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Gene: Lzts2 MGI:2385095

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
leucine zipper, putative tumor suppressor 2
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lzts2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lzts2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... OMIM:236730
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder ORPHA:2547
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Endometrial carcinoma, Ureteral duplication ORPHA:457212
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vaginal atresia OMIM:615989
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Macdermot-Winter Syndrome
Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism OMIM:615982
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... OMIM:600057
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1756
Image Syndrome
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis ORPHA:85173
Meckel Syndrome, Type 9
Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Noonan Syndrome 9
Cryptorchidism, Hydroureter OMIM:616559
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome... ORPHA:93929
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Testicular atrophy, Hydronephrosis OMIM:222300
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... OMIM:236700
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Penoscrotal Transposition
Abnormal external genitalia, Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal... ORPHA:2842
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis, Umbilical hernia ORPHA:2241
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Ureteral agenesis, Abnormality of the urinary system, Congenital ... ORPHA:2437
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Renal cyst OMIM:231060
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Spinal dysraphism, Micropenis, Ab... ORPHA:1926
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Cryptorchidi... OMIM:258040
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Septate vagina, Spina bifida occulta, Bicornuate uterus, ... OMIM:300707
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, External genital hypoplasia, Unilateral renal age... ORPHA:141099
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Bilateral renal agenesis, Hyperech... OMIM:617914
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts ORPHA:3033
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen... ORPHA:261344
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis OMIM:615996
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis ORPHA:568
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Megacystis, Vesicoureteral reflux, Umbilical hernia ORPHA:2604
Codas Syndrome
Hydroureter ORPHA:1458
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, Hydronephrosis OMIM:618578
Joubert Syndrome 16
Encephalocele, Renal cyst, Nephronophthisis OMIM:614465
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst OMIM:605231
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina... OMIM:616258
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,... ORPHA:411709
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... OMIM:180860
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm... ORPHA:3027
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Bladder Exstrophy
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, A... ORPHA:93930
Endove Syndrome, Limb-Only Type
Hypoplastic labia majora, Umbilical hernia, Vesicoureteral reflux, Hydronephrosis OMIM:619217
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Carpenter Syndrome 1
Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Umbilical hernia, S... OMIM:201000
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovaries, Gonadal dysgenesis, Umbi... ORPHA:1770
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Hydranencephaly, Renal dysplasia OMIM:236500
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter ORPHA:1035
Joubert Syndrome 20
Renal cyst OMIM:614970
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uteru... OMIM:154230
Meckel Syndrome 13
Occipital encephalocele, Polycystic kidney dysplasia OMIM:617562
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Pallister-Hall Syndrome
Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response to growth hormone stimulatio... OMIM:146510
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter, Hypogonadism ORPHA:3409
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi... ORPHA:107
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta, Hydronephrosis OMIM:618060
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperec... OMIM:613885
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Schizophrenia 1
Partially duplicated kidney, Renal agenesis, Ectopic kidney OMIM:181510
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto... ORPHA:289
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... OMIM:145001
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Rectovaginal fistula, Renal duplication OMIM:270420
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Absence of Stensen duct, Decreased re... OMIM:604292
Lumbar Syndrome
Bifid scrotum, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeni... ORPHA:83628
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell car... ORPHA:2869
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Septate vagina, Unilateral renal agenes... ORPHA:2237
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of renal pelvis, Umbil... OMIM:312870
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... ORPHA:3378
Joubert Syndrome 18
Occipital encephalocele, Renal cyst, Horseshoe kidney OMIM:614815
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Joubert Syndrome 7
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Cryptorchidism, Decreased response to growth hormone stimulation test, Unilateral... OMIM:609757
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... OMIM:601076
White-Kernohan Syndrome
Hydroureter, Rectovaginal fistula, Hydronephrosis, Horseshoe kidney OMIM:619426
