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Gene: Agbl1 MGI:3646469

Gene Summary

Name:

ATP/GTP binding protein-like 1

Synonyms:

Nna1-l1, Ccp4, EG244071

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
abnormal optic disk morphology	Agbl1^em1(IMPC)J	HOM	Late adult	8.39×10^-07
decreased lean body mass	Agbl1^em1(IMPC)J	HOM	Late adult	6.64×10^-06
abnormal retina blood vessel morphology	Agbl1^em1(IMPC)J	HOM	Late adult	2.25×10^-07
abnormal retina vasculature morphology	Agbl1^em1(IMPC)J	HOM	Late adult	2.25×10^-07
iris synechia	Agbl1^em1(IMPC)J	HOM	Late adult	2.58×10^-07
fused cornea and lens	Agbl1^em1(IMPC)J	HOM	Late adult	2.25×10^-07
persistence of hyaloid vascular system	Agbl1^em1(IMPC)J	HOM	Late adult	3.13×10^-06
increased total body fat amount	Agbl1^em1(IMPC)J	HOM	Late adult	1.70×10^-06
abnormal vitreous body morphology	Agbl1^em1(IMPC)J	HOM	Late adult	2.25×10^-07
abnormal lens morphology	Agbl1^em1(IMPC)J	HOM	Late adult	2.78×10^-06
cataract	Agbl1^em1(IMPC)J	HOM	Late adult	4.75×10^-05

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

18 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Agbl1 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 Agbl1 (2 diseases)
Human diseases predicted to be associated with Agbl1 (567 diseases)

The table below shows human diseases associated to Agbl1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Corneal Dystrophy, Fuchs Endothelial, 8		Corneal dystrophy, Corneal guttata	OMIM:615523
Fuchs Endothelial Corneal Dystrophy		Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci...	ORPHA:98974

The table below shows human diseases predicted to be associated to Agbl1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract	OMIM:616722
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy...	OMIM:143200
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Retinitis Pigmentosa 42	Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu...	OMIM:612943
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Leber Hereditary Optic Neuropathy, Modifier Of	Leber optic atrophy, Optic atrophy	OMIM:308905
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst, Hypoplasia of the fovea, Optic atrophy	OMIM:620086
Coats Disease	Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm...	ORPHA:190
Birdshot Chorioretinopathy	Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular...	ORPHA:179
Retinitis Pigmentosa 40	Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo...	OMIM:613801
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti...	OMIM:616468
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Central Retinal Vein Occlusion	Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg...	ORPHA:411527
Spastic Ataxia-Corneal Dystrophy Syndrome	Corneal dystrophy, Optic atrophy, Developmental cataract	ORPHA:2572
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir...	ORPHA:231736
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Bardet-Biedl Syndrome 18	Retinal dystrophy, Cataract, Rod-cone dystrophy, Obesity	OMIM:615995
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Aniridia 3	Cataract	OMIM:617142
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Glaucoma 3, Primary Congenital, E	Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio	OMIM:617272
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o...	OMIM:617319
Intermediate Uveitis	Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi...	ORPHA:279914
Leber Congenital Amaurosis 13	Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret...	OMIM:612712
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph...	OMIM:221900
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Attenuation of retinal blood vessels, Optic atrophy	OMIM:165510
Optic Atrophy 2	Optic atrophy	OMIM:311050
Anterior Segment Dysgenesis 5	Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:604229
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Idiopathic Anterior Uveitis	Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle...	ORPHA:280914
Retinitis Pigmentosa 84	Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:618220
Retinitis Pigmentosa 9	Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata...	OMIM:180104
Aniridia 2	Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia	OMIM:617141
Stickler Syndrome Type 2	Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology	ORPHA:90654
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl...	OMIM:614292
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia, Progressive cataract, Developmental cataract	OMIM:246000
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten...	OMIM:616188
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Optic Atrophy 5	Optic atrophy	OMIM:610708
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Anterior Segment Dysgenesis 2	Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an...	OMIM:610256
Leber Congenital Amaurosis 2	Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P...	OMIM:204100
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn...	ORPHA:364055
Retinitis Pigmentosa 4	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:613731
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels...	OMIM:604393
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,...	OMIM:133780
