism
Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Nephrocalcinosis ORPHA:508
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Meningocele ORPHA:2031
Alagille Syndrome 1
Renal tubular acidosis, Renal dysplasia, Focal segmental glomerulosclerosis, Duplicated collectin... OMIM:118450
Joubert Syndrome 14
Renal cyst OMIM:614424
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Ureterocele, Multicystic kidney dysplasia, Renal insufficiency, Oligohy... ORPHA:261265
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Hepatosplenomegaly, Multicystic kidney dysplasia, Multiple glomeru... OMIM:267010
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Meckel Syndrome, Type 2
Renal cyst, Meningocele OMIM:603194
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Moderate albuminuria, Micro... OMIM:619525
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Renal insufficiency, Proteinuria,... OMIM:277400
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Xfe Progeroid Syndrome
Renal insufficiency, Ascites, Death in adolescence, Proteinuria OMIM:610965
Ohdo Syndrome
Proteinuria OMIM:249620
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Oliguria, Acute kidney injury, Renal insufficiency, Exercise... ORPHA:99845
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Death in infancy, Exercise-induced myoglobinuria, Cardiomegaly OMIM:201475
Pheochromocytoma
Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis OMIM:171300
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Death in childhood, Mild proteinuria OMIM:619685
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
Transketolase Deficiency
Renal cyst, Hepatomegaly, Increased level of ribose in urine ORPHA:488618
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria OMIM:615398
Galloway-Mowat Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Oligohydramnios, Polycystic kidney dysplasia OMIM:263210
Ogden Syndrome
Global glomerulosclerosis, Pulmonary edema, Enlarged kidney, Polycystic kidney dysplasia, Lymphed... OMIM:300855
Familial Mediterranean Fever
Nephrotic syndrome, Splenomegaly, Nephropathy, Pedal edema, Proteinuria, Ascites, Nephrocalcinosis ORPHA:342
Structural Heart Defects And Renal Anomalies Syndrome
Generalized edema, Renal cyst, Renal insufficiency, Death in infancy OMIM:617478
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hepatomegaly, Hyperoxaluria OMIM:601539
Agel Amyloidosis
Xerostomia, Proteinuria, Edema, Blepharochalasis, Stage 5 chronic kidney disease ORPHA:85448
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Hepatomegaly, Aminoaciduria, Splenomegaly, Glycosuria... OMIM:277900
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria OMIM:232800
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Immunoglobulin A Vasculitis
Hematuria, Angioedema, Proteinuria, Edema, Renal insufficiency, Glomerulopathy ORPHA:761
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Hepatomegaly, Renal agenesis, Enlarged kidney, Polyhydramnios, Horseshoe kidney... OMIM:306955
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Aminoaciduria, Dehydration, Glycosuria, Low-molecular-weight proteinur... ORPHA:411629
Cystinosis, Nephropathic
Nephrolithiasis, Medullary nephrocalcinosis, Hepatomegaly, Aminoaciduria, Splenomegaly, Polyuria,... OMIM:219800
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis OMIM:161200
Meckel Syndrome, Type 4
Renal cyst, Meningocele OMIM:611134
Osteootohepatoenteric Syndrome
Dehydration, Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Legionnaires Disease
Renal insufficiency, Hematuria, Proteinuria, Splenomegaly ORPHA:549
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Hepatomegaly, Red-brown urine ORPHA:228305
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst, Hepatomegaly ORPHA:79303
Renal Nutcracker Syndrome
Microscopic hematuria, Hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydrops fetalis, Polyhydramnios, Hydronephro... ORPHA:261344
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Chylothorax, Renal agenesis, Multicystic kidney dysplasia, Renal dyspla... ORPHA:3015
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Aminoaciduria, Death in childhood, Palpebral edema, Polycystic kidney dysplasia OMIM:214110
Bardet-Biedl Syndrome
Nephrotic syndrome, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:110
Nabais Sa-De Vries Syndrome, Type 2
