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
preweaning lethality, complete penetrance Robo2em1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Robo2em1(IMPC)Mbp HOM E15.5 0.00
abnormal neural tube morphology Robo2em1(IMPC)Mbp HOM E9.5 0.00
edema Robo2em1(IMPC)Mbp HOM E15.5 0.00
abnormal kidney morphology Robo2em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Robo2em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 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
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Lipedema
Edema OMIM:614103
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
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
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
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
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Neonatal death OMIM:228940
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... OMIM:263200
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth OMIM:236500
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:615415
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy OMIM:617056
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Fanconi Anemia, Complementation Group O
Renal cyst, Neonatal death, Hydronephrosis, Stage 5 chronic kidney disease OMIM:613390
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis ORPHA:1046
Polysyndactyly With Cardiac Malformation
Renal cyst, Stillbirth, Hepatic cysts OMIM:263630
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Renal cyst, Nephropathy, Hematuria OMIM:611773
Joubert Syndrome 20
Renal cyst OMIM:614970
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Lymphatic Malformation 2
Lymphedema OMIM:611944
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Axial Osteomalacia
Renal cyst OMIM:109130
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal cyst, Renal neoplasm OMIM:135150
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Prune Belly Syndrome
Urogenital sinus anomaly, Abnormality of the ureter, Recurrent urinary tract infections, Hydroure... ORPHA:2970
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Enlarged kidney... OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Hepatomegaly, Ureteral duplication, Enlarged kidney, Renal dysp... OMIM:608836
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney OMIM:608022
Verheij Syndrome
Renal agenesis, Renal cyst, Renal hypoplasia OMIM:615583
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... ORPHA:2842
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney ORPHA:251004
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Multicystic kidney dysplasia, Ab... ORPHA:2973
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
Joubert Syndrome 7
Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Bladder Exstrophy
Hypoplasia of penis, Abnormality of the ureter, Recurrent urinary tract infections, Bladder exstr... ORPHA:93930
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Ureteral atresia, Hydronephrosis OMIM:183802
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias OMIM:600057
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
White Sponge Nevus 2
Edema OMIM:615785
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kidney, Focal segme... OMIM:232200
Joubert Syndrome 35
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Renal cyst, Hydronephrosis, Micropenis OMIM:615287
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Enlarged kidne... OMIM:232220
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Renal ... OMIM:208540
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency OMIM:614922
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Ureteral duplication, Horseshoe kidney OMIM:602200
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus OMIM:612651
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Hydroureter, Vesicoureteral reflux OMIM:617219
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis OMIM:300209
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Polycystic kidney dyspla... OMIM:613095
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... ORPHA:105
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the upper urinary tract, Hydroureter, Hypoplasia of penis, Abnormality of the bladder ORPHA:2547
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Renal insufficiency, Ectopic kid... ORPHA:3027
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A... OMIM:137920
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Renal cys... ORPHA:1834
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... ORPHA:449395
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Heavy prote... ORPHA:255249
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... OMIM:613159
Silver-Russell Syndrome 1
Hypospadias, Abnormality of the ureter, Nephroblastoma, Urethral valve, Congenital posterior uret... OMIM:180860
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephroblastoma, Enla... OMIM:130650
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoaciduria, Polycystic kidney dy... OMIM:231680
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Bardet-Biedl Syndrome 17
Renal cyst, Polyuria, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Renal Fa... OMIM:276700
H Syndrome
Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Enlarged kidney ORPHA:168569
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, St... OMIM:216360
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Meningocele ORPHA:2031
Caudal Duplication
Abnormal penis morphology, Renal hypoplasia/aplasia, Ureteral duplication, Myelomeningocele ORPHA:1756
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... ORPHA:505248
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria OMIM:615398
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... OMIM:613550
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Joubert Syndrome 14
Renal cyst OMIM:614424
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Meckel Syndrome, Type 2
Renal cyst, Meningocele OMIM:603194
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency, Ureterocele ORPHA:261265
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Alg9-Cdg
Ureteral hypoplasia, Hepatomegaly, Hypoplasia of the bladder, Enlarged kidney, Hydronephrosis, Ab... ORPHA:79328
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy OMIM:602579
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Enlarged kidney, Mucopolysacchariduria, Cardiomegaly OMIM:252500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Hepatomegaly, Tubulointerstitial fibrosis, Enlarged kidney, Proteinuria, Nephroc... ORPHA:79259
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... ORPHA:731
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia OMIM:614091
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... OMIM:113650
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Aminoaciduria, Orotic acid crystalluria ORPHA:30
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts ORPHA:2869
Meckel Syndrome, Type 4
Renal cyst, Meningocele OMIM:611134
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Horseshoe kidney, Hepatic cysts OMIM:612284
Distal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... ORPHA:18
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney, Renal malrotation ORPHA:500095
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Cloacal Exstrophy
Myelomeningocele, Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Hydroureter, Bladde... ORPHA:93929
Exstrophy-Epispadias Complex
Bladder duplication, Cystocele, Abnormality of the kidney, Abnormality of the ureter, Bladder fis... ORPHA:322
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Congenital megaureter, Splenomegaly, Nephroblastoma, Ureteral dupl... ORPHA:116
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux, Microphallus OMIM:618454
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Hypoplasia of the bladder,... OMIM:614527
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Multicystic kidney dysplasia, Megacystis ORPHA:2241
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Bardet-Biedl Syndrome
Nephrotic syndrome, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:110
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydroureter, Hydronephrosis OMIM:619431
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis, Urethral valve OMIM:100100
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Campomelia, Cumming Type
Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts ORPHA:1318
Smith-Magenis Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormal localization of kidney ORPHA:819
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Renal Fanconi syndrome, Renal cell car... ORPHA:93111
Carnitine Palmitoyltransferase Ii Deficiency
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ... ORPHA:157
Kleefstra Syndrome
Hypoplasia of penis, Micropenis, Hypospadias, Renal cyst, Renal insufficiency, Hydronephrosis, Ve... ORPHA:261494
Vacterl/Vater Association
Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality of the urethra, Multicystic kidney ... ORPHA:887
Pallister-Hall Syndrome
Distal urethral duplication, Micropenis, Hydroureter, Neonatal death, Renal dysplasia, Renal cyst... OMIM:146510
Trisomy 1Q
Multicystic kidney dysplasia, Hydronephrosis, Congenital megaureter ORPHA:261344
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst OMIM:614866
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Renal dysplasia, Bifid ureter, Renal cyst, Renal malrotation OMIM:617107
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Distal Tetrasomy 15Q
Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... ORPHA:314588
Leprechaunism
Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Nephrocalcinosis ORPHA:508
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureterocele, Hydroureter, Ureteral obstruction, Urethral stricture, Multicystic kidney d... ORPHA:79404
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Cardiomegaly, Enlarged kidney OMIM:300855
Penile Agenesis
Urethral atresia, male, Urethral fistula, Bilateral renal hypoplasia, Hydroureter, Cystic renal d... ORPHA:49
Trisomy 20P
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal... ORPHA:261318
Arima Syndrome
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Poly... OMIM:243910
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Meckel Syndrome, Type 7
Multiple glomerular cysts, Multicystic kidney dysplasia, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Aneurysm Of Sinus Of Valsalva
Edema, Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... ORPHA:2237
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:600740
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral stenosis, Hydronephrosis, Urethral valve ORPHA:261290
Cystic Echinococcosis
Ovarian cyst, Renal cyst, Membranous nephropathy, Hepatic cysts ORPHA:400
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Abnormal penis morphology, Hypospadias, Hydroureter, Multicystic kidney... ORPHA:2461
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, Renal agenesis OMIM:220500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... ORPHA:228308
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Enlarged kidney, Horseshoe kidney, Cardiomegaly OMIM:306955
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Urethral stricture, Hematuria, Renal duplication, Renal dysp... ORPHA:79403
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter ORPHA:2311
Mosaic Trisomy 1
Penile hypospadias, Renal cyst, Renal cortical cysts, Micropenis ORPHA:1692
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Radio-Renal Syndrome
Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal dysplasia ORPHA:3015
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Alagille Syndrome
Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia ORPHA:52
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia OMIM:308205
Branchio-Oculo-Facial Syndrome
Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1297
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Renal ... ORPHA:369837
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... ORPHA:84081
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Abnormality of the ureter, Abnormality of the bladder, Ep... ORPHA:3339
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Functional abnormality of the bladder, Renal insufficiency, Enuresis ... ORPHA:223
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Meckel Syndrome 12
Renal agenesis, Ureteral hypoplasia, Renal hypoplasia OMIM:616258
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Polycystic kidney dysplasia, Pancreatic cysts OMIM:610199
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria, Lacticaciduria, Ethylm... ORPHA:26791
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Pancreatic cysts OMIM:208500
Zellweger Syndrome
Hypospadias, Multicystic kidney dysplasia, Hydronephrosis ORPHA:912
Joubert Syndrome 2
Renal cyst, Renal insufficiency, Nephronophthisis OMIM:608091
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficiency, Renal hamartoma... ORPHA:99880
Von Hippel-Lindau Syndrome
Renal cell carcinoma, Epididymal cyst, Multiple renal cysts, Pancreatic cysts OMIM:193300
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopathy OMIM:212065
Baller-Gerold Syndrome
Abnormality of the ureter, Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis ORPHA:1225
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Glandular hypospadias, Urethral stricture, Mu... ORPHA:2473
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Micropenis ORPHA:1926
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Parathyroid Carcinoma
Nephrolithiasis, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficiency, Renal hamartoma... ORPHA:143
Cornelia De Lange Syndrome 1
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Renal cys... OMIM:122470
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia OMIM:617260
Cardiac Valvular Dysplasia 1
Hydroureter, Hydronephrosis, Urethral diverticulum OMIM:212093
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Abnormality of the ureter, Hypo... ORPHA:289
Mosaic Trisomy 9
Hypoplasia of penis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney, Hydronephrosis ORPHA:99776
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Horseshoe kidney, Pelvic kidney, Cystic renal dysplasia OMIM:156810
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Hydronephrosis, Pelvic kidney ORPHA:464311
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Right ventricular hypertrophy, Splenomegaly, Hypospadias, Nephroblastoma, Enlarged ... OMIM:312870
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux OMIM:606232
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency OMIM:617478
Joubert Syndrome 1
Renal cyst, Nephropathy, Occipital myelomeningocele OMIM:213300
Dextrocardia
Abnormality of the ureter, Abnormal renal morphology ORPHA:1666
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Neuromuscular Oculoauditory Syndrome
Multiple renal cysts, Reduced renal corticomedullary differentiation OMIM:618733
Alveolar Echinococcosis
Abnormality of bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts ORPHA:284
Fryns Syndrome
Hypospadias, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis ORPHA:2059
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Stankiewicz-Isidor Syndrome
Hypospadias, Ureteral duplication, Micropenis OMIM:617516
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... DECIPHER:81
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Reduced renal corticomedullary differentiation, Ureteral duplication, Renal dys... OMIM:266920
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia OMIM:616300
Dyrk1A-Related Intellectual Disability Syndrome
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Hydronephrosis, Pelvic kidney ORPHA:464306
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cyst, Renal cell carcinoma OMIM:191100
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cyst, Absence of renal corticomedullary differentiation, Renal cell c... OMIM:613254
Tuberous Sclerosis Complex
Chronic kidney disease, Renal angiomyolipoma, Abnormality of the kidney, Hepatic cysts, Renal cys... ORPHA:805
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Hydronephrosis, Ureteral agenesis, Congenital megaureter ORPHA:2437
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Nephronophthisis, Hypospadias, Abnormality of the kidney, Hepatic cysts... ORPHA:1505
Noonan Syndrome 9
Hydroureter OMIM:616559
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarged kidney OMIM:618280
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Hydronephrosis OMIM:222300
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Renal cyst, Nephroblastoma, Micropenis OMIM:257300
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Fryns Syndrome
Renal agenesis, Hypospadias, Ureteral duplication, Renal cyst, Hydronephrosis, Stillbirth OMIM:229850
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1454
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Peutz-Jeghers Syndrome
Bladder polyp, Abnormality of the ureter, Ovarian cyst OMIM:175200
Codas Syndrome
Hydroureter ORPHA:1458
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Koolen-De Vries Syndrome
Hypospadias, Renal duplication, Ureteral duplication, Hydronephrosis, Vesicoureteral reflux ORPHA:96169
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Renal agenesis, Multicystic kidney dysplasia, Crossed fused renal ectop... ORPHA:2538
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis ORPHA:2092
Diphallia
Distal urethral duplication, Hypospadias, Ureteral duplication, Renal duplication, Bladder exstro... ORPHA:227
Familial Visceral Myopathy
Hydroureter, Vesicoureteral reflux, Megacystis ORPHA:2604
Acrorenal-Mandibular Syndrome
Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis OMIM:200980
Vici Syndrome
Ureteral atresia, Renal tubular acidosis ORPHA:1493
Floating-Harbor Syndrome
Epididymal cyst, Renal agenesis, Hypospadias, Renal cyst, Polycystic kidney dysplasia, Hydronephr... ORPHA:2044
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia, Neonatal death OMIM:269860
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Bladder trabeculation, Ureteral duplication, Renal dysplasia, Hydronephrosis... OMIM:614080
Smith-Lemli-Opitz Syndrome
Micropenis, Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal cyst, Ureteropelvic jun... OMIM:270400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Renal cyst, Vesicoureteral reflux OMIM:616975
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Reduced renal corticomedullary differ... OMIM:610188
Schinzel-Giedion Syndrome
Nephrolithiasis, Micropenis, Hypospadias, Abnormality of the ureter, Nephroblastoma, Renal cyst, ... ORPHA:798
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Cerebrocostomandibular Syndrome
Renal cyst, Horseshoe kidney, Ectopic kidney OMIM:117650
Cerebrocostomandibular Syndrome
Myelomeningocele, Multicystic kidney dysplasia, Meningocele ORPHA:1393
Schwartz-Jampel Syndrome
Nephrolithiasis, Abnormality of the urinary system, Abnormality of the ureter ORPHA:800
Hajdu-Cheney Syndrome
Hypospadias, Renal cyst OMIM:102500
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication OMIM:270420
Orofaciodigital Syndrome I
