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
abnormal brain morphology Lifrtm1b(EUCOMM)Hmgu HET Early adult 0.00

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Select physiological systems to view:
Viewing: all phenotypes
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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 0.54% (3 of 556)
aorta 0.18% (1 of 553)
bone 0.0%
brain 0.73% (4 of 551)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 538)
cerebellum 0.37% (2 of 539)
cerebral cortex 0.36% (2 of 550)
esophagus 1.82% (7 of 384)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 554)
hippocampus 0.56% (3 of 538)
hypothalamus 0.37% (2 of 544)
kidney 3.44% (19 of 553)
large intestine 1.77% (10 of 566)
liver 0.0%
lower urinary tract 0.18% (1 of 549)
lung 0.37% (2 of 546)
lymph node 0.18% (1 of 550)
mammary gland 0.0%
olfactory lobe 0.37% (2 of 545)
oral epithelium 0.0%
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.89% (5 of 562)
parathyroid gland 0.19% (1 of 517)
peripheral nervous system 0.36% (2 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 547)
prostate gland 2.03% (11 of 543)
skeletal muscle 0.0%
skin 0.18% (1 of 550)
small intestine 1.64% (9 of 550)
spinal cord 0.55% (3 of 542)
spleen 0.54% (3 of 553)
stomach 2.01% (11 of 548)
striatum 0.56% (3 of 537)
testis 0.92% (5 of 541)
thymus 0.18% (1 of 554)
thyroid gland 2.87% (16 of 558)
trachea 0.55% (3 of 544)
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 1.26% (5 of 396)
ear 0.25% (1 of 401)
embryo 0.25% (1 of 402)
eye 0.25% (1 of 408)
footplate 0.0%
forebrain 0.0%
forelimb 0.25% (1 of 406)
handplate 0.24% (1 of 413)
head 1.26% (5 of 397)
heart 0.0%
hindbrain 1.03% (4 of 388)
hindlimb 0.0%
liver 0.25% (1 of 402)
lung 0.25% (1 of 397)
mandibular process 0.25% (1 of 406)
maxillary process 0.25% (1 of 398)
midbrain 0.0%
oral cavity 0.24% (1 of 413)
skin 0.25% (1 of 406)
tail 0.26% (1 of 387)
tail somite group 0.25% (1 of 394)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

21 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Echo

M-Mode Images

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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, Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Cryptorchidism OMIM:202150
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Urofacial Syndrome 1
Cryptorchidism, Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infection... OMIM:236730
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 ureter, Abnormality of the upper urinary tract ORPHA:3266
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Micropenis, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, Mic... OMIM:615542
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Intrauterine growth retardation, Ureteral agenesis OMIM:274265
7P22.1 Microduplication Syndrome
Cryptorchidism, Abnormality of the kidney ORPHA:314034
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney d... OMIM:617805
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency OMIM:201310
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Meier-Gorlin Syndrome 8
Renal hypoplasia, Intrauterine growth retardation, Bilateral cryptorchidism OMIM:617564
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypogonadism, Renal insufficiency OMIM:618681
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the bladder, Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2547
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Bifid ureter, Horseshoe kidney, Decrea... OMIM:617641
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Microphallus, Decreased testicular size OMIM:614840
Prune Belly Syndrome
Cryptorchidism, Hydronephrosis, Congenital posterior urethral valve, Hydroureter, Urethral valve OMIM:100100
Macdermot-Winter Syndrome
Hydronephrosis, Intrauterine growth retardation, Hypoplastic male external genitalia OMIM:247990
Prune Belly Syndrome
Abnormality of the ureter, Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Multic... ORPHA:2970
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Nephrolithiasis, Decreased nu... OMIM:137920
Image Syndrome
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Hypospadias, Hypogonadism ORPHA:85173
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Epis... OMIM:600057
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal internal genitalia, Multicystic kidney dysplas... ORPHA:2973
Bresek Syndrome
Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Renal dysplasia, Hypoplasia of... ORPHA:85284
Retinitis Pigmentosa 59
Micropenis, Cryptorchidism, Intrauterine growth retardation, Renal insufficiency OMIM:613861
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst OMIM:228940
Meckel Syndrome 12
Renal agenesis, Ureteral hypoplasia, Intrauterine growth retardation, Renal hypoplasia, Vaginal a... OMIM:616258
