Gene Summary

Name:
proteasome (prosome, macropain) assembly chaperone 1
Synonyms:
Dscr2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Psmg1tm1b(KOMP)Wtsi HET Early adult 8.64×10-05
abnormal embryo turning Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal embryo size Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal visceral yolk sac morphology Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
corneal opacity Psmg1tm1b(KOMP)Wtsi HET   Early adult 9.91×10-06
abnormal neural tube closure Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
embryonic lethality prior to organogenesis Psmg1tm1b(KOMP)Wtsi HOM   E9.5 0.00
embryonic growth retardation Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal neural tube morphology Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal pharyngeal arch morphology Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
preweaning lethality, complete penetrance Psmg1tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 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 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 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)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 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 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 100% (2 of 2)
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 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system 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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
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.

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of left fundus

15 Images

Adult LacZ

LacZ Images Wholemount

8 Images

Human diseases caused by Psmg1 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 Psmg1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Morquio Syndrome C
Corneal opacity OMIM:252300
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Morm Syndrome
Cataract, Aggressive behavior, Hyperactivity ORPHA:75858
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Winchester Syndrome
Corneal opacity OMIM:277950
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... OMIM:310600
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Aggressive behavior, Hyperactivity OMIM:248510
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Short neck, Short stature, Growth delay OMIM:615583
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Aggressive behavior, Attention deficit hy... OMIM:152950
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
X-Linked Mandibulofacial Dysostosis
Short stature, Webbed neck, Branchial anomaly ORPHA:1131
Craniofacial Microsomia 2
Dermal sinus tract OMIM:620444
Phenylketonuria
Cataract, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Blue ir... OMIM:261600
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... OMIM:620141
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Blue irides, Hyperactivity OMIM:615516
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Corneal opacity ORPHA:281090
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca ORPHA:411777
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Self-mutilation, Recurrent corneal erosions, Hyperactivity, Opacific... OMIM:256800
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Wagro Syndrome
Cataract, Aniridia, Polyphagia, Aggressive behavior, Corneal opacity, Compulsive behaviors, Agita... OMIM:612469
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Bor Syndrome
Branchial cyst ORPHA:107
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Fish-Eye Disease
Corneal opacity ORPHA:79292
Sialidosis Type 2
Corneal opacity ORPHA:87876
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Corneal opacity OMIM:620469
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Intrauterine growth retardation, Increased nuchal translucency, Branchial anomaly ORPHA:453499
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Ocular Cystinosis
Corneal crystals ORPHA:411641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Holoprosencephaly
Spinal dysraphism, Branchial anomaly, Encephalocele, Short neck, Hydrocephalus, Holoprosencephaly ORPHA:2162
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Distal Deletion 6P
Self-injurious behavior, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnorma... ORPHA:96125
Isolated Posterior Meningocele
Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel... ORPHA:268810
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Cystinosis
Polydipsia, Motor stereotypy, Corneal opacity ORPHA:213
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Distal 22Q11.2 Microdeletion Syndrome
Short stature, Intrauterine growth retardation, Branchial fistula, Growth delay ORPHA:261330
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Oligomeganephronia
Branchial cyst ORPHA:2260
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Juvenile Sialidosis Type 2
Cataract, Dysphagia, Corneal opacity ORPHA:93399
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Lcat Deficiency
Corneal opacity ORPHA:650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Increased nuchal translucency, Branchial anomaly, Growth delay ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Increased nuchal translucency, Branchial anomaly, Growth delay ORPHA:352665
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Alg3-Cdg
Neural tube defect ORPHA:79321
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Opacification of the corneal stroma, Hyperactivity OMIM:601853
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Zellweger Syndrome
Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity ORPHA:912
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Histidinemia
Hyperactivity ORPHA:2157
Distal 22Q11.2 Microduplication Syndrome
Low posterior hairline, Webbed neck, Branchial fistula, Hydrocephalus ORPHA:261337
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Wilson Disease
Aggressive behavior, Kayser-Fleischer ring, Hypersexuality ORPHA:905
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Scheie Syndrome
Corneal opacity ORPHA:93474
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Gm1 Gangliosidosis
Dysphagia, Oral aversion, Corneal opacity ORPHA:354
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Mucopolysaccharidosis Type 3
Cataract, Abnormal temper tantrums, Disinhibition, Aggressive behavior, Hyperactivity, Corneal op... ORPHA:581
Scheie Syndrome
Corneal opacity OMIM:607016
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity ORPHA:1764
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Short stature, Intrauterine growth retardation, Natal tooth, Branchial cyst OMIM:620186
