Gene Summary

Name:
G-protein signalling modulator 2 (AGS3-like, C. elegans)
Synonyms:
Pins,  LGN,  6230410J09Rik

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
abnormal vitreous body morphology Gpsm2tm1b(EUCOMM)Wtsi HET Early adult 1.40×10-06
abnormal lens morphology Gpsm2tm1b(EUCOMM)Wtsi HET Early adult 4.87×10-10
increased mean platelet volume Gpsm2tm1b(EUCOMM)Wtsi HET   Early adult 1.37×10-06
cataract Gpsm2tm1b(EUCOMM)Wtsi HET Early adult 3.85×10-09
abnormal retina morphology Gpsm2tm1b(EUCOMM)Wtsi HET Early adult 5.91×10-07
preweaning lethality, incomplete penetrance Gpsm2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00195

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Electrocardiogram (ECG)

Waveform Image

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Human diseases caused by Gpsm2 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.

The table below shows human diseases associated to Gpsm2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment OMIM:604213

The table below shows human diseases predicted to be associated to Gpsm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Aniridia 3
Cataract OMIM:617142
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Wagner Vitreoretinopathy
Vitreoretinopathy, Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Cataract, Per... OMIM:143200
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Myh9-Related Disease
Giant platelets, Presenile cataracts, Neutrophil inclusion bodies, Congenital thrombocytopenia, I... ORPHA:182050
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Fechtner syndrome
Developmental cataract, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies,... OMIM:153640
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Trichomegaly
Cataract OMIM:190330
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Exudative Vitreoretinopathy 5
Retinal exudate, Shallow anterior chamber, Exudative vitreoretinopathy, Tractional retinal detach... OMIM:613310
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract, Rod-cone dystrophy OMIM:613731
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Rod-cone ... OMIM:611040
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Galactosemia Ii
Cataract OMIM:230200
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract OMIM:617304
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Macular dystrop... ORPHA:75376
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of the e... ORPHA:83461
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Cataract 16, Multiple Types
Retinal dystrophy, Developmental cataract, Posterior polar cataract OMIM:613763
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Cataract, Rod-cone dystrophy, Macular degeneration, Optic atrophy OMIM:204200
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Dystonia, Focal dystonia,... ORPHA:52368
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Retinitis Pigmentosa 23
Rod-cone dystrophy, Posterior subcapsular cataract OMIM:300424
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Pigmentary retinopa... OMIM:312600
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Cataract 47
Microcornea, Cataract OMIM:612018
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... OMIM:204000
Retinitis Pigmentosa 46
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Nathalie Syndrome
Cataract OMIM:255990
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... ORPHA:2334
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Enhanced S-Cone Syndrome
Vitreoretinopathy, Cataract, Pigmentary retinopathy, Macular edema, Retinoschisis OMIM:268100
Cataract 11, Multiple Types
Cataract OMIM:610623
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis ORPHA:324416
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Aniridia 2
Cataract, Aniridia OMIM:617141
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Proximal Myotonic Myopathy
Cataract ORPHA:606
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Intermediate Uveitis
Macular scar, Band keratopathy, Optic neuritis, Vitreous haze, Cataract, Cystoid macular edema, P... ORPHA:279914
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract OMIM:268050
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Cataract, Cho... ORPHA:414
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Optic atrophy, Increased mean platelet volume OMIM:616737
Retinitis Pigmentosa 43
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Cataract, Acanthocytosis, Anisopoikilocytosis, Opacification ... OMIM:607330
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Retinal detachment, Vitreoretinopathy ORPHA:250984
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Retinal Detachment
Retinal detachment OMIM:180050
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis OMIM:615558
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Cataract OMIM:257790
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
3-Methylglutaconic Aciduria Type 4
Cataract, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Maternally-Inherited Diabetes And Deafness
Retinopathy, Cataract, Macular dystrophy, Abnormal chorioretinal morphology ORPHA:225
Bardet-Biedl Syndrome 9
Retinal degeneration, Cataract, Astigmatism, Rod-cone dystrophy, Bone spicule pigmentation of the... OMIM:615986
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Pellagra-Like Syndrome
Cataract OMIM:260650
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract OMIM:614879
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Antiphospholipid Syndrome, Familial
Vitritis, Central retinal artery occlusion, Iritis, Retinal vasculitis, Autoimmune thrombocytopen... OMIM:107320
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Corneal opacity, Catara... OMIM:152950
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Keratoconus, Optic atrophy, Abnormal retinal vascu... ORPHA:791
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cataract, Optic atrophy OMIM:614877
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract OMIM:616469
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment OMIM:604841
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Anemia, Aplasia/Hyp... ORPHA:290
Congenital Varicella Syndrome
Cataract ORPHA:291
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Conductive hearing impairment, Abnormal auditory evoked potentials,... OMIM:201050
