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Gene: Maz MGI:1338823

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Gene Summary

Name:
MYC-associated zinc finger protein (purine-binding transcription factor)
Synonyms:
PUR1,  Pur-1,  SAF-2,  SAF-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Mazem1(IMPC)Ics HET   Early adult 3.66×10-05
abnormal head morphology Mazem1(IMPC)Ics HET Early adult 5.28×10-05
decreased exploration in new environment Mazem1(IMPC)Ics HET Early adult 7.54×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Human diseases caused by Maz mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Holzgreve Syndrome
Renal agenesis, Hypoplastic left heart, Renal hypoplasia OMIM:236110
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Intrauterine growth retardation, Nephroptosis, Bilateral cryptorchidism OMIM:617564
Lessel-Kubisch Syndrome
Hypogonadism, Renal insufficiency, Short stature, Renal hypoplasia OMIM:618681
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism, Renal agenesis OMIM:219050
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atresia, Bilateral renal agenesis, Hyp... OMIM:618845
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, H... OMIM:617661
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo... OMIM:615996
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Autosomal Recessive Primary Microcephaly
Growth delay, Short stature, Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Renal h... OMIM:614377
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Stillbirth, Renal agenesis, Abnormal heart morphology ORPHA:294975
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... OMIM:618142
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Short stature, Unilateral renal agenesis, Ectopic kidney, Azoospermia OMIM:601076
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Short stature, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Test... ORPHA:281090
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Cryptorchidism, Vesicoureteral reflux, Rena... ORPHA:85284
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Radial-Renal Syndrome
Short stature, Unilateral renal agenesis, Ectopic kidney OMIM:179280
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Short stature, Renal hypoplasia, Atrial septa... OMIM:612946
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis OMIM:618504
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Burn-Mckeown Syndrome
Ventricular septal defect, Short stature, Unilateral renal agenesis, Renal hypoplasia, Atrial sep... OMIM:608572
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia, Abnormal heart morphology OMIM:276950
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... OMIM:244200
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Ventricular septal defect, U... OMIM:613680
Even-Plus Syndrome
Recurrent urinary tract infections, Severe short stature, Vesicoureteral reflux, Renal hypoplasia... OMIM:616854
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Abnor... ORPHA:2260
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Growth delay, Hypogonadism,... ORPHA:3306
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Renal agenesis OMIM:274265
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... OMIM:618494
Spastic Paraplegia 13, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:605280
Joubert Syndrome 22
Intrauterine growth retardation, Renal hypoplasia OMIM:615665
Immunoneurologic Disorder, X-Linked
Neonatal death, Functional abnormality of the bladder OMIM:300076
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe postnatal growth... OMIM:266810
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Verheij Syndrome
Short stature, Ventricular septal defect, Renal agenesis, Renal hypoplasia, Renal cyst, Growth de... OMIM:615583
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... ORPHA:363444
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Microphthalmia, Syndromic 9
Atrial septal defect, Renal malrotation, Severe short stature, Short stature, Ventricular septal ... OMIM:601186
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Short stature, Renal hypoplasia, Atrial septal defect, Intrauterine gr... ORPHA:75389
Orofaciodigital Syndrome Xvii
Micropenis, Tetralogy of Fallot, Short stature, Renal hypoplasia OMIM:617926
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia ORPHA:2256
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia OMIM:236500
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Bardet-Biedl Syndrome 16
Renal insufficiency, Short stature, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, H... OMIM:615993
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Braddock Syndrome
Intrauterine growth retardation, Short stature, Unilateral renal agenesis ORPHA:52047
Emanuel Syndrome
Recurrent urinary tract infections, Truncus arteriosus, Ventricular septal defect, Unilateral ren... OMIM:609029
Chopra-Amiel-Gordon Syndrome
Postnatal growth retardation, Short stature, Unilateral renal agenesis OMIM:619504
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular acidosis, Stillb... OMIM:614922
Renal Agenesis
Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei... ORPHA:411709
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:609053
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Short stature, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Intrauterine growth... OMIM:617914
Emanuel Syndrome
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal h... ORPHA:96170
Interstitial Cystitis
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... ORPHA:37202
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Distal Duplication 6P
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... ORPHA:1745
Spastic Paraplegia 19, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607152
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Unilateral renal agenesis, Growth delay, Proximal tubulopathy, Atrial ... OMIM:614576
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Cach Syndrome
Premature ovarian insufficiency, Renal hypoplasia, Secondary amenorrhea, Primary amenorrhea, Grow... ORPHA:135
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis ORPHA:171839
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Cryptorchidism, Renal hypoplasia, Growth delay, Delayed puberty, Intrauterine grow... OMIM:616817
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Kallmann Syndrome With Spastic Paraplegia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Micropenis, Testicular ... OMIM:308750
Spastic Paraplegia 12, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604805
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Renal Hypoplasia, Bilateral