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Neonatal death, Stillbirth OMIM:236500
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia OMIM:212780
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Noonan Syndrome 9
Cryptorchidism, Hydroureter OMIM:616559
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Megacystis, Hydroureter, Neonatal death, Fetal megacystis OMIM:619362
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Decreased te... ORPHA:1646
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Renal hypoplasia, Shawl scrotum, Hypoplasia of penis ORPHA:2256
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia OMIM:600151
Caudal Duplication
Ureteral duplication, Abnormal penis morphology, Cryptorchidism, Uterus didelphys, Renal hypoplas... ORPHA:1756
Nephronophthisis 13
Stage 5 chronic kidney disease, Pancreatic cysts, Renal hypoplasia, Nephronophthisis, Mild protei... OMIM:614377
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Ureteral atresia OMIM:183802
Wolfram Syndrome 1
Hydroureter, Hydronephrosis, Testicular atrophy, Neurogenic bladder OMIM:222300
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Intrauterine growth retardation OMIM:617093
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, St... OMIM:191800
Matthew-Wood Syndrome
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Abnormality ... ORPHA:2470
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1046
Fanconi Anemia, Complementation Group O
Renal cyst, Cryptorchidism, Hydronephrosis, External genital hypoplasia, Stage 5 chronic kidney d... OMIM:613390
Bifid Nose, Autosomal Dominant
Cryptorchidism OMIM:109740
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Joubert Syndrome 22
Renal hypoplasia, Intrauterine growth retardation OMIM:615665
Atresia Of Urethra
Hydronephrosis, Dilatation of the bladder, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Micropenis, Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum OMIM:264600
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hydronephrosis, Renal hypoplasia, Cryptorchidism OMIM:618494
Penoscrotal Transposition
Renal agenesis, Abnormality of the ureter, Shawl scrotum, Abnormal external genitalia, Renal dysp... ORPHA:2842
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Hydronephrosis, Megacystis OMIM:619431
Ochoa Syndrome
Cryptorchidism, Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal i... ORPHA:2704
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Urethral obstruction, Renal dysplasia, Hypertrophy of the urinary bladder OMIM:601389
Cloacal Exstrophy
Abnormality of the clitoris, Ectopic kidney, Horseshoe kidney, Renal hypoplasia/aplasia, Bladder ... ORPHA:93929
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Intrauterine growth retardation, Renal hypoplasi... ORPHA:195
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Cardiac Valvular Defect, Developmental
Hydronephrosis, Urethral diverticulum, Hydroureter OMIM:212093
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size OMIM:146110
Syndromic X-Linked Intellectual Disability 7
Micropenis, Hypoplasia of penis, Hypogonadism, Cryptorchidism ORPHA:85274
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Micropenis, Renal hypoplasia, Cryptorchidism, Hypospadias ORPHA:171839
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis ORPHA:2241
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Small scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Hydronephrosis, Vaginal atresia, Transverse vaginal septum,... OMIM:236700
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Renal insuf... ORPHA:223
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:614373
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Distal Trisomy 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia, Intrauterine growth retardation ORPHA:1745
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Renal hypoplasia, Pseudohypoparathyroidism, Vesicoureteral reflux ORPHA:464288
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micropenis, Microphallus, Cryptorchidism OMIM:218450
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Abnormality of the kidney, External genital hypoplasia, Hypogonadism OMIM:615982
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Urethral fistula, Unilateral r... ORPHA:49
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Cryptorchidism, Hypogonadism, Decreased testicular size OMIM:616030
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux OMIM:616854
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism OMIM:617796
Microphthalmia, Lenz Type
Hydroureter, Cryptorchidism, Hydronephrosis, Renal hypoplasia/aplasia, Hypospadias ORPHA:568
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication OMIM:602200
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Codas Syndrome
Hydroureter ORPHA:1458