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... OMIM:146255
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Chand Syndrome
Hydroureter, Imperforate hymen ORPHA:1401
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis ORPHA:2083
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Splenopancr... OMIM:269150
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Hydroureter, Absence of Stensen duct, Decreased re... OMIM:129900
Meckel Syndrome, Type 10
Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Micropenis OMIM:614175
Meckel Syndrome, Type 5
Anencephaly, Occipital encephalocele, Bile duct proliferation, Renal cyst OMIM:611561
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... ORPHA:887
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Joubert Syndrome 37
Hydronephrosis, Cryptorchidism, Micropenis, Decreased testicular size OMIM:619185
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... ORPHA:158684
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Cryptorchidism, Meningocele, Abnormality of the ureter, Abnormal morphology of femal... ORPHA:2311
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Umbilical hernia, Neurogenic bladder, Hydronephrosis OMIM:619218
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... ORPHA:79403
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Axial Osteomalacia
Renal cyst OMIM:109130
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Hydronephrosis OMIM:620141
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Diphallia
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista... ORPHA:227
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Cryptorchidism, Hydroureter OMIM:610759
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Hydronephrosis ORPHA:531151
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation OMIM:603194
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C... ORPHA:261552
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Noonan Syndrome 4
Cryptorchidism, Ureteral duplication, Hydronephrosis OMIM:610733
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hypertrophy of the urinary bladder, Hydrocele testis, Unilateral renal dysplasia, Co... ORPHA:280633
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Absent nipple, Hydronephrosis, Ureteral triplication OMIM:104350
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Supernumerary nipple, Cryptorchidism, Bilateral renal age... OMIM:619194
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Anencephaly, Horseshoe ... OMIM:612284
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital ... ORPHA:369837
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... ORPHA:3109
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis, Renal d... ORPHA:96169
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation OMIM:611134
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias, Decreased response to growth hormone stimulation test OMIM:220210
Fanconi Anemia
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Spina bifida, ... ORPHA:84
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Ureteral agenesis, Bilateral renal... OMIM:617667
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... ORPHA:314588
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Meckel Syndrome, Type 3
Occipital encephalocele, Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... OMIM:263200
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... OMIM:617466
Vici Syndrome
Renal tubular acidosis, Ureteral atresia ORPHA:1493
Dextrocardia
Abnormal reproductive system morphology, Pancreatic hypoplasia, Abnormality of the ureter, Abnorm... ORPHA:1666
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abnormality of the ureter, Ovarian cyst, Bladder polyp, Precocious pube... OMIM:175200
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst ORPHA:480536
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... ORPHA:1988
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Cryptorchidism, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydrocele test... OMIM:614080
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... ORPHA:2473
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Verheij Syndrome
Branchial cyst, Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Suleiman-El-Hattab Syndrome
Cryptorchidism, Hydronephrosis OMIM:618950
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic fibrosis, Hepatic cysts, Pancreatic cysts, Ureteral atresia, Stag... OMIM:208540
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Trisomy 20P
Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ... ORPHA:261318
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Abnormal vagina morphology, Abnormality of the female genitalia... ORPHA:2315
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Hydro... ORPHA:49041
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C... ORPHA:2510
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Hydronephrosis OMIM:620327
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Meningocele, Renal cyst ORPHA:2031
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy... ORPHA:2075
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Uric acid nephro... OMIM:300661
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:85201
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... OMIM:301068
Alagille Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Spina bi... ORPHA:52
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... OMIM:216360
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Branchiootorenal Syndrome 1
Branchial cyst, Renal malrotation, Branchial fistula, Unilateral renal agenesis, Renal steatosis,... OMIM:113650
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Hydronephrosis ORPHA:364028
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien... ORPHA:93111
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Nephrotic range proteinuria, Urinary bladder inflammation, Rena... ORPHA:449395
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Spina bifida, Cryptorchidism, Horseshoe kidney, Hydronephro... ORPHA:99776
