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Gene: Etfb MGI:106098

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Gene Summary

Name:
electron transferring flavoprotein, beta polypeptide
Synonyms:
0610009I16Rik,  2810441H06Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased spleen weight Etfbem1(IMPC)Hmgu HET Early adult 1.17×10-14
preweaning lethality, complete penetrance Etfbem1(IMPC)Hmgu HOM   Early adult 4.24×10-06
persistence of hyaloid vascular system Etfbem1(IMPC)Hmgu HET Early adult 1.07×10-06
increased heart weight Etfbem1(IMPC)Hmgu HET Early adult 1.82×10-06
abnormal optic disk morphology Etfbem1(IMPC)Hmgu HET Early adult 9.70×10-05
abnormal retina vasculature morphology Etfbem1(IMPC)Hmgu HET Early adult 2.20×10-09
abnormal retina morphology Etfbem1(IMPC)Hmgu HET Early adult 1.34×10-06

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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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death OMIM:231680

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
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
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Usher Syndrome, Type 1M
Optic disc pallor, Left ventricular hypertrophy, Drusen OMIM:618632
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor OMIM:618511
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy OMIM:615043
Ethanolaminosis
Cardiomegaly OMIM:227150
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:611721
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy OMIM:602271
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Optic atrophy, P... OMIM:617087
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Optic Atrophy 14
Optic disc pallor OMIM:620550
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal degeneration... OMIM:204200
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... OMIM:251270
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy OMIM:309555
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling, Peripheral axonal neuropathy OMIM:619389
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Facial palsy OMIM:615085
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Camos Syndrome
Optic atrophy ORPHA:83472
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ... OMIM:611490
Merrf
Optic atrophy ORPHA:551
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... OMIM:609260
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology ORPHA:3151
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor OMIM:612989
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Retinal degeneration OMIM:256730
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy OMIM:620312
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Retinopath... ORPHA:251380
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... OMIM:616959
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive ... OMIM:249270
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Attenuation of retinal blood vessels OMIM:617082
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Situs inversus totalis, Rod-cone dystrophy, Macular atrophy OMIM:615434
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Nephronophthisis 14
Situs inversus totalis, Retinal degeneration OMIM:614844
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Iris coloboma, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Hepatomegaly, Diffuse hepatic steatosis OMIM:264470
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy OMIM:620221
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Optic atrophy, Retinopathy, Macular atrophy OMIM:616171
Aniridia 2
Optic atrophy, Aniridia, Iris coloboma OMIM:617141
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Mi... OMIM:616648
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Optic atrophy OMIM:618236
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of the macula ORPHA:33445
Congenital Hydrocephalus
Abnormal heart morphology, Optic atrophy, Iris coloboma, Macular hypoplasia ORPHA:2185
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Congenital Toxoplasmosis
Ascites, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytop... ORPHA:858
Fetal Cytomegalovirus Syndrome
Optic atrophy, Hepatitis, Retinal hemorrhage, Chorioretinitis, Splenomegaly, Anemia, Thrombocytop... ORPHA:294
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Optic atrophy, Hepatosplenomegaly ORPHA:466794
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor OMIM:616732
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Cone/cone-rod dystrophy OMIM:614979
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618229
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Optic atrophy OMIM:617086
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombocyto... ORPHA:49827
Sarcosinemia
Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis ORPHA:3129
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia,... ORPHA:79312
Attrv30M Amyloidosis
Cardiomegaly, Abnormal autonomic nervous system physiology, Vitreous floaters, Cardiomyopathy ORPHA:85447
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration OMIM:300438
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Motor axonal neuropathy, Abnormal retinal nerve fiber layer morpho... ORPHA:1215
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Hepatic steatosis, Cardiomyopathy ORPHA:26792
Null Syndrome
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Mucolipidosis Iv
