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Gene: Ube3b MGI:1891295

Gene Summary

Name:

ubiquitin protein ligase E3B

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased cornea thickness	Ube3b^em1(IMPC)Bay	HET	Early adult	0.00
trunk curl	Ube3b^{Gt(RRJ142)Byg}	HET	Early adult	2.60×10^-05
preweaning lethality, complete penetrance	Ube3b^em1(IMPC)Bay	HOM	Early adult	0.00
abnormal cornea morphology	Ube3b^em1(IMPC)Bay	HET	Early adult	4.53×10^-06
abnormal facial morphology	Ube3b^em1(IMPC)Bay	HOM	E18.5	0.00
decreased circulating cholesterol level	Ube3b^{Gt(RRJ142)Byg}	HOM	Early adult	1.62×10^-05
abnormal embryo size	Ube3b^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal retina inner nuclear layer morphology	Ube3b^em1(IMPC)Bay	HET	Early adult	1.56×10^-05
abnormal eye anterior chamber depth	Ube3b^em1(IMPC)Bay	HET	Early adult	1.68×10^-05
fused cornea and lens	Ube3b^em1(IMPC)Bay	HET	Early adult	3.65×10^-10
decreased circulating HDL cholesterol level	Ube3b^{Gt(RRJ142)Byg}	HOM	Early adult	4.52×10^-05
abnormal lens morphology	Ube3b^em1(IMPC)Bay	HET	Early adult	6.31×10^-08
iris synechia	Ube3b^em1(IMPC)Bay	HET	Early adult	3.52×10^-09
decreased body weight	Ube3b^{Gt(RRJ142)Byg}	HOM	Early adult	0.00
eye hemorrhage	Ube3b^em1(IMPC)Bay	HET	Early adult	1.16×10^-09
decreased circulating LDL cholesterol level	Ube3b^{Gt(RRJ142)Byg}	HOM	Early adult	2.06×10^-06
abnormal iris morphology	Ube3b^em1(IMPC)Bay	HET	Early adult	6.87×10^-09
preweaning lethality, incomplete penetrance	Ube3b^{Gt(RRJ142)Byg}	HOM	Early adult	0.00

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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.

Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Forepaw

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Legacy Phenotype Associated Images

Ube3b^{Gt(RRJ142)Byg}
WT, Male, WTSI

Ube3b^{Gt(RRJ142)Byg}
HET, Male, WTSI

Ube3b^{Gt(RRJ142)Byg}
WT, Male, WTSI

View all 176 images

Ube3b^{Gt(RRJ142)Byg}
eye, hard cataracts, HET, Male, WTSI

Ube3b^{Gt(RRJ142)Byg}
eye, cataracts, HET, Male, WTSI

Ube3b^{Gt(RRJ142)Byg}
eye, hard cataracts, HET, Male, WTSI

Ube3b^{Gt(RRJ142)Byg}
tail skin, HOM, Female, WTSI

Ube3b^{Gt(RRJ142)Byg}
tail skin, WT, Female, WTSI

Human diseases caused by Ube3b 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.

Human diseases associated with Ube3b (2 diseases)
Human diseases predicted to be associated with Ube3b (576 diseases)

The table below shows human diseases associated to Ube3b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Kaufman Oculocerebrofacial Syndrome		Low-set ears, Failure to thrive, Hypocholesterolemia, Optic disc pallor, Abnormal pinna morphology	OMIM:244450
Oculocerebrofacial Syndrome, Kaufman Type		Optic atrophy, Microcornea, Abnormal optic nerve morphology, Choroideremia, Chorioretinal dystrophy	ORPHA:2707

The table below shows human diseases predicted to be associated to Ube3b by phenotypic similarity.

Disease	Matching phenotypes	Source
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
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
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Microcornea, Glaucoma, And Absent Frontal Sinuses	Microcornea	OMIM:156700
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death, Juvenile cataract	OMIM:212500
Dermochondrocorneal Dystrophy	Corneal dystrophy	ORPHA:79149
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy	OMIM:607541
Nathalie Syndrome	Cataract, Arrhythmia	ORPHA:2663
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst...	OMIM:217800
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Corneal Dystrophy, Lattice Type I	Recurrent corneal erosions, Lattice corneal dystrophy	OMIM:122200
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos...	OMIM:604229
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph...	ORPHA:39044
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy, Iris cyst	OMIM:620086
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of...	ORPHA:91495
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Hyphema, Corneal keratic precipitates, Pseudophakia,...	ORPHA:209959
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Leber Congenital Amaurosis 4	Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti...	OMIM:604393
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col...	OMIM:610256
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Neovascular Glaucoma	Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino...	ORPHA:94058
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Vasculiti...	ORPHA:279914
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Trichomegaly	Cataract	OMIM:190330
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Vitreoretinochoroidopathy	Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Eales Disease	Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio...	ORPHA:40923
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Bruising susceptibility, Megalocornea, Keratoglobus, Sclerocorn...	OMIM:614170
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect...	ORPHA:83461
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma...	ORPHA:411527
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber	OMIM:618880
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Optic pit, Chorioretinal coloboma	OMIM:616428
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V...	OMIM:143200
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Microphthalmia/Coloboma 4	Microcornea, Coloboma	OMIM:251505
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Lattice corneal dystrophy	OMIM:608471
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d...	OMIM:204000
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea	OMIM:617272
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch...	OMIM:616834
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma	OMIM:614497
Nathalie Syndrome	Cataract, Abnormal EKG	OMIM:255990
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t...	ORPHA:364055
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
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
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep...	ORPHA:3002
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Leber Congenital Amaurosis 9	Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves...	OMIM:608553
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor...	OMIM:614292
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Retinal thinning, Epiretinal membrane, Attenuation of ret...	ORPHA:179
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Galactosemia Ii	Cataract	OMIM:230200
Morquio Syndrome C	Corneal opacity	OMIM:252300
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Galactosemia Iv	Cataract	OMIM:618881
Retinal Capillary Malformation	Retinal exudate, Retinal capillary hemangioma, Subretinal exudate, Hyphema, Epiretinal membrane, ...	ORPHA:71213
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Sveinsson Chorioretinal Atrophy	Peripapillary chorioretinal atrophy, Astigmatism	OMIM:108985
Foveal Hypoplasia 2	Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th...	OMIM:609218
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Chudley-Mccullough Syndrome	Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ...	OMIM:604213
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Morm Syndrome	Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an...	ORPHA:79098
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Vitelliform-like macular lesions, Retinal nonattachment, Choroideremia	ORPHA:99000
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Cataract 47	Cataract, Microcornea	OMIM:612018
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma, Retinal dystrophy	OMIM:615147
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ...	OMIM:614195
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Uveitis, Hyphema, Iritis	ORPHA:158000
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal guttata, Corneal dystrophy	OMIM:613268
Albinism, Oculocutaneous, Type Iv	Macular hypoplasia, Hypopigmentation of the fundus, Blue irides	OMIM:606574
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, Hypopigmentation of the fundus, Blue irides	OMIM:103500
Bilateral Striopallidodentate Calcinosis	Subcutaneous hemorrhage, Corneal opacity	ORPHA:1980
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed...	OMIM:600059
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Cardiomyopathy, Dilated, 1Ii	Cataract, Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left v...	OMIM:615184
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Basal ganglia calcification, Hypocalcemia, Papilledema, Transient hypophosphat...	OMIM:127000
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal...	ORPHA:500166
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
2Q24 Microdeletion Syndrome	Cataract, Coloboma, Abnormality iris morphology	ORPHA:1617
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Purpura, Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy	OMIM:614284
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat...	ORPHA:263479
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Microphthalmia, Isolated 6	Retinal fold, Microcornea	OMIM:613517
Coats Disease	Leukocoria, Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Retinoblastoma	Hypopyon, Hyphema, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of retin...	ORPHA:790
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Woolly Hair	Cataract, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A...	ORPHA:54
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Bradycardia, Sick sinus...	ORPHA:542306
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra...	OMIM:615558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental...	OMIM:613154
Keratoconus Posticus Circumscriptus	Central posterior corneal opacity, Keratoconus	OMIM:244600
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Ectopia lentis, Abnormality of retinal pigmentation	ORPHA:1259
Hec Syndrome	Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Abnormal retinal vascular morphology, Deve...	ORPHA:2119
Juvenile Glaucoma	Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art...	ORPHA:98977
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Chorioretinal coloboma, Optic disc coloboma, Macular atrophy, Flat cornea, Shallow a...	OMIM:602499
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta...	OMIM:616468
Microcephaly 17, Primary, Autosomal Recessive	Ventriculomegaly, Failure to thrive, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	OMIM:617090
Dystonia 31	Abnormal posturing	OMIM:619565
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Brittle Cornea Syndrome	Bruising susceptibility, Corneal scarring, Pulmonic stenosis, Decreased corneal thickness, Retina...	ORPHA:90354
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber	ORPHA:3214
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Isolated Ectopia Lentis	Hypertension, Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis	OMIM:610023
Aniridia 3	Cataract, Aniridia	OMIM:617142
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Chorioretinal degeneration, Posterior subcapsular cataract	OMIM:615458
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Sensori...	OMIM:266510
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Griscelli Syndrome Type 3	Iris hypopigmentation	ORPHA:79478
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Leukocoria, Retinal calcification, Vitritis	OMIM:180200
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Basal ganglia calcification, Papilledema, Retinal calcifi...	ORPHA:93325
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive	OMIM:607765
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor...	OMIM:620317
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Astigmatism, Retinal fold, Keratoglobus	OMIM:108145
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Potocki-Lupski Syndrome	Hypocholesterolemia, Small for gestational age, Failure to thrive	OMIM:610883
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly, Failure to thrive	OMIM:618276
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Microphthalmia/Coloboma 5	Iris coloboma, Chorioretinal coloboma	OMIM:611638
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Generalized Eruptive Keratoacanthoma	Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca	ORPHA:411777
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Microspherophakia, Ectopia lentis, Shallow anterior chamber, Pulmonic sten...	OMIM:614819
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Iris coloboma	ORPHA:2611
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Abnormal pupil morphology	ORPHA:2151
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Leukocoria, Retinal detachment, Hypertension	OMIM:219250
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Lissencephaly Due To Tuba1A Mutation	Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ventricle, Hypo...	ORPHA:171680
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Squalene Synthase Deficiency	Failure to thrive in infancy, Hypocholesterolemia, Decreased LDL cholesterol concentration, Eleva...	OMIM:618156
Retinitis Pigmentosa	Keratoconus, Posterior subcapsular cataract, Optic atrophy, Attenuation of retinal blood vessels,...	ORPHA:791
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia, Failure to thrive	ORPHA:71
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract, Choroideremia	OMIM:116600
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Microphthalmia/Coloboma 9	Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma,...	OMIM:615145
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Exudative retinopathy, Vitreoretinopathy	OMIM:259770
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Cataract, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Coloboma, Ret...	ORPHA:370959
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Facial Spasm	Anisocoria	OMIM:134300
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea...	ORPHA:137599
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Failure to thrive	OMIM:608776
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract, Retinal dystrophy	OMIM:613763
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Leptospirosis	Hypotension, Pulmonary hemorrhage, Macular cotton wool spot, Chorioretinitis, Conjunctival hypere...	ORPHA:509
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Abnormal optic disc morphology, Congenital stationary night blindness, Decreased corneal thickness	ORPHA:293967
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Neonatal death	OMIM:618810
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Pseudoxanthoma Elasticum	Choroidal neovascularization, Macular degeneration, Restrictive cardiomyopathy, Gastrointestinal ...	OMIM:264800
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth...	ORPHA:99827
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Hypocholesterolemia, Abetalipoproteinemia, Decreased body ...	ORPHA:96180
Cinca Syndrome	Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Skin rash, ...	OMIM:607115
Weiss-Kruszka Syndrome	Dysplastic corpus callosum	ORPHA:502430
Microtriplication 11Q24.1	Keratoconus	ORPHA:289522
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Decreased body weight, M...	OMIM:614833
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Atelis Syndrome 2	Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system, Supravalvar...	OMIM:620185
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Intrauterine growth retardation, Small for gestational age	OMIM:620135
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Corticospinal tract hypoplasia, Periventricular cysts, Intrauterine growth reta...	ORPHA:255138
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Subconjunctival hemorrhage, Ep...	ORPHA:464329
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces...	ORPHA:99826
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ...	ORPHA:3163
Lujo Hemorrhagic Fever	Hypotension, Shock, Excessive bleeding after a venipuncture, Ecchymosis, Bradycardia, Myocarditis...	ORPHA:319213
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter mo...	OMIM:616900
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hypergonadotropic hypogonadism, Rod-cone...	OMIM:212065
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H...	ORPHA:340
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Intrauterine growth retardation, Obesity, Periventricular white matter hy...	OMIM:619737
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Telangiectasia of the skin, Hypertension, Corneal dystrophy	ORPHA:52
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Heterochromia iridis, Retinal detachment, Limbal dermoid	ORPHA:2969
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Orthostatic hypotension, Corneal ...	ORPHA:1764
Warburg-Cinotti Syndrome	Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Retinal dystrophy, Decreas...	OMIM:618175
Greig Cephalopolysyndactyly Syndrome	Keratoconus	OMIM:175700
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Iridodonesis, Retinal detachment, Iris transillumination de...	OMIM:249310
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Ectopia pupillae, Macular atrophy, Abnormality of retinal pigmentation, Cone/co...	ORPHA:85167
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Microcephaly, Growth delay, Overfriendliness	OMIM:618010
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Keratoconus	OMIM:242150
Autosomal Recessive Cutis Laxa Type 2A	Secondary microcephaly, Postnatal growth retardation, Intrauterine growth retardation, Dilated fo...	ORPHA:357058
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Mucolipidosis Iv	Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination	OMIM:252650
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Retinal ar...	OMIM:175780
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypopigmentation of the fundus, Hypochol...	ORPHA:14
Familial Cold Autoinflammatory Syndrome 1	Hearing impairment, Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, ...	OMIM:120100
Pontocerebellar Hypoplasia Type 2	Abnormal cortical gyration, Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpu...	ORPHA:2524
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Retinal arterial tortuosity, Vitreous hemorrhage, Retinal detachment, Ce...	OMIM:620371
Microcephaly 26, Primary, Autosomal Dominant	Ventriculomegaly, Failure to thrive, Pachygyria, Hypoplasia of the corpus callosum, Dysplastic co...	OMIM:619179
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Failure to thrive, Hypocholesterolemia, Sensorineural heari...	ORPHA:79324
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive in i...	ORPHA:488627
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia	OMIM:161200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea	OMIM:615877
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho...	ORPHA:2479
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, Retinal hemorrhage, Conju...	OMIM:608710
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal arteriolar tortuosity, Lacunar stroke, Raynaud phenomenon, Supraventricular arrhythmia, R...	OMIM:611773
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Trichinellosis	Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Anisoc...	ORPHA:863
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Even-Plus Syndrome	Severe short stature, Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Incontinentia Pigmenti	Cataract, Keratitis, Congestive heart failure, Cerebral ischemia, Retinal vascular proliferation,...	ORPHA:464
Cinca Syndrome	Hearing impairment, Pseudopapilledema, Splenomegaly, Sensorineural hearing impairment, Inflammato...	ORPHA:1451
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Microcephaly, Failure to thrive, Simplified gyral pattern	OMIM:620001
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Fetal Cytomegalovirus Syndrome	Retinal hemorrhage, Optic atrophy, Petechiae, Chorioretinitis	ORPHA:294
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Optic atrophy, Astigmatism, Optic disc pallor	ORPHA:72
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Costello Syndrome	Hypertrophic cardiomyopathy, Keratoconus, Pulmonic stenosis	ORPHA:3071
Incontinentia Pigmenti	Cataract, Optic atrophy, Keratitis, Hypoplasia of the fovea, Retinal vascular proliferation, Reti...	OMIM:308300
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Arterial Tortuosity Syndrome	Aortic valve stenosis, Keratoconus, Aortic regurgitation, Bruising susceptibility, Ischemic strok...	OMIM:208050
Muckle-Wells Syndrome	Optic atrophy, Progressive sensorineural hearing impairment, Recurrent aphthous stomatitis, Episc...	ORPHA:575
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Astigmatism, Ectopia pupillae	OMIM:618727
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Retinal thinning, Mac...	OMIM:608940
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension	OMIM:614653
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Kaufman Oculocerebrofacial Syndrome	Low-set ears, Failure to thrive, Hypocholesterolemia, Optic disc pallor, Abnormal pinna morphology	OMIM:244450
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal exudate, Macular edema, Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Te...	OMIM:192315
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin	OMIM:617718
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Gastrointestinal hemorrhage, Microcornea, Bruising susceptibility, Congestive heart ...	OMIM:225400
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Failure ...	OMIM:614700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Failure to thrive	OMIM:604273
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Subdural hemorrhage, Cardiomyopathy, Retinal degeneration, Re...	ORPHA:90324
Combined Oxidative Phosphorylation Deficiency 53	Short stature, Secondary microcephaly, Dysplastic corpus callosum, Failure to thrive	OMIM:619423
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Elevated circulating C-reactive protein conc...	ORPHA:85414
Tangier Disease	Hypocholesterolemia, Hypertriglyceridemia	ORPHA:31150
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Macular degeneration, Angioid streaks of the fundus, Angina pectoris...	OMIM:177850
Gapo Syndrome	Keratoconus, Optic atrophy, Megalocornea, Retinal arteriolar tortuosity, Shallow anterior chamber	OMIM:230740
Arterial Tortuosity Syndrome	Keratoconus, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telan...	ORPHA:3342
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing	ORPHA:216866
Gapo Syndrome	Keratoconus, Optic atrophy	ORPHA:2067
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Anisocoria, Orthostatic hypotension	OMIM:231550
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Dubowitz Syndrome	Low-set ears, Eczematoid dermatitis, Hypocholesterolemia, Otitis media, Protruding ear, Rod-cone ...	OMIM:223370
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Abnormality iris morphology, Bruising susceptibility, Transient ischemic at...	ORPHA:91387
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Low-set ears, Failure to thrive, Hearing impairment, Eczematoid dermatitis, Recu...	OMIM:270400
Lacrimoauriculodentodigital Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun...	ORPHA:2363
Knobloch Syndrome 1	Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,...	OMIM:267750
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Splenomegaly, Skin rash, Sensorineural hearing impairment, Lymphadenopathy, Arthrit...	ORPHA:36412
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Cataract, Microspherophakia, Ectopia lentis, Congestive heart failure, Ast...	OMIM:608328
Oculoskeletodental Syndrome	Short stature, Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Splenomegaly, Punctate keratitis, Keratoconjunctivitis sicca, Elevated circula...	OMIM:617388
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Cataract, Microcornea, Optic atrophy, Hyphema, Ectopia pupillae, Retinal c...	ORPHA:261552
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Weight loss, Keratoconjunctivitis sicca...	OMIM:617321
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum...	OMIM:617281
Whipple Disease	Mediastinal lymphadenopathy, Uveitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Myosit...	ORPHA:3452
Idiopathic Aplastic Anemia	Retinal hemorrhage, Epistaxis, Gingival bleeding, Ecchymosis	ORPHA:88
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Periventricular cysts, Large for gestation...	ORPHA:544488
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Angioid streaks...	ORPHA:758
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing	ORPHA:225147
Rift Valley Fever	Gingival bleeding, Macular edema, Abnormal bleeding, Retinal vasculitis, Retinitis, Hematemesis, ...	ORPHA:319251
Generalized Pustular Psoriasis	Hypoalbuminemia, Cheilitis, Obesity, Hypocalcemia, Palmoplantar pustulosis, Hyponatremia, Pustule...	ORPHA:247353
Cockayne Syndrome	Lentiglobus, Cataract, Pigmentary retinopathy, Band keratopathy, Abnormal cornea morphology, Reti...	ORPHA:191
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Hepatosplenomegaly, Splenomegaly, EBV encephalitis, Lymphadenopathy, Uveitis	OMIM:615122
Revesz Syndrome	Leukocoria, Exudative retinopathy, Megalocornea	OMIM:268130
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Failure to thrive, Pachygyria, Polymicrogyria	ORPHA:2328
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor...	ORPHA:649
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Male hypogonadism, Failure to thrive, Hearing impairment, ...	ORPHA:90321
Oculodentodigital Dysplasia	Optic atrophy, Cataract, Microcornea, Abnormality iris morphology, Arrhythmia	ORPHA:2710
Congenital Fibrosis Of Extraocular Muscles	Cataract, Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia	ORPHA:45358
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Iris atrophy	OMIM:146500
Neonatal Marfan Syndrome	Ectopia lentis, Megalocornea, Tricuspid regurgitation, Mitral regurgitation, Iridodonesis, Heart ...	ORPHA:284979
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Cerebrofacioarticular Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corp...	ORPHA:314679
Duane Retraction Syndrome	Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Central heterochromia, Aniridia, Abno...	ORPHA:233
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Failure to thrive, Hypoplasia of the corpus callosum, Agenesis of corpus cal...	OMIM:614924
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage	OMIM:615368
Cockayne Syndrome Type 2	Male hypogonadism, Hearing impairment, Subcortical white matter calcifications, Conjunctivitis, M...	ORPHA:90322
Transketolase Deficiency	Elevated circulating ribitol concentration, Hearing impairment, Seborrheic dermatitis, Conjunctiv...	ORPHA:488618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos	OMIM:613150
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Cogan Syndrome	Abnormal vestibular function, Keratitis, Vertigo, Episcleritis, Sensorineural hearing impairment,...	ORPHA:1467
Miller Fisher Syndrome	Mydriasis, Anisocoria	ORPHA:98919
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Vertigo, Splenomegaly, Skin rash, Orchitis, Myositis, Peritonitis...	ORPHA:32960
Cutis Marmorata Telangiectatica Congenita	Subcutaneous hemorrhage, Leukocoria, Telangiectasia of the skin, Retinal detachment, Purpura	ORPHA:1556
Waldenström Macroglobulinemia	Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ...	ORPHA:33226
Congenital Syphilis	Pneumonia, Optic atrophy, Keratitis, Hearing impairment, Hepatosplenomegaly, Chorioretinitis, Syn...	ORPHA:499009
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology	OMIM:244400
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Iris atrophy	OMIM:201180
Down Syndrome	Keratoconus, Cataract	ORPHA:870
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr...	OMIM:619103
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Retinal vasculitis, Scleritis, Retinal detachment, I...	OMIM:107320
Autoinflammatory Disease, Systemic, X-Linked	Panuveitis, Osteomyelitis, Hepatosplenomegaly, Chorioretinitis, Optic neuritis, Panniculitis, Ant...	OMIM:301081
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Refractory Anemia With Excess Blasts	Retinal hemorrhage, Palpitations, Abnormal bleeding	ORPHA:86839
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Enthesitis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Weight loss, ...	ORPHA:85408
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Anisocoria	ORPHA:90658
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Microcornea, Abnormal optic nerve morphology, Choroideremia, Chorioretinal dystrophy	ORPHA:2707
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Abnormal retinal ...	ORPHA:727
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, ...	OMIM:151050
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:363444
Bloom Syndrome	Pneumonia, Recurrent tonsillitis, Azoospermia, Retinopathy, Otitis media, Skin rash, Oligozoosper...	ORPHA:125
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Failure to thrive, Knee osteoarthritis, Oligoarthritis, Arthritis, Uveitis	ORPHA:85410
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Shigellosis	Pneumonia, Conjunctivitis, Ulcerative colitis, Failure to thrive in infancy, Hyponatremia, Perito...	ORPHA:810
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Cystoid macular edema, Synovitis, Abnor...	OMIM:186580
Oxoglutaric Aciduria	Short stature, Abnormality of Krebs cycle metabolism, Hydrocephalus	ORPHA:31
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Conjunctivitis, Vertigo, Recurrent aphthous stomatitis, Chondritis...	ORPHA:728
Birdshot Chorioretinopathy	Posterior uveitis, Vitreous floaters, Retinal pigment epithelial atrophy, Abnormal chorioretinal ...	OMIM:605808
Zttk Syndrome	Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Periventricular leukomalaci...	OMIM:617140
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Chorioretinitis, Infectiou...	ORPHA:31204
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum	OMIM:618569
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis	OMIM:617044
Glutaryl-Coa Dehydrogenase Deficiency	Retinal hemorrhage, Subdural hemorrhage	ORPHA:25
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Diffuse alveolar hemorrhage, Bruising susceptibility, Arterial rupture, Hemothorax, ...	OMIM:130050
Lyme Disease	Infectious encephalitis, Arthritis, Uveitis	ORPHA:91546
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Oligoarthritis, Ir...	ORPHA:85436
Sarcoidosis, Susceptibility To, 1	Mediastinal lymphadenopathy, Inflammation of the large intestine, Splenomegaly, Chorioretinitis, ...	OMIM:181000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Progressive ventriculomegaly, Ventriculomegaly, Abnormal cerebral cortex morphology, Lateral vent...	ORPHA:500150
Vici Syndrome	Abnormal posturing	OMIM:242840
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy...	OMIM:618820
Choreoacanthocytosis	Cerebral cortical atrophy, Lateral ventricle dilatation, Small basal ganglia, Hair-pulling, Abnor...	ORPHA:2388
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Hypersplenism, Recurrent aphthous stomatitis, Chronic noninfectious lymphadenopathy, S...	ORPHA:3261
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epistaxis, Bruising susceptibility, Arrhythmia, Keratoconjunctivitis sicca, Raynaud ...	ORPHA:285
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Failure to thrive, Slender build, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ...	ORPHA:466791
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage	ORPHA:357074
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Corneal opacity, Chorioretinal dysplasia, Bupht...	ORPHA:534
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatitis, Hepatosplenomegaly, Splenomegaly, Weight loss, Pancreatitis, Ulcerati...	ORPHA:171
Localized Scleroderma	Fasciitis, Esophagitis, Hashimoto thyroiditis, Arthritis, Uveitis	ORPHA:90289
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Trichotillomania	Hair-pulling	OMIM:613229
Witteveen-Kolk Syndrome	Ventriculomegaly, Intrauterine growth retardation, Obesity, Hypoplasia of the corpus callosum, Dy...	OMIM:613406
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Slender build, Delayed puberty, Thick corpus callosum	OMIM:300967
Cornelia De Lange Syndrome 6	Microcephaly, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Hair-pulling	OMIM:620568
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity	OMIM:619426
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Secondary microcephaly, Primary microcephaly, Hypoplasia of the corpus callosum, Hair-pulling	ORPHA:447997
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Monosomy 22Q13.3	Obesity, Agenesis of corpus callosum, Hair-pulling	ORPHA:48652
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal bleeding, Bruising susceptibility, Transient ischemic attack, Abnormal pupi...	ORPHA:286
Stickler Syndrome	Hearing impairment, Slender build, Sensorineural hearing impairment, Abnormal vitreous humor morp...	ORPHA:828
Intellectual Developmental Disorder, Autosomal Dominant 38	Microcephaly, Cerebral atrophy, Hair-pulling	OMIM:616393
Pauci-Immune Glomerulonephritis	Arteritis, Elevated circulating creatinine concentration, Scleritis, Pancreatitis, Glomerulonephr...	ORPHA:93126
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Eczematoid dermatitis, Failure to thrive, Episcleritis, Agenesis of corpus callosum, S...	ORPHA:2273
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Abnormal circulating porphyrin concentration, Splenomegaly, Scleritis, K...	ORPHA:95159
Oculodentodigital Dysplasia	Basal ganglia calcification, Conductive hearing impairment, Abnormal pinna morphology, Uveitis	OMIM:164200
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Abnormal circulating porphyrin concentration, Splenomegaly, Reduced hapt...	ORPHA:79277
Generalized Arterial Calcification Of Infancy	Choroidal neovascularization, Left ventricular systolic dysfunction, Transient ischemic attack, A...	ORPHA:51608
Sarcoidosis	Abnormal lymph node morphology, Parotitis, Weight loss, Keratoconjunctivitis sicca, Lymphadenopat...	ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Microcephaly, Hair-pulling	OMIM:620330
Hallermann-Streiff Syndrome	Uveitis	ORPHA:2108
Leprosy	Abnormality of the spleen, Uveitis, Iritis	ORPHA:548

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ube3b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ube3b.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The murine ortholog of Kaufman oculocerebrofacial syndrome gene Ube3b is crucial for the maintenance of the excitatory synapses in the young adult stage.	Neuroscience letters (January 2023)	Ube3b^{tm1c(EUCOMM)Hmgu}	36623761
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.	Molecular psychiatry (April 2020)	Ube3b^{tm1c(EUCOMM)Hmgu} Ube3b^{tm1d(EUCOMM)Hmgu}	32249816
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ube3b^{Gt(RRJ142)Byg} Ube3b^{Gt(RRJ142)Byg}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ube3b^{Gt(RRJ142)Byg} Ube3b^{Gt(RRJ142)Byg}	PMC6459510
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.	Proceedings of the National Academy of Sciences of the United States of America (February 2019)	Ube3b^{tm1a(EUCOMM)Hmgu}	30808755

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Ube3b^em1(IMPC)Bay	Exon Deletion	Mice
Ube3b^{tm39371(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ube3b^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ube3b^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ube3b MGI:1891295

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

X-ray

X-ray

MicroCT E18.5

Legacy Phenotype Associated Images

Human diseases caused by Ube3b mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data