Gene Summary

Name:
gap junction protein, epsilon 1
Synonyms:
D230044M03Rik,  Gjf1,  Cx23,  Gsfaey12,  connexin 23,  AEY12

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
decreased circulating serum albumin level Gje1em1(IMPC)H HOM Early adult 1.38×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Gje1 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 Gje1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Cataract 44
Developmental cataract OMIM:616509
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Dermoids Of Cornea
Corneal opacity OMIM:304730
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Microphthalmia, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Cataract 7
Developmental cataract OMIM:115660
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... OMIM:610202
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Cataract 42
Cataract, Developmental cataract OMIM:115900
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th... OMIM:609218
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Morquio Syndrome C
Corneal opacity OMIM:252300
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ... OMIM:269400
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Trichomegaly
Cataract OMIM:190330
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Galactosialidosis
Corneal opacity ORPHA:351
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nathalie Syndrome
Cataract ORPHA:2663
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia, Shallow ante... OMIM:267760
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... ORPHA:209956
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia, Retinal dys... ORPHA:324416
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Macular atrophy, Retinal detachment, Micropht... OMIM:212550
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Rod-cone dystrophy, Microphthalmia OMIM:601794
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Rod-cone dystrophy, Microphthalmia ORPHA:363741
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... OMIM:614292
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Galactosemia Ii
Cataract OMIM:230200
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachme... OMIM:613310
Cataract 47
Cataract, Microcornea OMIM:612018
Galactosemia Iv
Cataract OMIM:618881
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Winchester Syndrome
Corneal opacity OMIM:277950
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pa... OMIM:616171
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... OMIM:600059
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Gombo Syndrome
Microphthalmia OMIM:233270
Diarrhea 13
Hypoalbuminemia OMIM:620357
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Nathalie Syndrome
Cataract OMIM:255990
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Ectopia Lentis 1, Isolated, Autosomal Dominant
Retinal detachment, Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:129600
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Aniridia 3
Cataract, Aniridia OMIM:617142
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, Retinal d... OMIM:616188
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Neovascular Glaucoma
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... ORPHA:94058
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Corneal opacity... OMIM:120200
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Proximal Myotonic Myopathy
Cataract ORPHA:606
Microphthalmia/Coloboma 9
Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea... OMIM:615145
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Cofs Syndrome
Cataract, Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment, Microphthalmia ORPHA:627
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Retinal detachment, Microphthalmia OMIM:615181
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu... ORPHA:91495
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
2Q24 Microdeletion Syndrome
Cataract, Coloboma, Abnormality iris morphology, Microphthalmia ORPHA:1617
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Microphthalmia, Syndromic 5
Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Retinal dystrophy, Optic nerve hyp... OMIM:610125
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor, Microphthalmia OMIM:613730
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Retinitis Pigmentosa 74
Posterior polar cataract OMIM:616562
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c... ORPHA:139471
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Microphthalmia OMIM:274270
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Aplasia/Hypoplasia affecting the eye ORPHA:1643
Cat-Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Developmental cataract, Microphthalmia OMIM:613155
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Kniest Dysplasia
Cataract, Vitreoretinopathy, Degenerative vitreoretinopathy, Retinal detachment, Aplasia/Hypoplas... ORPHA:485
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract OMIM:117300
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium OMIM:619339
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op... OMIM:300476
Lissencephaly 8
Cataract, Optic atrophy, Microphthalmia OMIM:617255
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Joubert Syndrome 22
Retinal dysplasia, Coloboma, Microphthalmia OMIM:615665
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Microphthalmia ORPHA:290
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Coloboma, Retinal detachment, Corneal opacity, Microphthalmia OMIM:613153
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Increased axial length of the globe, Chorioretinal coloboma, Optic disc coloboma, Ma... OMIM:602499
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Cataract 48
Cataract OMIM:618415
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Ectopia lentis, Abnormality of retinal pigmentation ORPHA:1259
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Optic nerve hypoplasia OMIM:620609
Warburg Micro Syndrome 1
Optic atrophy, Microcornea, Developmental cataract, Microphthalmia OMIM:600118
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Retinal degeneration, Coloboma, Microphthalmia OMIM:615249
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ... OMIM:613581
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Biemond Syndrome Type 2
Coloboma, Microphthalmia ORPHA:141333
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Fish-Eye Disease
Corneal opacity ORPHA:79292
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Alport Syndrome 3A, Autosomal Dominant
Lenticonus, Anterior polar cataract OMIM:104200
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia OMIM:169550
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... ORPHA:414
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Walker-Warburg Syndrome
Cataract, Microcornea, Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Chorioretina... ORPHA:899
Temtamy Syndrome
Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Lens luxation OMIM:218340
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Anterior polar cataract OMIM:620510
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor... ORPHA:649
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:1794
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Coloboma, Optic atrophy, Microphthalmia OMIM:612379
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Mmep Syndrome
Microphthalmia ORPHA:3434
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Microphthalmia ORPHA:2399
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Cataract, Microcornea, Microphthalmia OMIM:617306
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Ocular Cystinosis
Corneal crystals ORPHA:411641
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Anterior polar cataract OMIM:250420
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea OMIM:615877
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Brittle Cornea Syndrome
Corneal scarring, Decreased corneal thickness, Corneal dystrophy, Corneal erosion, Keratoglobus ORPHA:90354
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic atrophy, Abnormality iris morphology, Megalocornea, Coloboma, Retinal detachment,... ORPHA:370959
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:2714
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Microphthalmia OMIM:301108
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic nerve hypoplasia, Corneal opacity ORPHA:496790
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Sialidosis Type 2
Corneal opacity ORPHA:87876
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Anterior polar cataract, Posterior embryotoxon, Hypoplasia of the iris OMIM:619194
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Mend Syndrome
Macular hypoplasia, Cataract, Anterior polar cataract OMIM:300960
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma ORPHA:1791
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Retinal dystrophy, Microphthalmia OMIM:616538
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Retinal thinning, Macular atrophy, Abnormality of retinal pigmentation, Cone/co... ORPHA:85167
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Neurooculocardiogenitourinary Syndrome
Coloboma, Peters anomaly, Microphthalmia OMIM:618652
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Posterior polar cataract, Optic disc hypoplasia ORPHA:261584
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:1553
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Phace Syndrome
Retinal vascular malformation, Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens... ORPHA:42775
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Optic atrophy, Microphthalmia OMIM:610651
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
3Q29 Microduplication Syndrome
Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:77298
Adams-Oliver Syndrome 2
Optic atrophy, Developmental cataract, Microphthalmia OMIM:614219
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi, Flat cornea OMIM:618283
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Refsum Disease
Cataract, Abnormality of retinal pigmentation, Retinopathy, Microphthalmia ORPHA:773
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Retinal detachment, Hypopigmentation of the fundus, Microphthalmia ORPHA:163649
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Retinal detachment, Microphthalmia, Iris coloboma ORPHA:2712
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Retinal pigment epithelial mottling, Microphthalmia OMIM:614105
Frontonasal Dysplasia 1
Cataract, Coloboma, Microphthalmia OMIM:136760
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Anterior polar cataract OMIM:619575
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... OMIM:278730
Kapur-Toriello Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia ORPHA:2328
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Warburg Micro Syndrome 2
Cataract, Microcornea, Optic atrophy, Developmental cataract, Microphthalmia OMIM:614225
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Papillorenal Syndrome
Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Morning glory anomaly, Cho... OMIM:120330
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Corneal opacity, Sclerocornea ORPHA:284160
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Congenital Disorder Of Glycosylation, Type Ih