Gene Summary

Name:
pyruvate dehydrogenase complex, component X
Synonyms:
Pdx1

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
persistence of hyaloid vascular system Pdhxtm1b(EUCOMM)Hmgu HET Early adult 4.23×10-10
abnormal retina morphology Pdhxtm1b(EUCOMM)Hmgu HET   Early adult 2.39×10-05
cataract Pdhxtm1b(EUCOMM)Hmgu HET   Early adult 2.23×10-05
abnormal retinal vasculature morphology Pdhxtm1b(EUCOMM)Hmgu HET Early adult 5.42×10-05
decreased total retina thickness Pdhxtm1b(EUCOMM)Hmgu HET Early adult 5.44×10-08
abnormal lens morphology Pdhxtm1b(EUCOMM)Hmgu HET Early adult 8.73×10-05
preweaning lethality, complete penetrance Pdhxtm1b(EUCOMM)Hmgu HOM   Early adult 5.66×10-06
abnormal retinal blood vessel morphology Pdhxtm1b(EUCOMM)Hmgu HET   Early adult 6.64×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Pdhx 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 Pdhx by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Optic atrophy OMIM:245349
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
ORPHA:255182

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
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 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Shallow anterior chamber, Tractional retinal detach... OMIM:613310
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Aniridia 3
Cataract OMIM:617142
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Developmental cataract, Progressive cataract OMIM:246000
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea, R... ORPHA:83461
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Retina... OMIM:251270
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy OMIM:613154
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma, Retinal dystrophy, Microcornea OMIM:615147
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Keratoconus, Cataract OMIM:613826
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Iris neovascularization, Abnor... ORPHA:94058
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract, Coloboma ORPHA:324416
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Retinal dystrophy OMIM:613763
Autosomal Dominant Keratitis
Aniridia, Coloboma, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the co... ORPHA:2334
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Nathalie Syndrome
Cataract ORPHA:2663
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract OMIM:613835
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Congenital Glaucoma
Retinal detachment ORPHA:98976
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Trichomegaly
Cataract OMIM:190330
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Coloboma OMIM:607906
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy ORPHA:363741
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-... OMIM:180105
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Posterior subcapsular cataract, Bone... OMIM:602772
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Galactosemia Iv
Cataract OMIM:618881
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration, Marginal corneal dystrophy OMIM:210370
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Vitreoretinopathy, Retinal detachment ORPHA:250984
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bon... OMIM:613810
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Galactosemia Ii
Cataract OMIM:230200
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Cataract, Chorioretinal degeneration, Subcaps... ORPHA:414
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract, Choroideremia OMIM:116600
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Posterior subcapsular cataract, Chorioretinal degeneration, Microcornea OMIM:615458
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy ORPHA:329314
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Cataract, Astigmatism, Bone spicule p... OMIM:615986
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract, Retinal dystrophy OMIM:617547
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment OMIM:604841
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Cataract, Retinopathy, Macular dystrophy ORPHA:225
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology ORPHA:170
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Coloboma OMIM:120433
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Cataract, Retinal detachment ORPHA:90653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Peroxisome Biogenesis Disorder 8B
Cataract, Optic atrophy, Retinal dystrophy OMIM:614877
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:616469
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Corneal opacity, Cataract, Microcor... OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Cataract, Corneal opacity, Retinal detachment OMIM:613153
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy OMIM:136300
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Cofs Syndrome
Cataract, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Nathalie Syndrome
Cataract OMIM:255990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Retinal detachment OMIM:615181
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Lens subluxation ORPHA:93296
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor ORPHA:3173
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Ectopia lentis, Chori... OMIM:106210
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Iris coloboma, Cataract, Abnormal cornea morphology, Retinopathy ORPHA:2611
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Papillorenal Syndrome
Lens luxation, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Cataract, Macular ... OMIM:120330
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract 11, Multiple Types
Cataract OMIM:610623
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Cataract 47
Cataract, Microcornea OMIM:612018
Nephronophthisis 14
Retinal degeneration OMIM:614844
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Coloboma, Retinal detachment OMIM:615113
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Antiphospholipid Syndrome, Familial
Iritis, Central retinal artery occlusion, Retinal vasculitis, Keratitis, Retinal detachment, Vitr... OMIM:107320
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Gyrate Atrophy Of Choroid And Retina
Posterior subcapsular cataract, Chorioretinal atrophy OMIM:258870
Congenital Muscular Dystrophy, Fukuyama Type
Retinal dysplasia, Cataract, Optic atrophy ORPHA:272
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Cataract, Optic nerve hypoplasia, Microcornea OMIM:610125