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:912
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology, Hydronephrosis, Abnormali... ORPHA:1655
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Bicornuate u... OMIM:265380
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Hypogonadism, Abnormality of the ureter ORPHA:3253
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, A... ORPHA:2636
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis, Hyd... OMIM:301056
Smith-Magenis Syndrome
Precocious puberty, Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/... ORPHA:819
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis ORPHA:457193
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Pelvic kidney, Hydronephrosis OMIM:613001
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Mesomelia-Synostoses Syndrome
Umbilical hernia, Hydronephrosis ORPHA:2496
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Renal cyst, Horseshoe kidney ORPHA:166035
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ... OMIM:601186
Interstitial Cystitis
Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a... ORPHA:37202
Intellectual Disability, Buenos-Aires Type
Umbilical hernia, Hydronephrosis ORPHA:3079
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Bicornuate uterus, Ap... OMIM:200980
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cryptorchidism, Large placenta, Abnormal pancreas morphology, Pseudohypopar... ORPHA:116
Cystic Echinococcosis
Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, Hepatic cysts ORPHA:400
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Rena... ORPHA:261494
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... ORPHA:2059
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Chromosome 2P16.1-P15 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Hypogonadism, Micropenis, Hydronephrosis OMIM:612513
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus... OMIM:135900
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydranencephaly, Hydronephrosis, Spina bifida ORPHA:2839
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Mosaic Trisomy 8
Vesicoureteral reflux, Cryptorchidism, Decreased testicular size, Hydronephrosis ORPHA:96061
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Meningocele,... ORPHA:991
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Meckel Syndrome
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreat... ORPHA:564
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Clitoral hypertrophy OMIM:616449
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:99880
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Micropenis, Hydronephrosis OMIM:617798
Gabriele-De Vries Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:143
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... OMIM:193300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, H... ORPHA:2273
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the ... ORPHA:96092
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Joubert Syndrome 2
Encephalocele, Renal insufficiency, Renal cyst, Nephronophthisis, Hypoplastic male external genit... OMIM:608091
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Clitoral hy... OMIM:214110
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Cryptorchidism, Micropenis, Pancreatic lymphangiectasis OMIM:235255
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Mody
Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Pancreatic hypoplasia ORPHA:552
Joubert Syndrome 14
Encephalocele, Meningocele, Renal cyst OMIM:614424
Attenuated Familial Adenomatous Polyposis
Uterine leiomyoma, Multiple renal cysts ORPHA:220460
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Abnormality of the ... ORPHA:847
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Thakker-Donnai Syndrome
Rectovaginal fistula, Hydronephrosis ORPHA:1780
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... OMIM:618454
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryp... OMIM:229850
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Umbilical hernia, Spina ... OMIM:235510
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Hydronephrosis OMIM:611209
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... OMIM:257300
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydroneph... OMIM:618653
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis ORPHA:250989
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Ureteral obstruction, Myelomeningocele, Hydronephrosis ORPHA:90652
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Joubert Syndrome 39
Occipital encephalocele, Polycystic kidney dysplasia OMIM:619562
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Umbilical hernia, Hydronephrosis OMIM:115470
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Hypogonadism, Hydr... ORPHA:261349
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma OMIM:191100
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis ORPHA:140
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Hydronephrosis OMIM:619269
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Cryptorchidism, Shawl scrotum, Umbilical hernia, Micropenis, Hydrone... OMIM:301040
Takenouchi-Kosaki Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Abnormality of the kidney, Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Hepatic cysts, Bicornuate uterus, Hypoplasia of t... ORPHA:79328
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydrone... ORPHA:2953
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Cryptorchidism, Aminoaciduria, Albuminuria, Renal cortical microcysts, Hydronephrosi... OMIM:214100
Meckel Syndrome 14
Ambiguous genitalia, Occipital encephalocele, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Cousin Syndrome
Hydranencephaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis OMIM:260660
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Abnormality of t... ORPHA:2745
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Early Infantile Epileptic Encephalopathy
Precocious puberty, Ureterocele, Umbilical hernia, Micropenis, Renal dysplasia ORPHA:1934
