Gene Summary

Name:
LIF receptor alpha
Synonyms:
soluble differentiation-stimulating factor receptor,  A230075M04Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Lifrtm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased exploration in new environment Lifrtm1b(EUCOMM)Hmgu HET Early adult 2.79×10-07
abnormal brain morphology Lifrtm1b(EUCOMM)Hmgu HET Early adult 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote Not available
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote Not available
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

21 Images

Echo

M-Mode Images

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis OMIM:274265
7P22.1 Microduplication Syndrome
Abnormality of the kidney, Cryptorchidism ORPHA:314034
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Meier-Gorlin Syndrome 8
Intrauterine growth retardation, Nephroptosis, Unilateral renal hypoplasia, Bilateral cryptorchidism OMIM:617564
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ureterocele
Ureterocele, Duplicated collecting system OMIM:191650
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the bladder, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis ORPHA:2547
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Hydronephrosis, Congenital posterior urethral valve OMIM:100100
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:614840
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Macdermot-Winter Syndrome
Intrauterine growth retardation, Hypoplastic male external genitalia, Hydronephrosis OMIM:247990
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Hypospadias, Multiple glomerular cysts, Unilateral renal agenesis, Abn... OMIM:137920
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus, Ambiguous genitalia, Cryptorchi... OMIM:615542
Nephronophthisis 13
Nephronophthisis, Multilamellation of medullary peritubular capillary basement membranes, Glomeru... OMIM:614377
Image Syndrome
Hypospadias, Hydronephrosis, Hypogonadism, Intrauterine growth retardation, Cryptorchidism ORPHA:85173
Bladder Exstrophy And Epispadias Complex
Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe ... OMIM:600057
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... ORPHA:2973
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Hydronephrosis, Hypogonadism, Vaginal atresia, Cystic renal dysplasia OMIM:615989
Bresek Syndrome
Vesicoureteral reflux, Renal dysplasia, Decreased testicular size, Renal hypoplasia, Neonatal dea... ORPHA:85284
Bardet-Biedl Syndrome 19
External genital hypoplasia, Renal hypoplasia, Hydronephrosis, Hypogonadism, Renal insufficiency OMIM:615996
Noonan Syndrome 9
Cryptorchidism, Hydroureter OMIM:616559
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Neonatal death, Fetal megacystis OMIM:619362
Microcephaly 20, Primary, Autosomal Recessive
Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at... OMIM:617914
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia OMIM:600151
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstructive azoospermia... ORPHA:1646
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Caudal Duplication
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus didelphys, Abnormal penis ... ORPHA:1756
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Meckel Syndrome 12
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Intrauterine gr... OMIM:616258
Wolfram Syndrome 1
Neurogenic bladder, Hydronephrosis, Hydroureter, Testicular atrophy OMIM:222300
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Shawl scrotum, Cryptorchidism, Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal dysplasia OMIM:236500
Joubert Syndrome 22
Intrauterine growth retardation, Renal hypoplasia OMIM:615665
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Renal hypoplasia, Ab... ORPHA:2470
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis OMIM:264600
Cloacal Exstrophy
Renal hypoplasia/aplasia, Abnormal clitoris morphology, Ectopic kidney, Abnormal fallopian tube m... ORPHA:93929
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R... ORPHA:2842
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Cat-Eye Syndrome
Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization ... ORPHA:195
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Hypogonadism, Hypoplasia of penis ORPHA:85274
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis ORPHA:171839
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Renal cyst, Hydronephrosis, Neonatal death, Stage 5 chronic kidney d... OMIM:613390
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... OMIM:236700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Cryptorchidism, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Even-Plus Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia OMIM:616854
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf... ORPHA:223
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... ORPHA:753
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Renal hypoplasia, Cryptorchidism, Vesicoureteral reflux ORPHA:464288
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Intellectual Developmental Disorder, Autosomal Dominant 72
Shawl scrotum, Micropenis, Renal hypoplasia OMIM:620439
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Distal Duplication 6P
Intrauterine growth retardation, Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism ORPHA:568
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Fanconi Anemia, Complementation Group W
Intrauterine growth retardation, Renal hypoplasia, Decreased response to growth hormone stimulati... OMIM:617784
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Testicular seminoma, Abnormal... OMIM:180860
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr... ORPHA:457083
Codas Syndrome
Hydroureter ORPHA:1458
Hao-Fountain Syndrome
Cryptorchidism, Micropenis OMIM:616863
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia OMIM:276950
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... ORPHA:3027
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Shawl scrotum, Cr... ORPHA:261265
Congenital Myopathy 19
Cryptorchidism, Hydronephrosis, Renal atrophy OMIM:618578
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea... OMIM:614376
Renal Agenesis
Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena... ORPHA:411709
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Small scrotum, Ambiguous genitalia, Cryptorchidism, Multic... ORPHA:261344