Short stature, Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst,... ORPHA:97362
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Isolated Atp Synthase Deficiency
Short stature, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hypogonadis... ORPHA:254913
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Vesicoureteral reflux, Renal hypoplasia, Hypoplastic left heart, Aortic valve sten... OMIM:617660
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney OMIM:212780
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Renal hypoplasia OMIM:617784
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia OMIM:616589
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Quadricuspid aortic valve, Unilateral renal agenesis, Mitral valve prolapse OMIM:606408
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Short stature, Unilateral renal agenesis OMIM:614900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoospermia, Micropenis... OMIM:308700
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal... OMIM:614376
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopathy,... OMIM:616541
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morphology, Growth delay, Intra... ORPHA:79284
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Mungan Syndrome
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis OMIM:611376
Meckel Syndrome 12
Ureteral hypoplasia, Intrauterine growth retardation, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Intrauterine growth re... ORPHA:2470
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia OMIM:619053
Shashi-Pena Syndrome
Atrial septal defect, Intrauterine growth retardation, Unilateral renal agenesis OMIM:617190
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Growth delay, Tubulointers... OMIM:617595
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Ventricular septal defect, Short stature, Unilateral renal agenesis, Crypto... OMIM:620024
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... OMIM:120330
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia OMIM:604273
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Short stature, Cryptorchidism, Renal hypoplasia, Renal ... ORPHA:85321
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Autosomal Dominant Spastic Paraplegia Type 13
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:100994
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, Renal hypoplasia, Intrau... OMIM:248700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Secundum atrial septal defect, Cryptorchidism, Vesicoureteral reflux, ... OMIM:619951
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia ORPHA:464288
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Fanconi Anemia, Complementation Group F
Short stature, Cryptorchidism, Vesicoureteral reflux, Renal hypoplasia, Microphallus, Atrial sept... OMIM:603467
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Unilateral renal agenesis ORPHA:1064
Hogue-Janssen Syndrome 2
Unilateral renal agenesis OMIM:616362
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Renal agenesis, Short stature, Unilateral renal agenesis OMIM:619227
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Cutis Laxa, Autosomal Dominant 3
Postnatal growth retardation, Intrauterine growth retardation, Unilateral renal agenesis OMIM:616603
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Short stature, Proteinuria, Cryptorchidism, Renal hypoplasia ORPHA:1307
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Short stature, Ectopic kidney, Azoospermia, Renal dysplasia ORPHA:2578
Spastic Paraplegia 8, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:600363
12Q14 Microdeletion Syndrome
Short stature, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Intrauterine growth retardation ORPHA:94063
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Secundum atrial septal defect, Renal hypoplasia, Absence of renal corticomedullary ... OMIM:619758
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ... OMIM:264480
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Sever... ORPHA:2237
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Spastic Paraplegia 36, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:613096
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis OMIM:618914
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Pallister-Hall Syndrome
Renal dysplasia, Decreased testicular size, Hydroureter, Ventricular septal defect, Short stature... OMIM:146510
Mullerian Aplasia And Hyperandrogenism
Primary amenorrhea, Unilateral renal agenesis OMIM:158330
Spastic Paraplegia 3, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:182600
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Ebstein anomaly of the tricuspid valve, Unilateral renal agenesis OMIM:608980
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607565
Neurooculorenal Syndrome
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Postnatal growth retardation,... OMIM:620305
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Short stature, Unilateral renal agenesis, Cryptorchidism, Irre... OMIM:101800
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... OMIM:270100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Unilateral renal agenesis, Mild intrauterine growth retardation, Abnormal cardiac ... OMIM:308050
Exstrophy-Epispadias Complex
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... ORPHA:322
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormal cardiac septum morphology, Pulmo... OMIM:616737
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Schizophrenia 1
Partially duplicated kidney, Renal agenesis, Short stature, Ectopic kidney OMIM:181510
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Mi... ORPHA:464311
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Leopard Syndrome 1
Short stature, Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Cr... OMIM:151100
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor... OMIM:614527
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Neurofaciodigitorenal Syndrome
Intrauterine growth retardation, Short stature, Unilateral renal agenesis, Cryptorchidism ORPHA:2673
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia OMIM:614091
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Short stature, Cryptorchidism, Renal hypoplasia, ... ORPHA:3138
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Short stature, Hypospadias, Unilateral cryptorchidism, Female inf... ORPHA:261529
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidism, Fetal pyelectasis... ORPHA:49
Dyrk1A-Related Intellectual Disability Syndrome
Short stature, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism,... ORPHA:464306
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Duane-Radial Ray Syndrome
Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl... OMIM:607323
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligozoospermia ORPHA:3000
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Rauch-Steindl Syndrome
Short stature, Postnatal growth retardation, Bilateral renal hypoplasia, Intrauterine growth reta... OMIM:619695
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Urinary incontinence OMIM:126200
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Intraut... OMIM:618460
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Intrauterine growth retardation, Micro... OMIM:614083
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
7Q11.23 Microduplication Syndrome
Short stature, Ventricular septal defect, Unilateral renal agenesis, Hypospadias, Cryptorchidism,... ORPHA:96121
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Cerebrofacioarticular Syndrome
Hypospadias, Short stature, Renal hypoplasia, Abnormal heart morphology, Pulmonic stenosis ORPHA:314679
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Renal hypoplasia, Neonatal death, Intrauterine growth retardation, Pat... OMIM:269860
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia ORPHA:48
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Short stature, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphal... OMIM:618454
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... ORPHA:139466
Andersen-Tawil Syndrome
Short stature, Dilated cardiomyopathy, Renal hypoplasia, Growth delay, Renal tubular dysfunction ORPHA:37553
Syndromic Diarrhea
Bicuspid aortic valve, Short stature, Ventricular septal defect, Renal hypoplasia, Abnormal heart... ORPHA:84064
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Intra... ORPHA:468631
Cornelia De Lange Syndrome 1
Ventricular septal defect, Short stature, Hypospadias, Ectopic kidney, Proteinuria, Cryptorchidis... OMIM:122470
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria ORPHA:284400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:618948
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Short stature, Ventricular sept... OMIM:270400
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Decreased... ORPHA:95699
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth OMIM:616300
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Mild postnatal growth retardation, Hydroureter, Unilater... ORPHA:90324
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Ventricular septal defect, Short stature, Abnormal pulmonary ... ORPHA:268261
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short stature, Truncus arteriosus, Ventricular septal defect, Hypospadias,... ORPHA:508498
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Growth delay, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydroneph... OMIM:617913
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Postnatal growth retardation, Abnormal heart morphology, ... ORPHA:487796
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Irritability OMIM:616881
Van Maldergem Syndrome 2
Hypospadias, Cryptorchidism, Renal hypoplasia, Growth delay, Micropenis OMIM:615546
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Atrial septal defect, Short stature, Unilateral renal agenesis OMIM:213980
Zttk Syndrome
Short stature, Ventricular septal defect, Unilateral renal agenesis, Polyuria, Horseshoe kidney, ... OMIM:617140
Spastic Paraplegia 29, Autosomal Dominant
Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia OMIM:609727
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Cryptorchidism, Bilateral renal agenesis, Disproportionat... OMIM:619194
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Short stature, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, ... OMIM:181270
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Short stature, Ventricular septal defect, Unilateral ren... ORPHA:508488
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Van Maldergem Syndrome 1
Growth delay, Hypospadias, Renal hypoplasia OMIM:601390
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Renal hypoplasia, Severe postnatal growth retardation, Atrial septal defect, Intr... OMIM:620005
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis ORPHA:221139
Alagille Syndrome 1
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve... OMIM:118450
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:206583
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder ORPHA:71211
Stromme Syndrome
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Cockayne Syndrome
Neurogenic bladder, Severe short stature, Renal insufficiency, Urinary incontinence, Unilateral r... ORPHA:191
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... ORPHA:206436
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Cryptorchidism, Nephroblastoma, Renal transitional cell carcinoma ORPHA:2874
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence ORPHA:2795
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Male infertility OMIM:300991
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Short stature, Renal agenesis, Hypergonadotropic ... OMIM:227650
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Myoectodermal Gonadal Dysgenesis Syndrome
Short stature, Unilateral renal agenesis OMIM:618419
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Disproportionate s... OMIM:210710
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
22Q11.2 Deletion Syndrome
Short stature, Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Crypt... ORPHA:567
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Renal hypoplasia, Hypoplasia of the ovary, Intrauterine growth retardation, Microp... OMIM:619321
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrial septal defect, Multicystic kidney dysplasia, Short stature, Hypospadias, Unilateral renal ... OMIM:308205
Degcags Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Bilateral renal dyspl... OMIM:619488
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Postnatal growth retardation, Dilatation of the ventricular cavity, Py... ORPHA:90348
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Tetralogy of Fallot, Short stature, Unilateral renal agenesis OMIM:154400
Poland Syndrome
Duplicated collecting system, Hypospadias, Dextrocardia, Renal hypoplasia/aplasia, Cryptorchidism... ORPHA:2911
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Ventricular septal defect, Tricuspid valve prolapse, Cryptorchidism ORPHA:261337
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Mental deterioration, Progressiv... ORPHA:206448
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Hypospadias, Phimosis, Situs inversus totalis, Renal hy... OMIM:309500
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Short stature, Abnormal pulmonary valve morphology, Hyp... ORPHA:857