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, Sclerocornea ORPHA:139471
Srd5A3-Cdg
Coloboma, Optic disc hypoplasia, Cataract, Optic atrophy, Rod-cone dystrophy ORPHA:324737
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Refsum Disease, Classic
Cataract, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Tortuosity of conjunctival vessels ORPHA:284289
Neonatal Adrenoleukodystrophy
Cataract, Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract, Retinal detachment ORPHA:1856
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cataract, Optic atrophy, Optic nerve hypoplasia ORPHA:163937
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Cataract, Peters anomaly, Optic nerve... OMIM:614643
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Spondylo-Ocular Syndrome
Iris hypopigmentation, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens ORPHA:85194
Posterior Column Ataxia With Retinitis Pigmentosa
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cataract, Optic atrophy, Bone spicu... OMIM:609033
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Abnormality of retinal pigmentation ORPHA:3085
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Congenital Rubella Syndrome
Cataract, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Proximal Myotonic Myopathy
Cataract ORPHA:606
Alg8-Cdg
Cataract ORPHA:79325
Otodental Syndrome
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea ORPHA:2791
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy OMIM:617481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Coloboma, Retinal degeneration OMIM:615249
Infantile Refsum Disease
Cataract, Optic atrophy, Rod-cone dystrophy ORPHA:772
Pellagra-Like Syndrome
Cataract OMIM:260650
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Retinal degeneration, Cataract, Macular co... OMIM:619260
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Retinal dystrophy, Abnormality of the op... ORPHA:899
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Muscle-Eye-Brain Disease
Cataract, Optic atrophy ORPHA:588
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Coloboma, Cataract, Megalocornea, Optic nerve hypoplasia, Retinal de... ORPHA:370959
Spondyloocular Syndrome
Cataract, Retinal detachment OMIM:605822
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:2715
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy ORPHA:370997
Donnai-Barrow Syndrome
Iris coloboma, Retinal dystrophy, Hypoplasia of the iris, Cataract, Retinal detachment OMIM:222448
Vici Syndrome
Cataract, Abnormality of retinal pigmentation, Optic atrophy, Abnormal macular morphology ORPHA:1493
Knobloch Syndrome
Abnormal vitreous humor morphology, Ectopia lentis, Cataract, Vitreoretinopathy, Retinal detachme... ORPHA:1571
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Multiple Sulfatase Deficiency
Cataract, Abnormality of retinal pigmentation, Optic atrophy, Corneal opacity ORPHA:585
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:88628
Congenital Sialidosis Type 2
Developmental cataract, Yellow/white lesions of the retina, Corneal opacity, Cataract, Hypoplasia... ORPHA:93400
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Warburg Micro Syndrome 2
Cataract, Developmental cataract, Optic atrophy, Microcornea OMIM:614225
Stickler Syndrome, Type I
Cataract, Retinal detachment, Membranous vitreous appearance OMIM:108300
Kniest Dysplasia
Lens luxation, Lattice retinal degeneration, Degenerative vitreoretinopathy, Cataract, Rhegmatoge... ORPHA:485
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormality of t... ORPHA:637
Xeroderma Pigmentosum, Complementation Group B
Cataract, Optic atrophy, Pigmentary retinopathy OMIM:610651
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Optic atrophy OMIM:617913
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Abnormal vitreous hum... ORPHA:649
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Optic disc pallor ORPHA:309288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Retinal atrophy, Coloboma, Corneal opacity, Retinal dysplasia, Cataract, Megalocorne... OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Retinal dystrophy OMIM:616538
Stromme Syndrome
Iris coloboma, Cataract, Peters anomaly, Microcornea, Optic nerve hypoplasia, Sclerocornea, Retin... OMIM:243605
Tetraamelia-Multiple Malformations Syndrome
Iris coloboma, Cataract, Microcornea, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract, Optic atrophy OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Retinal atrophy, Coloboma, Retinal degeneration, Retinal dysplasia, Cataract, Megalo... OMIM:253280
Incontinentia Pigmenti
Cataract, Keratitis, Retinal hemorrhage, Retinal detachment, Hypoplasia of the fovea, Optic atrop... OMIM:308300
Congenital Tufting Enteropathy
Optic disc coloboma, Cataract, Punctate keratitis, Corneal erosion ORPHA:92050
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Classic Homocystinuria
Abnormality of retinal pigmentation, Ectopia lentis, Cataract, Retinal detachment, Optic atrophy ORPHA:394
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Anterior subcapsular cataract, Posterior cortical cataract, Cerulean ... ORPHA:67036
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Pigmentary retinopathy, Sclerocornea OMIM:309801
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Optic nerve hypoplasia, Sclerocorne... ORPHA:42775
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Cataract, Iris atrophy, Absent anterior chamber of the eye OMIM:259770
Blau Syndrome
Cataract, Band keratopathy, Cystoid macular edema, Iritis OMIM:186580
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Microphthalmia, Syndromic 2
Developmental cataract, Remnants of the hyaloid vascular system, Iris coloboma, Microcornea, Reti... OMIM:300166
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Papilledema, Anterior chamber flare, Cystoid macular edema, ... ORPHA:91500
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Optic atrophy OMIM:245349
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
ORPHA:255182

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 Pdhx

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 Pdhx.

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

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MGI Allele Allele Type Produced
Pdhxtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pdhxtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice

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