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Cystic renal dysplasia, Abnormality of the kidney OMIM:613730
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Myopathy, Congenital, Progressive, With Scoliosis
Cryptorchidism, Hydronephrosis, Renal atrophy OMIM:618578
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Decreased response to growth hormone stimulation test, Intrauterine growth reta... OMIM:617784
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Cryptorchidism, ... ORPHA:3027
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydronephrosis, Multicystic kidney dysplasia, Ambiguous genitalia,... ORPHA:261344
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Abnormal morphology of female internal genitali... ORPHA:1926
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Bilateral cr... ORPHA:457083
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Renal hypoplasia, Hypoplasia of penis, Renal dysplasia, Renal insufficiency, Bifi... ORPHA:85321
Oeis Complex
Renal agenesis, Rectovaginal fistula, Micropenis, Hydronephrosis, Cryptorchidism, Bladder exstrop... OMIM:258040
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Familial Visceral Myopathy
Hydroureter, Hyperparathyroidism, Vesicoureteral reflux, Megacystis ORPHA:2604
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Proteinuria, Aplasia/hypoplasia of the uterus, Bilater... ORPHA:411709
Fraser Syndrome 2
Renal agenesis, Renal hypoplasia, Aplasia of the bladder, Ambiguous genitalia OMIM:617666
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Intrauterine growth retardation, Micropenis, Hydronephrosis, Renal hy... OMIM:146510
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Renal hypoplasia, Intrauterine growth retardation OMIM:616817
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Supernumerary nipple, Glomerulonephritis, Chronic tubulointerstiti... OMIM:614376
Hao-Fountain Syndrome
Micropenis, Cryptorchidism OMIM:616863
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, Broad femo... ORPHA:2114
Silver-Russell Syndrome 1
Abnormality of the ureter, Intrauterine growth retardation, Testicular seminoma, Congenital poste... OMIM:180860
Czeizel-Losonci Syndrome
Hydronephrosis, Ureteral agenesis, Hypoplastic nipples, Abnormality of the urinary system, Congen... ORPHA:2437
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
17Q12 Microdeletion Syndrome
Cryptorchidism, Shawl scrotum, Ureterocele, Multicystic kidney dysplasia, Pancreatic aplasia, Ren... ORPHA:261265
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Renal hypoplasia, Abnormality of the anterior pituitary, Intraute... ORPHA:75389
Faciocardiorenal Syndrome
Cryptorchidism, Horseshoe kidney, Hydroureter OMIM:227280
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
3Q13 Microdeletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Hypoplasia of penis ORPHA:1621
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormality of male internal genitalia, Bilateral cryptorchidism OMIM:261550
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Abnormality of the ureter, Hypoplasia of penis, Hypogonadism ORPHA:3409
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Intrauterine growth retardation, Renal hypoplasia, Decreased response to growth... OMIM:609053
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Renal hypoplasia, Aminoaciduria OMIM:617913
Burn-Mckeown Syndrome
Renal hypoplasia OMIM:608572
Cach Syndrome
Renal hypoplasia, Premature ovarian insufficiency, Gonadal dysgenesis, Intrauterine growth retard... ORPHA:135
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Nephroblas... OMIM:194072
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Micropenis, Small pituitary gland, Cryptorchidism, Decreased testicular size OMIM:614880
Ellis Van Creveld Syndrome
Hydroureter, Abnormality of the ureter, Intrauterine growth retardation, Renal hypoplasia/aplasia... ORPHA:289
Bladder Exstrophy
Abnormality of the clitoris, Abnormality of the ureter, Bladder exstrophy, Hypoplasia of penis, R... ORPHA:93930
Carpenter Syndrome 1
Cryptorchidism, Hydronephrosis, External genital hypoplasia, Precocious puberty, Hydroureter OMIM:201000
Emanuel Syndrome
Renal agenesis, Intrauterine growth retardation, Micropenis, Renal hypoplasia, Cryptorchidism OMIM:609029
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia, A... ORPHA:752
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hydronephrosis, Polyuria OMIM:304900
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Intrauterine growth retardation, Renal hypoplasia/aplasia, Abnormal ... ORPHA:2461
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Tetraploidy
Hydronephrosis, Intrauterine growth retardation, Renal hypoplasia/aplasia ORPHA:3305
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Gonadal dysgenesis, Polycystic ovaries, Renal hypoplasia/aplasia ORPHA:1770
