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Gene: Etv4 MGI:99423

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Gene Summary

Name:
ets variant 4
Synonyms:
Pea3,  Pea-3

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
hyperactivity Etv4em1(IMPC)Kmpc HOM Early adult 1.52×10-08

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.

Eye Morphology

Images Slit Lamp

1 Images

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Human diseases caused by Etv4 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 Etv4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Spermatogenic Failure 17
Male infertility OMIM:617214
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired temperature sensation, Abnormal motor neuron morphology, Impair... DECIPHER:29
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
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
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
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
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia,... ORPHA:95434
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Polyglucosan Body Neuropathy, Adult Form
Urinary incontinence, Distal sensory impairment, Orthostatic hypotension, Abnormal upper motor ne... OMIM:263570
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait OMIM:611637
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Juvenile Primary Lateral Sclerosis
Abnormality of the bladder, Spastic gait, Abnormal upper motor neuron morphology, Gait imbalance ORPHA:247604
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Isochromosomy Yp
Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction OMIM:612577
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spastic gait, Loss of ambulation, Decreased compound musc... OMIM:606353
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking OMIM:611067
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Decreased compound muscle action potential amplitude, Pallor of dorsal column... OMIM:602433
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, Facial diplegia, P... OMIM:611890
Isochromosomy Yq
Decreased testicular size, Male infertility, Azoospermia ORPHA:98798
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Renal Coloboma Syndrome
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Opt... ORPHA:1475
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Waddling gait, Cranial nerve compression, Urinary bladder sphin... ORPHA:52430
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... OMIM:620103
Orthostatic Hypotension 1
Retrograde ejaculation, Reduced circulating prolactin concentration OMIM:223360
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Amyotrophic Lateral Sclerosis 5, Juvenile
Urinary incontinence, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:602099
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Ataxia, Gait ataxia OMIM:215470
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking ORPHA:2590
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Distal sensory impairment, Abnormal upper motor neuron morph... OMIM:606070
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance OMIM:608030
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Cach Syndrome
Optic atrophy, Limb ataxia, Truncal ataxia, Renal hypoplasia, Dysmetria ORPHA:135
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Micropenis, Spina bifida OMIM:620439
Birk-Landau-Perez Syndrome
Optic atrophy, Limb ataxia, Stage 3 chronic kidney disease, Difficulty walking, Renal hypoplasia,... OMIM:617595
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Spermatogenic Failure 14
Male infertility, Azoospermia, Abnormal prolactin level, Round spermatid arrest, Elevated circula... OMIM:615842
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Tip-toe gait, Urinary incontinence, Difficulty walking, Abnormal upper motor neuron... OMIM:205100
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Multinucleated neuron, Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia OMIM:236500
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Atrophy of the spinal cord, Cervical spinal... ORPHA:35689
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux, Abnormal conus terminalis morphology ORPHA:464288
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hydronephrosis, Renal insufficiency OMIM:615996
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, ... ORPHA:85284
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Dopamine Beta-Hydroxylase Deficiency
Retrograde ejaculation ORPHA:230
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Urinary incontinence, Gait disturbance OMIM:221770
Isolated Atp Synthase Deficiency
Optic atrophy, 3-Methylglutaconic aciduria, Ataxia, Renal hypoplasia ORPHA:254913
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Syringomyelia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence, Abnormal lower motor neuron morphology OMIM:607225
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Progressive cereb... ORPHA:275872
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia, Macroorchidism, Abnormal hair morphology ORPHA:3000
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Urinary incontinence, Abnormal upper motor neuron morphology, Gait disturbance, Gai... OMIM:601162
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Igg4-Related Retroperitoneal Fibrosis
Retrograde ejaculation, Impotence, Hydrocele testis ORPHA:49041
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Renal hypoplasia, Micropenis, Hypospadias ORPHA:171839
Spermatogenic Failure 13
Male infertility, Elevated circulating follicle stimulating hormone level, Abnormal prolactin lev... OMIM:615841
