Gene Summary

breast cancer anti-estrogen resistance 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 kidney morphology Bcar3em1(IMPC)Mbp HOM Early adult 0.00
small kidney Bcar3em1(IMPC)Mbp HOM Early adult 0.00
increased basophil cell number Bcar3em1(IMPC)Mbp HOM Early adult 5.46×10-06
abnormal eye morphology Bcar3em1(IMPC)Mbp HOM Early adult 0.00

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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.

Phenotype associated images not available

Human diseases caused by Bcar3 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 Bcar3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
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
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Aniridia 3
Cataract OMIM:617142
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract OMIM:190330
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Cataract 7
Developmental cataract OMIM:115660
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy OMIM:616722
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Nathalie Syndrome
Cataract ORPHA:2663
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Galactosemia Iv
Cataract OMIM:618881
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Galactosemia Ii
Cataract OMIM:230200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Anterior Segment Dysgenesis 5
Developmental cataract, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasia of the iris, S... OMIM:604229
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Aniridia, Congenital aphakia, Sclerocornea, Peters anomaly, Post... OMIM:610256
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy OMIM:618195
Aniridia 2
Aniridia, Cataract OMIM:617141
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Cataract 43
Subcapsular cataract OMIM:616279
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Cataract 42
Developmental cataract OMIM:115900
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Dysequilibrium Syndrome
Cataract ORPHA:1766
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Macular edema, Increased cup-to-disc ratio, Pos... ORPHA:280914
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Intermediate Uveitis
Vitreous floaters, Macular edema, Anterior uveitis, Optic neuritis, Vitreous snowballs, Posterior... ORPHA:279914
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Cataract 47
Microcornea, Cataract OMIM:612018
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Persistent pupillary membrane, Buphthalmos, Shallow anterior chamber, Retinal nonattachment, Reti... OMIM:221900
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Nathalie Syndrome
Cataract OMIM:255990
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Morm Syndrome
Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Birdshot Chorioretinopathy
Optic disc pallor, Photoreceptor layer loss on macular OCT, Vitreous floaters, Choroidal neovascu... ORPHA:179
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Idiopathic Panuveitis
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Post... ORPHA:280921
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea OMIM:615147
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Proximal Myotonic Myopathy
Cataract ORPHA:606
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 11, Multiple Types
Cataract OMIM:610623
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cataract, Retinopathy, Microcornea OMIM:616171
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Isolated Aniridia
Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula, Cataract ORPHA:250923
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal colobom... OMIM:612109
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... ORPHA:209959
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Dermoids Of Cornea
Corneal opacity OMIM:304730
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Hypoplasia of the iris, Retinal dysplasia,... OMIM:310600
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Poster... ORPHA:364055
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:601706
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
2Q24 Microdeletion Syndrome
Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation OMIM:126070
Pellagra-Like Syndrome
Cataract OMIM:260650
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract OMIM:120433
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Hypoplasia of the retina, Cataract, Retinal dystrophy OMIM:263100
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Congenital Varicella Syndrome
Cataract ORPHA:291
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204000
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract OMIM:617393
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Rod-cone dystrophy, Macular degeneration OMIM:204200
Leber Congenital Amaurosis
Keratoconus, Abnormality of the optic disc, Abnormality of retinal pigmentation, Cataract ORPHA:65
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract OMIM:608763
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Albinism, Oculocutaneous, Type Iv
Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Retinitis Pigmentosa 77
Cystoid macular edema, Posterior subcapsular cataract, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Biemond Syndrome Ii
Iris coloboma OMIM:210350
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract ORPHA:2528
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Late-Onset Retinal Degeneration
Macular atrophy, Multifocal subretinal deposits, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract ORPHA:329314
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615434
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract ORPHA:3156
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Retinal detachment, Vitre... ORPHA:39044
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
3-Methylglutaconic Aciduria, Type Vii
Cataract OMIM:616271
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, At... OMIM:612572
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Juvenile Glaucoma
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Abnormality iris mo... ORPHA:98977
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis ORPHA:324416
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... OMIM:133780
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Developmental And Epileptic Encephalopathy 35
Cataract OMIM:616647
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:101082
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis OMIM:268100
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Combined Oxidative Phosphorylation Deficiency 31
Cataract OMIM:617228
Lissencephaly 8
Optic atrophy, Cataract OMIM:617255
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... ORPHA:414
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cataract OMIM:270800
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract ORPHA:3173
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Vitreous floaters, Bone spicule pigmentation of the retina, Rod-c... OMIM:618173
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Anterior synechiae of the anterior chamber, Microcornea, Iris hypopigmentation, Iris coloboma ORPHA:3214
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Astigmatism, Retinal detachment, Cataract ORPHA:250984
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract OMIM:617404
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:602772
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Abnormal pupil morphology, Iris hypopigmentation, Astig... ORPHA:54
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Achromatopsia 3
Cataract OMIM:262300
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract OMIM:604307
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract OMIM:616154
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Retinal dystrophy, Cataract OMIM:614877
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Lissencephaly 5
Optic atrophy, Cataract OMIM:615191
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Macular dystrophy, Cataract, Retinopathy ORPHA:225
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:2921
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma OMIM:611638
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:180105
Retinitis Pigmentosa 56
Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood... OMIM:613581
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy OMIM:136300
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Cataract OMIM:610756
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract OMIM:608227
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract OMIM:615352
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Myopathy, Myofibrillar, 2
Cataract OMIM:608810
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract ORPHA:85172
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract ORPHA:3433
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Developmental And Epileptic Encephalopathy 73
Cataract OMIM:618379
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:1466
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment, Cataract OMIM:604841
1Q21.1 Microduplication Syndrome
Cataract ORPHA:250994
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:600132
Martsolf Syndrome 2
Developmental cataract, Cataract OMIM:619420
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract, Retinal dystrophy OMIM:617547
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentat... OMIM:613810
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Cataract OMIM:614932
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract OMIM:613730
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:90653
Cataract 24
Anterior polar cataract OMIM:601202
Persistent Hyperplastic Primary Vitreous
Developmental cataract, Persistent pupillary membrane, Buphthalmos, Shallow anterior chamber, Tra... ORPHA:91495
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Nance-Horan Syndrome
Retinal detachment, Microcornea, Cataract ORPHA:627
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Retinitis Pigmentosa 72
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy OMIM:616469
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cataract OMIM:609313
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Stiff Skin Syndrome
Cataract OMIM:184900
Bardet-Biedl Syndrome 9
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... OMIM:615986
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... ORPHA:96125
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Linear Verrucous Nevus Syndrome
Iris coloboma, Retinopathy, Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea ORPHA:2611
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Mevalonic Aciduria
Cataract ORPHA:29
Joubert Syndrome 9
Astigmatism, Retinal dystrophy, Cataract OMIM:612285
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Retinal detachment, Corneal opacity, Cataract OMIM:613153
Trichothiodystrophy 3, Photosensitive
Cataract OMIM:616395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Cataract OMIM:615181
Gyrate Atrophy Of Choroid And Retina
Posterior subcapsular cataract, Chorioretinal atrophy OMIM:258870
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract OMIM:615704
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract OMIM:614872
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract ORPHA:2410
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Hypoplasia of the iris OMIM:223540
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615233
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Hypomelanosis Of Ito
Cataract, Iris coloboma OMIM:300337
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... OMIM:152950
Anisocoria OMIM:106240
Cataract, Iris coloboma ORPHA:79326
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Retinal detachment, Cataract, Lens subluxation ORPHA:93296
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Coloboma, Microcornea, Ectopia pupillae OMIM:615877
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Warburg Micro Syndrome 3
Optic atrophy, Developmental cataract, Shallow anterior chamber, Cataract, Microcornea OMIM:614222
Blue irides, Cataract OMIM:261600
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone dystrophy OMIM:612674
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cataract OMIM:224050
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Werner Syndrome
Retinal degeneration, Cataract OMIM:277700
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract ORPHA:163937
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Cataract OMIM:617481
Dystonia, Juvenile-Onset
Cataract OMIM:607371
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Microcornea ORPHA:139471
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:44
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cataract OMIM:612947
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Posterior uveitis, Choroidal neovascularization, Chorioretin... ORPHA:91500
Laurence-Moon Syndrome
Cataract, Iris coloboma ORPHA:2377
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Iris coloboma, Retinal detachment, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract OMIM:302950
Cataract ORPHA:573
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Cataract, Retinal dysplasia ORPHA:272
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Facial Spasm
Anisocoria OMIM:134300
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Abnormality iris morphology, Optic nerve hypoplasia, Retinal detachment, Cataract,... ORPHA:370959
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Corneal opacity, Cataract ORPHA:290
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Cataract, Coloboma ORPHA:324737
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Cataract OMIM:162400
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... OMIM:609033
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Cataract OMIM:619527
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Cataract, Macular degeneration ORPHA:284289
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Cataract, Coloboma, Microcornea OMIM:610125
Autosomal Recessive Spastic Paraplegia Type 26
Cataract ORPHA:101006
Microcephalic Primordial Dwarfism, Toriello Type
Cataract ORPHA:2643
Baralle-Macken Syndrome
Cataract OMIM:619255
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation ORPHA:85194
Infantile Refsum Disease
Optic atrophy, Facial palsy, Cataract, Rod-cone dystrophy ORPHA:772
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Microcornea, Cataract ORPHA:48431
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract ORPHA:3085
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis OMIM:601552
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Developmental cataract, Cataract ORPHA:436174
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Cataract ORPHA:1856
3-Methylglutaconic Aciduria, Type Viii
Cataract OMIM:617248
Microcephaly 10, Primary, Autosomal Recessive
Cataract OMIM:615095
Refsum Disease, Classic
Retinal degeneration, Cataract, Rod-cone dystrophy OMIM:266500
Nevus Comedonicus Syndrome
Cataract ORPHA:64754
Muscle-Eye-Brain Disease
Optic atrophy, Cataract ORPHA:588
Otodental Syndrome
Lens coloboma, Retinal coloboma, Iris coloboma, Cataract, Microcornea ORPHA:2791
Papillorenal Syndrome
Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc coloboma, Macular ... OMIM:120330
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Cataract ORPHA:2725
Hemochromatosis, Type 4
Cataract OMIM:606069
Cataract OMIM:612463
Microcephalic Primordial Dwarfism, Toriello Type
Cataract OMIM:251190
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract ORPHA:369840
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon OMIM:602482
Proteus-Like Syndrome
Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology, Retinal detachment, Cataract ORPHA:2969
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Combined Oxidative Phosphorylation Deficiency 47
Cataract OMIM:618958
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract ORPHA:2772
Familial Isolated Hypoparathyroidism
Cataract ORPHA:2238
Oligoarticular Juvenile Idiopathic Arthritis
Anterior chamber synechiae, Band keratopathy, Uveitis, Cataract ORPHA:85410
Ifap Syndrome 2
Keratoconjunctivitis sicca, Cataract, Keratitis OMIM:619016
4H Leukodystrophy
Optic atrophy, Cataract ORPHA:289494
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract OMIM:618805
Spastic Paraplegia 9B, Autosomal Recessive
Cataract OMIM:616586
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Spastic Paraplegia 26, Autosomal Recessive
Cataract OMIM:609195
Rhizomelic Chondrodysplasia Punctata
Cataract ORPHA:177