Vitreoretinal Degeneration, Snowflake Type	Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi...	OMIM:193230
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col...	ORPHA:1473
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ...	OMIM:305390
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Cataract 21, Multiple Types	Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,...	OMIM:610202
Oculoauricular Syndrome	Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster...	OMIM:612109
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Retinitis Pigmentosa 13	Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm...	OMIM:600059
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Corneal Dystrophy, Groenouw Type I	Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy	OMIM:121900
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy	OMIM:617087
Leber Congenital Amaurosis 19	Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:618513
Spastic Paraplegia 43, Autosomal Recessive	Knee flexion contracture, Optic atrophy, Ankle flexion contracture	OMIM:615043
Cataract-Microcornea Syndrome	Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Nathalie Syndrome	Cataract	ORPHA:2663
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe...	OMIM:225200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys...	OMIM:251270
Phacoanaphylactic Uveitis	Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ...	ORPHA:209959
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis	ORPHA:1068
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c...	ORPHA:708
Retinitis Pigmentosa 71	Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h...	OMIM:616394
Morm Syndrome	Retinal atrophy, Cataract, Retinal dystrophy, Truncal obesity	ORPHA:75858
Idiopathic Panuveitis	Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu...	ORPHA:280921
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat...	OMIM:616108
Retinitis Pigmentosa 46	Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d...	OMIM:612572
Ceroid Lipofuscinosis, Neuronal, 9	Rod-cone dystrophy, Optic atrophy	OMIM:609055
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c...	OMIM:193220
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma	OMIM:616428
Exfoliation Syndrome	Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ...	OMIM:177650
Leber Congenital Amaurosis 8	Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment...	OMIM:613835
Coloboma, Ocular, Autosomal Dominant	Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma...	OMIM:120200
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Trichomegaly	Cataract	OMIM:190330
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op...	OMIM:300476
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Peripheral Cone Dystrophy	Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy	OMIM:609021
Posterior Polymorphous Corneal Dystrophy	Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Pupillary Membrane, Persistence Of	Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
Retinitis Pigmentosa 57	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613582
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Microspherophakia With Hernia	Retinal detachment, Inguinal hernia, Microspherophakia, Superior lens subluxation	OMIM:157150
Iridocorneal Endothelial Syndrome	Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante...	ORPHA:64734
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch...	OMIM:614195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Posterior synechiae of the anterior chamber, Developmental ca...	OMIM:613154
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Isolated Optic Nerve Hypoplasia/Aplasia	Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,...	ORPHA:137902
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618195
Cataract 9, Multiple Types	Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract	OMIM:604219
Eales Disease	Iris neovascularization, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, V...	ORPHA:40923
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Retinitis Pigmentosa 25	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:602772
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori...	OMIM:212550
Ceroid Lipofuscinosis, Neuronal, 3	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract	OMIM:204200
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor	OMIM:616171
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Retinal dystrophy, Cataract, Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Leber Congenital Amaurosis 1	Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P...	OMIM:204000
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Leber Congenital Amaurosis 9	Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro...	OMIM:608553
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Autosomal Dominant Keratitis	Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co...	ORPHA:2334
Autosomal Recessive Spastic Paraplegia Type 45	Knee flexion contracture, Optic atrophy, Ankle flexion contracture, Flexion contracture of toe	ORPHA:320396
Ceroid Lipofuscinosis, Neuronal, 11	Retinal dystrophy, Optic atrophy	OMIM:614706
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Weill-Marchesani Syndrome 4	Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb...	OMIM:613195