Familial Visceral Myopathy
Megacystis, Vesicoureteral reflux, Hydroureter, Hyperparathyroidism ORPHA:2604
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Aminoaciduria, Renal hypoplasia, Lacticaciduria OMIM:604273
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Cryptorchidism, Micropenis, Abnor... ORPHA:1926
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Czeizel-Losonci Syndrome
Congenital megaureter, Hypoplastic nipples, Ureteral agenesis, Hydronephrosis, Abnormality of the... ORPHA:2437
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Labial hypoplasia, Pelvic kidney, Vesico... OMIM:300707
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Intrauterine growth retardation, Renal hypoplasia, Cryptorchidism OMIM:616817
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Bifid scrotum, Renal hypoplasia, Renal dysplasia, Cryptorchidism, Renal insu... ORPHA:85321
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A... ORPHA:2114
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Posterior pituitary hypoplasia, Abnormality of the anterior pitu... ORPHA:75389
3Q13 Microdeletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Hypoplasia of penis ORPHA:1621
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Panhypopituit... OMIM:146510
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R... ORPHA:237
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Cryptorchidism, Unilateral renal agenesis, Hydronephrosis OMIM:618494
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Hypogonadotropic hypogonadism, A... ORPHA:752
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death, Renal dysplasia... OMIM:614922
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Intrauterine growth retardation, Renal cyst OMIM:615583
Cach Syndrome
Intrauterine growth retardation, Gonadal dysgenesis, Renal hypoplasia ORPHA:135
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Shawl scrotum, Cryptorchidism, Micropenis, Pineal cyst OMIM:617516
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis OMIM:202150
Carpenter Syndrome 1
External genital hypoplasia, Hydroureter, Precocious puberty, Hydronephrosis, Cryptorchidism OMIM:201000
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th... OMIM:617666
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:3409
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Vesicoureteral ... OMIM:609053
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Cryptorchidism, Renal insufficiency, Proteinuria ORPHA:1307
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:289
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Amyloidosis, Finnish Type
Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis... OMIM:105120
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Bladder Exstrophy
Epispadias, Abnormal clitoris morphology, Hypoplasia of penis, Recurrent urinary tract infections... ORPHA:93930
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Neonatal death, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Tetraploidy
Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Renal hypoplasia, Hypogonadism ORPHA:254913
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pelvic kidney, Vesicoureteral reflux, Micr... OMIM:603467
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries, Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:1770
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Intrauterine growth ret... OMIM:617595
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen... ORPHA:322
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ... OMIM:614527
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:146110
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis, Small scrotum, Cryptorchidism, Intrauterine growth retardation ORPHA:2083
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis, Hypoplastic labia majora OMIM:619217
Retinitis Pigmentosa 59
Intrauterine growth retardation, Cryptorchidism, Micropenis, Renal insufficiency OMIM:613861
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Microphthalmia, Syndromic 9
Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hydronephrosis, Neonatal deat... OMIM:601186
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Transverse vaginal septum, Decreased response to growth hormone stimulation test, Absence of Sten... OMIM:604292
12Q14 Microdeletion Syndrome
Intrauterine growth retardation, Renal hypoplasia, Horseshoe kidney, Ectopic kidney ORPHA:94063
Marden-Walker Syndrome
Hypospadias, Renal hypoplasia, Intrauterine growth retardation, Cryptorchidism, Micropenis OMIM:248700
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure... OMIM:154230
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Unilateral renal agenesis,... OMIM:609757
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Dysuria, Nephrotic syndrome, V... ORPHA:49041
Emanuel Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal hypoplasia, Intrauterine gro... OMIM:609029
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:275400
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract ORPHA:2995
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy... ORPHA:3378
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Micropenis, Hydronephrosis OMIM:619185
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren... ORPHA:158684
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Cryptorchidism, Renal insufficiency ORPHA:281090
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Transverse vaginal septum, Decreased response to growth hormone stimulation test, Absence of Sten... OMIM:129900
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... ORPHA:79403
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Hyposthenuria, Anterior pituitary hypoplas... OMIM:615926
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Nephrocalcinosis OMIM:615633
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Intrauterine growth retardation, Cry... OMIM:616541
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Red... ORPHA:84081
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis OMIM:278300
Hereditary Orotic Aciduria
Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter ORPHA:30
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis, Cryptorchidism, Supernumerary n... OMIM:619194
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Aredyld Syndrome
Intrauterine growth retardation, Abnormality of the ureter ORPHA:1133
