Gene Summary

Name:
hemicentin 1
Synonyms:
EG545370,  LOC240793

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Hmcn1em1(IMPC)J HOM Early adult 5.24×10-06
cataract Hmcn1em1(IMPC)J HOM Early adult 9.68×10-08
abnormal optic disk morphology Hmcn1em1(IMPC)J HOM   Early adult 1.21×10-06

Download data as:  TSV  XLS

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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 Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Hmcn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hmcn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075

The table below shows human diseases predicted to be associated to Hmcn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Aniridia 3
Cataract OMIM:617142
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Immunodeficiency 8
Hyperactivity OMIM:615401
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Retinitis Pigmentosa 84
Cataract, Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Cataract, Per... OMIM:143200
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Optic Atrophy 2
Optic atrophy OMIM:311050
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy 5
Optic atrophy OMIM:610708
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract, Hyperactivity ORPHA:75858
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Developmental cataract, Optic atrophy ORPHA:2572
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Retinal detachment, Astigmatism, Lens subluxation, Mosaic ... OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Retinal detachment, Corneal guttata, Retinal dots... OMIM:193230
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Retinal detachment, Corneal opacity ORPHA:90654
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Galactosemia Iv
Cataract OMIM:618881
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Exfoliation Syndrome
Pseudoexfoliation, Retinal vein occlusion, Abnormality of the lens, Cataract, Phakodonesis, Lens ... OMIM:177650
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy, Attenuation of retinal ... OMIM:604393
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Rod-cone dystrophy, Cataract, Microcornea OMIM:619082
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Cataract, Retinal detachment, Corne... ORPHA:1473
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Galactosemia Ii
Cataract OMIM:230200
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 16, Multiple Types
Retinal dystrophy, Developmental cataract, Posterior polar cataract OMIM:613763
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cystoid macular edema, Cataract, Rod-cone ... OMIM:611040
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Cataract 47
Microcornea, Cataract OMIM:612018
Optic Atrophy 6
Optic atrophy OMIM:258500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:616469
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... OMIM:300476
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Retinitis Pigmentosa 23
Rod-cone dystrophy, Posterior subcapsular cataract OMIM:300424
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Corneal opacity, Optic disc hypoplasia, Periphera... ORPHA:137902
Leber Congenital Amaurosis
Cataract, Abnormality of retinal pigmentation, Abnormality of the optic disc, Keratoconus ORPHA:65
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Aniridia 2
Cataract, Aniridia OMIM:617141
Leber Congenital Amaurosis 9
Optic disc pallor, Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy OMIM:608553
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... ORPHA:2334
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... OMIM:204000
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Cataract, Macular degeneration, Optic atrophy OMIM:204200
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Optic Atrophy 9
Optic atrophy OMIM:616289
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Nathalie Syndrome
Cataract OMIM:255990
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Sensory axonal neuropathy, Optic atrophy ORPHA:329314
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy OMIM:619470
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy OMIM:300983
Cataract 11, Multiple Types
Cataract OMIM:610623
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased sensory nerve conduction velocity, Decreased number of peripheral... OMIM:609260
Proximal Myotonic Myopathy
Cataract ORPHA:606
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Camos Syndrome
Optic atrophy ORPHA:83472
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcaps... OMIM:615233
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormal anterior chamber morphology, Abnorma... ORPHA:98977
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels OMIM:248510
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor OMIM:268040
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic... OMIM:311070
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Optic atrophy ORPHA:496756
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy OMIM:274270
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Retinal vascular tortuosity, Optic atrophy ORPHA:104
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Retinal detachment, Cat... OMIM:152950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Nescav Syndrome
