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Gene: Rad18 MGI:1890476

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Gene Summary

Name:
RAD18 E3 ubiquitin protein ligase
Synonyms:
2810024C04Rik

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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
decreased total body fat amount Rad18tm1a(EUCOMM)Wtsi HOM Early adult 4.38×10-09
increased hematocrit Rad18tm1a(EUCOMM)Wtsi HOM Early adult 7.54×10-05
increased thermal nociceptive threshold Rad18tm1a(EUCOMM)Wtsi HOM   Early adult 9.77×10-05
cataract Rad18tm1a(EUCOMM)Wtsi HOM   Early adult 4.57×10-05
abnormal lens morphology Rad18tm1a(EUCOMM)Wtsi HOM   Early adult 7.00×10-05
decreased body weight Rad18tm1a(EUCOMM)Wtsi HOM Early adult 3.16×10-11
abnormal coat/ hair morphology Rad18tm1a(EUCOMM)Wtsi HOM Early adult 2.16×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Rad18tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Rad18tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Rad18tm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Rad18tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Rad18tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI

View all 87 images

Rad18tm1a(EUCOMM)Wtsi
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI
Rad18tm1a(EUCOMM)Wtsi
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI
Rad18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Rad18tm1a(EUCOMM)Wtsi
decreased corpus callosum size, HOM, Male, WTSI
Rad18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 6 images