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking OMIM:613954
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechog... OMIM:617914
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Optic nerve hypoplasia, Renal cyst OMIM:615583
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Truncal ataxia, Renal hypoplasia, Gait ataxia OMIM:616817
Even-Plus Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia OMIM:616854
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux, Abnormality of the autonomic nervous system OMIM:611376
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux, Tethered cord OMIM:617660
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
12Q14 Microdeletion Syndrome
Renal hypoplasia, Syringomyelia, Horseshoe kidney, Ectopic kidney ORPHA:94063
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Spinal dysraphism, Tethered cord OMIM:612918
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Inability to walk, Hydronephrosis, Unilateral renal agenesis OMIM:618494
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:613435
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Neurogenic bladder, Progressive gait ataxia, Degeneration of anter... ORPHA:276244
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Optic nerve hypoplasia, Vesicoureteral reflux, Renal hypoplasia, Horse... OMIM:609053
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Aminoaciduria, Renal hypoplasia, Lacticaciduria OMIM:604273
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Broad-based gait, Dysdiadochokinesis, Gait disturbance... OMIM:616541
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea... OMIM:614376
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Duane-Radial Ray Syndrome
Aganglionic megacolon, Spina bifida occulta, Vesicoureteral reflux, Facial palsy, Renal agenesis,... OMIM:607323
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney OMIM:266810
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal dysplasia, Renal hypoplasia, Renal insufficiency, Hypoplasia of penis ORPHA:85321
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Emanuel Syndrome
Recurrent urinary tract infections, Renal hypoplasia, Micropenis, Unilateral renal agenesis OMIM:609029
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Inability to walk, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydr... OMIM:617913
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Phakomatosis Pigmentokeratotica
Renal transitional cell carcinoma, Hyperesthesia, Spina bifida, Nephroblastoma, Unilateral renal ... ORPHA:2874
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Red... ORPHA:84081
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Cockayne Syndrome Type 3
Abnormality of peripheral nerve conduction, Difficulty walking, Hydroureter, Unilateral renal age... ORPHA:90324
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Gait disturbance, Ataxia, Loss of ambulation, Abnormal lower motor neuron morphology OMIM:614298
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis ORPHA:96170
Exstrophy-Epispadias Complex
Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen... ORPHA:322
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Cryptorchidism, Unila... ORPHA:261529
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Atrophy of the spinal cord, Ab... ORPHA:49
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... ORPHA:237
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Histidinemia
Hyperactivity ORPHA:2157
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Tethered cord, Renal cyst, Renal hypoplasia, Hydrone... OMIM:618460
Marden-Walker Syndrome
Renal hypoplasia, Micropenis, Hypospadias OMIM:248700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Difficulty walking, Distal sensory impairment, Unsteady gait... ORPHA:600
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Vacterl Association With Hydrocephalus
Renal hypoplasia OMIM:276950
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Pelvic kidney, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology,... ORPHA:508498
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Cockayne Syndrome
Optic atrophy, Urinary incontinence, Decreased nerve conduction velocity, Unilateral renal agenes... ORPHA:191
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Matthew-Wood Syndrome
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney ORPHA:2470
Cornelia De Lange Syndrome 1
Optic atrophy, Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Ren... OMIM:122470
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Optic disc col... OMIM:618454
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Renal agenesis, Rena... OMIM:617666
Cerebrofacioarticular Syndrome
Renal hypoplasia, Ataxia, Hypospadias ORPHA:314679
Fanconi Anemia, Complementation Group F
Pelvic kidney, Vesicoureteral reflux, Renal hypoplasia, Microphallus OMIM:603467
Microphthalmia, Syndromic 9
Pelvic kidney, Renal hypoplasia, Hydronephrosis, Renal malrotation, Horseshoe kidney OMIM:601186
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:608627
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph... OMIM:146510
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Renal hypoplasia, Vesicoureteral reflux, Unilateral renal agenesis OMIM:620654
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Facial palsy, Paucity of anterior horn motor ... ORPHA:79139
Pseudotrisomy 13 Syndrome
Renal agenesis, Renal hypoplasia, Micropenis OMIM:264480
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Andersen-Tawil Syndrome
Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... ORPHA:79239