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Pelvic kidney, Microphallus, D... OMIM:603467
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Duplication Of Urethra
Chordee, Unilateral renal hypoplasia, Dysuria, Uterus didelphys, Recurrent urinary tract infectio... ORPHA:237
Exstrophy-Epispadias Complex
Abnormality of the ureter, Horseshoe kidney, Bifid penis, Bladder fistula, Renal duplication, Ren... ORPHA:322
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal agenesis, Central diabetes insipidus, Hypogonadotropic hypogonadism, Bladder diverticulum, ... OMIM:604292
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Ureteral atresi... OMIM:614527
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fanconi Anemia, Complementation Group L
Micropenis, Renal hypoplasia, Intrauterine growth retardation OMIM:614083
Chromosome 18P Deletion Syndrome
Micropenis, Gonadal dysgenesis, Cryptorchidism, Decreased testicular size OMIM:146390
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Small scrotum, Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Hypoplasia of penis ORPHA:2083
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Renal dysplasia, Decreased testicular size OMIM:615287
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis OMIM:616973
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux, Hypoplastic labia majora OMIM:619217
Webb-Dattani Syndrome
Pituitary hypothyroidism, Cryptorchidism, Hydronephrosis, Neurogenic bladder, Decreased response ... OMIM:615926
Marden-Walker Syndrome
Intrauterine growth retardation, Micropenis, Renal hypoplasia, Cryptorchidism, Hypospadias OMIM:248700
Microphthalmia, Syndromic 9
Horseshoe kidney, Intrauterine growth retardation, Renal malrotation, Cryptorchidism, Hydronephro... OMIM:601186
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Small scrotum, Cryptorchidism, Hydronephrosis, Renal hypoplasia, Supernumerary nipple... OMIM:618454
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
46,Xy Sex Reversal 4
Hypoplastic labia majora, Hydronephrosis, Renal dysplasia, Gonadal dysgenesis, Ureteropelvic junc... OMIM:154230
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Varicocele, Unilateral renal hypoplasia, Acute kidney injury, Dysuria, Hydron... ORPHA:49041
12Q14 Microdeletion Syndrome
Renal hypoplasia, Ectopic kidney, Horseshoe kidney, Intrauterine growth retardation ORPHA:94063
Stankiewicz-Isidor Syndrome
Pineal cyst, Ureteral duplication, Micropenis, Cryptorchidism, Shawl scrotum, Hypospadias OMIM:617516
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Vesicoureteral reflux, Renal hypoplasia/aplasia, Multiple renal cysts ORPHA:1166
Oliver-Mcfarlane Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation t... OMIM:275400
Endocardial Fibroelastosis
Cryptorchidism OMIM:226000
Trisomy 13
Abnormality of the ureter, Intrauterine growth retardation, Abnormal morphology of female interna... ORPHA:3378
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis OMIM:244200
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Renal duplication, Hydronephrosis, Ureterocele, Renal dysplasia, Abnormalit... ORPHA:158684
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Hematuria, Renal duplication, Hydronephrosis, Ureterocele, Renal dy... ORPHA:79403
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Abnormal morphology of female internal genitalia, Hydronep... ORPHA:1834
46,Xy Sex Reversal 8
Cryptorchidism, Sex reversal, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Raine Syndrome
Neonatal death, Hydronephrosis, Hydroureter OMIM:259775
Congenital Disorder Of Glycosylation, Type Iig
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Renal insufficiency, Hypospadias OMIM:611209
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis, Decreased response to growth hormone stimulation test,... OMIM:609757
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Intrauterine growth retardation, Hypospadias OMIM:101805
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Increased u... ORPHA:3467
Joubert Syndrome 37
Micropenis, Hydronephrosis, Cryptorchidism, Decreased testicular size OMIM:619185
Toluene Embryopathy
Abnormal localization of kidney, Hydronephrosis, Cryptorchidism ORPHA:1920
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Intellectual Developmental Disorder, Autosomal Dominant 51
Cryptorchidism OMIM:617788
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Intrauterine growth retardation, Micropenis, Renal hyp... OMIM:616541
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2995
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Nephrocalcinosis OMIM:615633
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Cryptorchidism, Testicular seminoma, Renal insufficiency, Hypogonadism ORPHA:281090
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal agenesis, Central diabetes insipidus, Rectovaginal fistula, Bladder diverticulum, Hypogonad... OMIM:129900