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract	OMIM:610092
Persistent Hyperplastic Primary Vitreous	Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem...	ORPHA:91495
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis	OMIM:251750
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Rod-cone dystrophy, Obesity, Retinal coloboma	OMIM:601794
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma	OMIM:216820
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Rod-cone dystrophy, Microcornea	OMIM:619082
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Retinitis Pigmentosa 62	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614181
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Galactosemia Iv	Cataract	OMIM:618881
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Rod-cone dystrophy, Obesity, Retinal coloboma	ORPHA:363741
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Sensory axonal neuropathy, Optic atrophy	ORPHA:329314
Vitreoretinopathy, Neovascular Inflammatory	Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe...	OMIM:193235
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Isolated Aniridia	Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia	ORPHA:250923
2Q24 Microdeletion Syndrome	Camptodactyly of finger, Coloboma, Small for gestational age, Failure to thrive, Cataract, Abnorm...	ORPHA:1617
Anterior Segment Dysgenesis 6	Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m...	OMIM:617315
Exudative Vitreoretinopathy 4	Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo...	OMIM:601813
Norrie Disease	Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch...	OMIM:310600
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Retinitis Pigmentosa 14	Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos...	OMIM:600132
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Retinitis Pigmentosa 2	Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,...	OMIM:312600
Retinitis Pigmentosa 70	Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess...	OMIM:615922
Retinitis Pigmentosa 43	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613810
Retinitis Pigmentosa 50	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt...	OMIM:613194
Retinitis Pigmentosa 72	Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:616469
Retinitis Pigmentosa 95	Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret...	OMIM:620102
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Retinitis Pigmentosa	Optic atrophy, Obesity, Abnormality of retinal pigmentation, Cataract, Atypical scarring of skin,...	ORPHA:791
Galactosemia Ii	Cataract	OMIM:230200
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Late-Onset Retinal Degeneration	Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa...	ORPHA:67042
Dwarfism With Stiff Joints And Ocular Abnormalities	Retinal detachment, Cataract	OMIM:127200
Merrf	Multiple lipomas, Optic atrophy	ORPHA:551
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:614296
Retinitis Pigmentosa 63	Rod-cone dystrophy, Optic disc pallor	OMIM:614494
Blindness-Scoliosis-Arachnodactyly Syndrome	Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia	ORPHA:171844
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Cone-Rod Dystrophy 17	Optic disc pallor, Cone/cone-rod dystrophy	OMIM:615163
Retinitis Pigmentosa 26	Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:608380
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Optic disc pallor, Vaginal hernia	ORPHA:3173
Kahrizi Syndrome	Knee flexion contracture, Cataract, Iris coloboma, Elbow contracture	OMIM:612713
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy	OMIM:613862
Irvan Syndrome	Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ...	ORPHA:209943
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Cofs Syndrome	Camptodactyly of finger, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Arthrogryp...	ORPHA:1466
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation ...	OMIM:615233
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Uveal Melanoma	Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili...	ORPHA:39044
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Night Blindness, Congenital Stationary, Type 1G	Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness	OMIM:616389
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Rod-cone dystrophy, Optic atrophy, Achilles tendon contracture, Cataract, Decreased nerve conduct...	OMIM:612674
Retinitis Pigmentosa 77	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:617304
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Spinocerebellar Ataxia, Autosomal Recessive 12	Retinal degeneration, Optic atrophy	OMIM:614322
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Senior-Loken Syndrome	Retinal dystrophy, Cataract, Abnormality of retinal pigmentation	ORPHA:3156
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Mucolipidosis Iv	Retinal degeneration, Opacification of the corneal stroma, Corneal opacity, Optic atrophy	OMIM:252650
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy	OMIM:615434
Striatonigral Degeneration, Infantile	Failure to thrive, Optic atrophy	OMIM:271930
Retinitis Pigmentosa 28	Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:606068
