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Gene: Stx5a MGI:1928483

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Gene Summary

Name:
syntaxin 5A
Synonyms:
syntaxin 5,  D19Ertd627e,  0610031F24Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased red blood cell distribution width Stx5atm1b(EUCOMM)Hmgu HET Early adult 8.67×10-05
abnormal retina blood vessel morphology Stx5atm1b(EUCOMM)Hmgu HET Early adult 1.33×10-07
abnormal retina vasculature morphology Stx5atm1b(EUCOMM)Hmgu HET Early adult 3.08×10-07
abnormal retina morphology Stx5atm1b(EUCOMM)Hmgu HET   Early adult 4.29×10-05
abnormal vitreous body morphology Stx5atm1b(EUCOMM)Hmgu HET Early adult 1.23×10-07
persistence of hyaloid vascular system Stx5atm1b(EUCOMM)Hmgu HET Early adult 1.84×10-13
abnormal optic disk morphology Stx5atm1b(EUCOMM)Hmgu HET Early adult 2.06×10-08
preweaning lethality, complete penetrance Stx5atm1b(EUCOMM)Hmgu HOM   Early adult 1.79×10-06
decreased total retina thickness Stx5atm1b(EUCOMM)Hmgu HET Early adult 3.34×10-06

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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 Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Stx5a 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 Stx5a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Iiaa
OMIM:620454

The table below shows human diseases predicted to be associated to Stx5a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... OMIM:616959
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:609923
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor OMIM:618511
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy OMIM:615043
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Congenital Glaucoma
Retinal detachment ORPHA:98976
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Cone-Rod Dystrophy 11
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy OMIM:610381
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Optic atrophy, P... OMIM:617087
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Optic Atrophy 14
Optic disc pallor OMIM:620550
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy OMIM:608611
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy OMIM:309555
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... OMIM:251270
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling, Peripheral axonal neuropathy OMIM:619389
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Camos Syndrome
Optic atrophy ORPHA:83472
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy, Vacuolated lymphoc... OMIM:204200
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology ORPHA:3151
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy OMIM:602271
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Merrf
Optic atrophy ORPHA:551
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy OMIM:619323
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy OMIM:620312
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Nanophthalmos 4
Optic disc drusen OMIM:615972
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Retinal degeneration OMIM:256730
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Optic Atrophy 16
Temporal optic disc pallor OMIM:620629
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Cherubism
Optic atrophy ORPHA:184
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Attenuation of retinal blood vessels OMIM:617082
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... OMIM:609260
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Iris coloboma, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy OMIM:620221
Combined Saposin Deficiency
Optic atrophy, Splenomegaly OMIM:611721
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Abetalipoproteinemia
Peripheral demyelination, Acanthocytosis, Retinopathy, Retinal degeneration OMIM:200100
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Abnormal autonomic n... OMIM:598500
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:615085
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor OMIM:616732
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Optic atrophy, Retinopathy, Macular atrophy OMIM:616171
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Thrombocytopenia, Anemia, Optic disc pallor, Facial... OMIM:611490
Aniridia 2
Optic atrophy, Aniridia, Iris coloboma OMIM:617141
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Retinal degenerati... OMIM:249270
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of the macula ORPHA:33445
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Optic atrophy OMIM:617086
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Nephronophthisis 14
Retinal degeneration OMIM:614844
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy OMIM:615035
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Wolfram-Like Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:411590
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma ORPHA:324416
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Coloboma Of Macula
Macular coloboma OMIM:120300
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Retinoschisis, Optic neuropathy, Chorioretinal atrophy OMIM:615651
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Thrombocytopenia, Megaloblastic anemia, Retinal dystrophy ORPHA:49827
Null Syndrome
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy OMIM:300983
Nephronophthisis 9
Anemia, Retinal degeneration OMIM:613824
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Sensory axonal neuropathy ORPHA:329314
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy OMIM:619470
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Decreased proportion of CD4-positive T cells ORPHA:477814
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Papilledema, Facial diplegia OMIM:122860
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Leber Optic Atrophy And Dystonia
Optic atrophy, Leber optic atrophy OMIM:500001
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Iris coloboma ORPHA:2185
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Salt And Pepper Developmental Regression Syndrome
Optic atrophy OMIM:609056
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy OMIM:619690
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Spastic Paraplegia 2, X-Linked
Optic atrophy OMIM:312920
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Retinal dystrophy OMIM:614559
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy OMIM:300475
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me... ORPHA:67042
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Microcytic anemia, Coloboma, Rod-cone dystrophy ORPHA:324737
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Optic Atrophy 1
Optic atrophy OMIM:165500
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Motor axonal neuropathy, Abnormal retinal nerve fiber layer morphology, Absent bra... ORPHA:1215
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy OMIM:610743
Fetal Cytomegalovirus Syndrome
Optic atrophy, Chorioretinitis, Splenomegaly, Anemia, Thrombocytopenia, Retinal hemorrhage ORPHA:294
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration OMIM:616896
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy OMIM:619057
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Leukodystrophy, Hypomyelinating, 21
Optic atrophy OMIM:619310
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:619686
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Rod-cone dystrophy OMIM:617276
Sarcosinemia
Optic atrophy ORPHA:3129
Macrophthalmia, Colobomatous, With Microcornea
Iris coloboma, Optic disc coloboma, Chorioretinal coloboma, Macular atrophy OMIM:602499
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology OMIM:605808
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Optic atrophy, Thrombocytopenia, Neutropenia ORPHA:289916
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Cherry red spot of the macula OMIM:615281
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Hepatosplenomegaly ORPHA:466794
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Macular atrophy, Iris coloboma, Retinal dystrophy OMIM:212550
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Leukopenia, Macrocytic anemia, Thrombocytopenia, Anemia ORPHA:27
Stt3B-Cdg
Optic atrophy, Thrombocytopenia ORPHA:370924
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Mitochondrial Complex I Deficiency, Nuclear Type 8
Optic disc pallor OMIM:618230
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Peripheral demyelination, Attenuation of retinal blood ves... OMIM:609033
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy OMIM:609541
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Thrombocytopenia OMIM:615597
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia ORPHA:272
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic atrophy OMIM:617954
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma OMIM:616722
Schindler Disease, Type I
Optic atrophy OMIM:609241
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Anemia OMIM:607115
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy OMIM:618688
Riboflavin Transporter Deficiency
Abnormality of macular pigmentation, Abnormal cranial nerve morphology, Abnormal autonomic nervou... ORPHA:97229
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Optic Pathway Glioma
Optic atrophy, Papilledema, Neurofibroma ORPHA:2086
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy OMIM:248000
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor OMIM:619170
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Sensory axonal neuropathy, Optic neuritis, Abnormal retinal morphology, Facial palsy ORPHA:254886
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
3-Methylglutaconic Aciduria Type 9
Optic atrophy ORPHA:505216
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... ORPHA:91495
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... OMIM:619649
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ... OMIM:619260
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor ORPHA:3173
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2801
Triple A Syndrome
Optic atrophy, Iris coloboma, Motor axonal neuropathy ORPHA:869
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Microcephaly, Amish Type
Hypoplasia of the fovea, Optic atrophy OMIM:607196
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Cranial nerve compression, Hepatos... OMIM:259710
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Autoimmune thrombocytop... OMIM:107320
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy ORPHA:1154
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor OMIM:619328
Lissencephaly 5
Optic atrophy OMIM:615191
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Rod-cone dystrophy, Decreased nerve conduction velocity OMIM:612674
Woods Syndrome
Optic atrophy OMIM:615236
Arts Syndrome
Optic atrophy OMIM:301835
Osteopetrosis, Autosomal Recessive 9
Anemia, Papilledema OMIM:620366
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:300578
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor OMIM:618240
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Peripheral axonal neuropathy ORPHA:401768
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Attenuation of retinal blood vessels OMIM:617166
Achromatopsia 2
Retinal thinning, Dull foveal reflex, Peripapillary atrophy, Hypoplasia of the fovea, Absent fove... OMIM:216900
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Spastic Paraplegia Type 2
Optic atrophy ORPHA:99015