Rad18tm1a(EUCOMM)Wtsi
eye, corneal opacity, narrow eye opening, HOM, Female, WTSI
Rad18tm1a(EUCOMM)Wtsi
eye, abnormal cornea morphology, narrow eye opening, HOM, Female, WTSI
Rad18tm1a(EUCOMM)Wtsi
eye, narrow eye opening, abnormal cornea morphology, HOM, Male, WTSI
Rad18tm1a(EUCOMM)Wtsi
eye, narrow eye opening, abnormal cornea morphology, HOM, Male, WTSI
Rad18tm1a(EUCOMM)Wtsi
tail skin, HOM, Female, WTSI
Rad18tm1a(EUCOMM)Wtsi
abnormal hair cycle, HOM, Female, WTSI
Rad18tm1a(EUCOMM)Wtsi
distorted hair follicle pattern, HOM, Female, WTSI
Rad18tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Rad18tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Rad18 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 Rad18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... OMIM:301059
Spermatogenic Failure 65
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 56
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619515
Spermatogenic Failure 54
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 39
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618643
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Spermatogenic Failure 79
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility OMIM:620196
Spermatogenic Failure 58
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... OMIM:619177
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 7
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... OMIM:614840
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi, Juvenile cataract OMIM:617251
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Cataract 42
Cataract, Developmental cataract OMIM:115900
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... OMIM:618433
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Schizophrenia 15
Hyperactivity OMIM:613950
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... ORPHA:52901
Nathalie Syndrome
Cataract ORPHA:2663
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Erythrocytosis, Familial, 1
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Erythrocytosis, Familial, 2
Increased hematocrit, Increased hemoglobin, Failure to thrive, Increased red blood cell mass OMIM:263400
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Bardet-Biedl Syndrome 18
Cataract, Obesity OMIM:615995
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age, Hirsutism ORPHA:85288
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Decreased body weight, Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Galactosemia Iv
Cataract OMIM:618881
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract, Anemia OMIM:273680
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia ORPHA:48
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Failure to thrive ORPHA:2278
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Small for gestational age, Inguinal hernia, Decreased body weight OMIM:618392
Galactosemia Ii
Cataract OMIM:230200
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Woolly Hair
Cataract, Sparse body hair, Fine hair, Brittle hair, Abnormal pupil morphology, Abnormality of ha... ORPHA:170
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Premature Ovarian Failure 10
Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased testicular size, Primary amen... OMIM:612885
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... ORPHA:1067
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Ataxia-Telangiectasia
Abnormality of chromosome stability, Elevated hepatic transaminase, Failure to thrive ORPHA:100
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic steatos... OMIM:614480
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
N Syndrome
Abnormality of chromosome stability OMIM:310465
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Failure to thrive OMIM:609981
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Weight loss ORPHA:79238
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents, Decreased body weight, Failure to thrive OMIM:619060
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Camptodactyly, Developmental cataract, Decreased body weight OMIM:619420
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Increased resting energy expenditure, Obesity ORPHA:369873
Intestinal Dysmotility Syndrome
Cataract, Weight loss, Failure to thrive OMIM:620045
Nathalie Syndrome
Cataract OMIM:255990
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
3-Methylglutaconic Aciduria Type 4
Cataract, Thrombocytopenia, Iris hypopigmentation, Failure to thrive ORPHA:67048
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, Failure to thrive OMIM:605724
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Umbilical hernia, Inguinal hernia ORPHA:1373
Fragile X Syndrome
Hyperactivity, Folate-dependent fragile site at Xq28 OMIM:300624
Dihydropyrimidine Dehydrogenase Deficiency
Reduced dihydropyrimidine dehydrogenase level, Hyperactivity, Failure to thrive OMIM:274270
Monilethrix
Cataract, Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Fine hair, B... ORPHA:573
Kahrizi Syndrome
Cataract, Knee flexion contracture, Iris coloboma, Elbow contracture OMIM:612713
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin ORPHA:291
Stiff Skin Syndrome
Cataract, Lipodystrophy, Camptodactyly, Knee flexion contracture, Elbow flexion contracture OMIM:184900
Cataract 47
Cataract, Microcornea OMIM:612018
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Gaisböck Syndrome
Increased red blood cell count, Overweight, Increased mean corpuscular hemoglobin concentration, ... ORPHA:90041
Galactose Mutarotase Deficiency
Cataract, Failure to thrive ORPHA:570422
Fragile X Syndrome
Attention deficit hyperactivity disorder, Folate-dependent fragile site at Xq28 ORPHA:908
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Folate-dependent fragile site at Xq28 ORPHA:85327
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Atypical scarring of skin, Alopecia totalis, Nail dystrophy ORPHA:1366
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated hepatic transaminase OMIM:143500
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated hepatic transaminase, Periportal fibrosis, Failure to thrive, ... OMIM:619484
Fanconi Anemia, Complementation Group S
Chromosome breakage, Failure to thrive OMIM:617883
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Failure to thriv... OMIM:235555
Autosomal Dominant Keratitis
Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... ORPHA:2334
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Ruijs-Aalfs Syndrome
Cataract, Lipodystrophy, Premature graying of hair, Sparse hair, Elbow flexion contracture, Decre... OMIM:616200
Pellagra-Like Syndrome
Cataract OMIM:260650
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Cerebrooculofacioskeletal Syndrome 2
Cataract, Camptodactyly of finger, Small for gestational age, Sparse hair, Developmental cataract OMIM:610756
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Keratitis, Alopecia, Enamel hypoplasia, Sparse eyebrow, Scarring alopecia of scalp, Nai... OMIM:612843
Neurotrophic Keratopathy
Corneal perforation, Corneal ulceration, Recurrent corneal erosions, Astigmatism, Corneal scarrin... ORPHA:137596
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Bile Acid Synthesis Defect, Congenital, 4
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Hepatome... OMIM:214950
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Clouston Syndrome
Cataract, Absent axillary hair, Fine hair, Brittle hair, Alopecia, Slow-growing hair, Sparse eyeb... OMIM:129500
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Failu... OMIM:607765
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic transaminase, ... ORPHA:79303
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Aniridia 3
Cataract, Aniridia OMIM:617142
Bone Marrow Failure Syndrome 3
Chromosome breakage, Hyperactivity, Failure to thrive OMIM:617052
46,Xx Sex Reversal 2
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... OMIM:278850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Low Phospholipid-Associated Cholelithiasis
Hepatocellular carcinoma, Cholangitis, Overweight, Liver abscess, Neoplasm of the liver, Intrahep... ORPHA:69663
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Nail dystrophy, Sparse hair, Keratitis, Atrichia OMIM:619016
Gallbladder Disease 1
Cholangitis, Jaundice, Cholestasis, Portal inflammation, Bile duct proliferation, Hepatic fibrosi... OMIM:600803
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Anemia, Corneal scarring, Alopecia, Enamel hypoplasia, Nail dystrophy, Flexion contract... OMIM:226600
Vogt-Koyanagi-Harada Disease
Cataract, Abnormal eyelash morphology, Abnormal eyebrow morphology, Premature graying of hair, Po... ORPHA:3437
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Decreased body weight OMIM:609053
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Obesity OMIM:601794
Aniridia-Absent Patella Syndrome
Cataract, Inguinal hernia, Aniridia ORPHA:1069
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Decreased proportion of class-switched memory B cells, Corneal erosion, Cellulitis OMIM:614878
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Isolated Biliary Atresia
Jaundice, Small for gestational age, Cholestasis, Bile duct proliferation, Atretic gallbladder, H... ORPHA:30391
Lig4 Syndrome
Abnormality of chromosome stability, Hepatomegaly ORPHA:99812
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Bloom Syndrome
Abnormality of chromosome stability, Small for gestational age, Chromosome breakage, Hepatic stea... OMIM:210900
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Biliary Atresia, Extrahepatic
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... OMIM:210500
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Normocytic anemia, Chorioretinal scar, Anterior chamber flare, Iris nevus, Normochromic... ORPHA:91500
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Parenteral Nutrition-Associated Cholestasis
Jaundice, Small for gestational age, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminas... ORPHA:567983
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Fine hair, Keratoconjunctivitis sicca, Corneal dystrophy, Sclerocornea, Sparse hair, Mi... ORPHA:1806
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Attention deficit hyper... OMIM:614083
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Iris coloboma, Buphthalmos OMIM:212550
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:600901
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:227650
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypogonadotropic hypogo... ORPHA:465508
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Attention deficit hyperactivity disorder, Sm... OMIM:227646
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... OMIM:305400
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents, Failure to thrive OMIM:603467
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Attention deficit hyperactivity disorder, Cachexia ORPHA:647
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:227645
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Hepatomegaly, Failure to thrive ORPHA:175
Norrie Disease
Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... OMIM:310600
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism OMIM:222300
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Po... OMIM:221900
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Knee flexion contracture, Coarse hair, Hip contracture, Sparse hair OMIM:118650
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Corneal erosion, Anterior subcapsular cataract, Hypop... OMIM:106210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Riddle Syndrome
Weight loss, Chromosomal breakage induced by ionizing radiation ORPHA:420741
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Keratoconjunctivitis, Asplenia, Alopecia, Band keratopathy, Iron deficiency anemia OMIM:269200
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130
Fanconi Anemia
Abnormality of chromosome stability, Weight loss, Abnormality of the liver ORPHA:84
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Weight loss, Agitation ORPHA:424
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphakia, Posterior synechiae of the anterior chamber, Scl... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Cataract, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Corneal opacity, ... ORPHA:91495
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Impaired oropharyngeal swallow response, Small for gestational age, Decreased resting energy expe... ORPHA:404454
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss, Agitation ORPHA:99819
Meningioma
Obesity, Chromosomal breakage induced by ionizing radiation ORPHA:2495
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... ORPHA:273
Histidinemia
Hyperactivity ORPHA:2157

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 Rad18

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 Rad18.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rad18tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)