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Spina bifida, Pancreatic cysts, Dilatation of the renal ... OMIM:274000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Branchial anomaly, Vesicoureteral reflux, Abnormal bladder morphology, Hydronephr... ORPHA:453499
Poland Syndrome
Duplicated collecting system, Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidis... ORPHA:2911
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Vater/Vacterl Association
Renal dysplasia, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidn... OMIM:192350
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
2Q37 Microdeletion Syndrome
Umbilical hernia, Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple ORPHA:1001
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Hydronephrosis ORPHA:210122
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Hydronephrosis, Large placenta ORPHA:254528
Koolen-De Vries Syndrome
Vesicoureteral reflux, Cryptorchidism, Recurrent urinary tract infections, Hydronephrosis OMIM:610443
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi... ORPHA:464311
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis, Supernumerary nipple ORPHA:247262
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Pancreatic fibrosis, Proteinuria, Pancreatic cysts, Chronic kidney disease, ... OMIM:208500
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Knobloch Syndrome
Vesicoureteral reflux, Occipital encephalocele, Bifid ureter ORPHA:1571
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Trisomy 18
Spina bifida, Abnormality of the upper urinary tract, Cryptorchidism, Anencephaly, Abnormal morph... ORPHA:3380
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst OMIM:617260
Au-Kline Syndrome
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Lip... OMIM:616580
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Occipital encephalocele, Renal agenesis, External genital hypoplasia, ... OMIM:249000
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Unilateral breast hypoplasia, Hydronephrosis OMIM:300968
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Occipital encephalocele, Multicystic kidney dysplasia, Anencephaly, Mi... OMIM:615287
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... OMIM:122470
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Hydronephrosis, Cryptorchidism OMIM:300712
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Renal cyst, Polycystic kidney dysplasia, Umbilical hernia, Pancreatic hypoplasia OMIM:610199
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Paternal Uniparental Disomy Of Chromosome 5
Renal duplication ORPHA:96190
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia OMIM:616300
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Renal cortical cysts ORPHA:79323
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Renal cyst... ORPHA:464306
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Atelosteogenesis Type I
Multiple renal cysts, Abnormal pancreatic duct morphology ORPHA:1190
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria ORPHA:35687
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... OMIM:266920
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ure... ORPHA:1896
Distal Duplication 17Q
Vesicoureteral reflux, Cryptorchidism, Renal duplication ORPHA:3379
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy OMIM:212065
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Small scrotum, Hypospadias, Ureterocele OMIM:616734
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal ... OMIM:130650
Knobloch Syndrome 1
Duplicated collecting system, Occipital encephalocele, Spina bifida occulta, Occipital meningocel... OMIM:267750
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... OMIM:227646
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Prostatitis, Hydr... ORPHA:900
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Diamond-Blackfan Anemia 10
Renal duplication, Ectopic kidney OMIM:613309
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Distal Deletion 12Q
Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Annular pancreas, Polycystic kidney... ORPHA:96149
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Umbilical... ORPHA:2092
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic nipples, Polycystic kidney dysplasia, Renal ... OMIM:614866
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... ORPHA:168558
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... ORPHA:33001
Tarp Syndrome
Cryptorchidism, Hydronephrosis, Horseshoe kidney ORPHA:2886
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis OMIM:608779
Robinow Syndrome
Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypopla... ORPHA:97360
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... ORPHA:573278
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... ORPHA:289548
Joubert Syndrome 1
Nephropathy, Renal cyst, Occipital myelomeningocele OMIM:213300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis ORPHA:163979
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Nephrolithiasis, Hypoplastic labia majora, Nephrocalcinosis, Clitoral hypoplasia,... OMIM:268310
3Mc Syndrome 1
Spina bifida occulta, Hydronephrosis, Supernumerary nipple OMIM:257920
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Grade III ... OMIM:619522
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis OMIM:614921
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Aplasia/Hypoplasia of the fallo... ORPHA:96121
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Micropenis, Anencephaly, Polycystic kidney dysplasia OMIM:616546
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Nephroblastoma, Bifid uret... ORPHA:500095
Alveolar Echinococcosis
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst ORPHA:284
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the ... ORPHA:264450
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Perinea... ORPHA:2538
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... ORPHA:805
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... ORPHA:495875
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst... ORPHA:798
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Ab... ORPHA:538
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction OMIM:304150
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Cryptorchidism, Abnormality of female external genitalia, Spina ... ORPHA:235
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Cryptorchidism, Urachus fistula, Hypoplasia of the thymus, Hy... OMIM:612541
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly ORPHA:1393
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Umbilical hernia, Thyroid hypoplasia, Unilateral renal agenesis OMIM:308050
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Hyperechogenic kidneys, Renal cyst OMIM:615636
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Spina bifida occulta, Ureteral obstruction ORPHA:1826
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Ureteropelvic junction obstruction, Duplicated collecting system, Small scrotum, H... OMIM:270400
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... ORPHA:2044
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydronephrosis ORPHA:1340
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia OMIM:309800
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Occipital encephalocele ORPHA:1454
Apert Syndrome
Hydronephrosis, Cryptorchidism, Vaginal atresia OMIM:101200
Hajdu-Cheney Syndrome
Hypospadias, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia, Umbilical hernia OMIM:102500
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney ORPHA:464329
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Focal Dermal Hypoplasia
Ureteral duplication, Supernumerary nipple, Cryptorchidism, Myelomeningocele, Spina bifida occult... OMIM:305600
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Umbilical hernia, Hypoplastic ... ORPHA:1507
C Syndrome
Renal cortical cysts, Cryptorchidism, Clitoral hypertrophy OMIM:211750
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Annular pancreas OMIM:616975
Joubert Syndrome 5
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... OMIM:610188
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Hydrocele testis, Hypoplastic nipples, Umbilical hernia, Ureteropel... OMIM:280000
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Cutis Laxa, Autosomal Recessive, Type Ic
Umbilical hernia, Hypoplasia of the thymus, Hydronephrosis, Multiple bladder diverticula OMIM:613177
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor... ORPHA:818
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Schwartz-Jampel Syndrome
Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, Umbilical hernia, ... ORPHA:800
D-Bifunctional Protein Deficiency
Bile duct proliferation, Renal cyst OMIM:261515
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Adrenal gland dysgenesis, Abnormal vagina morphology, Hyd... OMIM:236680
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Ureteral duplication, Glycosuria, Umbilical hernia, Pancreatic hypoplasia OMIM:600001
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Renal hypoplasia OMIM:270100
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Aplasia/Hypoplasia of the gallbladder, Umbilical hernia, Pancreatic hypopla... ORPHA:2255
Monosomy 22Q13.3
Hydronephrosis, Vesicoureteral reflux, Umbilical hernia, Recurrent pyelonephritis, Renal dysplasia ORPHA:48652
Short-Rib Thoracic Dysplasia 12
Anencephaly, Renal hypoplasia, Hypoplastic nipples, Ambiguous genitalia, Cystic renal dysplasia OMIM:269860
Jacobsen Syndrome
Multicystic kidney dysplasia, Spina bifida, Cryptorchidism, Annular pancreas, Hydronephrosis ORPHA:2308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Renal cyst, Renal ... ORPHA:93271
Fraser Syndrome
Encephalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cry... ORPHA:2052
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Micropenis, Renal hypoplasia, Aplasia of the uterus OMIM:614083
Castleman Disease
Hematuria, Renal insufficiency, Ureteral obstruction ORPHA:160
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Uretero... ORPHA:506358
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital ... OMIM:136140
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Micropenis, Pancreatic fibrosis, Polycystic kidney dysplasia OMIM:263520
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363958
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Branchial anomaly, Vesicoureteral reflux, Hydronephrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Branchial anomaly, Vesicoureteral reflux, Hydronephrosis ORPHA:352665
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... ORPHA:2729
Cardiofaciocutaneous Syndrome 1
Hydronephrosis OMIM:115150
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret... ORPHA:857
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Mesomelia-Synostoses Syndrome
Short umbilical cord, Hydronephrosis OMIM:600383
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Horseshoe kidney, Micropenis, Labia... ORPHA:138
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Large placent... ORPHA:1662
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, Secondary hyperparathyr... ORPHA:2785
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism... OMIM:261540
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl... OMIM:606170
Restrictive Dermopathy 1
Ureteral duplication, Hydropic placenta, Hypospadias, Short umbilical cord OMIM:275210
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Myelomeningocele, Ovarian cyst, Polycystic kidney dysplasia, Hepat... OMIM:311200
Caroli Disease
Cholelithiasis, Polycystic kidney dysplasia ORPHA:53035
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... OMIM:107480
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Nephroblastoma, Multicystic kidney dysplasia, Vaginal neoplasm ORPHA:1052
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Vesicoureteral reflux, Abnormal salivary gla... ORPHA:2363
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... ORPHA:99429
Kabuki Syndrome 1
