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Gene: Stx5a MGI:1928483

Gene Summary

Name:

syntaxin 5A

Synonyms:

syntaxin 5, D19Ertd627e, 0610031F24Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal retina morphology	Stx5a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.29×10^-05
abnormal vitreous body morphology	Stx5a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.23×10^-07
abnormal retina blood vessel morphology	Stx5a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.33×10^-07
abnormal retina vasculature morphology	Stx5a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.08×10^-07
decreased total retina thickness	Stx5a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.34×10^-06
abnormal optic disk morphology	Stx5a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.06×10^-08
increased red blood cell distribution width	Stx5a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.67×10^-05
preweaning lethality, complete penetrance	Stx5a^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.79×10^-06
persistence of hyaloid vascular system	Stx5a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.84×10^-13

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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

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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.

Human diseases associated with Stx5a (0 diseases)
Human diseases predicted to be associated with Stx5a (535 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	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
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Ceroid Lipofuscinosis, Neuronal, 9	Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy	OMIM:609055
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
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
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy	ORPHA:2253
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy	OMIM:618511
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:165300
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Spastic Paraplegia 57, Autosomal Recessive	Optic atrophy	OMIM:615658
Spastic Paraplegia 43, Autosomal Recessive	Optic atrophy	OMIM:615043
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy	OMIM:620086
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Optic Atrophy 6	Optic atrophy	OMIM:258500
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:614296
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
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	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy	ORPHA:320396
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy	OMIM:611726
Ribose 5-Phosphate Isomerase Deficiency	Optic atrophy	OMIM:608611
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Spasticity, Childhood-Onset, With Hyperglycinemia	Optic atrophy	OMIM:616859
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Optic atrophy	OMIM:309555
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Glaucoma 3, Primary Congenital, E	Increased cup-to-disc ratio	OMIM:617272
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor	OMIM:619389
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Camos Syndrome	Optic atrophy	ORPHA:83472
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	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy	ORPHA:2572
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Ceroid Lipofuscinosis, Neuronal, 3	Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degenera...	OMIM:204200
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia	ORPHA:104
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Autosomal Recessive Spastic Paraplegia Type 74	Peripheral axonal neuropathy, Optic atrophy	ORPHA:468661
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Merrf	Optic atrophy	ORPHA:551
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy	OMIM:618768
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Vacuolated lymphocytes, Optic atrophy, Retinal degeneration	OMIM:256730
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Developmental And Epileptic Encephalopathy 58	Optic atrophy	OMIM:617830
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy	OMIM:619323
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy	OMIM:620312
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
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
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Nanophthalmos 4	Optic disc drusen	OMIM:615972
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Peripheral axonal neuropathy, Optic atrophy	ORPHA:320360
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Cavitary Optic Disc Anomalies	Peripapillary atrophy	OMIM:611543
Spastic Paraplegia 45, Autosomal Recessive	Optic atrophy	OMIM:613162
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Attenuation of retinal blood vessels	OMIM:617082
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy	OMIM:619303
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma	ORPHA:1473
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy	ORPHA:1171
Cherubism	Optic atrophy	ORPHA:184
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy	OMIM:620221
Abetalipoproteinemia	Retinopathy, Peripheral demyelination, Retinal degeneration, Acanthocytosis	OMIM:200100
Nescav Syndrome	Peripheral axonal neuropathy, Optic atrophy	OMIM:614255
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Combined Saposin Deficiency	Splenomegaly, Optic atrophy	OMIM:611721
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys...	OMIM:598500
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Peripheral axonal neuropathy, Optic atrophy	OMIM:617207
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor	OMIM:616732
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Optic atrophy	OMIM:619425
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy	OMIM:258501