Polyhydramnios, Multicystic kidney dysplasia OMIM:618829
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormality of medullary pyramid morphology ORPHA:79243
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Abnormal penis morphology, Xerostomia, Hematuria, Moderate albuminuria, Acute kidney inj... ORPHA:95455
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Trisomy 13
Abnormality of the ureter, Hydrops fetalis, Multiple renal cysts, Hydronephrosis, Displacement of... ORPHA:3378
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hypernatriuria, Poly... OMIM:613090
Malakoplakia
Dysuria, Urinary urgency, Hematuria, Urinary hesitancy, Proteinuria, Urinary bladder inflammation ORPHA:556
Cardiac Valvular Dysplasia 1
Hydroureter, Hydrops fetalis, Urethral diverticulum, Edema, Hydronephrosis OMIM:212093
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Tubulointerstitial nephritis, Proteinuria, Renal insufficiency, Glomerulopathy ORPHA:183
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pulmonary edema, Decreased glomerular filtration rate, Glomerulonephritis... ORPHA:340
Martin-Probst Syndrome
Renal insufficiency, Chordee, Proteinuria, Micropenis OMIM:300519
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Hepatic cysts... ORPHA:1505
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria, Hydrops fetalis OMIM:609015
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Horseshoe kidney, Hepatic cysts OMIM:612284
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... OMIM:614748
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Melkersson-Rosenthal Syndrome
Periorbital edema, Oligosacchariduria, Edema ORPHA:2483
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Cardiac-Urogenital Syndrome
Micropenis, Enlarged kidney, Penoscrotal hypospadias, Patent urachus, Pericardial effusion OMIM:618280
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Gaucher Disease Type 3
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hematuria, Proteinuria, Pericardial effusion ORPHA:77261
Cystic Echinococcosis
Hepatomegaly, Ovarian cyst, Membranous nephropathy, Hepatic cysts, Renal cyst ORPHA:400
Vacterl/Vater Association
Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality of the urethra, Multicystic kidney ... ORPHA:887
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Pedal edema, Hydronephrosis, Edema OMIM:236700
Microcephaly 29, Primary, Autosomal Recessive
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation OMIM:620047
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Hepatomegaly, Splenomegaly OMIM:194380
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... OMIM:113650
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, Renal agenesis OMIM:220500
Joubert Syndrome 2
Renal cyst, Renal insufficiency, Nephronophthisis OMIM:608091
Lysinuric Protein Intolerance
Argininuria, Oroticaciduria, Hepatomegaly, Decreased glomerular filtration rate, Abnormal renal t... ORPHA:470
Cornelia De Lange Syndrome 1
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Renal cys... OMIM:122470
Lymphangioleiomyomatosis
Abnormal urinary color, Chylopericardium, Chylothorax, Renal neoplasm, Renal angiomyolipoma, Hema... ORPHA:538
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Chronic kidney disease, Nephropathy, Hematuria, Proteinuria, Stage 5 chronic kidney disease ORPHA:1018
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts ORPHA:2869
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria, Lacticac... ORPHA:26791
Pearson Syndrome
Hepatomegaly, Splenomegaly, Corneal stromal edema, Dehydration, Hydrops fetalis, Glycosuria, Rena... ORPHA:699
Cocaine Intoxication
Pulmonary edema, Hematuria, Tubulointerstitial nephritis, Acute kidney injury, Proteinuria, Glome... ORPHA:90068
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux, Microphallus OMIM:618454
Cranioectodermal Dysplasia 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:614099
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Oligohydramnios, Multicystic kidney dysplasia, Renal dysplasia OMIM:308205
Nail-Patella Syndrome
Nephrotic syndrome, Nephritis, Abnormality of the kidney, Hematuria, Thickened glomerular basemen... ORPHA:2614
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Acquired Generalized Lipodystrophy
Polycystic ovaries, Hepatomegaly, Proteinuria ORPHA:79086
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease