Gene Summary

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

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

Download data as:  TSV  XLS

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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 Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 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, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Lipedema
Edema OMIM:614103
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Stillbirth OMIM:274210
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
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 OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ureteral agenesis OMIM:236500
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Joubert Syndrome 20
Renal cyst OMIM:614970
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormality of the ureter ORPHA:1046
Lymphatic Malformation 2
Lymphedema OMIM:611944
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Axial Osteomalacia
Renal cyst OMIM:109130
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Polysyndactyly With Cardiac Malformation
Renal cyst, Stillbirth OMIM:263630
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Long-ch... OMIM:608836
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Hepatomegaly, Nephrot... OMIM:617303
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... ORPHA:2970
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra... ORPHA:2842
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chr... OMIM:613095
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Re... OMIM:208540
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio... OMIM:232200
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... OMIM:167030
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Bladder exs... ORPHA:93930
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
White Sponge Nevus 2
Edema OMIM:615785
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Splenomegaly, Renal Fanconi syndrome, Renal ... OMIM:276700
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio... OMIM:232220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the bladder, Abnormality of the upper urinary tract, Hypoplasia of penis, Hydroureter ORPHA:2547
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
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis OMIM:183802
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Caudal Regression Sequence
Renal agenesis, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney, Renal insuffici... ORPHA:3027
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Simpson-Golabi-Behmel Syndrome, Type 2
Micropenis, Multicystic kidney dysplasia OMIM:300209
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu... OMIM:130650
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Hepatosplenomegaly, Enlarged kidney ORPHA:464329
Silver-Russell Syndrome 1
Urethral valve, Abnormality of the ureter, Nephroblastoma, Congenital posterior urethral valve, H... OMIM:180860
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Glycosu... OMIM:231680
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Campomelia, Cumming Type
Polycystic kidney dysplasia OMIM:211890
H Syndrome
Hepatosplenomegaly, Micropenis, Abnormality of the kidney, Enlarged kidney ORPHA:168569
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Nephrotic syndrome, Heavy prote... ORPHA:255249
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Edema OMIM:180080
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Nephrotic syndrome, Urinary glycosaminoglyca... ORPHA:505248
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hypercalciuria, Nephrocalcinosis, Renal cyst OMIM:615398
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia OMIM:617866
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney ORPHA:1988
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Trisomy 13
Displacement of the urethral meatus, Multiple renal cysts, Hydronephrosis, Abnormality of the ureter ORPHA:3378
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Oliguria, Reduced renal... ORPHA:731
Caudal Duplication
Abnormal penis morphology, Renal hypoplasia/aplasia, Ureteral duplication ORPHA:1756
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement membrane ... OMIM:613159
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Joubert Syndrome 14
Renal cyst OMIM:614424
17Q12 Microdeletion Syndrome
Renal insufficiency, Renal hypoplasia/aplasia, Ureterocele, Multicystic kidney dysplasia ORPHA:261265
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Stage 5 chronic kidney disease, Nephr... ORPHA:79259
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Renal steatosis, Renal dysplasia,... OMIM:113650
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Hydroureter OMIM:100100
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Multicystic kidney dysplasia, Nephroblastoma ORPHA:500095
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Enlarged kidney, Congenital megaureter, Visceromegaly, Nephropathy, Hepatom... ORPHA:116
Exstrophy-Epispadias Complex
Bladder duplication, Horseshoe kidney, Renal hypoplasia, Penoscrotal transposition, Renal duplica... ORPHA:322
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Nephrocalcinosis, Renal cyst, 3-Methylglutaconic aciduria ORPHA:445038
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:1770
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Meckel Syndrome, Type 6
Renal cyst OMIM:612284
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Peutz-Jeghers Syndrome
Multiple renal cysts, Renal cell carcinoma, Abnormality of the ureter ORPHA:2869
Cloacal Exstrophy
Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Vesicoureteral reflux, Ectopic... ORPHA:93929
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Hydronephrosis OMIM:618454
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ectopic kidney, Hydro... OMIM:146510
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Nephrocalcinosis ORPHA:508
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst OMIM:614866
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Bifid ureter, Renal dysplasia, Nephroblastoma, Renal cyst OMIM:617107
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Nonimmune hydrops fet... OMIM:616843
Kleefstra Syndrome
Vesicoureteral reflux, Renal cyst, Hydronephrosis, Hypospadias, Renal insufficiency, Micropenis, ... ORPHA:261494
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Renal cyst OMIM:608091
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Multicystic kidney dy... ORPHA:93111
Vacterl/Vater Association
Renal agenesis, Multicystic kidney dysplasia, Abnormality of the urethra, Ectopic kidney, Hydrone... ORPHA:887
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:157
Penile Agenesis
Unilateral renal hypoplasia, Hydroureter, Bilateral renal agenesis, Cystic renal dysplasia, Ureth... ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Multicystic kidney dysplasia, Hydroureter ORPHA:2241
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome ORPHA:110
Trisomy 20P
Multiple renal cysts, Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis,... ORPHA:261318
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261344
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Aplasia/Hypoplasia of the bladder, Hydroureter, Renal tubular epit... ORPHA:79404
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Abnormality of the ureter ORPHA:819
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Renal insuf... OMIM:600740
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Aneurysm Of Sinus Of Valsalva
Heart murmur, Congestive heart failure, Edema, Aortic regurgitation ORPHA:1054
Distal Tetrasomy 15Q
Horseshoe kidney, Nephroblastoma, Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the... ORPHA:314588
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Urinary bladder inflammation, Renal dysplasia, Hydronephrosis, Urethral stricture, Apl... ORPHA:79403
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Abnormal penis morphology, Abnormality of the urinary system, Multic... ORPHA:2461
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Mody
Renal cyst, Abnormality of the kidney, Nephropathy, Glycosuria ORPHA:552
Campomelia, Cumming Type
Multiple renal cysts, Multicystic kidney dysplasia ORPHA:1318
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Trisomy 17P
Urethral valve, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplasia, Hypoplasia of penis ORPHA:261290
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:228308
Mosaic Trisomy 1
Penile hypospadias, Micropenis, Renal cortical cysts, Renal cyst ORPHA:1692
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:243910
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Renal dysplasia, Renal agenesis, Multicystic kidney dysplasia ORPHA:3015
Alagille Syndrome
Renal hypoplasia/aplasia, Nephrotic syndrome, Abnormality of the ureter ORPHA:52
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep... ORPHA:3339
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Renal ... ORPHA:369837
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Proteinuria, Nephrotic syndrome OMIM:212065
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insufficiency, Nephrocalcinosi... ORPHA:99880
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Renal insuf... ORPHA:223
Meckel Syndrome, Type 7
Multiple glomerular cysts, Stage 5 chronic kidney disease, Multicystic kidney dysplasia OMIM:267010
Baller-Gerold Syndrome
Vesicoureteral reflux, Hydronephrosis, Abnormal localization of kidney, Abnormality of the ureter ORPHA:1225
Joubert Syndrome 1
Renal cyst, Nephropathy OMIM:213300
Zellweger Syndrome
Hypospadias, Hydronephrosis, Multicystic kidney dysplasia ORPHA:912
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Parathyroid Carcinoma
Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insufficiency, Nephrocalcinosi... ORPHA:143
Mckusick-Kaufman Syndrome
Glandular hypospadias, Urogenital sinus anomaly, Multicystic kidney dysplasia, Hydronephrosis, Ur... ORPHA:2473
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Ethylm... ORPHA:26791
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia, Hydroureter OMIM:236700
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter ORPHA:2311
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:308205
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Nephroblastoma, Duplication of renal pelvis, Renal cyst, Splenomeg... OMIM:312870
Cystic Echinococcosis
Renal cyst, Membranous nephropathy ORPHA:400
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis ORPHA:1926
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst ORPHA:480536
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Abnormality of the uret... ORPHA:158684
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Hydronephrosis, Hydroureter OMIM:212093
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Ectopic kidney, R... OMIM:122470
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Ellis Van Creveld Syndrome
Hydroureter, Abnormality of the ureter, Hypospadias, Epispadias, Renal hypoplasia/aplasia, Abnorm... ORPHA:289
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Polycystic kidney dysplasia OMIM:610199
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Renal cyst, Renal insufficiency, Nephritis, Proteinuria OMIM:208500
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Unilateral renal agenesis, Pelvic kidney OMIM:156810
Mosaic Trisomy 9
Multiple renal cysts, Horseshoe kidney, Renal dysplasia, Hydronephrosis, Hypoplasia of penis ORPHA:99776
Dextrocardia
Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Ureteral ... OMIM:612726
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464311
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormality of the kidney OMIM:606232
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1001
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
15q26 overgrowth syndrome
Horseshoe kidney, Vesicoureteral reflux, Duplication of renal pelvis, Hydronephrosis, Polycystic ... DECIPHER:81
Neuromuscular Oculoauditory Syndrome
Multiple renal cysts, Reduced renal corticomedullary differentiation OMIM:618733
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464306
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Wolfram Syndrome 1
Neurogenic bladder, Hydronephrosis, Hydroureter OMIM:222300
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Czeizel-Losonci Syndrome
Congenital megaureter, Abnormality of the urinary system, Hydronephrosis, Ureteral agenesis ORPHA:2437
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2059
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Nephroblastoma, Micropenis, Renal cyst OMIM:257300
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cell carcinoma, Chronic kidney disease, Renal cyst, Stage 5 chronic k... ORPHA:805
Hemifacial Microsomia
Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureteral reflux, Ectopic ... OMIM:164210
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:613254
Fryns Syndrome
Renal agenesis, Stillbirth, Renal cyst, Hydronephrosis, Hypospadias, Ureteral duplication OMIM:229850
Diphallia
Renal malrotation, Horseshoe kidney, Penoscrotal transposition, Bladder exstrophy, Hypospadias, B... ORPHA:227
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Peutz-Jeghers Syndrome
Bladder polyp, Abnormality of the ureter OMIM:175200
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Codas Syndrome
Hydroureter ORPHA:1458
Noonan Syndrome 9
Hydroureter OMIM:616559
Short Rib-Polydactyly Syndrome
Nephronophthisis, Urogenital sinus anomaly, Polycystic kidney dysplasia, Hypospadias, Abnormality... ORPHA:1505
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Polycystic kidney dysplasia, Abnormality of the ureter OMIM:200980
Koolen-De Vries Syndrome
Vesicoureteral reflux, Hydronephrosis, Hypospadias, Ureteral duplication, Renal duplication ORPHA:96169
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Smith-Lemli-Opitz Syndrome
Renal hypoplasia, Unilateral renal agenesis, Ureteropelvic junction obstruction, Renal cyst, Hydr... OMIM:270400
Familial Visceral Myopathy
Vesicoureteral reflux, Megacystis, Hydroureter ORPHA:2604
Von Hippel-Lindau Syndrome
Multiple renal cysts, Renal cell carcinoma OMIM:193300
Vici Syndrome
Renal tubular acidosis, Ureteral atresia ORPHA:1493
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication OMIM:270420
Alveolar Echinococcosis
Abnormality of bladder morphology, Renal cyst ORPHA:284
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Bladder trabeculation, Ureteral hypoplasia, Renal dysplasia, Vesicoureteral reflux, Hydronephrosi... OMIM:614080
Floating-Harbor Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Congenital posterior ... ORPHA:2044