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Retinopathy, Axonal degeneration OMIM:616811
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Retinal detachment, Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold OMIM:152950
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Krabbe Disease
Optic atrophy, Peripheral demyelination, Autoimmune thrombocytopenia, Decreased nerve conduction ... OMIM:245200
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor OMIM:616204
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Progressive Myoclonic Epilepsy Type 3
Optic atrophy ORPHA:263516
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm OMIM:210000
Norrie Disease
Retinal fold, Optic atrophy, Retinal dysplasia, Retinal detachment OMIM:310600
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor OMIM:613730
3-Methylglutaconic Aciduria, Type I
Optic atrophy OMIM:250950
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Optic atrophy, Coloboma OMIM:612379
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy OMIM:256000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Macular edema, Abnormal retinal vascular morphology, Retinal neovascularizatio... ORPHA:247691
Infantile Refsum Disease
Optic atrophy, Facial palsy, Rod-cone dystrophy ORPHA:772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Epiretinal membrane, Retinal perforation, Vitreous floaters, Papilledema, Opt... ORPHA:263479
Idiopathic Intracranial Hypertension
Papilledema ORPHA:238624
Albers-Schönberg Osteopetrosis
Anemia, Optic atrophy, Facial palsy, Abnormal leukocyte morphology ORPHA:53
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Facial palsy OMIM:608804
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degeneration/... OMIM:601152
Congenital Primary Aphakia
Aniridia, Retinal dysplasia, Retinal detachment, Optic disc coloboma ORPHA:83461
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Optic atrophy OMIM:610198
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy OMIM:144755
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy ORPHA:504476
Leukodystrophy, Hypomyelinating, 6
Optic atrophy OMIM:612438
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Cinca Syndrome
Abnormality of neutrophils, Pseudopapilledema, Leukocytosis, Splenomegaly, Anemia, Retrobulbar op... ORPHA:1451
Spinocerebellar Ataxia 13
Optic atrophy OMIM:605259
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic disc pallor, Optic neuropathy OMIM:618249
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial paralysis, Facial diplegia OMIM:613559
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Abnormal erythrocyte enzyme concentration or activity, Decreased motor nerve condu... ORPHA:1187
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Retinal dystrophy ORPHA:423479
Cerebral Visual Impairment
Optic atrophy, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc ratio, Optic ... ORPHA:447788
Leukodystrophy, Progressive, Early Childhood-Onset
Optic disc pallor OMIM:617762
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... OMIM:609049
L-2-Hydroxyglutaric Aciduria
Optic atrophy OMIM:236792
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy ORPHA:101076
Walker-Warburg Syndrome
Optic atrophy, Abnormal optic nerve morphology, Retinal detachment, Chorioretinal dysplasia, Reti... ORPHA:899
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:259700
Sturge-Weber Syndrome
Optic atrophy, Abnormal choroid morphology, Conjunctival telangiectasia, Abnormal retinal vascula... ORPHA:3205
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy OMIM:618233
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy OMIM:618868
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:2715
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, S... ORPHA:585
Distal Deletion 13Q
Optic atrophy, Iris coloboma ORPHA:1590
Muscle-Eye-Brain Disease
Optic atrophy ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Pigmentary retinopathy OMIM:613154
Atelis Syndrome 2
Anemia, Vitreous hemorrhage, Thrombocytopenia, Remnants of the hyaloid vascular system OMIM:620185
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Facial palsy OMIM:218400
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Motor axonal neuropathy ORPHA:289560
Full Nf2-Related Schwannomatosis
Abnormal optic nerve morphology, Peripheral schwannoma, Bilateral vestibular schwannoma, Neuroma,... ORPHA:637
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:614863
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Abnormal erythrocyte morphology, Acanthocytosis, Rod-cone ... ORPHA:96180
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Pigmentary retinopathy, Optic atrophy OMIM:617282
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Papilledema, Normochromic anemia OMIM:618775
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Triosephosphate Isomerase Deficiency
Normocytic anemia, Splenomegaly, Macrocytic anemia, Optic disc pallor, Hemolytic anemia, Chronic ... OMIM:615512
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Hepatosplenomegaly, Pancytopenia ORPHA:309288
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation ORPHA:320375
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:485421
Kenny-Caffey Syndrome, Type 2
Anemia, Retinal calcification, Papilledema OMIM:127000
Sympathetic Ophthalmia
Macular edema, Vitreous floaters, Papilledema, Retinal detachment, Retinal hemorrhage, Depigmente... ORPHA:79098
Dysosteosclerosis
Optic atrophy, Abnormal cranial nerve morphology ORPHA:1782
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Anemia, Optic atrophy, Pigmentary retinopathy ORPHA:436271
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Acanthocytosis, Retinal flecks, Re... ORPHA:157850
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
Roifman-Chitayat Syndrome