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Cataract, Retinal detachment ORPHA:90653
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Lens subluxation ORPHA:93296
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Nance-Horan Syndrome
Microcornea, Cataract, Retinal detachment ORPHA:627
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor ORPHA:3173
Papillorenal Syndrome
Morning glory anomaly, Cataract, Retinal detachment, Chorioretinal atrophy, Macular degeneration,... OMIM:120330
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Chromosome Xp11.3 Deletion Syndrome
Attenuation of retinal blood vessels, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Optic... OMIM:300578
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Optic atrophy, Increased mean platelet volume ORPHA:487796
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
Joubert Syndrome 9
Retinal dystrophy, Cataract, Astigmatism OMIM:612285
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Srd5A3-Cdg
Microcytic anemia, Cataract, Optic disc hypoplasia, Rod-cone dystrophy, Optic atrophy ORPHA:324737
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Iris coloboma, Cataract, Aplasia/Hypoplasia of the fovea ORPHA:2611
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Syndromic Diarrhea
Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Increased mean platelet volume ORPHA:84064
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Posterior Column Ataxia With Retinitis Pigmentosa
Attenuation of retinal blood vessels, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Bone ... OMIM:609033
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal vitreous humor morphology, Vitritis, Vitreoretinopathy, Ab... ORPHA:209959
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Refsum Disease, Classic
Rod-cone dystrophy, Cataract, Retinal degeneration OMIM:266500
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Microcornea, Cataract, Retinal dystrophy, Iris coloboma ORPHA:139471
Achromatopsia 3
Cataract OMIM:262300
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Decreased ner... ORPHA:101085
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Otodental Syndrome
Retinal coloboma, Microcornea, Cataract, Lens coloboma, Iris coloboma ORPHA:2791
Walker-Warburg Syndrome
Chorioretinal dysplasia, Optic atrophy, Abnormality of the optic nerve, Microcornea, Cataract, Co... ORPHA:899
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Microphthalmia, Syndromic 5
Microcornea, Cataract, Optic nerve hypoplasia, Retinal dystrophy OMIM:610125
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Cataract, Corneal opacity, Optic disc pallor ORPHA:309288
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Infantile Krabbe Disease
Opisthotonus, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials... ORPHA:206436
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic atrophy ORPHA:585
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Splenomegaly, Thymus hyperplasia, Abnormal pu... ORPHA:2969
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cockayne Syndrome Type 1
Hearing impairment, Macrotia, Absent brainstem auditory responses, Optic atrophy, Abnormality of ... ORPHA:90321
Knobloch Syndrome
Abnormal vitreous humor morphology, Vitreoretinopathy, Cataract, Retinal detachment, Macular dege... ORPHA:1571
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Cataract, Abnormality of neutrophils, Ocular albinism, Iris hypopigmentation ORPHA:2720
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Retinal dystrophy, Cataract, Buphthalmos ORPHA:370997
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia, Optic atrophy ORPHA:79330
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exaggerated startl... ORPHA:521426
Stromme Syndrome
Accessory spleen, Sclerocornea, Microcornea, Cataract, Optic nerve hypoplasia, Peters anomaly, Re... OMIM:243605
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Dystonia, Exaggerated startle response ORPHA:438216
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Norrie Disease
Abnormal vitreous humor morphology, Hypoplasia of the iris, Sclerocornea, Optic atrophy, Cataract... ORPHA:649
Neurofibromatosis Type 2
Abnormality of the optic nerve, Remnants of the hyaloid vascular system, Cortical cataract, Epire... ORPHA:637
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Trisomy 10P
Abnormality of the ear, Low-set ears, EEG with burst suppression, Abnormal auditory evoked potent... ORPHA:171929
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Dystonia, Resting tremor, Optic neuropathy, Decre... ORPHA:909
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Tay-Sachs Disease
Dystonia, Laryngeal dystonia, Exaggerated startle response, Optic atrophy, Hearing impairment, Tr... ORPHA:845
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Retinal vascular proliferation, Retinal hemorrhage, Hypoplasia of the... OMIM:308300
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Gm1 Gangliosidosis Type 1
Low-set ears, Macrotia, Hearing impairment, Exaggerated startle response ORPHA:79255
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Optic atrophy, Cataract, Cerulean cata... ORPHA:67036
Cockayne Syndrome B
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked p... OMIM:133540
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Cockayne Syndrome A
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked p... OMIM:216400
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Low-set ears, Optic atrophy OMIM:617527
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Cataract, Iron deficiency anemia, Asplenia, Keratoconjunctivitis OMIM:269200
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Retinal vasculitis, Anterior chamber flare, Abnormality of retinal pigmentatio... ORPHA:91500
Neuroocular Syndrome
Hypoplasia of the fovea, Microcornea, Cataract, Iris coloboma, Blue irides, Remnants of the hyalo... OMIM:619539
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment OMIM:604213
Microphthalmia, Syndromic 2
Developmental cataract, Microcornea, Retinal detachment, Remnants of the hyaloid vascular system,... OMIM:300166
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Microtia, Posteriorly rotated ears, Exaggerated startle response OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Dystonia, Exaggerated startle response ORPHA:438213

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 Gpsm2

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 Gpsm2.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Multiple PDZ domain protein maintains patterning of the apical cytoskeleton in sensory hair cells. Development (Cambridge, England) (July 2021) Gpsm2tm1a(EUCOMM)Wtsi 34228789
Intrinsic planar polarity mechanisms influence the position-dependent regulation of synapse properties in inner hair cells. Proceedings of the National Academy of Sciences of the United States of America (April 2019) Gpsm2tm1a(EUCOMM)Wtsi 30975754
GPSM2-GNAI Specifies the Tallest Stereocilia and Defines Hair Bundle Row Identity. Current biology : CB (February 2019) Gpsm2tm1a(EUCOMM)Wtsi 30827920
Daple coordinates organ-wide and cell-intrinsic polarity to pattern inner-ear hair bundles. Proceedings of the National Academy of Sciences of the United States of America (December 2017) Gpsm2tm1a(EUCOMM)Wtsi PMC5748220
A link between planar polarity and staircase-like bundle architecture in hair cells. Development (Cambridge, England) (September 2016) Gpsm2tm1a(EUCOMM)Wtsi 27660326
The LGN protein promotes planar proliferative divisions in the neocortex but apicobasal asymmetric terminal divisions in the retina. Development (Cambridge, England) (January 2016) Gpsm2tm1a(EUCOMM)Wtsi 26755700
A molecular blueprint at the apical surface establishes planar asymmetry in cochlear hair cells. Developmental cell (October 2013) Gpsm2tm1a(EUCOMM)Wtsi 24135232

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MGI Allele Allele Type Produced
Gpsm2tm403(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gpsm2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gpsm2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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