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Vesicoureteral reflux, Renal cyst OMIM:616975
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Microgastria-Limb Reduction Defect Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Renal agenesis, Multicystic kidney dysplasia, Rena... ORPHA:2538
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Nephrolithiasis, Abnormality of the ureter ORPHA:800
Focal Dermal Hypoplasia
Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2092
Stankiewicz-Isidor Syndrome
Hypospadias, Ureteral duplication, Micropenis OMIM:617516
Schinzel-Giedion Syndrome
Abnormality of the ureter, Renal cyst, Hydronephrosis, Nephroblastoma, Hypospadias, Micropenis, N... ORPHA:798
Joubert Syndrome 5
Nephronophthisis, Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kid... OMIM:610188
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Hajdu-Cheney Syndrome
Hypospadias, Renal cyst OMIM:102500
Lymphangioleiomyomatosis
Renal neoplasm, Multiple renal cysts, Abnormal urinary color, Hematuria, Renal angiomyolipoma ORPHA:538
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Opitz Gbbb Syndrome, Type Ii
Hypospadias, Abnormality of the kidney, Abnormality of the ureter OMIM:145410
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Neonatal death, Cystic renal dysplasia OMIM:269860
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Duplicated collecting system, Renal tubular... OMIM:118450
Distal Monosomy 12Q
Vesicoureteral reflux, Ectopic kidney, Polycystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:96149
Simpson-Golabi-Behmel Syndrome
Hydroureter, Multicystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Hypoplasia of penis, H... ORPHA:373
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Stillbirth, Micropenis, Renal cyst OMIM:210710
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Megacystis, Hydroureter, Duplicated collecting system, Bladder diverticulum, Urethral stenosis, R... OMIM:604292
Pearson Syndrome
Lacticaciduria, Glycosuria, Renal cyst, Renal insufficiency, Proteinuria ORPHA:699
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Meckel Syndrome, Type 1
Polycystic kidney dysplasia, Renal agenesis, Hypoplasia of the bladder, Abnormality of the ureter OMIM:249000
Joubert Syndrome With Hepatic Defect
Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1454
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst OMIM:613610
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Oligosacchariduria, Aminoacidu... ORPHA:534
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Carpenter Syndrome 1
Hydronephrosis, Hydroureter OMIM:201000
Histiocytoid Cardiomyopathy
Renal cyst ORPHA:137675
Raine Syndrome
Neonatal death, Hydronephrosis, Hydroureter OMIM:259775
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction... ORPHA:818
Scalp-Ear-Nipple Syndrome
Pyelonephritis, Recurrent urinary tract infections, Duplication of renal pelvis, Ureteral duplica... ORPHA:2036
Townes-Brocks Syndrome 1
Renal hypoplasia, Urethral valve, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral r... OMIM:107480
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Oeis Complex
Renal agenesis, Hydroureter, Duplicated collecting system, Hydronephrosis, Vesicovaginal fistula,... OMIM:258040
Orofaciodigital Syndrome Type 1
Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Meckel Syndrome
Urethral atresia, Ureteral duplication, Multicystic kidney dysplasia ORPHA:564
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
1P36 Deletion Syndrome
Renal cyst, Hydronephrosis, Hypoplasia of penis, Hypospadias, Abnormality of the kidney ORPHA:1606
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Ureteral duplication, Vesicoureteral reflux, Bifid ureter OMIM:601347
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1052
Pagod Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:991
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Caroli Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney ORPHA:480520
Robinow Syndrome
Multicystic kidney dysplasia, Micropenis, Webbed penis, Hydronephrosis ORPHA:97360
Townes-Brocks Syndrome
Multiple renal cysts, Renal hypoplasia, Urethral valve, Vesicoureteral reflux, Ectopic kidney, Hy... ORPHA:857
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Von Hippel-Lindau Disease
Elevated urinary catecholamines, Multiple renal cysts, Renal cell carcinoma ORPHA:892
Microphthalmia, Lenz Type
Hypospadias, Renal hypoplasia/aplasia, Hydronephrosis, Hydroureter ORPHA:568
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormality of the ureter ORPHA:141127
22Q11.2 Deletion Syndrome
Multiple renal cysts, Renal hypoplasia, Vesicoureteral reflux, Polycystic kidney dysplasia, Hypos... ORPHA:567
Otopalatodigital Syndrome Type 2
Hypospadias, Hydronephrosis, Ureteral obstruction ORPHA:90652
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts ORPHA:955
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis, Hypoplasia of penis ORPHA:93271
Femoral-Facial Syndrome
Renal agenesis, Micropenis, Abnormal renal collecting system morphology, Polycystic kidney dysplasia OMIM:134780
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Unilateral renal agenesis, Urinary retention, ... ORPHA:90324
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypoplasia of penis ORPHA:1507
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Bladder diverticulum, Renal dysplasia, Vesicoureteral ... OMIM:129900
Distal Monosomy 15Q
Hypospadias, Multicystic kidney dysplasia, Micropenis, Abnormal localization of kidney ORPHA:1596
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Hypertrophy of the urinary bladder, Con... ORPHA:280633
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Duplication of renal pelvis ORPHA:457212
Roberts Syndrome
Polycystic kidney dysplasia, Long penis ORPHA:3103
Fanconi Anemia
Abnormal renal morphology, Hydroureter, Abnormality of the urinary system, Recurrent urinary trac... ORPHA:84
C Syndrome
Renal hypoplasia/aplasia, Horseshoe kidney, Multicystic kidney dysplasia ORPHA:1308
Castleman Disease
Renal insufficiency, Hematuria, Ureteral obstruction ORPHA:160
Tetrasomy 9P
Multiple renal cysts, Horseshoe kidney, Recurrent urinary tract infections, Renal dysplasia, Hydr... ORPHA:3310
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hydronephrosis, Ureteral stenosis, Hypospadias, Micropenis OMIM:269150
Faciocardiorenal Syndrome
Horseshoe kidney, Hydroureter OMIM:227280
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Fraser Syndrome
Urethral atresia, Renal hypoplasia, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias ORPHA:2052
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Proteus Syndrome
Renal cyst, Long penis ORPHA:744
Peters Plus Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypospadias, Renal hypoplasia/aplasia, Ureteral dup... ORPHA:709
Poland Syndrome
Renal hypoplasia, Duplicated collecting system, Vesicoureteral reflux, Hypospadias, Renal hypopla... ORPHA:2911
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder diverticulum OMIM:304150
Genitopatellar Syndrome
Multicystic kidney dysplasia, Micropenis, Hydronephrosis OMIM:606170
Baraitser-Winter Cerebrofrontofacial Syndrome
Abnormality of the upper urinary tract, Hydronephrosis, Hydroureter ORPHA:2995
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter OMIM:619194
Roberts-Sc Phocomelia Syndrome
Horseshoe kidney, Long penis, Stillbirth, Polycystic kidney dysplasia, Hypospadias OMIM:268300
Branchiooculofacial Syndrome
Hypospadias, Renal agenesis, Renal cyst OMIM:113620
Ulbright-Hodes Syndrome
Renal hypoplasia, Abnormal penis morphology, Polycystic kidney dysplasia ORPHA:3404
Frontometaphyseal Dysplasia
Urethral stenosis, Ureteral obstruction, Hydronephrosis ORPHA:1826
Cornelia De Lange Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypoplasia of penis, Hy... ORPHA:199
Restrictive Dermopathy, Lethal
Hypospadias, Ureteral duplication, Stillbirth OMIM:275210
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Early Infantile Epileptic Encephalopathy
Renal dysplasia, Micropenis, Ureterocele ORPHA:1934
Chand Syndrome
Hydroureter ORPHA:1401
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Micropenis, Multicystic kidney dysplasia, Urinary incontinence, Vesicoureteral reflux, H... ORPHA:261537
Mowat-Wilson Syndrome
Chordee, Micropenis, Renal duplication, Multicystic kidney dysplasia, Urinary incontinence, Vesic... ORPHA:2152
Pallister-Killian Syndrome
Hypospadias, Renal dysplasia, Renal cyst, Stillbirth OMIM:601803
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Micropenis, Multicystic kidney dysplasia, Urinary incontinence, Vesicoureteral reflux, D... ORPHA:261552
Coffin-Siris Syndrome 1
Hydroureter, Renal hypoplasia, Hydronephrosis, Ectopic kidney, Hypospadias OMIM:135900
Focal Dermal Hypoplasia
Horseshoe kidney, Ureteral duplication, Hydronephrosis, Bifid ureter OMIM:305600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Neonatal death, Hydronephrosis, Dilatation of the bladder, Hypospadias, Dilatation o... OMIM:265380
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the upper urinary tract, Hydronephrosis, Abnormality of the kidney, Hydroureter ORPHA:2273
Sotos Syndrome
Renal agenesis, Hypospadias, Ureteropelvic junction obstruction, Vesicoureteral reflux, Hydroneph... ORPHA:821
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Glycosuria OMIM:600001
Restrictive Dermopathy
Hypospadias, Ureteral duplication ORPHA:1662
Peters-Plus Syndrome
Renal hypoplasia, Hypospadias, 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, Renal hypoplasia/aplasia, Renal hypoplasia, Hydroureter 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.

There is no histopathology data for Robo2

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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