Gene Summary

Name:
neuroblastoma amplified sequence
Synonyms:
4933425L03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Nbastm1b(EUCOMM)Hmgu HOM   Early adult 0.000179
abnormal optic disk morphology Nbastm1b(EUCOMM)Hmgu HET Early adult 3.95×10-15
persistence of hyaloid vascular system Nbastm1b(EUCOMM)Hmgu HET Early adult 2.81×10-05
decreased total body fat amount Nbastm1b(EUCOMM)Hmgu HET   Early adult 1.12×10-05
abnormal retina blood vessel morphology Nbastm1b(EUCOMM)Hmgu HET Early adult 5.56×10-07
abnormal retina morphology Nbastm1b(EUCOMM)Hmgu HET Early adult 5.39×10-10
abnormal retina vasculature morphology Nbastm1b(EUCOMM)Hmgu HET Early adult 1.19×10-07
abnormal vitreous body morphology Nbastm1b(EUCOMM)Hmgu HET Early adult 4.35×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

Electrocardiogram (ECG)

Waveform Image

38 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy OMIM:614800
Infantile Liver Failure Syndrome 2
OMIM:616483

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

Disease Similarity of
phenotypes
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
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy 2
Optic atrophy OMIM:311050
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
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
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
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
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
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
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
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy, Claw hand deformity OMIM:618511
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy, Ankle flexion contracture, Knee flexion contracture OMIM:615043
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
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
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
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
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Autosomal Recessive Spastic Paraplegia Type 45
Flexion contracture of toe, Optic atrophy, Ankle flexion contracture, Knee flexion contracture ORPHA:320396
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
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
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
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
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Merrf
Multiple lipomas, Optic atrophy ORPHA:551
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
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
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Congenital Glaucoma
Retinal detachment ORPHA:98976
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Camptodactyly of finger, Flexion contracture of toe OMIM:619323
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
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
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Pontocerebellar Hypoplasia, Type 1E
Elbow flexion contracture, Optic atrophy, Knee flexion contracture OMIM:619303
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Camos Syndrome
Optic atrophy ORPHA:83472
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Optic atrophy OMIM:613162
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
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
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Autosomal Recessive Spastic Paraplegia Type 74
Peripheral axonal neuropathy, Optic atrophy ORPHA:468661
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Nescav Syndrome
Peripheral axonal neuropathy, Flexion contracture, Optic atrophy OMIM:614255
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Flexion contracture, Optic atrophy, Retinal degeneration OMIM:256730
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy OMIM:620312
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
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
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Peripheral axonal neuropathy, Optic atrophy ORPHA:320360
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
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
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy OMIM:620221
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes... ORPHA:1873
Cherubism
Optic atrophy ORPHA:184
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma ORPHA:1473
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Aniridia 2
Aniridia, Optic atrophy, Iris coloboma OMIM:617141
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
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
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Neuroectodermal Melanolysosomal Disease
Macular dystrophy, Optic atrophy, Abnormal optic nerve morphology, Aplasia/Hypoplasia of the macula ORPHA:33445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
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
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Combined Saposin Deficiency
Optic atrophy OMIM:611721
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Joint contracture, Optic atrophy OMIM:618324
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Optic atrophy OMIM:619470
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Optic atrophy ORPHA:411590
Spastic Paraplegia 2, X-Linked
Flexion contracture, Optic atrophy OMIM:312920
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Nephronophthisis 14
Retinal degeneration OMIM:614844
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
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
Optic Atrophy 1
Optic atrophy OMIM:165500
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Foot joint contracture, Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral a... ORPHA:457205
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
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Facial diplegia, Optic atrophy OMIM:122860
Cofs Syndrome
Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita, Optic atrophy, Camptodac... ORPHA:1466
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Canavan Disease
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy ORPHA:141
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Chorioretinal coloboma,... OMIM:212550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Leber Optic Atrophy And Dystonia
Optic atrophy, Leber optic atrophy OMIM:500001
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Optic atrophy OMIM:618237
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Van Buchem Disease
Optic atrophy from cranial nerve compression OMIM:239100
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Flexion con... OMIM:609033
L-2-Hydroxyglutaric Aciduria
Optic atrophy OMIM:236792
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Atypica... ORPHA:791
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Flexion contracture, Optic atrophy, Sensory axonal neuropathy, Motor axonal ne... OMIM:609541
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Retinal dystrophy OMIM:614559
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia ORPHA:272
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy OMIM:300475
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Retinal coloboma, Iris coloboma OMIM:216820
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Inguinal hernia, Optic atrophy, Congenital finger flexion contractures ORPHA:1154
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Rod-cone dystrophy OMIM:617276
Abetalipoproteinemia
Retinopathy, Peripheral demyelination, Retinal degeneration OMIM:200100
Spastic Paraplegia 85, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:619686
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Vaginal hernia ORPHA:3173
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy OMIM:619057
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Optic atrophy OMIM:618238
Leukodystrophy, Hypomyelinating, 21
Optic atrophy OMIM:619310
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy ORPHA:477814