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Chromosome 15Q26-Qter Deletion Syndrome
Intrauterine growth retardation, Cryptorchidism, Micropenis, Hypospadias OMIM:612626
Fraser Syndrome 3
Stillbirth, Hypoplasia of penis, Bilateral renal agenesis, Hypoplasia of the bladder, Ureteral ag... OMIM:617667
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Renal duplication, Rectovaginal fistula OMIM:270420
White-Kernohan Syndrome
Hydronephrosis, Hydroureter, Horseshoe kidney, Rectovaginal fistula OMIM:619426
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism OMIM:300982
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Cryptorchidism, Hydroureter OMIM:610759
Stuve-Wiedemann Syndrome 2
Stillbirth, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolescence, Neona... OMIM:619751
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:618504
Chand Syndrome
Hydroureter, Imperforate hymen ORPHA:1401
Raine Syndrome
Hydronephrosis, Hydroureter, Neonatal death OMIM:259775
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Hypogonadism, Intrauterine growth retardation, Crypt... ORPHA:96170
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis, Intrau... OMIM:618460
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Splen... OMIM:269150
Diphallia
Penoscrotal transposition, Epispadias, Renal malrotation, Ureteral duplication, Bifid penis, Hypo... ORPHA:227
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Hydronephrosis ORPHA:531151
Vacterl/Vater Association
Hypospadias, Ectopic kidney, Hypoplasia of penis, Bifid scrotum, Renal agenesis, Hydronephrosis, ... ORPHA:887
Phakomatosis Pigmentokeratotica
Pheochromocytoma, Renal transitional cell carcinoma, Precocious puberty, Nephroblastoma, Cryptorc... ORPHA:2874
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:244200
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Micropenis, Hypogonadism ORPHA:3363
Congenital Myopathy 17
Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction OMIM:618975
Mehmo Syndrome
Cryptorchidism, External genital hypoplasia, Micropenis, Hypoplasia of penis ORPHA:85282
Peutz-Jeghers Syndrome
Renal cell carcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cyst... ORPHA:2869
Tetrasomy 15Q26
Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney OMIM:614846
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:614858
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Noonan Syndrome 4
Cryptorchidism, Ureteral duplication, Hydronephrosis OMIM:610733
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter, Intrauterine growth retardation, Cryptorchidism, Abnormal... ORPHA:2311
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cryptorchidism OMIM:250951
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Pseudotrisomy 13 Syndrome
Bicornuate uterus, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis OMIM:264480
Isolated Hemihyperplasia
Nephroblastoma, Cryptorchidism ORPHA:2128
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis OMIM:620327
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus... ORPHA:2237
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ... ORPHA:280633
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Uri... ORPHA:90324
Ulnar-Mammary Syndrome
Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Renal hypoplasia, Abnormality of the ut... ORPHA:3138
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Fanconi Anemia
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnormal preputium morphology, Azoospermia, A... ORPHA:84
Duane-Radial Ray Syndrome
Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, Hydronephrosis, Crossed fused renal ecto... OMIM:607323
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Hydroneph... OMIM:220210
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypospadias, Hypoplasia of penis ORPHA:1381
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Small scrotum,... OMIM:618454
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, Intrauterine... ORPHA:314588
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
Vici Syndrome
Ureteral atresia, Renal tubular acidosis ORPHA:1493
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Endometrial carcinoma, Ureteral duplication ORPHA:457212
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... ORPHA:755
Reni Syndrome
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Diffuse... OMIM:617575
Intermediate Osteopetrosis
Anemia, Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Recurr... ORPHA:210110
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication, Cryp... ORPHA:96169
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Bifid scrotum, Male pseudohermaphroditism, Cryptorchidism, Hypo... OMIM:312300
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Renal insufficiency, Polycystic kidney dysplasia, Bile ... OMIM:208540
Laurence-Moon Syndrome
Renal insufficiency, Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis ORPHA:2377
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Testicular ... OMIM:308750
Rauch-Steindl Syndrome
Intrauterine growth retardation, Hyperechogenic kidneys, Bilateral renal hypoplasia OMIM:619695
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Precocious puberty, Nephro... ORPHA:369837
Micro Syndrome
Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia, Hydronephrosis, Abnormal loca... ORPHA:2510
Stt3B-Cdg
Small scrotum, Cryptorchidism, Micropenis, Intrauterine growth retardation ORPHA:370924
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Aminoaciduria OMIM:617913
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Cryptorchidism, Nephropathy, Proteinuria ORPHA:1192
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Urethral diverticulum OMIM:212093
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Neonatal death, Urethral atresia OMIM:314390
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis... ORPHA:373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Renal dysplasia... OMIM:614080
Alagille Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Intrauterine growth reta... ORPHA:52
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Absent nipple, Hydronephrosis OMIM:104350
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Urethral diverticulum, Displacement of the urethral meatus, Ventral shortening of ... ORPHA:95706
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Micropenis, Intrauterine growth retardation OMIM:615597