Peripheral axonal neuropathy, Optic atrophy OMIM:614255
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract OMIM:617304
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Onion bulb formation, Optic atrophy OMIM:615035
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Merrf
Optic atrophy ORPHA:551
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation ORPHA:3456
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Phenylketonuria
Attention deficit hyperactivity disorder, Cataract, Blue irides, Hyperactivity OMIM:261600
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Cataract, Rod-cone dystrophy,... OMIM:312600
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Retinal dystrophy, Hypoplasia of the retina, Microcoria OMIM:263100
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Retinal vasculitis, Retinal thinning, R... ORPHA:40923
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Fundus atrophy, Abnormal suspensory ligament of lens mo... ORPHA:67042
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Macular edema, Nuclear cataract, Increased cup-to-di... ORPHA:280914
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Optic atrophy ORPHA:178377
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cataract, Optic atrophy OMIM:614877
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Neuroectodermal Melanolysosomal Disease
Macular dystrophy, Aplasia/Hypoplasia of the macula, Optic atrophy, Abnormality of the optic nerve ORPHA:33445
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Keratoconus, Optic atrophy, Abnormal retinal vascu... ORPHA:791
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:1466
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Optic Atrophy 11
Hyperactivity, Facial diplegia, Optic atrophy OMIM:617302
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Subcapsular cataract, Abnormal macular morphology, Chorioretinal... ORPHA:414
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor ORPHA:3173
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Papilledema OMIM:122860
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Pellagra-Like Syndrome
Cataract OMIM:260650
Intermediate Uveitis
Macular scar, Optic neuritis, Band keratopathy, Vitreous haze, Cystoid macular edema, Cataract, P... ORPHA:279914
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the fovea, Hypoplasia of the iris, Cataract, Optic n... OMIM:106210
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Rod-cone dystrophy, Optic atrophy, Decreased nerve conduction velocity OMIM:612674
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Enhanced S-Cone Syndrome
Vitreoretinopathy, Cataract, Pigmentary retinopathy, Macular edema, Retinoschisis OMIM:268100
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Opacification of the corneal stroma, Corneal scarring, Hyperactivity, Abnorma... OMIM:256800
Retinitis Pigmentosa 58
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613617
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Cataract, Decreased sensory nerve conduction velocity, P... OMIM:609033
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Morning glory anomaly, Sclerocornea, Microcornea,... OMIM:612109
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Congenital Hydrocephalus
Iris coloboma, Macular hypoplasia, Optic atrophy ORPHA:2185
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, Abnormal peripheral action potential amplitude, Decreased nerve conduc... ORPHA:457205
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract OMIM:614879
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Sclerosteosis
Facial palsy, Optic atrophy ORPHA:3152
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Optic disc pallo... ORPHA:97229
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood... OMIM:300578
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Buph... ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:616680
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cataract, Optic nerve hypoplasia, Optic atrophy ORPHA:163937
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Optic disc pallor OMIM:619328
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity OMIM:618090
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Spastic Paraplegia Type 7
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder ORPHA:99013
Bardet-Biedl Syndrome 9
Retinal degeneration, Astigmatism, Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the... OMIM:615986
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy ORPHA:1021
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Cataract, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy ORPHA:369939
Leber Optic Atrophy
Leber optic atrophy, Optic neuropathy, Optic atrophy, Central retinal vessel vascular tortuosity OMIM:535000
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy OMIM:617481
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Retinal dysplasia, Optic atrophy ORPHA:272
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:44
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Papillorenal Syndrome
Morning glory anomaly, Cataract, Retinal detachment, Chorioretinal atrophy, Macular degeneration,... OMIM:120330
Infantile Refsum Disease
Facial palsy, Cataract, Optic atrophy, Rod-cone dystrophy ORPHA:772
