Gene Summary

Name:
roundabout guidance receptor 2
Synonyms:
2600013A04Rik,  D230004I22Rik,  9430089E08Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
edema Robo2em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Robo2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal kidney morphology Robo2em1(IMPC)Mbp HET Early adult 0.00
hemorrhage Robo2em1(IMPC)Mbp HOM E15.5 0.00
enlarged kidney Robo2em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Robo2em1(IMPC)Mbp HOM E9.5 0.00

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Viewing: all phenotypes

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.

Gross Morphology Embryo E14.5-E15.5

Images

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

Gross Morphology Embryo E9.5

Images

4 Images

MicroCT E14.5-E15.5

Embryo reconstruction

11 Images

Human diseases caused by Robo2 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 Robo2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878

The table below shows human diseases predicted to be associated to Robo2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Lipedema
Edema OMIM:614103
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Ureterocele
Ureterocele, Duplicated collecting system OMIM:191650
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema, Pulmonary arterial hypertension OMIM:152900
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Neonatal death, Renal cyst OMIM:613390
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Joubert Syndrome 20
Renal cyst OMIM:614970
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal dysplasia OMIM:236500
Polysyndactyly With Cardiac Malformation
Stillbirth, Hepatic cysts, Renal cyst OMIM:263630
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Axial Osteomalacia
Renal cyst OMIM:109130
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasi... ORPHA:2842
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,... OMIM:617303
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death, Renal dysplasia... OMIM:614922
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Bladder Exstrophy
Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor... ORPHA:93930
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232200
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... OMIM:613095
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Silver-Russell Syndrome 1
Hypospadias, Abnormality of the ureter, Urethral valve, Congenital posterior urethral valve, Neph... OMIM:180860
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal... OMIM:208540
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Neonatal death, Fetal megacystis OMIM:619362
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Bladder Exstrophy And Epispadias Complex
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney OMIM:600057
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the bladder, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis ORPHA:2547
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... ORPHA:3027
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... OMIM:276700
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:200995
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts ORPHA:464329
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst OMIM:615994
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
17Q12 Microdeletion Syndrome
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency ORPHA:261265
H Syndrome
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis ORPHA:168569
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... OMIM:613550
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Heavy proteinuria, Urinary ... ORPHA:505248
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Trisomy 13
Hydronephrosis, Displacement of the urethral meatus, Multiple renal cysts, Abnormality of the ureter ORPHA:3378
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst ORPHA:445038
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro... ORPHA:79328
Hereditary Orotic Aciduria
Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter ORPHA:30
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly OMIM:252500
Amyloidosis, Finnish Type
Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis... OMIM:105120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr... ORPHA:79259
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Peutz-Jeghers Syndrome
Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter ORPHA:2869
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology ORPHA:1756
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:1770
Meckel Syndrome, Type 6
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst OMIM:612284
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Aneurysm Of Sinus Of Valsalva
Edema, Congestive heart failure, Aortic regurgitation, Heart murmur ORPHA:1054
Exstrophy-Epispadias Complex
Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen... ORPHA:322
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis ORPHA:261290
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... ORPHA:116
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflux... ORPHA:93929
Smith-Magenis Syndrome
Abnormal localization of kidney, Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:819
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ... ORPHA:261494
Mody
Glycosuria, Abnormality of the kidney, Nephropathy, Renal cyst ORPHA:552
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena... ORPHA:93111
Vacterl/Vater Association
Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis, Hydronephrosis, Multicystic kid... ORPHA:887
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Dilatatio... ORPHA:314588
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, T... ORPHA:157
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Trisomy 1Q
Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter ORPHA:261344
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph... OMIM:146510
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney OMIM:615873
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney OMIM:306955
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Ogden Syndrome
Cardiomegaly, Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis OMIM:300855
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Meckel Syndrome, Type 7
Pancreatic cysts, Stage 5 chronic kidney disease, Multicystic kidney dysplasia, Multiple glomerul... OMIM:267010
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:600740
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries ORPHA:508
Cystic Echinococcosis
Membranous nephropathy, Ovarian cyst, Hepatic cysts, Renal cyst ORPHA:400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... ORPHA:2237
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... ORPHA:79403
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Joubert Syndrome 14
Renal cyst OMIM:614424
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis OMIM:618460
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Nephroblastoma, Micropenis OMIM:257300
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst ORPHA:1692