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl... OMIM:601076
22Q11.2 Duplication Syndrome
Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis ORPHA:1727
Suleiman-El-Hattab Syndrome
Cryptorchidism, Hydronephrosis OMIM:618950
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Prostatitis, Urethritis, Renal interstitial immunoglobulin ... ORPHA:449395
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis, Duplicated collecting system OMIM:620071
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Oligozoospermia, Nephritis, Renal dysplasia, Cryptorchidism, Pyelonephr... OMIM:314300
Cornelia De Lange Syndrome 1
Hypospadias, Ectopic kidney, Abnormal renal morphology, Hypoplastic male external genitalia, Hypo... OMIM:122470
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Midshaft hypospadias, Cryptorchidism, Anterior hypopituitarism ORPHA:2863
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Cryptorchidism, Hyperu... OMIM:300661
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Cryptorchidism, Hypospadias OMIM:620135
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism OMIM:616300
Van Maldergem Syndrome 2
Hypospadias, Hypoplastic nipples, Bifid scrotum, Renal hypoplasia, Cryptorchidism, Micropenis OMIM:615546
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, Intrauterine ... OMIM:614732
Autosomal Recessive Amelia
Small scrotum, Cryptorchidism, Hypoplasia of penis ORPHA:1027
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, Penile hypospadias, ... ORPHA:456328
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias OMIM:618815
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Dextrocardia
Abnormal renal morphology, Pancreatic hypoplasia, Abnormal reproductive system morphology, Abnorm... ORPHA:1666
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Mosaic Trisomy 14
Cryptorchidism, Hypospadias, Hypoplasia of penis ORPHA:1703
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Cryptorchidism, Hypospadias OMIM:616910
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Cryptorchidism, Hypospadias OMIM:300997
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Hydronephrosis, Intrauterine gr... OMIM:301056
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:2772
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Small pituitary gland OMIM:614880
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Intrauterine growth retardati... OMIM:614083
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Testicular atrophy, Decreased testicular size, Small scro... OMIM:308700
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, I... ORPHA:2636
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Abnormality of the ureter, ... OMIM:175200
Ichthyosis, Congenital, Autosomal Recessive 4B
Failure to thrive, Neonatal death, Death in infancy OMIM:242500
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenos... ORPHA:261290
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Ureteral duplication, Breast aplasia, Recurrent urinary tract infectio... ORPHA:2036
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydr... ORPHA:2473
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Micropenis OMIM:619180
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:610628
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Hydronephrosis ORPHA:364028
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Bifid uterus, Renal duplicatio... ORPHA:83628
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Abruzzo-Erickson Syndrome
Cryptorchidism, Coronal hypospadias, Hypospadias, Abnormal localization of kidney ORPHA:921
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology... ORPHA:2315
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias ORPHA:314679
Stromme Syndrome
Stillbirth, Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Stt3A-Cdg
Small scrotum, Cryptorchidism, Micropenis ORPHA:370921
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Vesicoureteral reflux, Bile duct proliferation, ... OMIM:301068
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... OMIM:608836
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Chromosome 2P16.1-P15 Deletion Syndrome
Decreased testicular size, Hydronephrosis, Hypogonadism, Intrauterine growth retardation, Cryptor... OMIM:612513
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Hydronephrosis, Micropenis, Hypospadias OMIM:616897
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Hydroureter, Hypospadias, Dilatation of the bladder, Bicornuate uterus, Hydrone... OMIM:265380
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Precocious puberty, Hypogonadism, Cryptorchidism ORPHA:3306
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Intrauterine growth retardation, Hypoplastic male external genitalia, Cryptorchidism, Horseshoe k... ORPHA:502434
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney... ORPHA:1225
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology OMIM:611890
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Horseshoe kidney, Hypospadias OMIM:218350
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Ectopic kidney ORPHA:401935
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Small pituitary gland OMIM:612702
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Renal hypoplasia, Neonatal death, Intrauterine growth retardation, Ambiguous... OMIM:269860
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Cryptorchidism, Hydronephrosis OMIM:613001
Poland Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Urete... ORPHA:2911
Smith-Magenis Syndrome
Precocious puberty, Abnormal localization of kidney, Renal hypoplasia/aplasia, Abnormality of the... ORPHA:819
Andersen-Tawil Syndrome
Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Renal hypoplasia, Vesicoureteral reflux, Unilateral renal agenesis OMIM:620654
14Q22Q23 Microdeletion Syndrome
Small scrotum, Renal hypoplasia, Anterior pituitary hypoplasia, Cryptorchidism ORPHA:264200
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad... OMIM:620501
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Toriello-Lacassie-Droste Syndrome
Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Abnormal penis mo... ORPHA:3339
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:168593
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis ORPHA:457193
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Increased... ORPHA:163971
Heterotaxy, Visceral, 5, Autosomal