Crossed fused renal ectopia, Premature thelarche, Cryptorchidism, Micropenis, Anoperineal fistula... OMIM:147920
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Hypoplastic labia majora, Clitoral hypoplasia, Umbilical hernia, Micropenis, Hydr... OMIM:180700
Trisomy 10P
Absent gallbladder, Multiple renal cysts, Rectovaginal fistula, Abnormality of the kidney ORPHA:171929
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Horsesho... ORPHA:3310
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Renal insufficiency, Hypospadias, Supernumerary nipple, Meningocele, Ren... ORPHA:397715
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypoplasia, Hydroneph... ORPHA:83617
Roberts Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Clitoral hypertrophy ORPHA:3103
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Bernard-Soulier Syndrome
Partially duplicated kidney, Macroscopic hematuria ORPHA:274
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogona... ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the anterior pituitary, Vesicoureteral reflux,... ORPHA:438213
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Nephrotic syndrome, Umbilical hernia, Hydronephrosis OMIM:601776
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Nephrolithiasis, Abnormality of ... ORPHA:353281
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Meningocele, Aplasia of the uterus ORPHA:2879
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro... ORPHA:1596
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
C Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ... ORPHA:1308
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Hypoplastic labia ma... OMIM:134780
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Aplasia of the uterus,... OMIM:618280
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Pancreatic fibrosis, Decreased response to growth hormon... ORPHA:699
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancreatic cysts, O... ORPHA:731
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Parathyroi... OMIM:188400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Caroli Syndrome
Abnormal ductus choledochus morphology, Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Campomelic Dysplasia
Hypospadias, Spina bifida, Spinal dysraphism, Sex reversal, Hydronephrosis OMIM:114290
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Cryptorchidism, Proximal r... ORPHA:534
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sirenomelia, Nephrocalcin... ORPHA:79500
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Spina bifida, Cryptorchidism, Meningocele, Renal hypoplasia, Occ... ORPHA:567
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Syndromic Diarrhea
Hypoplasia of the thymus, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... ORPHA:3404
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Cranioectodermal Dysplasia 2
Renal insufficiency, Bile duct proliferation, Renal cyst OMIM:613610
Rubinstein-Taybi Syndrome 1
Hypospadias, Premature thelarche, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, Papilla... OMIM:180849
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Spina bifida occulta OMIM:300373
Hajdu-Cheney Syndrome
Umbilical hernia, Multiple renal cysts, Hypospadias ORPHA:955
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Small scrotum, Hydronephrosis OMIM:620330
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr... ORPHA:353277
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Cryptorchidi... ORPHA:199
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Micropenis OMIM:210710
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Cryptorchidism, Umbilical hernia, Hydronephrosis OMIM:304120
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Biliary hyperplasia, Hydrocele testis, Aminoacid... OMIM:619991
Johanson-Blizzard Syndrome
Hypospadias, Urethrovaginal fistula, Septate vagina, Cryptorchidism, Rectovaginal fistula, Hypopl... OMIM:243800
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Renal cyst, Ova... ORPHA:744
Ogden Syndrome
Global glomerulosclerosis, Cryptorchidism, Hydrocele testis, Polycystic kidney dysplasia, Umbilic... OMIM:300855
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypospadias, Hypogonadotropic hypogonadism, Decreased respons... ORPHA:3455
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... ORPHA:904
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C... ORPHA:261537
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Branchial anomaly OMIM:113620
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Cyst of the ductus choledochus, Renal dysplasia, Hypoplastic nipples ORPHA:480880
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... OMIM:308205
Mowat-Wilson Syndrome
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A... ORPHA:2152
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Frontal encephalocele, Horseshoe ... OMIM:268300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Dilatation of the renal pelvis, S... OMIM:619534
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Branchial ... OMIM:164210
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplastic labia m... OMIM:601803
Neu-Laxova Syndrome 1
Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Short umbilical cord, Small placenta,... OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus OMIM:194190
Viss Syndrome
Umbilical hernia, Hydronephrosis OMIM:619472
Pmm2-Cdg
Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating growth hormone concentration, Ne... ORPHA:79318
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... ORPHA:69085
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... ORPHA:286
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649

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 Lzts2

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 Lzts2.

No publications found that use IMPC mice or data for Lzts2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lzts2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lzts2tm115649(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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