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Absent brainstem audit... ORPHA:1215
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hyperopic astigmatism ORPHA:397973
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Srd5A3-Cdg
Rod-cone dystrophy, Cataract, Optic atrophy, Optic disc hypoplasia ORPHA:324737
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Retinal degeneration, Optic atrophy OMIM:214980
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides OMIM:615516
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Optic disc hypoplasia, Keratoconus, Optic atrophy, Attention deficit hype... ORPHA:401777
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atrophy ORPHA:496790
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy OMIM:619527
Hypervitaminosis A, Susceptibility To
Papilledema OMIM:240150
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Triple A Syndrome
Iris coloboma, Optic atrophy, Motor axonal neuropathy ORPHA:869
Optic Pathway Glioma
Neurofibromas, Optic atrophy, Papilledema ORPHA:2086
Mend Syndrome
Cataract, Hyperactivity OMIM:300960
Cerebral Visual Impairment
Optic nerve hypoplasia, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc rati... ORPHA:447788
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Iris hypopigmentation ORPHA:411515
Sturge-Weber Syndrome
Heterochromia iridis, Corneal dystrophy, Iris coloboma, Retinal detachment, Conjunctival telangie... ORPHA:3205
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Optic disc pallor, Attention deficit hyperactivity disorder, Rod-cone dys... ORPHA:216866
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Zika Virus Disease
Absent foveal reflex, Iris coloboma, Lens subluxation, Optic disc hypoplasia, Retinal pigment epi... ORPHA:448237
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, Optic disc pallor OMIM:617523
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Cataract, Geographic atrophy, Abnormal auditory evoked potentials, Optic di... OMIM:619260
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Muscle-Eye-Brain Disease
Cataract, Optic atrophy ORPHA:588
Leukodystrophy, Hypomyelinating, 2
Facial palsy, Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy OMIM:608804
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Microcornea, Cataract, Retinal dystrophy, Iris coloboma ORPHA:139471
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Microcornea, Cataract, Optic atrophy OMIM:614222
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Optic atrophy, Motor axonal neuropathy OMIM:609541
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy OMIM:615085
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Walker-Warburg Syndrome
Chorioretinal dysplasia, Abnormality of the optic nerve, Microcornea, Cataract, Retinal detachmen... ORPHA:899
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor OMIM:615281
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Optic atrophy, Astigmatism, Peters anomaly, Iris coloboma, Attention defi... ORPHA:494344
Osteopetrosis, Autosomal Recessive 4
Facial palsy, Optic disc pallor, Optic atrophy OMIM:611490
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy, Decreased number of peripheral my... ORPHA:320406
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy ORPHA:1914
Warburg Micro Syndrome 2
Microcornea, Cataract, Developmental cataract, Optic atrophy OMIM:614225
Dermoid Cysts, Familial Frontonasal
Papilledema OMIM:600679
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per... ORPHA:585
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy ORPHA:530983
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Retinal detachment, Optic nerve hypoplasia, Megalocornea, Optic atrophy, Abnormality ir... ORPHA:370959
Wolfram Syndrome, Mitochondrial Form
Abnormal autonomic nervous system physiology, Optic atrophy OMIM:598500
Madras Motor Neuron Disease
Facial palsy, Optic atrophy ORPHA:137867
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Hyperactivity, Abnormal autonomic nervous system physiology, Peripheral ... ORPHA:35069
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Hypoplasia of the fovea, Cataract, Corneal... ORPHA:93400
Microphthalmia, Syndromic 5
Retinal dystrophy, Cataract, Optic nerve hypoplasia, Microcornea OMIM:610125
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... OMIM:601152
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Abnormal macular morphology, Optic atrophy ORPHA:1493
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormal retinal vascular morphology ORPHA:2715
Hermansky-Pudlak Syndrome 8
Astigmatism, Optic disc pallor, Ocular albinism, Hypoplasia of the fovea OMIM:614077
Leber Optic Atrophy And Dystonia
Leber optic atrophy, Optic atrophy OMIM:500001
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract, Optic disc pallor ORPHA:309288
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Optic atrophy, Microcornea, Cataract, Iris coloboma ORPHA:3301
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Cataract, Corneal opacity, Optic atrophy ORPHA:93399
Hyperostosis Cranialis Interna
Facial palsy, Optic atrophy OMIM:144755
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Optic atrophy OMIM:617913
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic neuropathy, Optic atrophy OMIM:618249