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Optic Nerve Hypoplasia, Bilateral	Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ...	OMIM:165550
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Retinitis Pigmentosa 83	Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina...	OMIM:618173
Optic Atrophy 6	Optic atrophy	OMIM:258500
Retinitis Pigmentosa 74	Rod-cone dystrophy, Optic disc pallor, Posterior polar cataract, Obesity, Pigmentary retinopathy	OMIM:616562
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Cataract	ORPHA:2278
Retinitis Pigmentosa 76	Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen...	OMIM:617123
Nathalie Syndrome	Cataract	OMIM:255990
Spastic Paraplegia 45, Autosomal Recessive	Flexion contracture, Optic atrophy	OMIM:613162
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis	ORPHA:1259
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Congenital Disorder Of Glycosylation, Type Iaa	Failure to thrive, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:617082
Autosomal Recessive Stickler Syndrome	Retinal detachment, Astigmatism, Cataract, Vitreoretinopathy	ORPHA:250984
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Flexion contracture...	OMIM:609260
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Congenital Hydrocephalus	Macular hypoplasia, Iris coloboma, Optic atrophy	ORPHA:2185
Neurodegeneration With Brain Iron Accumulation	Retinopathy, Optic atrophy	ORPHA:385
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Retinal arteriolar constriction, Papilledema	OMIM:124950
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Coloboma, Optic atrophy	OMIM:274270
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia	ORPHA:104
Posterior Column Ataxia With Retinitis Pigmentosa	Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Joint contracture of the hand, Campt...	OMIM:609033
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy	OMIM:619389
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Autosomal Recessive Spastic Paraplegia Type 57	Abnormality of peripheral nerve conduction, Optic atrophy	ORPHA:431329
Pontocerebellar Hypoplasia, Type 1E	Knee flexion contracture, Elbow flexion contracture, Optic atrophy	OMIM:619303
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Optic atrophy	OMIM:309555
Bardet-Biedl Syndrome 9	Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:615986
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Inguinal hernia, Cataract, Decreased body weight	OMIM:618392
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia, Cataract	ORPHA:272
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Failure to thrive, Cataract, Chorioretinal coloboma	ORPHA:163937
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Inguinal hernia, Cataract, Umbilical hernia	ORPHA:1373
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Zika Virus Disease	Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro...	ORPHA:448237
Aniridia 1	Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,...	OMIM:106210
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d...	OMIM:152950
Retinitis Pigmentosa 78	Cystoid macular edema, Optic disc pallor	OMIM:617433
Enhanced S-Cone Syndrome	Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy	OMIM:268100
Usher Syndrome, Type 1M	Optic disc pallor, Drusen	OMIM:618632
Anterior Segment Dysgenesis 3	Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,...	OMIM:601631
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Retinal dystrophy, Optic disc pallor	OMIM:616079
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy	OMIM:618768
Retinitis Pigmentosa 1	Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re...	OMIM:180100
Leukodystrophy, Hypomyelinating, 22	Astigmatism, Flexion contracture, Optic disc pallor	OMIM:619328
Coats Disease	Leukocoria, Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Ceroid Lipofuscinosis, Neuronal, 1	Retinal degeneration, Macular degeneration, Flexion contracture, Optic atrophy	OMIM:256730
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye...	OMIM:311070
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop...	OMIM:602482
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Pierson Syndrome	Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi...	OMIM:609049
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Optic disc pallor	OMIM:613730
Gyrate Atrophy Of Choroid And Retina	Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch...	ORPHA:414
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pos...	OMIM:300424
Congenital Varicella Syndrome	Atypical scarring of skin, Cataract	ORPHA:291
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores...	OMIM:616170
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Abnormal vitreous humor morphology	OMIM:604841
Developmental And Epileptic Encephalopathy 93	Iris coloboma, Optic atrophy	OMIM:618012
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Chromosome Xp11.3 Deletion Syndrome	Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca...	OMIM:300578
Riboflavin Transporter Deficiency	Iris hypopigmentation, Abnormal autonomic nervous system physiology, Cachexia, Abnormal cranial n...	ORPHA:97229
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Usher Syndrome, Type Iiib	Optic disc pallor	OMIM:614504