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Diphallia
Ectopic scrotum, Horseshoe kidney, Bifid penis, Ureteral duplication, Renal malrotation, Renal du... ORPHA:227
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614091
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Ureteral duplication OMIM:270420
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Azoospermia, ... OMIM:614837
Aredyld Syndrome
Abnormality of the ureter, Intrauterine growth retardation ORPHA:1133
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Chand Syndrome
Imperforate hymen, Hydroureter ORPHA:1401
Severe Generalized Junctional Epidermolysis Bullosa
Renal cyst, Urinary retention, Dysuria, Hydronephrosis, Ureterocele, Multicystic kidney dysplasia... ORPHA:79404
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Emanuel Syndrome
Unilateral renal agenesis, Intrauterine growth retardation, Micropenis, Renal hypoplasia, Cryptor... ORPHA:96170
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Chromosome 15Q26-Qter Deletion Syndrome
Micropenis, Intrauterine growth retardation, Hypospadias, Cryptorchidism OMIM:612626
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Khan-Khan-Katsanis Syndrome
Hydronephrosis, Intrauterine growth retardation, Renal hypoplasia, Vesicoureteral reflux OMIM:618460
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Schinzel-Giedion Midface Retraction Syndrome
Hypoplastic labia majora, Ureteral stenosis, Small scrotum, Micropenis, Hydronephrosis, Hypoplast... OMIM:269150
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Cryptorchidism, Hydroureter OMIM:610759
Peutz-Jeghers Syndrome
Abnormality of the ureter, Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma,... ORPHA:2869
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Renal dysplasia, Neonatal deat... OMIM:266910
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias OMIM:616449
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Intrauterine growth retardation, Abnormal morphology of female in... ORPHA:887
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Hydronephrosis ORPHA:531151
Pseudotrisomy 13 Syndrome
Renal agenesis, Micropenis, Renal hypoplasia, Cryptorchidism, Bicornuate uterus OMIM:264480
Mehmo Syndrome
Micropenis, External genital hypoplasia, Hypoplasia of penis, Cryptorchidism ORPHA:85282
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Cryptorchidism, Supernumerary nipple, Bilateral renal agenesis, Hydrou... OMIM:619194
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Intrauterine growth retardation, Abnormal morphology of female interna... ORPHA:2311
White-Kernohan Syndrome
Hydronephrosis, Rectovaginal fistula, Horseshoe kidney, Hydroureter OMIM:619426
Noonan Syndrome 4
Cryptorchidism, Hydronephrosis, Ureteral duplication OMIM:610733
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism OMIM:300982
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Recurrent urinary tract infections, Neurogenic bladder OMIM:619218
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, 3-Methylglutaric aciduria OMIM:250951
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Pancreatic cysts, Bile duct proliferation, Polycystic kidney d... OMIM:208540
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size OMIM:614858
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Micropenis, Cryptorchidism, Abnormality of the ovary, True herma... ORPHA:199310
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Silver-Russell Syndrome 3
Cryptorchidism, Ambiguous genitalia, Hypospadias OMIM:616489
Ulnar-Mammary Syndrome
Cryptorchidism, Renal hypoplasia, Hypoplasia of penis, Abnormality of the uterus, Hypoplastic nip... ORPHA:3138
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Micropenis, Hypercalciuria, Cryptorchidism, Decreased response t... OMIM:614732
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hydronephrosis, Intrauterine growth retard... OMIM:220210
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:1381
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size OMIM:610628
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Duane-Radial Ray Syndrome
Renal agenesis, Horseshoe kidney, Renal malrotation, Crossed fused renal ectopia, Hydronephrosis,... OMIM:607323
Vici Syndrome
Renal tubular acidosis, Ureteral atresia ORPHA:1493
Fanconi Anemia
Absent testis, Intrauterine growth retardation, Renal hypoplasia/aplasia, Cryptorchidism, Azoospe... ORPHA:84
Peutz-Jeghers Syndrome
Abnormality of the ureter, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Ovarian ... OMIM:175200
Cockayne Syndrome Type 3
Unilateral renal agenesis, Urinary retention, Hydronephrosis, Renal hypoplasia, Hydroureter, Neur... ORPHA:90324
Van Maldergem Syndrome 2
Micropenis, Renal hypoplasia, Cryptorchidism, Bifid scrotum, Hypospadias OMIM:615546