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior segment dysgenesis, Opac... OMIM:612582
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity ORPHA:2719
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Cyst... ORPHA:63259
Farber Disease
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Fucosidosis
Corneal opacity ORPHA:349
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Intrauterine growth retardation, Short n... ORPHA:508488
Incontinentia Pigmenti
Cataract, Attention deficit hyperactivity disorder, Keratitis, Corneal opacity ORPHA:464
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma OMIM:243605
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Motor stereotypy, Astigmatism, Corneal opacity ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow response, Corneal opacity, Restlessness... OMIM:615273
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Keratoconjunctivitis sicca, Cornea... ORPHA:495875
Norrie Disease
Self-injurious behavior, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphol... ORPHA:649
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Motor stereotypy, Astigmatism, Corneal opacity ORPHA:464306
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Branchiooculofacial Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Low posterior h... OMIM:113620
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Oppositional defiant disorder, Aggressive behavior, Hyperactivity, Corn... ORPHA:580
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Fabry Disease
Cataract, Anorexia, Conjunctival telangiectasia, Corneal opacity, Cornea verticillata, Corneal dy... ORPHA:324
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Moebius Syndrome
Dysphagia, Corneal opacity ORPHA:570
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Self-injurious behavior, Abnormal pupil morphology, Attention deficit hype... ORPHA:534
Oculoectodermal Syndrome
Microcornea, Astigmatism, Hyperactivity, Opacification of the corneal stroma, Limbal dermoid OMIM:600268
Witteveen-Kolk Syndrome
Short stature, Intrauterine growth retardation, Branchial fistula, Growth delay OMIM:613406
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Fryns Syndrome
Corneal opacity ORPHA:2059
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214110
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Megalocornea ORPHA:536471
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity ORPHA:309282
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, Cataract OMIM:158310
3Mc Syndrome 3
Corneal opacity OMIM:248340
Hurler Syndrome
Corneal opacity ORPHA:93473
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract OMIM:614230
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma OMIM:201000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Astigmatism OMIM:242900
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma, Peters anomaly OMIM:309801
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Dysphagia, Opacification of the corneal stroma OMIM:214100
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Kindler Epidermolysis Bullosa
Conjunctivitis, Dysphagia, Corneal opacity ORPHA:2908
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Neurofibromatosis Type 1
Cataract, Heterochromia iridis, Lisch nodules, Attention deficit hyperactivity disorder, Corneal ... ORPHA:636
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Hydrocephalus OMIM:164210
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Posterior embryotoxon, Corneal opacity ORPHA:2556
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Lathosterolosis
Cataract, Microcornea, Opacification of the corneal stroma ORPHA:46059
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Sclerocornea, Iris c... ORPHA:818
Larsen Syndrome
Corneal opacity OMIM:150250
Williams Syndrome
Cataract, Megalocornea, Aplasia/Hypoplasia of the iris, Overfriendliness, Posterior embryotoxon, ... ORPHA:904
Proboscis Lateralis
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:141099
Tangier Disease
Corneal opacity ORPHA:31150
Chime Syndrome
Corneal opacity ORPHA:3474
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Corneal opacity ORPHA:2072
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae ORPHA:709
Galloway-Mowat Syndrome 1
Cataract, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:251300
Osteogenesis Imperfecta
Dysphagia, Corneal opacity ORPHA:666
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion ORPHA:2273
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:614866
Meckel Syndrome
Sclerocornea, Cataract, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Dysphagia OMIM:601559
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Microphthalmia, Syndromic 3
Sclerocornea, Cataract OMIM:206900
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Wolf-Hirschhorn Syndrome
Sclerocornea, Iris coloboma, Megalocornea ORPHA:280
Gaucher Disease
Dysphagia, Corneal opacity ORPHA:355
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Wilson Disease
Sunflower cataract, Dysphagia, Kayser-Fleischer ring OMIM:277900
Semilobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93924
Xeroderma Pigmentosum
Cataract, Keratitis, Pterygium, Conjunctival telangiectasia, Opacification of the corneal stroma ORPHA:910
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract OMIM:619869
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Megalocornea OMIM:252500
Schinzel-Giedion Syndrome
Short neck, Delayed eruption of teeth, Neural tube defect, Umbilical hernia ORPHA:798
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Opacification of the corneal stroma, Corneal ... OMIM:263650
Fraser Syndrome 1
Corneal opacity OMIM:219000
Cockayne Syndrome B
Microcornea, Opacification of the corneal stroma, Developmental cataract, Hypoplasia of the iris OMIM:133540
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon, Attention deficit hyperactivity disorder OMIM:188400
Yunis-Varon Syndrome
Sclerocornea, Cataract ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea OMIM:253280
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Opacification of the corneal stroma, Keratitis, Corneal neovasculariz... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Yunis-Varon Syndrome
Sclerocornea, Cataract OMIM:216340

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 Psmg1

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 Psmg1.

No publications found that use IMPC mice or data for Psmg1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Psmg1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Psmg1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Psmg1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Psmg1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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