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Cataract, Optic atrophy, Decreased nerve conduction velocity OMIM:610651
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Motor axonal neuropathy, O... OMIM:231550
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Epiretinal membrane, Phot... OMIM:616959
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Iris coloboma, Macular hypoplasia, Optic atrophy OMIM:615219
Histidinemia
Hyperactivity ORPHA:2157
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Phace Association
Developmental cataract, Optic nerve hypoplasia, Increased retinal vascularity, Horner syndrome, O... OMIM:606519
Charcot-Marie-Tooth Disease Type 4B2
Developmental glaucoma, Cataract, Myelin outfoldings, Decreased distal sensory nerve action poten... ORPHA:99956
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Posterior cortical cataract, Cataract,... ORPHA:67036
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Microcornea, Retinal coloboma ORPHA:2510
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae, Optic atrophy OMIM:618727
Knobloch Syndrome 1
Band keratopathy, Vitreoretinopathy, Developmental cataract, Persistent pupillary membrane, Perip... OMIM:267750
Chops Syndrome
Cataract, Optic atrophy OMIM:616368
Temtamy Preaxial Brachydactyly Syndrome
Abnormality of the optic disc, Abnormality of the lens, Optic atrophy ORPHA:363417
Stankiewicz-Isidor Syndrome
Abnormality of the optic disc, Hyperactivity OMIM:617516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic nerve hypoplasia, Retinal dysplasia, Retinal detachment, Peters anomaly, Corneal ... OMIM:236670
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Osteopetrosis, Autosomal Recessive 2
Facial paralysis, Cranial nerve compression, Optic atrophy OMIM:259710
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic neuropathy, Decreased motor nerve conduction velocity, Optic disc pallor ORPHA:101076
Legius Syndrome
Cataract, Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder ORPHA:137605
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormality of the optic disc, Congenital stationary night blindness, Decreased corneal thickness ORPHA:293967
Familial Dysautonomia
Orthostatic hypotension, Heterochromia iridis, Corneal opacity, Abnormal pupil morphology, Cornea... ORPHA:1764
Cerebrotendinous Xanthomatosis
Cataract, Optic disc pallor, Abnormality of central somatosensory evoked potentials OMIM:213700
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Onion bulb formation, Optic atrophy, Decreased sensory nerve conduction velocity ORPHA:320375
Norrie Disease
Abnormal vitreous humor morphology, Hypoplasia of the iris, Sclerocornea, Ectopia lentis, Catarac... ORPHA:649
Wolfram Syndrome 2
Optic neuropathy, Optic atrophy OMIM:604928
Joubert Syndrome 8
Pigmentary retinopathy, Optic disc pallor OMIM:612291
Incontinentia Pigmenti
Retinal vascular proliferation, Retinal hemorrhage, Hypoplasia of the fovea, Cataract, Retinal de... OMIM:308300
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Classic Homocystinuria
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Ectopia lentis ORPHA:394
Cockayne Syndrome Type 3
Corneal ulceration, Lentiglobus, Retinal degeneration, Retinal hemorrhage, Microcornea, Cataract,... ORPHA:90324
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Astigmatism, Retinal vascular tortuosity, Papilledema OMIM:619471
Oculoectodermal Syndrome
Microcornea, Astigmatism, Hyperactivity, Limbal dermoid, Opacification of the corneal stroma OMIM:600268
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Optic atrophy OMIM:610217
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Developmental cataract, Papilledema OMIM:127000
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy ORPHA:95433
Hyperoxaluria, Primary, Type I
Retinopathy, Optic neuropathy, Choroidal neovascularization, Retinal crystals, Optic atrophy OMIM:259900
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Optic atrophy ORPHA:314404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Retinal degeneration, Cataract, Retinal dysplasia, Retinal atrophy, Bup... OMIM:253280
Peroxisome Biogenesis Disorder 4B
Retinal dystrophy, Optic atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy OMIM:614863
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy OMIM:604121
7Q11.23 Microduplication Syndrome
Abnormality of the optic disc, Hyperactivity, Astigmatism ORPHA:96121
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Iritis, Papilledema OMIM:108050
Ramon Syndrome
Axenfeld anomaly, Pigmentary retinopathy, Optic disc pallor OMIM:266270
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Retinal dystrophy, Abnormality of the optic disc, Subretinal deposits ORPHA:397715
Meckel Syndrome
Sclerocornea, Microcornea, Cataract, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the... ORPHA:564
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Abnormality of the optic disc, Facial palsy, Iris coloboma ORPHA:508498
Tubulointerstitial Nephritis And Uveitis Syndrome
Retinal vasculitis, Anterior chamber flare, Chorioretinal scar, Cystoid macular edema, Abnormalit... ORPHA:91500
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Developmental cataract, Papilledema ORPHA:93325
Cancer-Associated Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Foveal hyporefl... ORPHA:71505

Histopathology