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocyt...	OMIM:611490
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy	OMIM:616171
Craniodiaphyseal Dysplasia	Optic atrophy	ORPHA:1513
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Optic atrophy	OMIM:274270
Aniridia 2	Aniridia, Optic atrophy, Iris coloboma	OMIM:617141
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:98890
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Neuroectodermal Melanolysosomal Disease	Macular dystrophy, Optic atrophy, Abnormal optic nerve morphology, Aplasia/Hypoplasia of the macula	ORPHA:33445
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic disc pallor, Optic atrophy	OMIM:617086
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc...	OMIM:249270
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation	OMIM:615035
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Developmental And Epileptic Encephalopathy 16	Optic atrophy	OMIM:615338
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Leber Congenital Amaurosis 16	Optic disc pallor	OMIM:614186
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Optic atrophy	ORPHA:411590
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy	OMIM:612989
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Retinal dysplasia	ORPHA:324416
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Coloboma Of Macula	Macular coloboma	OMIM:120300
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Leukoencephalopathy With Ataxia	Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy	OMIM:615651
Cataract 21, Multiple Types	Retinal detachment, Macular hypoplasia, Iris coloboma	OMIM:610202
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Optic Atrophy 1	Optic atrophy	OMIM:165500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal dystrophy, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy	ORPHA:329314
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy	OMIM:613672
Sclerosteosis	Optic atrophy, Facial palsy	ORPHA:3152
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy	OMIM:300983
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Optic atrophy	ORPHA:477814
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy	OMIM:619470
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Facial diplegia, Optic atrophy	OMIM:122860
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Mitochondrial Complex I Deficiency, Nuclear Type 7	Optic atrophy	OMIM:618229
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy	OMIM:613151
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Leber Optic Atrophy And Dystonia	Optic atrophy, Leber optic atrophy	OMIM:500001
Salt And Pepper Developmental Regression Syndrome	Optic atrophy	OMIM:609056
Brunet-Wagner Neurodevelopmental Syndrome	Optic atrophy	OMIM:619690
Mucolipidosis Iv	Optic atrophy, Retinal degeneration	OMIM:252650
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy	ORPHA:352682
Spastic Paraplegia 2, X-Linked	Optic atrophy	OMIM:312920
L-2-Hydroxyglutaric Aciduria	Optic atrophy	OMIM:236792
Congenital Primary Aphakia	Retinal dysplasia	ORPHA:83461
Van Buchem Disease	Optic atrophy from cranial nerve compression	OMIM:239100
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Diencephalic Syndrome	Optic atrophy	ORPHA:1672
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Infantile Cerebellar-Retinal Degeneration	Optic atrophy, Retinal dystrophy	OMIM:614559
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Developmental And Epileptic Encephalopathy 61	Optic atrophy	OMIM:617933
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral action potential amplitud...	ORPHA:457205
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma, Iris coloboma	OMIM:216820
Deafness, Dystonia, And Cerebral Hypomyelination	Optic atrophy	OMIM:300475
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy	OMIM:618236
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy	ORPHA:254343
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Rod-cone dystrophy	OMIM:617276
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy	ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy	OMIM:619057
Spastic Paraplegia 85, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:619686
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Leukodystrophy, Hypomyelinating, 21	Optic atrophy	OMIM:619310
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio	OMIM:618880
Spinocerebellar Ataxia 13	Optic atrophy	OMIM:605259
Sarcosinemia	Optic atrophy	ORPHA:3129
Macrophthalmia, Colobomatous, With Microcornea	Iris coloboma, Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
Wildervanck Syndrome	Pseudopapilledema, Facial palsy	ORPHA:3456
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Optic disc pallor	OMIM:615281
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma	OMIM:212550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Optic atrophy, Anemia, Neutropenia	ORPHA:289916
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Stt3B-Cdg	Optic atrophy, Thrombocytopenia	ORPHA:370924
Srd5A3-Cdg	Optic disc hypoplasia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dystrophy	ORPHA:324737
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Optic atrophy, Anemia, Leukopenia, Thrombocytopenia	ORPHA:27
Schindler Disease, Type I	Optic atrophy	OMIM:609241
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor	OMIM:618230
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Renal Coloboma Syndrome	Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia	ORPHA:1475
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Iris coloboma	OMIM:616722
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Retinal dysplasia	ORPHA:272
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Thrombocytopenia	OMIM:615597
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Hepatosplenomegaly	ORPHA:466794
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy	OMIM:609541