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Joint contracture, Optic atrophy	OMIM:617481
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Iris coloboma, Chorioretinal coloboma, Retinal coloboma	ORPHA:2921
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology	ORPHA:90653
Maternally-Inherited Diabetes And Deafness	Cataract, Retinopathy, Abnormal chorioretinal morphology, Macular dystrophy	ORPHA:225
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea	ORPHA:3214
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Stiff Skin Syndrome	Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Lipodystrophy, Cataract	OMIM:184900
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Abnormality of retinal pigmentation	ORPHA:1264
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Optic atrophy	OMIM:270800
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Peroxisome Biogenesis Disorder 9B	Cataract, Rod-cone dystrophy	OMIM:614879
Martsolf Syndrome 2	Camptodactyly of finger, Decreased body weight, Camptodactyly, Developmental cataract, Cataract	OMIM:619420
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Macular edema, Weight loss, Anterior chamber flare, Posterior synechiae of t...	ORPHA:91500
Infantile Refsum Disease	Rod-cone dystrophy, Optic atrophy, Failure to thrive, Cataract, Facial palsy	ORPHA:772
Nance-Horan Syndrome	Retinal detachment, Cataract, Microcornea	ORPHA:627
Neonatal Adrenoleukodystrophy	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Oculo-Palato-Cerebral Syndrome	Leukocoria, Cataract, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Retinal dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:617547
Retinitis Pigmentosa 12	Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re...	OMIM:600105
Cataract 47	Cataract, Microcornea	OMIM:612018
Achondrogenesis Type 2	Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract	ORPHA:93296
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ...	OMIM:268315
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Obesity, Abnormality of retinal pigmentation, Keloids	ORPHA:3085
Warburg Micro Syndrome 1	Failure to thrive, Optic atrophy, Developmental cataract, Microcornea	OMIM:600118
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Linear Verrucous Nevus Syndrome	Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Leber Congenital Amaurosis 14	Rod-cone dystrophy, Retinal dystrophy, Optic disc pallor	OMIM:613341
Spondylometaphyseal Dysplasia, Axial	Rod-cone dystrophy, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy	OMIM:602271
Triple A Syndrome	Iris coloboma, Optic atrophy, Motor axonal neuropathy	ORPHA:869
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A...	ORPHA:54
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Srd5A3-Cdg	Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Cataract	ORPHA:324737
Lissencephaly 8	Cataract, Optic atrophy	OMIM:617255
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Optic atrophy	OMIM:618228
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Peripheral dysmyelination, Decreased nerve conduction velocity, Periph...	ORPHA:101082
Prune1-Related Neurological Syndrome	Cataract, Retinopathy, Optic atrophy	ORPHA:544469
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Failure to thrive	ORPHA:67048
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Spastic Paraplegia 75, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:616680
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Coloboma, Optic atrophy, Optic nerve hypoplasia, Cataract, Retinal detachment, Abno...	ORPHA:370959
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity	ORPHA:98890
Harel-Yoon Syndrome	Optic atrophy, Peripheral axonal neuropathy, Corneal opacity, Developmental cataract	OMIM:617183
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenuation of retina...	OMIM:619260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Coloboma, Corneal opacity	OMIM:613153
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu...	OMIM:604116
Spinocerebellar Ataxia 7	Macular degeneration, Pigmentary retinopathy, Optic atrophy	OMIM:164500
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Microphthalmia, Syndromic 5	Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract	OMIM:610125
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe...	OMIM:601552
Diencephalic Syndrome	Cachexia, Decreased body weight, Optic atrophy	ORPHA:1672
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Macular degeneration	OMIM:619780
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Cataract 16, Multiple Types	Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract	OMIM:613763
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Cataract, Flexion contracture, Peripheral axonal neuro...	OMIM:619851
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea	ORPHA:139471
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Cataract, Coloboma, Optic atrophy	OMIM:612379
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Mitochondrial Complex I Deficiency, Nuclear Type 7	Failure to thrive, Optic atrophy	OMIM:618229
Otodental Syndrome	Retinal coloboma, Microcornea, Lens coloboma, Iris coloboma, Cataract, Abnormal dental enamel mor...	ORPHA:2791
Jalili Syndrome	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme...	OMIM:217080
