Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Tmem135 MGI:1920009

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

transmembrane protein 135

Synonyms:

2810439K08Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

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 Tmem135 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 Tmem135 (0 diseases)
Human diseases predicted to be associated with Tmem135 (400 diseases)

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

The table below shows human diseases predicted to be associated to Tmem135 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinitis Pigmentosa, Late-Adult Onset	Rod-cone dystrophy	OMIM:268025
Retinitis Pigmentosa, Y-Linked	Rod-cone dystrophy	OMIM:400004
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 55	Rod-cone dystrophy	OMIM:613575
Cone-Rod Dystrophy, X-Linked, 2	Cone/cone-rod dystrophy, Cone dystrophy	OMIM:300085
Retinitis Pigmentosa 67	Rod-cone dystrophy	OMIM:615565
Retinitis Pigmentosa 24	Cone dystrophy, Rod-cone dystrophy	OMIM:300155
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Choroidal Dystrophy, Central Areolar, 3	Drusen, Chorioretinal atrophy	OMIM:613144
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level	OMIM:609016
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Hsd10 Mitochondrial Disease	Cerebral cortical atrophy, Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration	OMIM:300438
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Optic atrophy, Abnormal mitochondrial morphology, Cerebral...	ORPHA:99013
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Coloboma Of Macula	Macular coloboma	OMIM:120300
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R...	OMIM:610951
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli...	OMIM:619389
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v...	ORPHA:485421
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy	OMIM:551500
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration, Cryptorchidism	OMIM:275400
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi...	ORPHA:644
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:619090
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma...	ORPHA:275872
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number	ORPHA:352470
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration, Cryptorchidism	ORPHA:3363
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Friedreich Ataxia	Optic atrophy, Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced, Abnor...	OMIM:229300
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Mitochondrial Complex I Deficiency, Nuclear Type 11	Decreased activity of mitochondrial complex I, Pigmentary retinopathy	OMIM:618234
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Optic atrophy, Abnormality of the mitochondrion	ORPHA:330050
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Decreased activity of mitochondrial complex II, Pigmentary retinopathy, Optic atrophy, Abnormal m...	OMIM:252011
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:1466
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Mepan Syndrome	Cerebellar atrophy, Decreased activity of mitochondrial complex IV, Optic atrophy, Cerebral atrop...	ORPHA:508093
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal testis morpho...	ORPHA:791
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Optic atrophy	ORPHA:543470
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy, Cryptorchidism	ORPHA:370968
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m...	OMIM:500013
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Decreased testicular size, Cryptorchidism	ORPHA:3085
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number	OMIM:615578
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Fumarase Deficiency	Decreased fumarate hydratase activity, Mitochondrial swelling, Optic atrophy, Cerebral atrophy	OMIM:606812
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Facial palsy	OMIM:602541
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Decreased mitochondrial number	ORPHA:352447
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy, Cryptorchidism	OMIM:613156
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Barth Syndrome	Fair hair, Abnormal mitochondrial morphology	OMIM:302060
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Micro Syndrome	Abnormality of retinal pigmentation, Cryptorchidism, Optic atrophy, Retinal coloboma, Abnormality...	ORPHA:2510
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Mitochondrial swelling	ORPHA:397744
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Decreased activity of mitochondrial complex I, Pigmentary retinopathy, Decreased activity of mito...	OMIM:600462
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Abnormal mitochondrial shape, Cerebral atrophy	ORPHA:412217
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera...	ORPHA:79264
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Cln3 Disease	Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce...	ORPHA:228346
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal...	OMIM:300578
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy	OMIM:268020
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:2518
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic...	ORPHA:1493
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy	OMIM:619518
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Abnormality of t...	OMIM:214110
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Mitochondrial swelling	OMIM:618250
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling	OMIM:615595
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se...	ORPHA:88628
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy, Cerebral atrophy, Testicular atrophy	OMIM:222300
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number	ORPHA:263297
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Cerebral atrophy, D...	ORPHA:17
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Decreased circulating ca...	ORPHA:71212
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Bardet-Biedl Syndrome	Pigmentary retinopathy, Cryptorchidism	ORPHA:110
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F...	OMIM:610651
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality...	OMIM:231550
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Werner Syndrome	Abnormality of retinal pigmentation, Premature graying of hair, White forelock, Aplasia/Hypoplasi...	ORPHA:902
Mitochondrial Dna-Associated Leigh Syndrome	Abnormality of Krebs cycle metabolism, Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cerebral cortical atrophy, Decreased methylmalonyl-CoA mutase activity	OMIM:277400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Abno...	ORPHA:193
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle...	ORPHA:157850
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ...	OMIM:618733
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:192
Usher Syndrome	Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:886
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Cryptorchidism, Optic atrophy, Pigmen...	ORPHA:90321
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct...	OMIM:216400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor...	OMIM:209900
Melas	Optic atrophy, Pigmentary retinopathy, Brain atrophy, Abnormal mitochondria in muscle tissue, Cer...	ORPHA:550
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo	OMIM:240300
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cryptorchidism	OMIM:614230
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormality of chromosome stability, Aganglionic megacolon	ORPHA:175
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism	ORPHA:31
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy	OMIM:203800
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Brushfield spots, Cryptorchidism, Pigmentary retinopathy, Cerebral cortical at...	OMIM:214100
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Pigme...	OMIM:614866
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C...	ORPHA:466768
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerv...	ORPHA:167
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop...	ORPHA:79282
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm...	ORPHA:2556
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Cryptorchidism, Optic a...	OMIM:133540
Cockayne Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti...	ORPHA:191
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy	OMIM:277410
Trisomy 18	Abnormality of retinal pigmentation, Cryptorchidism	ORPHA:3380
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral...	OMIM:234200
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Optic atrophy, Brain atrophy	ORPHA:505248
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con...	ORPHA:580
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Cryptorchidism, Hypopigmented...	ORPHA:636
Friedreich Ataxia 2	Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity, Abnormality of perip...	OMIM:601992
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord	OMIM:607459
Mucopolysaccharidosis Type 3	Optic atrophy, Central nervous system degeneration, Pigmentary retinopathy, Rod-cone dystrophy, R...	ORPHA:581
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ...	ORPHA:404454
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Cafe-au-lait spot, Neurodegeneration, Progressive vitiligo	OMIM:251260
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251110
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Testic...	ORPHA:744
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Cystinosis, Nephropathic	Hypopigmentation of hair, Retinal pigment epithelial mottling, Cerebral atrophy, Pigmentary retin...	OMIM:219800
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai...	ORPHA:79474
Pearson Syndrome	Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin	ORPHA:699
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension	OMIM:606721
Wiedemann-Rautenstrauch Syndrome	Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Cryptorchidism	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 Tmem135

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 Tmem135.

No publications found that use IMPC mice or data for Tmem135.

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
Tmem135^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tmem135^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tmem135^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tmem135^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us