Multiple Mitochondrial Dysfunctions Syndrome 6	Optic atrophy	OMIM:617954
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Optic atrophy	OMIM:248000
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Abnormality of macular pigmentation, Abnormal autonomic nervous ...	ORPHA:97229
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Optic atrophy, Anemia, Neutropenia, Thrombocytopenia	ORPHA:79312
Cinca Syndrome	Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:607115
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Madras Motor Neuron Disease	Optic atrophy, Facial palsy	ORPHA:137867
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Optic atrophy	OMIM:618688
Neuronal Intranuclear Inclusion Disease	Optic atrophy	ORPHA:2289
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Optic Pathway Glioma	Papilledema, Neurofibroma, Optic atrophy	ORPHA:2086
Autosomal Recessive Progressive External Ophthalmoplegia	Abnormal retinal morphology, Facial palsy, Optic atrophy, Optic neuritis, Sensory axonal neuropathy	ORPHA:254886
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
3-Methylglutaconic Aciduria Type 9	Optic atrophy	ORPHA:505216
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor	OMIM:619170
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2801
Triple A Syndrome	Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra...	OMIM:619260
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at...	OMIM:259710
Antiphospholipid Syndrome, Familial	Retinal detachment, Autoimmune thrombocytopenia, Vitritis, Central retinal artery occlusion, Reti...	OMIM:107320
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor	ORPHA:3173
Microcephaly, Amish Type	Hypoplasia of the fovea, Optic atrophy	OMIM:607196
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy	OMIM:614651
Spinocerebellar Ataxia, Autosomal Recessive 28	Optic atrophy	OMIM:618800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Lissencephaly 5	Optic atrophy	OMIM:615191
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor	OMIM:619328
Krabbe Disease	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Autoimmune thromboc...	OMIM:245200
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Optic atrophy	ORPHA:1154
Arts Syndrome	Optic atrophy	OMIM:301835
Woods Syndrome	Optic atrophy	OMIM:615236
Brown-Vialetto-Van Laere Syndrome 2	Optic atrophy, Facial palsy	OMIM:614707
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Thrombocytopenia	OMIM:222300
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Osteopetrosis, Autosomal Recessive 9	Papilledema, Anemia	OMIM:620366
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Decreased nerve conduction velocity, Rod-cone dystrophy, Optic atrophy	OMIM:612674
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor	OMIM:618240
Developmental And Epileptic Encephalopathy 47	Optic disc pallor, Attenuation of retinal blood vessels	OMIM:617166
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Optic atrophy	ORPHA:1177
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Retinal fold	OMIM:152950
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Absent foveal reflex, Peripapillary atrophy, Dull fove...	OMIM:216900
Spastic Paraplegia Type 2	Optic atrophy	ORPHA:99015
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb...	ORPHA:423479
Spinocerebellar Ataxia, Autosomal Recessive 18	Optic disc pallor	OMIM:616204
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Combined Oxidative Phosphorylation Deficiency 29	Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy	OMIM:616811
Norrie Disease	Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia	OMIM:310600
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor	OMIM:613730
Behr Syndrome	Optic atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm	OMIM:210000
3-Methylglutaconic Aciduria, Type I	Optic atrophy	OMIM:250950
Progressive Myoclonic Epilepsy Type 3	Optic atrophy	ORPHA:263516
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Optic atrophy, Microcytic anemia	OMIM:612379
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Iris coloboma	OMIM:618012
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Macular edema,...	ORPHA:247691
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Infantile Refsum Disease	Rod-cone dystrophy, Optic atrophy, Facial palsy	ORPHA:772
Proximal Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Optic atrophy	ORPHA:401768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Optic atrophy, Facial palsy, Anemia	ORPHA:53
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Idiopathic Intracranial Hypertension	Papilledema	ORPHA:238624
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy, Facial palsy	OMIM:608804
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/...	OMIM:601152
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Optic atrophy	OMIM:610198
Hyperostosis Cranialis Interna	Optic atrophy, Facial palsy	OMIM:144755
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Leukodystrophy, Hypomyelinating, 6	Optic atrophy	OMIM:612438
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy	ORPHA:504476
Cinca Syndrome	Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly, Abnormal gran...	ORPHA:1451
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Peripheral axonal neuropathy, Optic atrophy	ORPHA:496756
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor...	ORPHA:263479
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Optic atrophy, Abnormal erythrocyte enzyme level, Abno...	ORPHA:1187
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c...	ORPHA:447788
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic atrophy, Optic neuropathy	OMIM:618249
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Facial paralysis, Thrombocytopenia	OMIM:259700
Combined Oxidative Phosphorylation Deficiency 7	Facial diplegia, Facial paralysis, Optic atrophy	OMIM:613559
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic...	OMIM:609049
