Gene Summary

Name:
ATP-binding cassette, sub-family B member 5
Synonyms:
9230106F14Rik

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.

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Viewing: all phenotypes
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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 Abcb5 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.

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

The table below shows human diseases predicted to be associated to Abcb5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Astigmatism, Retinal pigment epithelial mottling OMIM:300814
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Punctate opacification of the cornea, Corneal dyst... OMIM:217800
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p... OMIM:251270
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Crystalline corneal dystroph... ORPHA:41751
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation, Astigmatism OMIM:300843
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Exudative Vitreoretinopathy 5
Retinal exudate, Shallow anterior chamber, Tractional retinal detachment, Exudative vitreoretinop... OMIM:613310
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Retinal Dystrophy And Obesity
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P... OMIM:204000
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Neovascular Glaucoma
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... ORPHA:94058
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... OMIM:617304
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto... OMIM:618173
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613581
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613810
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Sjögren-Larsson Syndrome
Corneal erosion, Macular degeneration, Retinopathy, Abnormality of retinal pigmentation, Generali... ORPHA:816
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Vitreoretinochoroidopathy
Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc... OMIM:193220
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At... OMIM:618195
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic... ORPHA:364055
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Cone-Rod Dystrophy, X-Linked, 3
Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Ab... OMIM:300476
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... ORPHA:215
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:1466
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const... OMIM:600132
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ... ORPHA:79435
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Mixed astigmatism, Bone spicule pigmentation of the retina,... OMIM:617023
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Shallow anterior chamber, Macular atrophy OMIM:267760
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr... OMIM:305390
Retinitis Pigmentosa 37
Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Rod-cone dystroph... OMIM:611131
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal dystrophy, Atten... OMIM:617547
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:613983
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:616469
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Ramon Syndrome
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation ORPHA:3019
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opti... OMIM:615233
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar... OMIM:615986
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79434
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:44
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia ORPHA:324416
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus, Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Oculocutaneous Albinism Type 2
Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hypopigmentation... ORPHA:79432
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Pigmentary retinopathy ORPHA:3363
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Corneal opacity ORPHA:290
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Conjunctivitis, Abs... ORPHA:448237
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro... OMIM:300578
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract OMIM:616562
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Abnormality of retinal pigmentation ORPHA:3085
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Shallow anterior chamber, Chorioretinal coloboma, Optic disc coloboma, Flat cornea, ... OMIM:602499
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon... ORPHA:791
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:300029
Waardenburg-Shah Syndrome
Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor... ORPHA:897
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Laurence-Moon Syndrome
Chorioretinal atrophy, Pigmentary retinopathy OMIM:245800
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Mulibrey Nanism
Corneal dystrophy, Astigmatism, Pigmentary retinopathy, Iris coloboma OMIM:253250
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Multiple Sulfatase Deficiency
Optic atrophy, Corneal opacity, Abnormality of retinal pigmentation, Cataract, Abnormality of per... ORPHA:585
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Retinopathy, Cataract, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ... OMIM:268315
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Astigmatism ORPHA:1824
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal retinal ... ORPHA:2715
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Vici Syndrome
Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Cataract, Abnor... ORPHA:1493
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Cone-Rod Dystrophy 2
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... OMIM:120970
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris coloboma, Posterior synechiae of the anteri... OMIM:612109
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals, Retinal degeneration OMIM:210370
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina... ORPHA:5
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Retinal atrophy, Corneal opacity, Cone/cone-rod dystrophy, Abnormality of retin... ORPHA:85167
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Abnormal sensory nerve conduction velocity, Cataract, Ro... ORPHA:88628
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the retina ORPHA:100996
Leber Congenital Amaurosis 15
Posterior subcapsular cataract, Optic disc pallor, Attenuation of retinal blood vessels, Peripapi... OMIM:613843
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane... OMIM:221900
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Abnormal vitreous humor morphology, Hypopyon, Posterior ... ORPHA:209959
Micro Syndrome
Optic atrophy, Microcornea, Retinal coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:2510
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation, Cataract ORPHA:773
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Pigmentary retinopathy OMIM:605231
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Developmental cataract, Posterior synechiae of the anterior cha... OMIM:613154
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy ORPHA:79095
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Cataract, Freckling, Pigmentary retinopathy OMIM:610651
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Wolfram Syndrome 1
Optic atrophy, Cataract, Pigmentary retinopathy OMIM:222300
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Retinal pigment epithelial mottling OMIM:614105
Antiphospholipid Syndrome, Familial
Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Keratitis, Vitr... OMIM:107320
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyper... ORPHA:2481
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Pigmentary retinopathy OMIM:613156
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the... OMIM:612582
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy ORPHA:79264
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy ORPHA:216866
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... OMIM:601777
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Usher Syndrome
Cataract, Abnormality of retinal pigmentation, Astigmatism ORPHA:886
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Brushfield spots, Cataract, Opacification of the corneal stroma, Pigmentar... OMIM:214110
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Bardet-Biedl Syndrome 17
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ... OMIM:615994
Joubert Syndrome 3
Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c... ORPHA:79098
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Keratoconjunctivitis, Vitiligo, Cataract, Perifoveal ring of hyperautofluorescence, Pigmentary re... OMIM:240300
Brittle Cornea Syndrome 1
Red hair, Keratoglobus, Keratoconus, Decreased corneal thickness, Abnormal cornea morphology OMIM:229200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Joubert Syndrome 8
Pigmentary retinopathy, Optic disc pallor OMIM:612291
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Retinal detachment, Ectopia lentis, Abnormality of retinal pigmentation, Cataract ORPHA:394
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Pigmentary retinopathy OMIM:614230
Retinoblastoma
Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero... ORPHA:790
Werner Syndrome
Cataract, Premature graying of hair, Abnormality of retinal pigmentation, White forelock ORPHA:902
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Aganglionic megacolon, Astigmatism, Retinal dystrophy, H... OMIM:209900
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:192
Cohen Syndrome
Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretin... ORPHA:193
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal optic nerve mor... ORPHA:2526
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Corneal crystals, Pigmentary retinopathy ORPHA:411629
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Optic disc pallor, Pigmentary retinopathy OMIM:617282
Cockayne Syndrome Type 1
Optic atrophy, Hypermelanotic macule, Absent brainstem auditory responses, Conjunctivitis, Catara... ORPHA:90321
Aceruloplasminemia
Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation ORPHA:48818
Ramon Syndrome
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Peters anomaly, Pigmentary retinopathy, Iris coloboma OMIM:309801
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Cockayne Syndrome
Optic atrophy, Decreased nerve conduction velocity, Keratoconjunctivitis sicca, Retinal dystrophy... ORPHA:191
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystro... ORPHA:2556
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M... ORPHA:1969
Trisomy 18
Cataract, Microcornea, Abnormality of retinal pigmentation, Iris coloboma ORPHA:3380
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Cataract, Opacification of the corneal stroma, Optic di... OMIM:214100
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Retinal pi... OMIM:618733
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ... ORPHA:157850
Abetalipoproteinemia
Corneal ulceration, Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone... ORPHA:14
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Brushfield spots, Cataract, Opacification of the corneal st... OMIM:614866
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Corneal opacity, Retinopathy, Abnormal foveal... ORPHA:580
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Decreased distal sensory nerve action potential, Abnormality of peripheral somatosensory evoked p... ORPHA:466768
Khan-Khan-Katsanis Syndrome
Buphthalmos, Peters anomaly, Corneal scarring, Pigmentary retinopathy OMIM:618460
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Iris nevus, Cystoid macular edema, Chorioretinal scar, Anterior cha... ORPHA:91500
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Alagille Syndrome 1
Abnormal anterior chamber morphology, Band keratopathy, Chorioretinal atrophy, Microcornea, Axenf... OMIM:118450
Mucopolysaccharidosis Type 3
Optic atrophy, Corneal opacity, Cataract, Opacification of the corneal stroma, Retinal degenerati... ORPHA:581
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Neurofibromatosis Type 1
Hypopigmented skin patches, Inguinal freckling, Corneal opacity, Heterochromia iridis, Generalize... ORPHA:636
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Retinal atrophy, Abnormal auditory evoked pot... OMIM:216400
Aicardi Syndrome
Optic atrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal pigme... ORPHA:50
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality... ORPHA:217085
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Microcornea, Abnormal auditory evoked potenti... OMIM:133540
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality... ORPHA:217093
Spondylocarpotarsal Synostosis Syndrome
Cataract, Abnormality of retinal pigmentation OMIM:272460
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Hypopigmentation of hair, Hypopigmentation of the skin, Larg... ORPHA:167
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Conjunctivitis ORPHA:505248
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Retinal pigment epithelial mottling OMIM:607459
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Corneal neovascularization, Pigmentary retinopathy, Corneal scarring, Cone/cone-ro... ORPHA:404454
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Alstrom Syndrome
Cone/cone-rod dystrophy, Subcapsular cataract, Attenuation of retinal blood vessels, Pigmentary r... OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Cystinosis, Nephropathic
Recurrent corneal erosions, Hypopigmentation of hair, Hypopigmentation of the skin, Retinopathy, ... OMIM:219800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Abnormality of macular pigmentation, Retinal degeneration, Pigme... ORPHA:79282
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Cafe-au-lait spot, Retinal pigment epithelial mottling, Progressive ... OMIM:251260
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:255210
Melas
Optic atrophy, Vitiligo, Pigmentary retinopathy ORPHA:550
Pearson Syndrome
Hyperpigmentation of the skin, Corneal stromal edema, Cafe-au-lait spot, Cataract, Pigmentary ret... ORPHA:699
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Hyperpigmentation of the skin OMIM:234200
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Atypical Werner Syndrome
Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Developmental cat... ORPHA:79474
Lipodystrophy, Familial Partial, Type 7
Cataract, Developmental cataract, Orthostatic hypotension, Pigmentary retinopathy OMIM:606721
Proteus Syndrome
Retinal hamartoma, Irregular hyperpigmentation, Buphthalmos, Retinal nonattachment, Multiple cafe... ORPHA:744
Hardikar Syndrome
Lacrimal duct stenosis, Pigmentary retinopathy OMIM:301068
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Optic disc hypoplasia, Corneal opacity, Cataract, Pigmentary retinopathy ORPHA:3455

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 Abcb5

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 Abcb5.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Abcb5em1(IMPC)Wtsi PMC7263671

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Abcb5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Abcb5em1(IMPC)Wtsi Exon Deletion Mice
Abcb5tm384702(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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