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter ORPHA:2311
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Urethr... ORPHA:2473
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglutaric aciduria,... ORPHA:26791
Alagille Syndrome
Nephrotic syndrome, Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:52
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Red... ORPHA:84081
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Renal dysplasia, Abnormality... ORPHA:369837
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula OMIM:236700
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:99880
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency OMIM:208500
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Ureteral agenesis, Hyperechogenic kidneys OMIM:617914
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf... ORPHA:223
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst OMIM:212065
Toriello-Lacassie-Droste Syndrome
Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Abnormal penis mo... ORPHA:3339
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis, Abnormality of the ureter ORPHA:1225
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:143
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis OMIM:618454
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ... OMIM:122470
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts OMIM:193300
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis ORPHA:1926
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Renal hypoplasia, Renal cyst OMIM:616300
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1001
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren... ORPHA:158684
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464311
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polycystic kidney dysplasia, Renal cortical microcysts, Hypospadias, Renal cyst OMIM:614866
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Pancreatic cysts, Renal cyst OMIM:610199
Mosaic Trisomy 9
Hypoplasia of penis, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney ORPHA:99776
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus OMIM:618280
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:289
Fraser Syndrome 3
Stillbirth, Hypoplasia of penis, Bilateral renal agenesis, Ureteral agenesis, Hypoplasia of the b... OMIM:617667
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux ORPHA:2059
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal cyst, Reduced renal corticomed... OMIM:266920
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia OMIM:606232
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
Alveolar Echinococcosis
Hepatic cysts, Abnormal bladder morphology, Pancreatic cysts, Renal cyst ORPHA:284
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464306
Tuberous Sclerosis Complex
Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic... ORPHA:805
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Dextrocardia
Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Hypospadias OMIM:617516
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... OMIM:312870
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Tuberous Sclerosis 1
Renal cell carcinoma, Renal angiomyolipoma, Renal cyst OMIM:191100
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cell carcinoma, Renal angiomyolipoma, Re... OMIM:613254
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Fryns Syndrome
Stillbirth, Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis OMIM:229850
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Hydronephrosis, Congenital megaureter ORPHA:2437
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Noonan Syndrome 9
Hydroureter OMIM:616559
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Wolfram Syndrome 1
Neurogenic bladder, Hydronephrosis, Hydroureter OMIM:222300
Proteus Syndrome
Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly ORPHA:744
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Renal agenesis, Crossed fused renal ectopia, Renal dysplasia, Multicyst... ORPHA:2538
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Peutz-Jeghers Syndrome
Bladder polyp, Ovarian cyst, Abnormality of the ureter OMIM:175200
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Codas Syndrome
Hydroureter ORPHA:1458
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis ORPHA:2092
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Renal duplication, Hydronephrosis ORPHA:96169
Acrorenal-Mandibular Syndrome
Renal agenesis, Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter OMIM:200980
Familial Visceral Myopathy
Megacystis, Vesicoureteral reflux, Hydroureter ORPHA:2604
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Neonatal death, Cystic renal dysplasia OMIM:269860
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collecting system, Re... OMIM:270400
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Renal duplication OMIM:270420
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Renal dysplasia... OMIM:614080
Vici Syndrome
Ureteral atresia, Renal tubular acidosis ORPHA:1493
Hajdu-Cheney Syndrome
Polycystic kidney dysplasia, Hypospadias, Renal cyst OMIM:102500
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph... ORPHA:2044
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst OMIM:616975
Diphallia
Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Distal ure... ORPHA:227
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Schinzel-Giedion Syndrome
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephrosis, Nephroblasto... ORPHA:798
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Multiple renal cysts, Abnormal urinary color, Renal angiomyolipoma ORPHA:538
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Nephrolithiasis, Abnormality of the ureter ORPHA:800
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Renal agenesis, Rena... OMIM:617666
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis ORPHA:568
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Micropenis ORPHA:96149
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Hydronephrosis, Nephroblasto... ORPHA:373
Alagille Syndrome 1
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... OMIM:118450
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Pancreatic cysts OMIM:311200
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercalciuria, Nephrolithiasis, Nep... ORPHA:534
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Micropenis OMIM:616546
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Ureteropelvic junctio... ORPHA:818
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst... ORPHA:892
Pearson Syndrome
Renal cyst, Glycosuria, Proteinuria, Renal insufficiency, Lacticaciduria ORPHA:699
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Carpenter Syndrome 1
Hydronephrosis, Hydroureter OMIM:201000
Meckel Syndrome
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinuria, Pancreatic cysts ORPHA:2750
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Pelvic kidney, Vesicoureteral reflux, Hydronephrosis, Crossed fused renal ectopia, H... OMIM:300707
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Hyperuricosuria OMIM:300661
