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Gene: Psmg1 MGI:1860263

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Gene Summary

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

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
corneal opacity Psmg1tm1b(KOMP)Wtsi HET   Early adult 1.37×10-05
abnormal neural tube morphology Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal pharyngeal arch morphology Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
hyperactivity Psmg1tm1b(KOMP)Wtsi HET Early adult 9.73×10-05
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 embryo size Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal visceral yolk sac morphology Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal neural tube closure Psmg1tm1b(KOMP)Wtsi HET E9.5 0.00
preweaning lethality, complete penetrance Psmg1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal embryo turning Psmg1tm1b(KOMP)Wtsi HET E9.5 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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
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)
Brown adipose tissue N/A heterozygote 0.0% (0 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)
Hippocampus 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)
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)
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)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 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)
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

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left eye

15 Images

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Adult LacZ

LacZ Images Wholemount

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Forepaw

8 Images

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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 opacity, Corneal dystrophy OMIM:609140
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy 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
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
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, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, 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
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
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
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Winchester Syndrome
Corneal opacity OMIM:277950
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... OMIM:152950
Verheij Syndrome
Branchial cyst, Short stature, Short neck, Growth delay, Intrauterine growth retardation OMIM:615583
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Attention deficit hyperactivity disord... OMIM:261600
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Short stature, Webbed neck ORPHA:1131
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation OMIM:615516
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia ORPHA:411777
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Aniridia, Polyph... OMIM:612469
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Bor Syndrome
Branchial cyst ORPHA:107
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Fish-Eye Disease
Corneal opacity ORPHA:79292
Sialidosis Type 2
Corneal opacity ORPHA:87876
Scheie Syndrome
Corneal opacity OMIM:607016
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Intrauterine growth retardation, Branchial anomaly, Cystic hygroma ORPHA:453499
Ocular Cystinosis
Corneal crystals ORPHA:411641
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Holoprosencephaly
Encephalocele, Short neck, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencephaly ORPHA:2162
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Self-injurious behavior, Ectopia ... ORPHA:96125
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Corneal opacity ORPHA:213
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Distal 22Q11.2 Microdeletion Syndrome
Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation ORPHA:261330
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Oligomeganephronia
Branchial cyst ORPHA:2260
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Dysphagia ORPHA:93399
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Lcat Deficiency
Corneal opacity ORPHA:650
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Growth delay ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Growth delay ORPHA:352665
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Opacification of the corneal stroma OMIM:601853
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Alg3-Cdg
Neural tube defect ORPHA:79321
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract ORPHA:912
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Histidinemia
Hyperactivity ORPHA:2157
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Wilson Disease
Hypersexuality, Kayser-Fleischer ring, Aggressive behavior ORPHA:905
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Hydrocephalus, Low posterior hairline, Webbed neck ORPHA:261337
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Treacher-Collins Syndrome
Encephalocele, Branchial fistula ORPHA:861
Gm1 Gangliosidosis
Oral aversion, Corneal opacity, Dysphagia ORPHA:354
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Scheie Syndrome
Corneal opacity ORPHA:93474
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Mucopolysaccharidosis Type 3
Hyperactivity, Cataract, Corneal opacity, Aggressive behavior, Hypersexuality, Disinhibition, Abn... ORPHA:581
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Intrauterine growth retardation OMIM:620186
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Cataract, Corneal opacity, Iris hypopigmentation ORPHA:2719
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Dyggve-Melchior-Clausen Disease
Hyperactivity, Corneal opacity ORPHA:239
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Short neck, Intrauterine ... ORPHA:508488
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Fucosidosis
Corneal opacity ORPHA:349
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity, Attention deficit hyperactivity disorder ORPHA:464
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma OMIM:607014
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Corneal op... ORPHA:464311
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Aggressive behavior, Buphthalmos, Keratoconjunctivitis sicca,... ORPHA:495875
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Astigmatism, Abnormal repetitive mannerisms, Corneal opacity ORPHA:464306
Congenital Disorder Of Deglycosylation 1
Restlessness, Corneal opacity, Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow response... OMIM:615273
Branchiooculofacial Syndrome
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... OMIM:113620
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Focal Dermal Hypoplasia
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis ORPHA:2092
Mucopolysaccharidosis Type 2
Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnor... ORPHA:580
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Moebius Syndrome
Corneal opacity, Dysphagia ORPHA:570
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Self-injurious behavior, Lenti... ORPHA:534
Oculoectodermal Syndrome
Hyperactivity, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid OMIM:600268
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia ORPHA:324
Fryns Syndrome
Corneal opacity ORPHA:2059
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214110
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Witteveen-Kolk Syndrome
Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation OMIM:613406
3Mc Syndrome 3
Corneal opacity OMIM:248340
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Alpha-Mannosidosis, Infantile Form
Astigmatism, Corneal opacity, Cataract ORPHA:309282
Hurler Syndrome
Corneal opacity ORPHA:93473
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis OMIM:158310
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... 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
Neurofibromatosis Type 1
Cataract, Corneal opacity, Attention deficit hyperactivity disorder, Lisch nodules, Heterochromia... ORPHA:636
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma, Dysphagia OMIM:214100
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis, Dysphagia ORPHA:2908
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Hydrocephalus OMIM:164210
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma ORPHA:46059
Tangier Disease
Corneal opacity ORPHA:31150
Larsen Syndrome
Corneal opacity OMIM:150250
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Self-injurious behavior, Attention deficit hyperactivity disorder, Iris c... ORPHA:818
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Williams Syndrome
Flat cornea, Cataract, Corneal opacity, Blue irides, Aplasia/Hypoplasia of the iris, Compulsive b... ORPHA:904
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Chime Syndrome
Corneal opacity ORPHA:3474
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity, Abnormal temper tantrums ORPHA:2072
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma OMIM:251300
Wilson Disease
Kayser-Fleischer ring, Dysphagia OMIM:277900
Gaucher Disease
Corneal opacity, Dysphagia ORPHA:355
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis ORPHA:2273
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:614866
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Meckel Syndrome
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea ORPHA:564
Osteogenesis Imperfecta
Corneal opacity, Dysphagia ORPHA:666
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Dysphagia OMIM:601559
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Semilobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93924
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium ORPHA:910
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Umbilical hernia, Neural tube defect, Short neck ORPHA:798
Fraser Syndrome 1
Corneal opacity OMIM:219000
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma OMIM:252500
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Cockayne Syndrome B
Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma, Developmental cataract OMIM:133540
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Lathosterolosis
Cataract, Opacification of the corneal stroma OMIM:607330
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma OMIM:253280
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea, Attention deficit hyperactivity disorder OMIM:188400
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Yunis-Varon Syndrome
Cataract, Sclerocornea 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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