Joubert Syndrome 9	Retinal dystrophy, Astigmatism, Cataract	OMIM:612285
Pellagra-Like Syndrome	Cataract	OMIM:260650
Infantile Cerebellar-Retinal Degeneration	Failure to thrive, Retinal dystrophy, Decreased body weight, Optic atrophy	OMIM:614559
Muscle-Eye-Brain Disease	Cataract, Optic atrophy	ORPHA:588
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Galactose Mutarotase Deficiency	Failure to thrive, Cataract	ORPHA:570422
Hec Syndrome	Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology	ORPHA:2119
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Tortuosity of conjunctival vessels, Cataract, Macular degeneration	ORPHA:284289
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Retinal dystrophy, Failure to thrive, Cataract, Peripheral demyelination	OMIM:614877
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, Decrea...	ORPHA:457205
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal dysplasia, Cataract, Peters anomaly, Remnants of the hyaloid vasc...	OMIM:614643
Distal Monosomy 6P	Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea...	ORPHA:96125
Retinitis Pigmentosa 49	Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re...	OMIM:613756
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Optic nerve hypoplasia, Cataract, Peripheral axonal neuropathy, Corneal opacity	ORPHA:496790
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:290
Aniridia-Absent Patella Syndrome	Inguinal hernia, Cataract, Aniridia	ORPHA:1069
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Optic atrophy	OMIM:619425
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy	OMIM:612989
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract, Choroideremia	OMIM:116600
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Abnormal sensory nerve conduction velocity, Abnormality of peripheral nerves,...	ORPHA:88628
Leber Congenital Amaurosis 15	Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves...	OMIM:613843
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Spondylo-Ocular Syndrome	Retinal detachment, Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens	ORPHA:85194
Cataract 48	Cataract	OMIM:618415
Jalili Syndrome	Amelogenesis imperfecta, Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enam...	ORPHA:1873
4H Leukodystrophy	Cataract, Optic atrophy	ORPHA:289494
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Cataract	ORPHA:1856
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy	ORPHA:1914
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Proteus-Like Syndrome	Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Shagreen patch, Retina...	ORPHA:2969
Deafness, Dystonia, And Cerebral Hypomyelination	Failure to thrive, Optic atrophy	OMIM:300475
Congenital Disorder Of Glycosylation, Type Id	Flexion contracture, Optic atrophy, Joint contracture of the hand, Failure to thrive, Iris colobo...	OMIM:601110
Achromatopsia 2	Peripapillary atrophy, Retinal thinning, Dull foveal reflex, Hypoplasia of the fovea, Myopic asti...	OMIM:216900
Cln3 Disease	Cataract, Bull's eye maculopathy, Pigmentary retinopathy, Optic atrophy	ORPHA:228346
Sturge-Weber Syndrome	Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr...	ORPHA:3205
Refsum Disease, Classic	Retinal degeneration, Cataract, Rod-cone dystrophy	OMIM:266500
Walker-Warburg Syndrome	Optic atrophy, Retinal dystrophy, Abnormal optic nerve morphology, Microcornea, Retinal dysplasia...	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration, Cataract, Flexion contracture, Coloboma	OMIM:615249
Congenital Sialidosis Type 2	Cherry red spot of the macula, Optic atrophy, Developmental cataract, Inguinal hernia, Cataract, ...	ORPHA:93400
Juvenile Sialidosis Type 2	Cherry red spot of the macula, Optic atrophy, Inguinal hernia, Cataract, Corneal opacity, Umbilic...	ORPHA:93399
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Astigmatism, Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract	OMIM:600881
Null Syndrome	Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne...	ORPHA:280234
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C...	ORPHA:585
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Severe Oculo-Renal-Cerebellar Syndrome	Cataract, Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2715
Optic Atrophy 8	Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy	OMIM:616648
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Macular hypoplasia, Iris coloboma, Optic atrophy	OMIM:615219
Autosomal Recessive Spastic Paraplegia Type 75	Astigmatism, Temporal optic disc pallor	ORPHA:459056
Distal Monosomy 13Q	Iris coloboma, Optic atrophy	ORPHA:1590
Microcephaly, Amish Type	Failure to thrive, Hypoplasia of the fovea, Flexion contracture, Optic atrophy	OMIM:607196
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Retinal detachment	OMIM:219250
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Pelvis-Shoulder Dysplasia	Iris coloboma, Optic disc coloboma, Opacification of the corneal stroma	OMIM:169550
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Flexion contracture, Decreased body weight, Optic atrophy, Small for gestational age, Failure to ...	OMIM:618346
Alg8-Cdg	Retinopathy, Optic atrophy, Abnormality of subcutaneous fat tissue, Small for gestational age, Ca...	ORPHA:79325