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst OMIM:613610
Meckel Syndrome, Type 1
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Hypoplasia of the bladder... OMIM:249000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:604292
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Micropenis OMIM:210710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Micropenis OMIM:263520
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Duplication ... ORPHA:2036
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1052
1P36 Deletion Syndrome
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Hydronephrosis ORPHA:1606
Oeis Complex
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena... OMIM:258040
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia ORPHA:84064
Distal Deletion 15Q
Micropenis, Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney ORPHA:1596
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Trisomy 10P
Abnormality of the kidney, Multiple renal cysts ORPHA:171929
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Bardet-Biedl Syndrome
Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Nephrotic syndrome, Hydronephrosi... ORPHA:110
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract ORPHA:2995
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Robinow Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Webbed penis ORPHA:97360
Pagod Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:991
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts ORPHA:955
22Q11.2 Deletion Syndrome
Hypospadias, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Multiple renal... ORPHA:567
Raine Syndrome
Hydronephrosis, Hydroureter, Neonatal death OMIM:259775
Castleman Disease
Hematuria, Ureteral obstruction, Renal insufficiency ORPHA:160
Williams Syndrome
Hypoplasia of penis, Hypercalciuria, Recurrent urinary tract infections, Pelvic kidney, Abnormali... ORPHA:904
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Roberts Syndrome
Polycystic kidney dysplasia, Long penis ORPHA:3103
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:129900
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu... ORPHA:857
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ... ORPHA:280633
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormality of the ureter ORPHA:141127
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Uri... ORPHA:90324
Tetrasomy 9P
Recurrent urinary tract infections, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Microp... ORPHA:3310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis ORPHA:93271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hydronephrosis, Renal duplication, M... ORPHA:709
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication ORPHA:457212
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Hydronephrosis, Hypospadias ORPHA:90652
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
C Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney ORPHA:1308
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Renal ... OMIM:107480
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Fanconi Anemia
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnormal preputium morphology, Abnormality of... ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Ureteral duplication, Vesicoureteral reflux, Axial malrotation of the kidney, ... OMIM:274000
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Micropenis OMIM:269150
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Renal insu... ORPHA:199
Femoral-Facial Syndrome
Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Micropenis OMIM:134780
White-Kernohan Syndrome
Hydronephrosis, Hydroureter, Horseshoe kidney OMIM:619426
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Hydroureter, Unilateral renal agenesis OMIM:619194
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Neonatal death, Renal dysplasia, Multicys... OMIM:308205
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Bladder e... OMIM:301068
Poland Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Urete... ORPHA:2911
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the bladder, Hydronephrosis, Neonatal death, Dilatation o... OMIM:265380
Frontometaphyseal Dysplasia
Ureteral obstruction, Hydronephrosis, Urethral stenosis ORPHA:1826
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder diverticulum OMIM:304150
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia ORPHA:3404
Early Infantile Epileptic Encephalopathy
Ureterocele, Renal dysplasia, Micropenis ORPHA:1934
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Urethral diverticulum OMIM:212093
Intellectual Developmental Disorder, Autosomal Dominant 73
Hydroureter OMIM:620450
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Ureteral duplication, Ureteral stenosis OMIM:270100
Roberts-Sc Phocomelia Syndrome
Stillbirth, Hypospadias, Long penis, Polycystic kidney dysplasia, Horseshoe kidney OMIM:268300
Genitopatellar Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia OMIM:606170
Chand Syndrome
Hydroureter ORPHA:1401
Mowat-Wilson Syndrome
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261537
Restrictive Dermopathy 1
Stillbirth, Ureteral duplication, Hypospadias, Neonatal death OMIM:275210
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2636
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261552
Skin Creases, Congenital Symmetric Circumferential, 2
Ureterocele, Hypospadias OMIM:616734
Pallister-Killian Syndrome
Renal dysplasia, Stillbirth, Hypospadias, Renal cyst OMIM:601803
Craniofacial Microsomia 1
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic... OMIM:164210
Coffin-Siris Syndrome 1
Hydroureter, Ectopic kidney, Hypospadias, Renal hypoplasia, Hydronephrosis OMIM:135900
Proboscis Lateralis
Duplication of renal pelvis, Ureteral agenesis, Unilateral renal agenesis ORPHA:141099
Focal Dermal Hypoplasia
Bifid ureter, Ureteral duplication, Horseshoe kidney, Hydronephrosis OMIM:305600
Sotos Syndrome
Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesicoureteral reflux, Re... ORPHA:821
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract ORPHA:2273
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Ureteral duplication OMIM:600001
Restrictive Dermopathy
Ureteral duplication, Hypospadias ORPHA:1662
Peters-Plus Syndrome
Renal hypoplasia, Ureteral duplication, Hypospadias, Hydronephrosis OMIM:261540
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication ORPHA:2255
Pmm2-Cdg
Nephrotic syndrome, Proteinuria, Multiple renal cysts, Abnormal renal tubule morphology ORPHA:79318
Microphthalmia, Syndromic 1
Renal hypoplasia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias OMIM:309800

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.

Phenotype Allele Zygosity Sex Life Stage
Kidney - MPATH pathological entity term hydronephrosis Robo2em1(IMPC)Mbp HET Early adult

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 Robo2.

No publications found that use IMPC mice or data for Robo2.

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
Robo2em1(IMPC)Mbp Exon Deletion Mice, Tissue

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