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Micropenis, Cryptorchi... ORPHA:755
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Spinal Muscular Atrophy, X-Linked 2
Micropenis, Hypospadias, Cryptorchidism OMIM:301830
Koolen-De Vries Syndrome
Renal duplication, Ureteral duplication, Cryptorchidism, Hydronephrosis, Hypospadias, Vesicourete... ORPHA:96169
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Erlenmeyer flask deformity of the femurs, Increased susc... ORPHA:210110
Isolated Hemihyperplasia
Cryptorchidism, Nephroblastoma ORPHA:2128
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia OMIM:616300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydronephrosis, Unilateral renal dysplasia, Hydroureter, Hydrocele testis, Abnormal renal collect... ORPHA:280633
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Ambiguous genitalia, male, Testicular dysgenesis, Partial deve... OMIM:608800
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, Endometrial carcinoma ORPHA:457212
Diethylstilbestrol Syndrome
Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Omodysplasia 2
Micropenis, Hypospadias, Cryptorchidism OMIM:164745
Laurence-Moon Syndrome
Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency ORPHA:2377
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Stt3B-Cdg
Micropenis, Small scrotum, Intrauterine growth retardation, Cryptorchidism ORPHA:370924
Androgen Insensitivity, Partial
Perineal hypospadias, Micropenis, Cryptorchidism, Azoospermia, Male pseudohermaphroditism, Bifid ... OMIM:312300
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Premature ovarian insufficiency, Hypogonadism, Decreased testicular size ORPHA:261483
Rauch-Steindl Syndrome
Bilateral renal hypoplasia, Hyperechogenic kidneys, Intrauterine growth retardation OMIM:619695
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Renal cyst, Nephrocalcinosis, Hypercalciuria, Renal dysplasia, Precocious puberty, Hypoparathyroi... ORPHA:369837
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Intrauterine growth retardation, Hypospadias OMIM:616910
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Cryptorchidism, Hydronephrosis, Supernumerary nipple, Hypoplasia of penis, ... ORPHA:373
Distal Tetrasomy 15Q
Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Abnormal external genitalia, D... ORPHA:314588
Igg4-Related Kidney Disease
Urinary bladder inflammation, Sialadenitis, Enlarged kidney, Abnormal ureter morphology, Abnormal... ORPHA:449395
Alagille Syndrome
Abnormality of the ureter, Nephrotic syndrome, Intrauterine growth retardation, Cryptorchidism, R... ORPHA:52
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Absent nipple, Ureteral triplication OMIM:104350
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Small scrotum, Intrauterine growth retardation, Cryptorchidism OMIM:615597
Micro Syndrome
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Clitoral hypoplasia, Hypoplastic... ORPHA:2510
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Hypopl... OMIM:601076
Borjeson-Forssman-Lehmann Syndrome
Micropenis, Cryptorchidism, Hypoplasia of the prostate OMIM:301900
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Cryptorchidism, Unilateral renal atrophy, Oligospermia, Renal dysplasia, Nephritis OMIM:314300
Intellectual Disability, Wolff Type
Cryptorchidism, Hypospadias ORPHA:3080
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Ureteral duplication, Hydronephrosis, Renal dysplasia, Bladder trabeculation... OMIM:614080
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Cornelia De Lange Syndrome 1
Hypoplastic labia majora, Ectopic kidney, Renal cyst, Reduced renal corticomedullary differentiat... OMIM:122470
Ichthyosis, X-Linked
Cryptorchidism OMIM:308100
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism, Renal hypoplasia/aplasia ORPHA:2863
Autosomal Recessive Amelia
Cryptorchidism, Small scrotum, Hypoplasia of penis ORPHA:1027
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Intrauterine growth retardation, Cryptorchidism, Glutaric aciduria, Hy... OMIM:610198
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Cryptorchidism, Stage 5... OMIM:617575
Dextrocardia
Abnormal reproductive system morphology, Abnormality of the ureter, Pancreatic hypoplasia, Abnorm... ORPHA:1666
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Penile hypospadias, Glandular hypospadias, Micropenis, Cryptorchidism, Penoscrotal hypospadias, B... ORPHA:456328
Wagr Syndrome
Cryptorchidism, Ambiguous genitalia, Displacement of the urethral meatus ORPHA:893
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Intrauterine growth retardation, Hypoplasia of penis ORPHA:2772
Scalp-Ear-Nipple Syndrome
Pyelonephritis, Ureteral duplication, Abnormality of the kidney, Duplication of renal pelvis, Rec... ORPHA:2036