Diamond-Blackfan Anemia 1
Ventricular septal defect, Short stature, Tricuspid stenosis, Renal hypoplasia, Atrial septal def... OMIM:105650
Kinsship Syndrome
Short stature, Renal hypoplasia, Horseshoe kidney OMIM:619297
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy ORPHA:69076
Williams-Beuren Syndrome
Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,... OMIM:194050
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia... ORPHA:85450
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Short stature, Renal hypoplasia ORPHA:264200
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... ORPHA:904
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Pallister-Hall Syndrome
Decreased testicular size, Short stature, Ventricular septal defect, Unilateral renal agenesis, E... ORPHA:672
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:620197
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormal lef... ORPHA:2729
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Coffin-Siris Syndrome 1
Hydroureter, Short stature, Ventricular septal defect, Hypospadias, Ectopic kidney, Postnatal gro... OMIM:135900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Proportionate short stature, Bilateral renal dysplasia, Horseshoe kidn... ORPHA:500150
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Short stature, Unilateral renal ... OMIM:188400
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Charge Syndrome
Overriding aorta, Ventricular septal defect, Renal agenesis, Hypogonadotropic hypogonadism, Postn... OMIM:214800
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder ORPHA:100996
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Xq28 (MECP2) duplication
Functional abnormality of the bladder DECIPHER:45
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Ventricular septal defect, Unilateral renal agenesis ORPHA:141099
Cerebrotendinous Xanthomatosis
Optic disc pallor, Short attention span, Abnormal auditory evoked potentials, Optic neuropathy, D... ORPHA:909
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Cryptorchidism, Muscular ve... OMIM:619503
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility OMIM:612444
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Fraser Syndrome 1
Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Abnormal heart morpholog... OMIM:219000
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... OMIM:107480
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Male infertility, Immotile sperm OMIM:614874
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:619607
Peters-Plus Syndrome
Ureteral duplication, Rhizomelia, Ventricular septal defect, Hypospadias, Postnatal growth retard... OMIM:261540
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Intrauterine growth retardation, Recurrent urinary tract infections, Short stature, Renal hypoplasia OMIM:617157
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Reduced sperm motility, Male infertility, Immotile sperm OMIM:613807
Ulbright-Hodes Syndrome
Abnormal penis morphology, Postnatal growth retardation, Cryptorchidism, Renal hypoplasia, Birth ... ORPHA:3404
Primary Ciliary Dyskinesia
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... ORPHA:244
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Intrauterine g... OMIM:611812
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Short stature, Unilateral renal agenesis, Secundum atrial septal defect, Subarterial ventricular ... ORPHA:99646
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypercalciuria ORPHA:2239
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Foix-Alajouanine Syndrome
Neurogenic bladder, Functional abnormality of the bladder, Urinary retention, Urinary incontinence ORPHA:79093
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Growth delay, Macroorchidism, Short stature, Unilateral renal hypoplasia OMIM:619950
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Dispro... ORPHA:93271
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Epispadias, Cryptorchidism, Unilateral renal hypoplasia, Atrial septal... OMIM:615948
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Short stature, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypogonadism, Vesicoureteral reflux... OMIM:309580
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Renal hypoplasia,... ORPHA:2052
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Hydronephrosis ORPHA:2363
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Male infertility OMIM:614935
Partial Androgen Insensitivity Syndrome
Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... ORPHA:90797
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
46,Xy Partial Gonadal Dysgenesis
Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop... ORPHA:251510
Lumbar Syndrome
Renal agenesis, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis, Bladder exstrophy... ORPHA:83628
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Bicuspid aortic valve, Short stature, Hypospadias, Abnormality of... ORPHA:1772
Distal Deletion 10Q
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... ORPHA:96148
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... ORPHA:90793
Cystinosis, Nephropathic
Male infertility, Renal insufficiency, Hyperphosphaturia, Short stature, Proteinuria, Polyuria, S... OMIM:219800
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Vater/Vacterl Association
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Postnata... OMIM:192350
Microphthalmia, Syndromic 6
Cryptorchidism, Female hypogonadism, Renal hypoplasia OMIM:607932
Complete Androgen Insensitivity Syndrome
Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty ORPHA:99429
Microphthalmia, Syndromic 1
Hydroureter, Bicuspid aortic valve, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal ... OMIM:309800
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Oligozoosp... ORPHA:125
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Male infertility OMIM:244400
Noonan Syndrome 1
Male infertility, Short stature, Ventricular septal defect, Hypospadias, Postnatal growth retarda... OMIM:163950
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Superficial Siderosis
Functional abnormality of the bladder ORPHA:247245
Cystic Fibrosis
Male infertility, Cor pulmonale, Hypercalciuria OMIM:219700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension ORPHA:391487
Alström Syndrome
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Maz

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Maz.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Maztm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Maztm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mazem1(IMPC)Ics Exon Deletion Mice

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