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy ORPHA:1839
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Conjunctivitis, Cataract, Keratitis OMIM:612843
Cahmr Syndrome
Lamellar cataract OMIM:211770
Warburg Micro Syndrome 2
Optic atrophy, Microcornea, Cataract, Developmental cataract OMIM:614225
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Subcapsular cataract OMIM:600907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration, Cataract OMIM:615249
Oculo-Palato-Cerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Retinal detachment, Cataract ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cataract OMIM:615351
Congenital Microcoria
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... ORPHA:566
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Corneal opacity, Cataract ORPHA:496790
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Cataract ORPHA:1914
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract OMIM:614105
Frontofacionasal Dysplasia
Limbal dermoid, Brushfield spots, Iris coloboma, Cataract, Microcornea ORPHA:1791
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy ORPHA:2047
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract ORPHA:3137
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Retinal dystrophy, Buphthalmos, Cataract ORPHA:370997
Pierson Syndrome
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... OMIM:609049
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... ORPHA:3163
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract OMIM:222765
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Corneal opacity, Cataract, Abnormality of per... ORPHA:585
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Cataract OMIM:617913
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, Ma... OMIM:619260
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract OMIM:608885
Myotonic Dystrophy 1
Facial diplegia, Cataract OMIM:160900
Donnai-Barrow Syndrome
Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Retinal detachment, Cataract OMIM:222448
Mend Syndrome
Cataract OMIM:300960
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Abnormal sensory nerve con... ORPHA:88628
Walker-Warburg Syndrome
Optic atrophy, Abnormality of the optic nerve, Retinal dysplasia, Retinal dystrophy, Chorioretina... ORPHA:899
Spondyloocular Syndrome
Retinal detachment, Cataract OMIM:605822
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Cataract ORPHA:2715
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy ORPHA:79095
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Abnormal macular morphology ORPHA:1493
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract ORPHA:79107
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Corneal opacity, Cataract ORPHA:309288
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Astigmatism, Cataract, Ectopia pupillae OMIM:618727
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Cataract OMIM:616449
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract ORPHA:369847
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Gorlin Syndrome
Cataract, Iris coloboma ORPHA:377
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Optic atrophy, Cataract, Pigmentary retinopathy OMIM:610651
Oculofaciocardiodental Syndrome
Ectopia lentis, Iris coloboma, Retinal detachment, Cataract, Microcornea ORPHA:2712
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Iris hypopigmentation, Ocular albinism ORPHA:2720
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Coloboma, Corneal opacity, Cataract ORPHA:2399
Lymphedema-Hypoparathyroidism Syndrome
Cataract OMIM:247410
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Lens subluxation, Retinal atrophy, Retinal ... ORPHA:85167
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Iris coloboma, Cataract, Microcornea ORPHA:3301
Classic Phenylketonuria
Cataract ORPHA:79254
Harlequin Ichthyosis
Cataract ORPHA:457
Galactosemia I
Cataract OMIM:230400
Blau Syndrome
Abnormal cranial nerve morphology, Nongranulomatous uveitis, Uveitis, Cystoid macular edema, Cata... OMIM:186580
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Absent anterior chamber of the eye, Cataract, Vitreoretinopathy OMIM:259770
Galactokinase Deficiency
Nuclear cataract, Cataract ORPHA:79237
Juvenile Sialidosis Type 2
Optic atrophy, Corneal opacity, Cataract, Cherry red spot of the macula ORPHA:93399
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Hypoplasia of the fovea, Cherry red spot of the macula, Co... ORPHA:93400
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea, Astigmatism, Abnormal anterior chamber morpho... ORPHA:2479
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... OMIM:614866
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Retinopathy ORPHA:773
Mietens Syndrome
Sclerocornea, Microcornea, Corneal opacity, Cataract ORPHA:2557
Saul-Wilson Syndrome
Cataract OMIM:618150
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... OMIM:214110
Familial Dysautonomia
Optic atrophy, Corneal erosion, Orthostatic hypotension, Heterochromia iridis, Abnormal pupil mor... ORPHA:1764
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract OMIM:615418
Congenital Tufting Enteropathy
Optic disc coloboma, Cataract, Corneal erosion, Punctate keratitis ORPHA:92050
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology OMIM:231550
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... OMIM:180500
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Microcornea, Cataract OMIM:608279
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Stromme Syndrome