Leukodystrophy, Progressive, Early Childhood-Onset	Optic disc pallor	OMIM:617762
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy	ORPHA:101076
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro...	ORPHA:3205
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy	OMIM:618233
Walker-Warburg Syndrome	Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abnormal optic ner...	ORPHA:899
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2715
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly	ORPHA:466934
Craniometaphyseal Dysplasia, Autosomal Recessive	Optic atrophy, Facial palsy	OMIM:218400
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Optic atrophy	OMIM:618868
Distal Deletion 13Q	Optic atrophy, Iris coloboma	ORPHA:1590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Muscle-Eye-Brain Disease	Optic atrophy	ORPHA:588
Multiple Sulfatase Deficiency	Splenomegaly, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve...	ORPHA:585
Atelis Syndrome 2	Vitreous hemorrhage, Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia	OMIM:620185
Maternal Uniparental Disomy Of Chromosome 4	Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary retinopathy, Rod-cone ...	ORPHA:96180
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Motor axonal neuropathy	ORPHA:289560
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Normochromic anemia, Thrombocytopenia	OMIM:618775
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy	OMIM:614863
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Splenomegaly, Normochr...	OMIM:615512
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Hepatosplenomegaly	ORPHA:309288
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:485421
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Autosomal Recessive Spastic Paraplegia Type 55	Decreased sensory nerve conduction velocity, Optic atrophy, Onion bulb formation, Optic neuropathy	ORPHA:320375
Dysosteosclerosis	Optic atrophy, Abnormal cranial nerve morphology	ORPHA:1782
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy, Anemia	ORPHA:436271
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro...	ORPHA:157850
Roifman-Chitayat Syndrome	Optic atrophy	OMIM:613328
Spinocerebellar Ataxia Type 13	Optic disc pallor, Optic atrophy	ORPHA:98768
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Anemia	OMIM:127000
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy	OMIM:610651
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Microcytic anemia	ORPHA:293967
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea...	ORPHA:892
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy	OMIM:259900
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma	OMIM:615219
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Anemia	OMIM:220110
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Motor axona...	OMIM:231550
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy	OMIM:261680
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le...	OMIM:259720
Peroxisome Biogenesis Disorder 1B	Rod-cone dystrophy, Optic atrophy	OMIM:601539
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination	OMIM:250100
Phace Association	Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome	OMIM:606519
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy	ORPHA:95433
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Optic atrophy	OMIM:609037
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor	OMIM:614195
Friedreich Ataxia	Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action...	OMIM:229300
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Optic nerve compression, Optic atrophy, Anemia	OMIM:612301
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy	OMIM:604121
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy	OMIM:260920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Coloboma, Retinal dys...	OMIM:236670
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Retinal vascular proliferation, Leukoc...	OMIM:308300
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy	OMIM:619471
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Optic atrophy	ORPHA:220295
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Cranial nerve compr...	ORPHA:2785
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Anemia	ORPHA:93325
Joubert Syndrome 21	Retinopathy, Splenomegaly, Optic atrophy, Megalopapilla	OMIM:615636
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Acanthocytosis	OMIM:234200
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Primary Hyperoxaluria	Retinopathy, Optic disc pallor, Optic atrophy, Choroidal neovascularization	ORPHA:416
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Coloboma, Hypoplasia of the retina, Retinal dysplasia, Retinal de...	OMIM:253280
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Chorioretinal atrophy, Vitreoretinopathy, Macular hypoplas...	OMIM:267750
Pineoblastoma	Papilledema, Retinoblastoma	ORPHA:251909
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy	ORPHA:397715
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,...	ORPHA:508498
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia	OMIM:619321
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:300166
Leptospirosis	Papilledema, Retinal hemorrhage, Chorioretinitis, Optic neuritis, Macular cotton wool spot, Throm...	ORPHA:509
Neuroocular Syndrome	Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology	ORPHA:96121

Histopathology

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

There is no histopathology data for Stx5a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Stx5a.

No publications found that use IMPC mice or data for Stx5a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Stx5a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Stx5a^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Stx5a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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