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Micropenis, Small pituitary gland, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612702
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal agenesis, Renal cyst, Small scrotum, Intrauterine growth retarda... OMIM:270400
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Testicular ... OMIM:308750
Lumbar Syndrome
Renal agenesis, Hypoplastic labia majora, Renal duplication, Micropenis, Cryptorchidism, Bladder ... ORPHA:83628
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Abnormality of the kidney, Abnor... ORPHA:2636
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Hypospadias, Cryptorchidism OMIM:618815
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Proximal renal tubular acidosis, Intrauterine growth retardation OMIM:615824
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis... OMIM:308700
Scalp-Ear-Nipple Syndrome
Renal agenesis, Pyelonephritis, Renal hypoplasia, Breast aplasia, Renal insufficiency OMIM:181270
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Mosaic Trisomy 14
Cryptorchidism, Hypospadias, Hypoplasia of penis ORPHA:1703
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Abnormality of the kidney, Abnormal lo... ORPHA:261318
Suleiman-El-Hattab Syndrome
Cryptorchidism, Hydronephrosis OMIM:618950
Abruzzo-Erickson Syndrome
Abnormal localization of kidney, Coronal hypospadias, Hypospadias, Cryptorchidism ORPHA:921
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Stt3A-Cdg
Micropenis, Small scrotum, Cryptorchidism ORPHA:370921
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Non-Distal Trisomy 10Q
Cryptorchidism, Abnormality of the urinary system ORPHA:1695
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias ORPHA:314679
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Intrauterine growth retardation, Hydronephrosis, Abnormal va... ORPHA:2315
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Polycystic kidney dysplasia, Long-chain di... OMIM:608836
Hardikar Syndrome
Hydroureter, Pyelonephritis, Bile duct proliferation, Hydronephrosis, Bladder exstrophy, Recurren... OMIM:301068
Poland Syndrome
Cryptorchidism, Renal hypoplasia, Hypospadias, Ureterocele, Duplicated collecting system, Renal h... ORPHA:2911
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias OMIM:618109
Mckusick-Kaufman Syndrome
Glandular hypospadias, Cryptorchidism, Hydronephrosis, Multicystic kidney dysplasia, Hydrometroco... ORPHA:2473
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydronephrosis, Pelvic kidney OMIM:613001
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Renal hypoplasia, Small scrotum, Anterior pituitary hypoplasia ORPHA:264200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Intrauterine growth retardation, Micropenis, Hydronephrosis, Cryptorchidism, Hypospadias, Duplica... OMIM:301056
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis, Cryptorchidism, Hypogonadism, Decreased testicular size OMIM:612513
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Bifid ureter, Vesicoureteral reflux, Ureteral duplication, Decreased testicular size OMIM:601347
Netherton Syndrome
Hydronephrosis, Ectopic kidney, Aminoaciduria ORPHA:634
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, Horseshoe kidney, Intrauterine growth retardation, Hypoplastic male external geni... ORPHA:502434
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Baller-Gerold Syndrome
Abnormality of the ureter, Intrauterine growth retardation, Hydronephrosis, Abnormal localization... ORPHA:1225
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the bladder, Hydronephrosis, Dilatation of the renal pelvis, Neonatal death, Hydrou... OMIM:265380
Toriello-Lacassie-Droste Syndrome
Abnormality of the ureter, Abnormal penis morphology, Epispadias, Abnormality of the bladder, Hyp... ORPHA:3339
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis, Cryptorchidism ORPHA:364028
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Intrauterine growth retardation, Renal hypoplasia, Hypoplastic nipples, N... OMIM:269860
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Microcephaly 27, Primary, Autosomal Dominant
Micropenis, Cryptorchidism OMIM:619180
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Horseshoe kidney, Hypospadias OMIM:218350
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cryptorchidism, Ambiguous genitalia, Small scrotum, Hypoplasia of penis ORPHA:168593
Genitopatellar Syndrome
Small scrotum, Cryptorchidism, Hydronephrosis, Multicystic kidney dysplasia, Clitoral hypertrophy ORPHA:85201
Chromosome 3Q13.31 Deletion Syndrome
Micropenis, Shawl scrotum, Cryptorchidism, Decreased testicular size OMIM:615433
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Bicornuate uterus, Vesicoureteral reflux, Ambiguous genitalia, female OMIM:606408
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type