Myelomeningocele, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia, Proteinuria, Pancreat... OMIM:311200
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Renal angiomyolipoma, Hematuria, Multiple renal cysts ORPHA:538
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal cyst, Renal hypoplasia, Stillbirth, Micropenis OMIM:210710
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Distal Monosomy 12Q
Micropenis, Polycystic kidney dysplasia, Ectopic kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:96149
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Hypospadias, Hydroureter, Multicystic kidney dysplasia, Ureteral duplication... ORPHA:373
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
Microphthalmia, Lenz Type
Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:568
Alagille Syndrome 1
Renal tubular acidosis, Renal dysplasia, Focal segmental glomerulosclerosis, Renal hypoplasia, Du... OMIM:118450
Pearson Syndrome
Glycosuria, Renal cyst, Renal insufficiency, Proteinuria, Lacticaciduria ORPHA:699
Carpenter Syndrome 1
Hydroureter, Hydronephrosis OMIM:201000
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Oligosacchariduria, Aminoaciduria, Abnormal renal tubule morphology, Proximal re... ORPHA:534
Von Hippel-Lindau Disease
Elevated urinary catecholamines, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst, Pan... ORPHA:892
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Hypospadias, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, ... ORPHA:397715
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Multicystic kidney dysplasia, Uretero... ORPHA:818
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Meckel Syndrome
Urethral atresia, Multicystic kidney dysplasia, Ureteral duplication, Pancreatic cysts ORPHA:564
Cranioectodermal Dysplasia 2
Renal cyst, Renal insufficiency OMIM:613610
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Hyperuricosuria, Urolithiasis, Renal insufficiency, Uric acid nephrolithiasis OMIM:300661
Meckel Syndrome, Type 1
Renal agenesis, Abnormality of the ureter, Hypoplasia of the bladder, Cystic renal dysplasia, Pol... OMIM:249000
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts ORPHA:2750
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Micropenis OMIM:263520
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Recurrent urinary tract infections, Ureteral duplication, Pyelonephrit... ORPHA:2036
Pagod Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Meningocele ORPHA:991
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
C Syndrome
Renal cortical cysts OMIM:211750
Oeis Complex
Vesicovaginal fistula, Micropenis, Renal agenesis, Hydroureter, Bladder exstrophy, Duplicated col... OMIM:258040
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hydronephrosis ORPHA:1507
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... OMIM:604292
22Q11.2 Deletion Syndrome
Hypospadias, Multiple renal cysts, Polycystic kidney dysplasia, Renal hypoplasia, Meningocele, Ve... ORPHA:567
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia ORPHA:84064
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis ORPHA:1606
Trisomy 10P
Abnormality of the kidney, Multiple renal cysts ORPHA:171929
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Bifid ureter, Vesicoureteral reflux, Ureteral duplication OMIM:601347
Raine Syndrome
Hydroureter, Neonatal death, Hydronephrosis OMIM:259775
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts ORPHA:955
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Townes-Brocks Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Multiple renal cysts, Renal hypoplas... ORPHA:857
Baraitser-Winter Cerebrofrontofacial Syndrome
Abnormality of the upper urinary tract, Hydroureter, Hydronephrosis ORPHA:2995
Williams Syndrome
Nephrolithiasis, Bladder diverticulum, Hypoplasia of penis, Polycystic ovaries, Recurrent urinary... ORPHA:904
Roberts Syndrome
Polycystic kidney dysplasia, Long penis ORPHA:3103
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormality of the ureter ORPHA:141127
Distal Monosomy 15Q
Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney, Micropenis ORPHA:1596
Castleman Disease
Renal insufficiency, Ureteral obstruction, Hematuria ORPHA:160
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Unilateral renal dysplasia, Congenital megaureter, Abnormal renal collecting system morphology, H... ORPHA:280633
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis, Micropenis OMIM:134780
Cockayne Syndrome Type 3
Unilateral renal agenesis, Hydroureter, Urinary retention, Renal hypoplasia, Renal insufficiency,... ORPHA:90324
Townes-Brocks Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency... OMIM:107480
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... OMIM:129900
Otopalatodigital Syndrome Type 2
Hypospadias, Ureteral obstruction, Hydronephrosis ORPHA:90652