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Van Maldergem Syndrome 2
Renal hypoplasia, Micropenis, Hypospadias OMIM:615546
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Congenital Myopathy 17
Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction OMIM:618975
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Stromme Syndrome
Optic nerve hypoplasia, Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Rauch-Steindl Syndrome
Hyperechogenic kidneys, Bilateral renal hypoplasia OMIM:619695
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Urinary incontinence, Difficulty walking, Inability to walk, Chorea, Ataxia, Amyotr... ORPHA:300605
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Tethered cord, Renal hypoplasia, Optic disc coloboma OMIM:617157
22Q11.2 Deletion Syndrome
Optic atrophy, Aganglionic megacolon, Hypospadias, Polycystic kidney dysplasia, Vesicoureteral re... ORPHA:567
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicate... OMIM:270400
Poland Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Spina bifida occulta, Vesico... ORPHA:2911
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Optic nerve aplasia ORPHA:264200
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Alagille Syndrome 1
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... OMIM:118450
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Kinsship Syndrome
Renal hypoplasia, Horseshoe kidney OMIM:619297
Ulnar-Mammary Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:3138
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Unilateral renal agenesis OMIM:614083
Williams Syndrome
Hypoplasia of penis, Nephrocalcinosis, Ataxia, Multiple renal cysts, Urethral stenosis, Abnormal ... ORPHA:904
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Renal hypoplasia, Optic nerve hypoplasia, Micropenis OMIM:619321
Complete Androgen Insensitivity Syndrome
Male infertility, Absent pubic hair, Testicular neoplasm, Bilateral cryptorchidism, Absent axilla... ORPHA:99429
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Pyelonephritis OMIM:181270
Degcags Syndrome
Abnormal renal medulla morphology, Hypospadias, Recurrent urinary tract infections, Renal hypopla... OMIM:619488
Okamoto Syndrome
Syringomyelia, Urinary incontinence, Tethered cord, Ureteropelvic junction obstruction, Hydroneph... ORPHA:2729
Coffin-Siris Syndrome 1
Hydroureter, Ectopic kidney, Hypospadias, Spina bifida occulta, Gait ataxia, Renal hypoplasia, Hy... OMIM:135900
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia ORPHA:84064
47,Xyy Syndrome
Male infertility, Azoospermia, Oligozoospermia, Increased circulating gonadotropin level, Cryptor... ORPHA:8
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Tethered cord, Renal hypoplasia, Urethra... OMIM:107480
Diamond-Blackfan Anemia 1
Renal hypoplasia, Spina bifida occulta OMIM:105650
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Spina bifida occulta, Pelvic kidney, Optic ... ORPHA:508488
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia OMIM:620005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Tip-toe gait, Ataxia, Unilateral renal hypoplasia OMIM:619950
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Partial Androgen Insensitivity Syndrome
Abnormality of secondary sexual hair, Male infertility, Azoospermia, Bilateral cryptorchidism, Ma... ORPHA:90797
Williams-Beuren Syndrome
Gait imbalance, Renal insufficiency, Hypercalciuria, Abnormal renal morphology, Recurrent urinary... OMIM:194050
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Adrenocorticotropic hormone excess, Absent pubic hair, Bilateral cryptorchidism... ORPHA:90793
Fraser Syndrome 1
Renal hypoplasia, Renal hypoplasia/aplasia, Micropenis, Hypospadias OMIM:219000
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Micropenis, Renal hypoplasia, Renal cyst OMIM:210710
Renpenning Syndrome 1
Renal hypoplasia, Phimosis, Hypospadias OMIM:309500
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Ureteral duplication, Ureteral stenosis OMIM:270100
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Optic atrophy, Hypospadias, Vesicoureteral reflux, Renal hypoplasia, Micropenis OMIM:309580
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu... ORPHA:857
Charge Syndrome
Facial palsy, Renal agenesis, Renal hypoplasia, Hydronephrosis, Micropenis, Horseshoe kidney OMIM:214800
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux ORPHA:2363
Orofaciodigital Syndrome Xiv
Epispadias, Optic disc coloboma, Micropenis, Unilateral renal hypoplasia OMIM:615948
Idiopathic Camptocormia
Syringomyelia, Amyotrophic lateral sclerosis, Myelitis ORPHA:1320
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis ORPHA:93271
Peters-Plus Syndrome
Renal hypoplasia, Ureteral duplication, Hypospadias, Hydronephrosis OMIM:261540
46,Xy Partial Gonadal Dysgenesis
Male infertility, Testicular gonadoblastoma, Azoospermia, Hypergonadotropic hypogonadism, Ovarian... ORPHA:251510
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia ORPHA:3404
Microphthalmia, Syndromic 1
Aganglionic megacolon, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Renal hypoplasia, Opti... OMIM:309800
Microphthalmia, Syndromic 6
Renal hypoplasia OMIM:607932

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 Etv4

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 Etv4.

No publications found that use IMPC mice or data for Etv4.

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MGI Allele Allele Type Produced
Etv4tm83(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Etv4em1(IMPC)Kmpc Exon Deletion Mice

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