Optic atrophy, Abnormal abdomen morphology, Retinal degeneration OMIM:252650
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Optic disc pallor, Left ventricular hypertrophy, Optic atrophy OMIM:618228
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ventricular septal defect OMIM:613730
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Microcephaly, Amish Type
Hepatomegaly, Hypoplasia of the fovea, Optic atrophy OMIM:607196
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Abnormal autonomic n... OMIM:598500
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Decreased proportion of CD4-positive T cells ORPHA:477814
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Lymphadenopathy, Anemia OMIM:607115
Leber Optic Atrophy And Dystonia
Optic atrophy, Leber optic atrophy OMIM:500001
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration OMIM:616896
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion OMIM:614702
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me... ORPHA:67042
Mitochondrial Complex I Deficiency, Nuclear Type 8
Optic disc pallor, Pancreatitis OMIM:618230
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Cardiomyopathy, Leukopenia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytope... ORPHA:27
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:289916
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy OMIM:610743
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Optic disc pallor ORPHA:3173
Infantile Refsum Disease
Optic atrophy, Cardiomyopathy, Rod-cone dystrophy, Hepatomegaly, Facial palsy ORPHA:772
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Dilated cardiomyopathy ORPHA:272
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Retinopat... OMIM:603903
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Woods Syndrome
Optic atrophy, Ventricular septal defect OMIM:615236
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Peripheral demyelination, Attenuation of retinal blood ves... OMIM:609033
Refsum Disease, Classic
Cardiomegaly, Rod-cone dystrophy, Cardiomyopathy, Retinal degeneration OMIM:266500
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Rod-cone dystrophy OMIM:617276
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Microcytic anemia, Coloboma, Rod-cone dystrophy ORPHA:324737
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Left ventricular hypertrophy ORPHA:401866
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Joubert Syndrome 8
Hepatomegaly, Optic disc pallor, Pigmentary retinopathy, Prolonged neonatal jaundice OMIM:612291
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy OMIM:609541
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Cherry red spot of the macula OMIM:615281
Optic Pathway Glioma
Optic atrophy, Papilledema, Neurofibroma ORPHA:2086
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Cranial nerve compression, Hepatos... OMIM:259710
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ... OMIM:619260
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Dilated cardiomyopathy, Normochromic microcytic anemia, Microvesicular hepatic ste... OMIM:610198
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction, S... ORPHA:585
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... ORPHA:91495
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Cinca Syndrome
Abnormality of neutrophils, Pseudopapilledema, Leukocytosis, Splenomegaly, Anemia, Lymphadenopath... ORPHA:1451
Stt3B-Cdg
Optic atrophy, Thrombocytopenia ORPHA:370924
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Lipemia retinalis, Splenomegaly OMIM:207750
Juvenile Sialidosis Type 2
Optic atrophy, Visceromegaly, Cherry red spot of the macula, Abnormal heart morphology, Hepatospl... ORPHA:93399
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... OMIM:619649
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nodular regenerative hyperplasia of liver, Macular edema, Abnormality of the h... ORPHA:247691
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Thrombocytopenia OMIM:615597
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2801
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:300578
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Rod-cone dystrophy, Decreased nerve conduction velocity OMIM:612674
Congenital Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Abnormal heart morphology, Ascites, Hepatosplenomeg... ORPHA:93400
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Coach Syndrome 1
Hepatic fibrosis, Abnormal abdomen morphology, Intrahepatic bile duct dilatation, Portal hyperten... OMIM:216360
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Left ventricular hy... OMIM:619167
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy, Hepatomegaly OMIM:601539
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Retinopathy, Axonal degeneration OMIM:616811
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Distal Deletion 13Q
Optic atrophy, Iris coloboma, Abnormal cardiac septum morphology ORPHA:1590
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomega... OMIM:259700
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy, Hepatomegaly, Retinal dys... OMIM:614863
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Sideroblastic anemia, Megaloblastic anemia... OMIM:222300
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Epiretinal membrane, Retinal perforation, Vitreous floaters, Papilledema, Opt... ORPHA:263479
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degeneration/... OMIM:601152
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Optic atrophy, Hepatic steatosis, Increased hepatic echogenicity OMIM:261680
Norrie Disease
Retinal fold, Optic atrophy, Retinal dysplasia, Retinal detachment OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Papilledema, Thrombocytop... OMIM:618775
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Hepatosplenomegaly, Pancytopenia ORPHA:309288
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Attenuation of retinal blood vessels, Leukocytosis,... OMIM:610377
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Rod-cone dystroph... OMIM:260920
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Osteopetrosis, Autosomal Recessive 9
Anemia, Papilledema OMIM:620366
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Chorioretinal coloboma, Macular hypoplasia, Atrial septal defect, Right atrial enl... OMIM:615219
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic disc pallor, Optic neuropathy OMIM:618249
Congenital Primary Aphakia
Aniridia, Retinal dysplasia, Retinal detachment, Optic disc coloboma ORPHA:83461
Dysosteosclerosis
Optic atrophy, Abnormal cranial nerve morphology, Ventricular septal defect ORPHA:1782
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Abnormal optic disc morphology, Ventricular septal defect OMIM:617516
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy ORPHA:504476
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Jaundice, Prol... OMIM:615512
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Anemia, Hepatomegaly, Diffuse... ORPHA:436271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect,... OMIM:253800
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... OMIM:609049
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Absent brainstem a... ORPHA:79330
Sturge-Weber Syndrome
Optic atrophy, Abnormal choroid morphology, Conjunctival telangiectasia, Abnormal retinal vascula... ORPHA:3205
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Macular edema, Polycythemia, Cardiomyopathy, Neoplasm of the pancre... ORPHA:892
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Optic nerve compression, Splenomegaly, Anemia, Hepatomegaly OMIM:612301
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Thrombocytopenia, Anemia, Supravalv... OMIM:620185
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Cholecystitis, Gall... OMIM:250100
Full Nf2-Related Schwannomatosis
Abnormal optic nerve morphology, Peripheral schwannoma, Bilateral vestibular schwannoma, Neuroma,... ORPHA:637
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Papilledema, Pancreatitis, Atrial septal defect, Rod-cone dystrophy OMIM:619471
Phace Association
Optic atrophy, Ventricular septal defect, Horner syndrome, Increased retinal vascularity, Optic n... OMIM:606519
Biotinidase Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:253260
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Mucopolysaccharidosis Type 2
Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Decrea... ORPHA:580
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Pigmentary retinopathy OMIM:613154
Sympathetic Ophthalmia
Macular edema, Vitreous floaters, Papilledema, Retinal detachment, Retinal hemorrhage, Depigmente... ORPHA:79098
Cancer-Associated Retinopathy
Optic atrophy, Thymoma, Foveal hyporeflective spaces on macular OCT, Pancreatic adenocarcinoma, R... ORPHA:71505
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Cardiomyopathy, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormal pulm... ORPHA:217085
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Abnormal optic disc morphology, Congenital stationary night blindness ORPHA:293967
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Motor axona... OMIM:231550
Joubert Syndrome 21
Optic atrophy, Retinopathy, Splenomegaly, Megalopapilla OMIM:615636
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Tetralogy of Fallot, Atrioventricular canal defect, Exocrine pancreatic insuffi... ORPHA:508498
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Retinal crystals, Retinopathy, Optic neuropathy OMIM:259900
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Kenny-Caffey Syndrome, Type 2
Anemia, Retinal calcification, Papilledema OMIM:127000
Leptospirosis
Hepatitis, Macular cotton wool spot, Chorioretinitis, Retinal hemorrhage, Optic neuritis, Papille... ORPHA:509
Lymphangioleiomyomatosis
Optic atrophy, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymp... ORPHA:538
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
Norrie Disease
Optic atrophy, Abnormal vitreous humor morphology, Abnormal retinal vascular morphology, Retinal ... ORPHA:649
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Single ventricle, Cyclopia, Iris... OMIM:157170
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Abnormal optic disc morphology, Atrial septal defect, Ventricular septal d... ORPHA:96121
Pineoblastoma
Papilledema, Retinoblastoma ORPHA:251909
Neuroocular Syndrome 1
Patent foramen ovale, Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens colo... OMIM:619539
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death OMIM:231680

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 Etfb

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 Etfb.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Etfbtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Etfbtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Etfbem1(IMPC)Hmgu Intra-exon deletion Mice

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