Amaurosis-Hypertrichosis Syndrome	Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy	ORPHA:1021
Rhizomelic Chondrodysplasia Punctata, Type 2	Flexion contracture, Zonular cataract, Optic nerve hypoplasia, Inguinal hernia, Cataract, Failure...	OMIM:222765
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Cataract	ORPHA:1366
Vici Syndrome	Abnormal macular morphology, Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1493
Full Nf2-Related Schwannomatosis	Bilateral vestibular schwannoma, Facial palsy, Retinal hamartoma, Epiretinal membrane, Posterior ...	ORPHA:637
Canavan Disease	Flexion contracture, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Enamel hypoplasia, Optic atrophy, Scarring alopecia of scalp, Astigmatism, Cataract, Ectopia pupi...	OMIM:618727
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Astigmatism, Rod-cone dystrophy, Unilateral facial palsy, Optic atrophy	OMIM:618547
Congenital Tufting Enteropathy	Corneal erosion, Weight loss, Punctate keratitis, Failure to thrive, Cataract, Optic disc coloboma	ORPHA:92050
Coenzyme Q10 Deficiency, Primary, 2	Obesity, Overweight, Optic atrophy	OMIM:614651
Wolfram Syndrome 1	Cataract, Pigmentary retinopathy, Optic atrophy	OMIM:222300
Crouzon Syndrome	Conjunctivitis, Iris coloboma, Optic atrophy	ORPHA:207
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Trisomy 13	Hernia, Optic atrophy, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract, Abnormal retinal ...	ORPHA:3378
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Optic nerve dysplasia, Joint contracture of the hand, Camptodactyly, Failure to...	OMIM:214110
Donnai-Barrow Syndrome	Hypoplasia of the iris, Retinal dystrophy, Congenital diaphragmatic hernia, Iris coloboma, Catara...	OMIM:222448
Short Syndrome	Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia of the ir...	ORPHA:3163
Warburg Micro Syndrome 3	Flexion contracture, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber...	OMIM:614222
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Opto-chiasmatic atrophy, Optic atrophy	OMIM:620089
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Flexion contracture, Motor axonal neuropathy, Optic atrophy, Sensory axonal neuropathy, Optic dis...	OMIM:609541
Norrie Disease	Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Cac...	ORPHA:649
Warburg Micro Syndrome 2	Flexion contracture, Optic atrophy, Developmental cataract, Microcornea, Cataract	OMIM:614225
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a...	ORPHA:1215
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy	OMIM:610651
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Alpha-Mannosidosis, Adult Form	Cataract, Optic disc pallor, Corneal opacity	ORPHA:309288
Autosomal Dominant Optic Atrophy, Classic Form	Cataract, Morning glory anomaly, Temporal optic disc pallor, Optic atrophy	ORPHA:98673
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Septo-optic dysplasia, Microcornea, Iris coloboma, Cataract	ORPHA:3301
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Multiple joint contractures, Optic atroph...	ORPHA:320406
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Axial Spondylometaphyseal Dysplasia	Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy, Retinal dystrophy, Cataract	ORPHA:168549
Warburg Micro Syndrome 4	Flexion contracture, Optic atrophy, Decreased motor nerve conduction velocity, Developmental cata...	OMIM:615663
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides...	OMIM:614077
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Optic atrophy, Facial palsy	OMIM:615085
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Choroideremia, Microcornea, Chorioretinal dystrophy, Failure to thrive, Abnormal o...	ORPHA:2707
Leber Optic Atrophy	Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy	OMIM:535000
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microcornea, Cataract, Retinal coloboma	ORPHA:2510
Phace Association	Horner syndrome, Optic atrophy, Developmental cataract, Optic nerve hypoplasia, Increased retinal...	OMIM:606519
Zellweger Syndrome	Brushfield spots, Posterior embryotoxon, Optic atrophy, Abnormal chorioretinal morphology, Failur...	ORPHA:912
Craniotelencephalic Dysplasia	Optic atrophy, Septo-optic dysplasia	ORPHA:1528
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Xfe Progeroid Syndrome	Enamel hypoplasia, Optic atrophy, Corneal scarring, Cachexia, Attenuation of retinal blood vessel...	OMIM:610965
Papillorenal Syndrome	Morning glory anomaly, Lens luxation, Macular degeneration, Cataract, Chorioretinal atrophy, Macu...	OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Buphthalmos, Cata...	OMIM:236670
Stromme Syndrome	Retinal vascular tortuosity, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, ...	OMIM:243605
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste...	OMIM:231550
Halperin-Birk Syndrome	Flexion contracture, Optic atrophy, Developmental cataract, Inguinal hernia, Congenital diaphragm...	OMIM:618651
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy	ORPHA:79095
Stt3B-Cdg	Failure to thrive, Optic atrophy	ORPHA:370924

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Gene: Agbl1 MGI:3646469

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Human diseases caused by Agbl1 mutations