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal cyst, Renal hypoplasia, Hydronephrosis ORPHA:93271
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Duplication of renal pelvis ORPHA:457212
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Fraser Syndrome
Myelomeningocele, Urethral atresia, Hypoplasia of penis, Hypospadias, Multicystic kidney dysplasi... ORPHA:2052
C Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney ORPHA:1308
Tetrasomy 9P
Micropenis, Recurrent urinary tract infections, Multiple renal cysts, Renal dysplasia, Horseshoe ... ORPHA:3310
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Horseshoe kidney, Dilatation of the renal pelvis, Axial malrotation of the ... OMIM:274000
Faciocardiorenal Syndrome
Hydroureter, Horseshoe kidney OMIM:227280
Peters Plus Syndrome
Renal hypoplasia/aplasia, Hypospadias, Multicystic kidney dysplasia, Ureteral duplication, Renal ... ORPHA:709
Schinzel-Giedion Midface Retraction Syndrome
Micropenis, Hypospadias, Hydroureter, Ureteral stenosis, Hydronephrosis OMIM:269150
Fanconi Anemia
Renal hypoplasia/aplasia, Abnormal preputium morphology, Hypospadias, Abnormality of the urinary ... ORPHA:84
Proteus Syndrome
Renal cyst, Enlarged polycystic ovaries, Long penis ORPHA:744
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Hypoplasia of the bladder, Bladder exstrophy, Re... OMIM:301068
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Hydronephrosis OMIM:619426
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Multicystic kidney dysplasia, Renal insufficiency, Vesicoureter... ORPHA:199
Occipital Horn Syndrome
Bladder diverticulum, Ureteral obstruction, Hydronephrosis OMIM:304150
Poland Syndrome
Renal hypoplasia/aplasia, Ureterocele, Hypospadias, Duplicated collecting system, Renal hypoplasi... ORPHA:2911
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Micropenis OMIM:606170
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Hydroureter, Neonatal death, Dilatation of the renal pelvis, Hydronephrosis, Dilatat... OMIM:265380
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis OMIM:619194
Roberts-Sc Phocomelia Syndrome
Hypospadias, Long penis, Polycystic kidney dysplasia, Horseshoe kidney, Stillbirth OMIM:268300
Frontometaphyseal Dysplasia
Ureteral obstruction, Urethral stenosis, Hydronephrosis ORPHA:1826
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Ulbright-Hodes Syndrome
Abnormal penis morphology, Polycystic kidney dysplasia, Renal hypoplasia ORPHA:3404
Chand Syndrome
Hydroureter ORPHA:1401
Early Infantile Epileptic Encephalopathy
Renal dysplasia, Micropenis, Ureterocele ORPHA:1934
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney, Abnormality of th... ORPHA:2636
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Micropenis, Hypospadias, Multicystic kidney dysplasia, Renal duplication, Hydronephrosis... ORPHA:261537
Mowat-Wilson Syndrome
Chordee, Micropenis, Hypospadias, Abnormality of the kidney, Multicystic kidney dysplasia, Renal ... ORPHA:2152
Restrictive Dermopathy 1
Hypospadias, Stillbirth, Ureteral duplication, Neonatal death OMIM:275210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Micropenis, Hypospadias, Multicystic kidney dysplasia, Renal duplication, Hydronephrosis... ORPHA:261552
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Ureteral duplication, Ureteral stenosis OMIM:270100
Craniofacial Microsomia
Renal agenesis, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Ectopic kidney,... OMIM:164210
Focal Dermal Hypoplasia
Bifid ureter, Horseshoe kidney, Hydronephrosis, Ureteral duplication OMIM:305600
Coffin-Siris Syndrome 1
Hypospadias, Hydroureter, Renal hypoplasia, Ectopic kidney, Hydronephrosis OMIM:135900
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis ORPHA:141099
Pallister-Killian Syndrome
Hypospadias, Renal cyst, Stillbirth, Renal dysplasia OMIM:601803
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney, Hydronephrosis ORPHA:2273
Sotos Syndrome
Renal agenesis, Abnormality of the kidney, Hypospadias, Ureteral duplication, Ureteropelvic junct... ORPHA:821
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Ureteral duplication OMIM:600001
Restrictive Dermopathy
Hypospadias, Ureteral duplication ORPHA:1662
Peters-Plus Syndrome
Hypospadias, Renal hypoplasia, Ureteral duplication, Hydronephrosis OMIM:261540
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication ORPHA:2255
Pmm2-Cdg
Abnormal renal tubule morphology, Nephrotic syndrome, Multiple renal cysts, Proteinuria ORPHA:79318
Microphthalmia, Syndromic 1
Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hypoplasia 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

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MGI Allele Allele Type Produced
Robo2em1(IMPC)Mbp Exon Deletion Mice, Tissue

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