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Spinocerebellar Ataxia 13
Optic atrophy OMIM:605259
Sarcosinemia
Optic atrophy ORPHA:3129
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Macrophthalmia, Colobomatous, With Microcornea
Iris coloboma, Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Microcephaly, Amish Type
Hypoplasia of the fovea, Flexion contracture, Optic atrophy OMIM:607196
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Flexion contracture OMIM:619328
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor OMIM:615281
Behr Syndrome
Achilles tendon contracture, Optic atrophy, Hypoplastic optic chiasm, Hamstring contractures, Add... OMIM:210000
Schindler Disease, Type I
Optic atrophy OMIM:609241
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Mitochondrial Complex I Deficiency, Nuclear Type 8
Optic disc pallor OMIM:618230
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Achilles tendon contracture, Rod-cone dystrophy, Optic atrophy OMIM:612674
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Flexion contracture OMIM:616204
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Abnormality of macular pigmentation, Abnormal autonomic nervous ... ORPHA:97229
Renal Coloboma Syndrome
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia ORPHA:1475
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy OMIM:618688
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Optic Pathway Glioma
Papilledema, Neurofibroma, Optic atrophy ORPHA:2086
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Arthrogryposis multiplex congenita, Peripheral axonal neurop... ORPHA:2254
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
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
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal dystrophy ORPHA:49827
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
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
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor OMIM:619170
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
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
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Flexion contracture, Optic atrophy OMIM:618346
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Multiple joint contractures, Optic atrophy ORPHA:504476
Arts Syndrome
Optic atrophy OMIM:301835
Woods Syndrome
Optic atrophy OMIM:615236
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Attenuation of retinal blood vessels OMIM:617166
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor OMIM:618240
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Retinal fold OMIM:152950
Srd5A3-Cdg
Optic atrophy, Rod-cone dystrophy, Optic disc hypoplasia, Coloboma ORPHA:324737
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Absent foveal reflex, Peripapillary atrophy, Dull fove... OMIM:216900
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Spastic Paraplegia Type 2
Optic atrophy ORPHA:99015
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
Stt3B-Cdg
Optic atrophy ORPHA:370924
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor OMIM:613730
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
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
Leukodystrophy, Progressive, Early Childhood-Onset
Optic disc pallor, Joint contracture OMIM:617762
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy OMIM:615597
Infantile Refsum Disease
Rod-cone dystrophy, Optic atrophy, Facial palsy ORPHA:772
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
Idiopathic Intracranial Hypertension
Papilledema ORPHA:238624
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... OMIM:601152
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy OMIM:144755
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Flexion contracture, Optic atrophy, Retinal dysplasia OMIM:613154
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy OMIM:616881
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Optic atrophy ORPHA:496756
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
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
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Aplasia/Hypoplasia of the optic nerve, Retinal dystrophy, Macular coloboma ORPHA:423479
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Multiple joint contractures, Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Limb joint contracture, Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Optic atrophy, Arthrogryposis multiplex congenita, Decreased sensory nerve cond... ORPHA:320375
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Walker-Warburg Syndrome
Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abnormal optic ner... ORPHA:899
Roifman-Chitayat Syndrome
Umbilical hernia, Optic atrophy OMIM:613328
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... ORPHA:3205
Dysosteosclerosis
Optic atrophy, Abnormal dental enamel morphology, Abnormal cranial nerve morphology ORPHA:1782
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2715
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
Osteopetrosis, Autosomal Recessive 9
Papilledema OMIM:620366
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... OMIM:603671
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:614863
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
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Enamel hypoplasia, Attenuation of r... OMIM:610965
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy OMIM:610651
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma OMIM:615219
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy OMIM:259900
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Motor axona... OMIM:231550
Phace Association
Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome OMIM:606519
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:250100
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy ORPHA:95433
Peroxisome Biogenesis Disorder 1B
Rod-cone dystrophy, Optic atrophy OMIM:601539
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system OMIM:620185
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Optic atrophy OMIM:609037
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Coloboma, Congenital ... OMIM:236670
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor OMIM:614195
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Contracture of the proximal interphalangeal joint of the 5... ORPHA:293967
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Optic disc coloboma, Opti... ORPHA:50
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy OMIM:604121
Von Hippel-Lindau Disease
Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea... ORPHA:892
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy OMIM:619471
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Scarring, Retinal vascular proliferation, Optic atro... OMIM:308300
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation, Hernia ORPHA:394
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy OMIM:614800
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema OMIM:127000
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Flexion contracture, Umbilical herni... OMIM:300166
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
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
Pineoblastoma
Papilledema, Retinoblastoma ORPHA:251909
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... ORPHA:508498
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Umbilical hernia... OMIM:619539
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:96121
Infantile Liver Failure Syndrome 2
OMIM:616483

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 Nbas

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 Nbas.

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

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
Nbastm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nbastm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Nbastm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter