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Gene: Abcb5 MGI:1924956

Gene Summary

Name:

ATP-binding cassette, sub-family B (MDR/TAP), member 5

Synonyms:

9230106F14Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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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.

Human diseases associated with Abcb5 (0 diseases)
Human diseases predicted to be associated with Abcb5 (378 diseases)

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	Matching phenotypes	Source
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Choroidal Dystrophy, Central Areolar, 1	Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy	OMIM:215500
Blue Cone Monochromatism	Corneal dystrophy, Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 36	Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:610599
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re...	OMIM:613830
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation	ORPHA:1852
Choroideremia	Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath...	OMIM:303100
Sorsby Pseudoinflammatory Fundus Dystrophy	Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ...	ORPHA:59181
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Retinitis Pigmentosa 9	Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e...	OMIM:180104
Retinitis Pigmentosa 4	Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten...	OMIM:613731
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto...	ORPHA:75377
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Astigmatism, Pigmentary retinopathy	OMIM:268060
Macular Dystrophy, Retinal, 2	Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal...	OMIM:608051
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Cone-Rod Dystrophy 16	Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo...	OMIM:614500
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Retinitis Pigmentosa 84	Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618220
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst...	OMIM:217800
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi...	ORPHA:97341
Familial Drusen	Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin...	ORPHA:75376
Retinopathy, Pericentral Pigmentary, Dominant	Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:180210
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal ...	OMIM:251270
Leber Congenital Amaurosis 2	Cataract, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Attenuation of ...	OMIM:204100
Bietti Crystalline Dystrophy	Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn...	ORPHA:41751
Retinitis Pigmentosa 13	Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen...	OMIM:600059
Liberfarb Syndrome	Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ...	OMIM:618889
Leber Congenital Amaurosis 8	Cataract, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atrophy, Nummul...	OMIM:613835
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Central Retinal Vein Occlusion	Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m...	ORPHA:411527
Retinitis Pigmentosa 30	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:607921
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of th...	OMIM:611040
Retinitis Pigmentosa 57	Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613582
Nanophthalmos	Abnormal choroid morphology, Abnormality of retinal pigmentation	ORPHA:35612
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Cataract 21, Multiple Types	Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme...	OMIM:610202
Stickler Syndrome Type 2	Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy	ORPHA:90654
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,...	OMIM:610359
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal ...	OMIM:616108
Bornholm Eye Disease	Astigmatism, Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 32	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the...	OMIM:609913
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene...	ORPHA:85128
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Morning Glory Disc Anomaly	Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation	ORPHA:35737
Exudative Vitreoretinopathy 5	Retinal exudate, Tractional retinal detachment, Shallow anterior chamber, Falciform retinal fold,...	OMIM:613310
Birdshot Chorioretinopathy	Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d...	ORPHA:179
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Cone-Rod Dystrophy 5	Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy	OMIM:600977
Coats Disease	Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ...	ORPHA:190
Retinitis Pigmentosa 86	Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:618613
Leber Congenital Amaurosis 9	Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina...	OMIM:608553
Reticular Dystrophy Of Retinal Pigment Epithelium	Pigmentary retinopathy, Abnormality of retinal pigmentation	OMIM:179840
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Megalocornea	Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ...	OMIM:309300
Retinitis Pigmentosa 62	Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:614181
Cataract 50 With Or Without Glaucoma	Cataract, Retinal detachment, Persistent pupillary membrane	OMIM:620253
Leber Congenital Amaurosis 1	Cataract, Pigmentary retinopathy, Fundus atrophy, Keratoconus, Attenuation of retinal blood vesse...	OMIM:204000
Retinitis Pigmentosa 11	Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen...	OMIM:600138
Leber Congenital Amaurosis	Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation	ORPHA:65
Retinitis Pigmentosa 54	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone...	OMIM:617871
Retinitis Pigmentosa 46	Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrop...	OMIM:612572
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho...	OMIM:312600
Retinal Dystrophy And Obesity	Peripapillary atrophy, Astigmatism, Retinal detachment, Retinal dots, Attenuation of retinal bloo...	OMIM:616188
Vitreoretinal Degeneration, Snowflake Type	Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina...	OMIM:193230
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Glaucoma 3, Primary Congenital, E	Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio	OMIM:617272
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Retinitis Pigmentosa 76	Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni...	OMIM:617123
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy	ORPHA:75373
Retinitis Pigmentosa 77	Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r...	OMIM:617304
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence...	OMIM:620102
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Stargardt Disease	Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti...	ORPHA:827
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Retinitis Pigmentosa 56	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:613581
Retinitis Pigmentosa 83	Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret...	OMIM:618173
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r...	OMIM:614292
Retinitis Pigmentosa 27	Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment...	OMIM:613750
Senior-Loken Syndrome	Retinal dystrophy, Cataract, Abnormality of retinal pigmentation	ORPHA:3156
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy	OMIM:615725
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Retinitis Pigmentosa 90	Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess...	OMIM:619007
Retinitis Pigmentosa 10	Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re...	OMIM:180105
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation	ORPHA:171844
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation	ORPHA:1259
Neovascular Glaucoma	Retinal vascular proliferation, Retinal detachment, Abnormal anterior chamber morphology, Abnorma...	ORPHA:94058
Pigmented Paravenous Chorioretinal Atrophy	Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina	OMIM:172870
Ring Dermoid Of Cornea	Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma...	OMIM:180550
Achromatopsia	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina...	ORPHA:49382
Retinitis Pigmentosa 80	Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617781
Retinoschisis 1, X-Linked, Juvenile	Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re...	OMIM:312700
Exudative Vitreoretinopathy 7	Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:617572
Sjögren-Larsson Syndrome	Corneal erosion, Macular degeneration, Abnormality of retinal pigmentation, Retinopathy, Generali...	ORPHA:816
Vitreoretinochoroidopathy	Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ...	OMIM:193220
Retinitis Pigmentosa 28	Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:606068
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Pigmentosa 43	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:613810
Retinitis Pigmentosa 25	Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:602772
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 88	Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ...	OMIM:618826
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,...	OMIM:601718
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Corne...	ORPHA:1473
Retinitis Pigmentosa 73	Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm...	OMIM:616544
Congenital Primary Aphakia	Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, R...	ORPHA:83461
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the ...	OMIM:618195
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Abnormality of retinal pigmentation	ORPHA:1264
Usher Syndrome, Type Iv	Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin...	OMIM:618144
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli...	OMIM:304020
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret...	OMIM:618697
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti...	ORPHA:364055
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Cofs Syndrome	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal opacity, Corneal dystrophy	OMIM:300779
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ...	ORPHA:79435
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Retinitis Pigmentosa	Cataract, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Keratoconus,...	ORPHA:791
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Astigmatism, Retinal detachment, Optic disc pallor, Abnormality of macul...	OMIM:300476
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Retinitis Pigmentosa 79	Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati...	OMIM:617460
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Shallow anterior chamber, Macular atrophy, Cystoid macular degeneration, Retinal degeneration	OMIM:267760
Retinitis Pigmentosa 75	Mixed astigmatism, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:617023
Exudative Vitreoretinopathy 2, X-Linked	Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det...	OMIM:305390
Enhanced S-Cone Syndrome	Cataract, Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema	OMIM:268100
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:617547
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Nuclear cataract, Rod-cone dystrophy, Poste...	OMIM:611131
Retinitis Pigmentosa 72	Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:616469
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,...	OMIM:613983
Retinitis Pigmentosa 1	Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:180100
Ramon Syndrome	Abnormal anterior chamber morphology, Abnormality of retinal pigmentation	ORPHA:3019
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation ...	OMIM:615233
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Heterochromia iridis, Abnormality of retinal pigmentation	ORPHA:1390
Cataract-Microcornea Syndrome	Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea	ORPHA:1377
Exudative Vitreoretinopathy 6	Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ...	OMIM:616468
Exudative Vitreoretinopathy 1	Peripheral retinal avascularization, Vitreous floaters, Subcapsular cataract, Retinal exudate, Re...	OMIM:133780
Retinitis Punctata Albescens	Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy...	ORPHA:52427
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Corneal crystals	OMIM:219900
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Amoebic Keratitis	Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta...	ORPHA:67043
Autosomal Dominant Keratitis	Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal...	ORPHA:2334
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the...	OMIM:612095
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Subcapsular cataract, Retinal exudate, Tractional retinal de...	OMIM:601813
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia	Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Chorioretinal colob...	ORPHA:137902
Bardet-Biedl Syndrome 9	Cataract, Astigmatism, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:615986
Retinitis Pigmentosa 12	Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:600105
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ...	OMIM:604116
Ectopia Lentis Et Pupillae	Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir...	OMIM:225200
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme...	ORPHA:79434
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis	ORPHA:324416
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Macular degeneration, Optic atrophy	OMIM:164500
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys...	ORPHA:231736
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation	ORPHA:2196
Neonatal Adrenoleukodystrophy	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Mucolipidosis Type Iv	Retinopathy, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:578
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Buphthalmos, Chor...	OMIM:212550
Oculocutaneous Albinism Type 2	Blue irides, Hypoplasia of the fovea, Absent skin pigmentation, Iris hypopigmentation, Freckling,...	ORPHA:79432
Norrie Disease	Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hypoplasia of...	OMIM:310600
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:290
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin...	OMIM:145350
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Zika Virus Disease	Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Optic disc hypoplasia, Retinal pi...	ORPHA:448237
Arthrogryposis, Distal, Type 5	Keratoglobus, Astigmatism, Abnormality of retinal pigmentation, Keratoconus, Retinal fold	OMIM:108145
Posterior Column Ataxia With Retinitis Pigmentosa	Cataract, Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Bone spicule pigme...	OMIM:609033
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Retinitis Pigmentosa 74	Pigmentary retinopathy, Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy	OMIM:616562
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C...	ORPHA:98964
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Abnormality of retinal pigmentation	ORPHA:3085
Jalili Syndrome	Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,...	OMIM:217080
Chromosome Xp11.3 Deletion Syndrome	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic atrophy, Rod-cone d...	OMIM:300578
Retinitis Pigmentosa 58	Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:613617
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Macular degeneration, Abnormality of retinal pigmentation, Retinal arter...	OMIM:605549
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy, Iris coloboma, Flat cornea, Shallow anterior chamber, Chorioretinal coloboma, Op...	OMIM:602499
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, Aganglionic megacolon, Abnormality of ret...	ORPHA:897
Retinitis Pigmentosa 49	Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:613756
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Anterior synechiae of the anterior chamber, Hypoplasia of the iris, Scle...	OMIM:604229
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Narp Syndrome	Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d...	ORPHA:644
Joubert Syndrome 28	Pigmentary retinopathy, Optic disc pallor	OMIM:617121
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Mulibrey Nanism	Astigmatism, Pigmentary retinopathy, Iris coloboma, Corneal dystrophy	OMIM:253250
Corneal Dystrophy, Fuchs Endothelial, 1	Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen...	OMIM:136800
Linear Verrucous Nevus Syndrome	Cataract, Iris coloboma, Aplasia/Hypoplasia of the fovea, Abnormal cornea morphology, Retinopathy	ORPHA:2611
Heimler Syndrome 1	Retinal pigment epithelial mottling, Macular dystrophy	OMIM:234580
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Multiple Sulfatase Deficiency	Cataract, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction, Cornea...	ORPHA:585
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rod-cone dys...	OMIM:268315
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy	OMIM:616722
Lowry-Wood Syndrome	Astigmatism, Abnormality of retinal pigmentation	ORPHA:1824
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation	ORPHA:1433
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Posterior Polymorphous Corneal Dystrophy	Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,...	ORPHA:98973
Bilateral Acute Depigmentation Of The Iris	Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph...	ORPHA:69736
Severe Oculo-Renal-Cerebellar Syndrome	Cataract, Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retina...	ORPHA:2715
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Vici Syndrome	Cataract, Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation of t...	ORPHA:1493
Cln3 Disease	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Optic atrophy	ORPHA:228346
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Corneal opacity, Optic disc c...	OMIM:120200
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi...	ORPHA:284454
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Bietti Crystalline Corneoretinal Dystrophy	Corneal crystals, Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Oculoauricular Syndrome	Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Morning glory anomaly, Cone/cone-rod dyst...	OMIM:612109
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Macular hyperpigmentation, Bone spicule pigmentation of the retina, Reti...	OMIM:120970
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormal chorioretinal morphology, Retinopathy, Chorioretinal atrophy, Abnormality of retinal pig...	ORPHA:5
Congenital Muscular Dystrophy With Intellectual Disability	Facial palsy, Pigmentary retinopathy	ORPHA:370968
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Abnormal sensory nerve conduction velocity, Pigmentary retinopathy, Bone spicule pigmen...	ORPHA:88628
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Yellow/white lesions of the retina, Retinal flecks	ORPHA:100996
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Ab...	ORPHA:85167
Leber Congenital Amaurosis 15	Peripapillary atrophy, Dull foveal reflex, Pigmentary retinopathy, Optic disc pallor, Retinal deg...	OMIM:613843
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Persistent Hyperplastic Primary Vitreous	Cataract, Tractional retinal detachment, Buphthalmos, Persistent pupillary membrane, Shallow ante...	ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Re...	OMIM:221900
Leigh Syndrome With Leukodystrophy	Pigmentary retinopathy, Optic atrophy	ORPHA:255241
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,...	OMIM:613270
Micro Syndrome	Cataract, Retinal coloboma, Abnormality of retinal pigmentation, Optic atrophy, Microcornea	ORPHA:2510
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Refsum Disease	Cataract, Retinopathy, Abnormality of retinal pigmentation	ORPHA:773
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Phacoanaphylactic Uveitis	Retinal arteritis, Vitreoretinopathy, Anterior chamber flare grade 1+, Abnormal pupil morphology,...	ORPHA:209959
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Coats Disease	Retinal telangiectasia, Exudative retinal detachment, Leukocoria	OMIM:300216
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Retinal dysplasia, Developme...	OMIM:613154
Wolfram Syndrome 1	Cataract, Pigmentary retinopathy, Optic atrophy	OMIM:222300
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Retinal pigment epithelial mottling	OMIM:614105
Neurocutaneous Melanocytosis	Numerous congenital melanocytic nevi, Abnormality of retinal pigmentation, Chorioretinal coloboma...	ORPHA:2481
Xeroderma Pigmentosum, Complementation Group B	Cataract, Freckling, Pigmentary retinopathy, Decreased nerve conduction velocity, Optic atrophy	OMIM:610651
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy	ORPHA:79095
Antiphospholipid Syndrome, Familial	Central retinal artery occlusion, Retinal detachment, Iritis, Vitritis, Keratitis, Retinal vascul...	OMIM:107320
Anterior Segment Dysgenesis 7	Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C...	OMIM:269400
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Cornea Plana 2, Autosomal Recessive	Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea	OMIM:217300
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
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ...	OMIM:217700
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Opacification of the corneal stroma, Posterior embryotoxon, Axenfeld anom...	OMIM:612582
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Opacification of the c...	OMIM:214110
Cone-Rod Dystrophy 6	Macular atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:601777
Vernal Keratoconjunctivitis	Abnormal conjunctiva morphology, Corneal neovascularization, Abnormal cornea morphology, Punctate...	ORPHA:70476
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration	ORPHA:79264
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy	ORPHA:216866
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Granular Corneal Dystrophy Type I	Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog...	ORPHA:98962
Bardet-Biedl Syndrome 17	Macular atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Bone spicule pigmentation of the ...	OMIM:615994
Usher Syndrome	Cataract, Astigmatism, Abnormality of retinal pigmentation	ORPHA:886
Corneal Dystrophy, Posterior Polymorphous, 1	Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,...	OMIM:122000
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Neurotrophic Keratopathy	Corneal perforation, Corneal ulceration, Abnormal fifth cranial nerve morphology, Recurrent corne...	ORPHA:137596
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Generalized Eruptive Keratoacanthoma	Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis	ORPHA:411777
Anterior Segment Dysgenesis 2	Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio...	OMIM:610256
Brittle Cornea Syndrome 1	Keratoglobus, Decreased corneal thickness, Keratoconus, Red hair, Abnormal cornea morphology	OMIM:229200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Keratoconjunctivitis, Vitiligo, Pigmentary retinopathy, Perifoveal ring of hyperautoflu...	OMIM:240300
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Pigmentary retinopathy, Sclerocornea	OMIM:614230
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Classic Homocystinuria	Cataract, Ectopia lentis, Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:394
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Retinal calcification, Abnormality of retinal pigmentat...	ORPHA:790
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De...	OMIM:617315
Werner Syndrome	Cataract, Premature graying of hair, White forelock, Abnormality of retinal pigmentation	ORPHA:902
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye macul...	OMIM:216550
Bardet-Biedl Syndrome 1	Cataract, Astigmatism, Hyperautofluorescent macular lesion, Aganglionic megacolon, Retinal degene...	OMIM:209900
Coffin-Lowry Syndrome	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Cohen Syndrome	Chorioretinal dystrophy, Iris coloboma, Abnormality of retinal pigmentation, Optic atrophy, Abnor...	ORPHA:193
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Pigmentary retinopathy, Corneal crystals	ORPHA:411629
Alstrom Syndrome	Subcapsular cataract, Pigmentary retinopathy, Cone/cone-rod dystrophy	OMIM:203800
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Chorioretinal dysplasia, Retinal detachment, Retinopathy, Abnormality of retinal pigmen...	ORPHA:2526
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Pigmentary retinopathy, Optic disc pallor, Optic atrophy	OMIM:617282
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Ramon Syndrome	Pigmentary retinopathy, Optic disc pallor, Axenfeld anomaly	OMIM:266270
Cockayne Syndrome Type 1	Cataract, Absent brainstem auditory responses, Hypermelanotic macule, Pigmentary retinopathy, Abn...	ORPHA:90321
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Iris coloboma, Pigmentary retinopathy, Sclerocornea, Peters anomaly	OMIM:309801
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Microphthalmia With Linear Skin Defects Syndrome	Chorioretinal dysplasia, Hypopigmented skin patches, Abnormality of retinal pigmentation, Vitriti...	ORPHA:2556
Cockayne Syndrome	Cataract, Retinal hemorrhage, Corneal ulceration, Retinal atrophy, Lentiglobus, Pigmentary retino...	ORPHA:191
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Melanocytic nevus, Abnormality of reti...	ORPHA:1969
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Trisomy 18	Cataract, Microcornea, Iris coloboma, Abnormality of retinal pigmentation	ORPHA:3380
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Brushfield spots, Pigmentary retinopathy, Optic disc pallor, Opacification of the corne...	OMIM:214100
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling, Decreased amplitude of sensory action...	OMIM:618733
Abetalipoproteinemia	Corneal ulceration, Hypopigmentation of the fundus, Keratoconjunctivitis sicca, Abnormality of re...	ORPHA:14
Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Bull's eye maculopathy, Retinal degeneration, Optic atrophy, Rod-cone dys...	ORPHA:157850
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Brushfield spots, Cataract, Pigmentary retinopathy, Optic nerve dysplasia, Opacification of the c...	OMIM:614866
Neurofibromatosis Type 1	Cataract, Freckling, Hypopigmented skin patches, Abnormality of retinal pigmentation, Multiple ca...	ORPHA:636
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cataract, Abnormal motor nerve conduction velocity, Abnormality of retinal pigmentation, Abnormal...	ORPHA:466768
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Mucopolysaccharidosis Type 2	Papilledema, Decreased nerve conduction velocity, Abnormality of retinal pigmentation, Retinal de...	ORPHA:580
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Khan-Khan-Katsanis Syndrome	Corneal scarring, Pigmentary retinopathy, Peters anomaly, Buphthalmos	OMIM:618460
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Optic disc pallor	ORPHA:502423
Alagille Syndrome 1	Cataract, Pigmentary retinopathy, Abnormal anterior chamber morphology, Band keratopathy, Microco...	OMIM:118450
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Tubulointerstitial Nephritis And Uveitis Syndrome	Cataract, Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, A...	ORPHA:91500
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal coloboma, Optic disc colob...	ORPHA:50
Mucopolysaccharidosis Type 3	Cataract, Pigmentary retinopathy, Retinal degeneration, Corneal opacity, Opacification of the cor...	ORPHA:581
Autosomal Dominant Cerebellar Ataxia	Pigmentary retinopathy, Macular degeneration, Retinal degeneration	ORPHA:99
Cockayne Syndrome A	Cataract, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Decreased...	OMIM:216400
Chédiak-Higashi Syndrome	Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ...	ORPHA:167
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Retinal pigment epithelial mottling	OMIM:607459
Cockayne Syndrome B	Pigmentary retinopathy, Decreased nerve conduction velocity, Hypoplasia of the iris, Abnormal aud...	OMIM:133540
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Corneal opacity, Re...	ORPHA:217085
Spondylocarpotarsal Synostosis Syndrome	Cataract, Abnormality of retinal pigmentation	OMIM:272460
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Corneal opacity, Re...	ORPHA:217093
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Conjunctivitis, Abnormality of retinal pigmentation	ORPHA:505248
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Corneal scarring, Pigmentary retinopathy, Optic disc pallor, Optic atrop...	ORPHA:404454
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Cystinosis, Nephropathic	Recurrent corneal erosions, Pigmentary retinopathy, Retinal pigment epithelial mottling, Corneal ...	OMIM:219800
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pigmentary retinopathy, Retinal degeneration, Abnormality of macular pigmentation, Macular colobo...	ORPHA:79282
Nijmegen Breakage Syndrome	Progressive vitiligo, Retinal pigment epithelial mottling, Cafe-au-lait spot, Conjunctival telang...	OMIM:251260
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Abnormality of retinal pigmentation	ORPHA:175
Melas	Pigmentary retinopathy, Vitiligo, Optic atrophy	ORPHA:550
Proteus Syndrome	Cataract, Central heterochromia, Irregular hyperpigmentation, Abnormality of retinal pigmentation...	ORPHA:744
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Pearson Syndrome	Cataract, Pigmentary retinopathy, Cafe-au-lait spot, Corneal stromal edema, Hyperpigmentation of ...	ORPHA:699
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Pigmentary retinopathy, Optic atrophy, Retinal degeneration	OMIM:234200
Atypical Werner Syndrome	Premature graying of hair, Patchy hypo- and hyperpigmentation, Abnormality of retinal pigmentatio...	ORPHA:79474
Lipodystrophy, Familial Partial, Type 7	Cataract, Pigmentary retinopathy, Developmental cataract, Orthostatic hypotension	OMIM:606721
Hardikar Syndrome	Lacrimal duct stenosis, Pigmentary retinopathy	OMIM:301068
Wiedemann-Rautenstrauch Syndrome	Cataract, Optic disc hypoplasia, Pigmentary retinopathy, Corneal opacity, Optic atrophy	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)	Abcb5^{em1(IMPC)Wtsi}	PMC7263671

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Abcb5^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Abcb5^{em1(IMPC)Wtsi}	Exon Deletion	Mice
Abcb5^{tm384702(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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