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Gene: Cd46 MGI:1203290

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Gene Summary

Name:
CD46 antigen, complement regulatory protein
Synonyms:
Mcp,  CD46

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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 Cd46 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cd46 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension OMIM:612922

The table below shows human diseases predicted to be associated to Cd46 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nondisjunction
Decreased fertility OMIM:158250
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
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
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
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
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Spermatogenic Failure 17
Male infertility OMIM:617214
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu... OMIM:204500
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R... OMIM:610951
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Cardiomyopathy OMIM:609016
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane OMIM:620253
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Ceroid Lipofuscinosis, Neuronal, 3
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... OMIM:204200
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy OMIM:616722
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy OMIM:551500
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Abnormal retinal vascular morphology, Abnorma... ORPHA:190
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Ceroid Lipofuscinosis, Neuronal, 1
Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera... OMIM:256730
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... OMIM:619389
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy OMIM:520000
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re... OMIM:256731
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:619090
Nephronophthisis 14
Retinal degeneration OMIM:614844
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Dilated cardiomyopathy ORPHA:2515
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Third degree atrioventricular block ORPHA:480
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Retinal degeneration OMIM:616896
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration OMIM:300438
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Hypertension ORPHA:3156
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration OMIM:607016
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Po... OMIM:193235
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:252650
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... ORPHA:79432
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma OMIM:212550
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia, Iris coloboma OMIM:610202
Ectopia Lentis Et Pupillae
Retinal detachment, Iris transillumination defect, Ectopia pupillae, Persistent pupillary membrane OMIM:225200
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... OMIM:610127
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Cardiomyopathy, Arrhythmia, Retinal degeneration OMIM:249270
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Optic atrophy, Retinal degeneration OMIM:616211
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Cerebral cortical atrophy, Retinal degeneration, Degeneration of the latera... OMIM:604360
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:1466
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Narp Syndrome
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi... ORPHA:644
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke... OMIM:619260
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
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, Telangiectasia of the skin ORPHA:3019
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Congestive h... OMIM:618234
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus ORPHA:1573
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy OMIM:616171
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Optic disc coloboma, Iris coloboma, Chorioretinal coloboma OMIM:602499
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Tachycardia, Cerebral atrophy, Pigmentary retinopathy, Ret... ORPHA:79264
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... ORPHA:542306
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... ORPHA:897
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy ORPHA:404451
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Leukocoria, Telangiectasia OMIM:219250
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hypertension, Melanocytic nevus ORPHA:2801
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Uveal Melanoma
Retinal detachment, Iris melanoma, Abnormal fundus morphology, Vitreous hemorrhage, Ciliary body ... ORPHA:39044
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro... ORPHA:391428
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Hy... ORPHA:5
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation ORPHA:290
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... OMIM:264800
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
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
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Pulmonary arterial hypertension, Brain atrophy OMIM:619059
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Aceruloplasminemia
Retinal degeneration OMIM:604290
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy OMIM:252011
Intermediate Uveitis
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Vasculitis, Macular edema, P... ORPHA:279914
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy ORPHA:370968
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Optic atrophy, Brain atrophy, Retinal degeneration ORPHA:442835
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Mulibrey Nanism
Pigmentary retinopathy, Iris coloboma, Congestive heart failure OMIM:253250
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Cln3 Disease
Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wave inversi... ORPHA:228346
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Desmoid Tumor
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation ORPHA:873
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Optic atrophy, Retinal dyspl... OMIM:613154
Norrie Disease
Retinal detachment, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Retinal... OMIM:310600
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Pigmentary retinopathy, Cerebral cortical atrophy, Facial ... OMIM:613156
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Antiphospholipid Syndrome, Familial
Retinal detachment, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Iritis OMIM:107320
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Retinopathy, Retinal degeneration OMIM:252600
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:2518
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cardiomyopathy, Hypopigmentation of the skin,... ORPHA:1493
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration OMIM:619780
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration ORPHA:79244
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Heart murmur, Cafe-au-lait spot, Cerebral cortical atrophy, Retinal degeneration ORPHA:166035
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun... ORPHA:3208
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral atrophy, Corpus callosum atrophy, Retinal degeneration ORPHA:168491
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Refsum Disease
Heart block, Abnormality of retinal pigmentation, Retinopathy, Cardiomyopathy ORPHA:773
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Congestive heart failure, Retinal dege... ORPHA:48818
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se... ORPHA:88628
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
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
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration OMIM:272200
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... OMIM:177850
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy, Cerebral atrophy, Cardiomyopathy OMIM:222300
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle... ORPHA:157850
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy ORPHA:412057
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... ORPHA:790
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Kearns-Sayre Syndrome
Pigmentary retinopathy, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Werner Syndrome
Retinal degeneration OMIM:277700
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Pulmonary embolism, Atrophy of the spinal cord, Dilated cardiomyopathy, Optic a... ORPHA:79282
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrophy, Cerebral cortical ... ORPHA:2822
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Pigmentary retinopathy ORPHA:79095
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degeneration OMIM:248500
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:609015
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Cerebral cortical atrophy ORPHA:2510
Bardet-Biedl Syndrome
Pigmentary retinopathy, Hypertension ORPHA:110
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F... OMIM:610651
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Abnormality of skin ... ORPHA:193
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Congestive heart failure, Abnormal fundus morphology... ORPHA:94147
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Neurodegeneration, Retinal degeneration OMIM:607014
Gaucher Disease, Type I
Macular atrophy, Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, ... OMIM:230800
Usher Syndrome
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Abnormal cardiovascular system ... ORPHA:886
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Pulmonary e... ORPHA:394
Werner Syndrome
Abnormality of retinal pigmentation, Telangiectasia of the skin, Myocardial infarction, Congestiv... ORPHA:902
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... ORPHA:1969
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Papilledema, Abnormality of retinal pigmentation, Congestive heart failure OMIM:309900
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Pigmentary retinopathy, Mitral regurgitation, ... ORPHA:746
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... ORPHA:247234
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Global brain atrophy, Cerebral degenera... OMIM:234200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy ORPHA:436271
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Subdural hemorrhage, Retinal hemorrhage, P... ORPHA:90324
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Telangiectasia OMIM:612582
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... OMIM:618733
Trichothiodystrophy
Macular degeneration, Numerous pigmented freckles, Cardiomyopathy, Diffuse cerebellar atrophy, Ce... ORPHA:33364
Alstrom Syndrome
Cone/cone-rod dystrophy, Congestive heart failure, Dilated cardiomyopathy, Pigmentary retinopathy... OMIM:203800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy OMIM:220110
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Chédiak-Higashi Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Dec... ORPHA:167
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Pigmentary retinopathy, Histiocytoid cardiomyopathy, Arrhythmia, ... OMIM:309801
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Brushfield spots, Optic nerve ... OMIM:614866
Mucopolysaccharidosis Type 3
Optic atrophy, Atrioventricular block, Central nervous system degeneration, Pigmentary retinopath... ORPHA:581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia OMIM:236670
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Retinal degeneration OMIM:208500
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:192
Cockayne Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... ORPHA:191
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Telangiectasia OMIM:266270
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:214100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu... ORPHA:505248
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal degeneration OMIM:253280
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Trisomy 18
Abnormality of retinal pigmentation, Iris coloboma ORPHA:3380
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atr... ORPHA:550
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy... ORPHA:90321
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... ORPHA:91500
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... ORPHA:636
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... ORPHA:466768
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Chorioretinal dy... ORPHA:2556
Farber Disease
Macular degeneration, Cherry red spot of the macula, Brain atrophy ORPHA:333
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Retinal pigment epithelial mottling, Progressive vitiligo, Neurodege... OMIM:251260
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Hy... ORPHA:255210
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Alport Syndrome
Macular degeneration, Retinal flecks, Hypertension ORPHA:63
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral... OMIM:133540
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Congestive heart failure, Hypopigmentati... ORPHA:14
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy, Bradycardia ORPHA:97297
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Pulmonary... ORPHA:2785
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Telangiectasia of the skin, Congestive heart failure, Patchy... ORPHA:79474
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Hear... ORPHA:217085
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ... ORPHA:404454
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Mitral regurgitation, Atrophy/Degeneration involving the spi... OMIM:607459
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Hear... ORPHA:217093
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Cerebral cortical atrophy OMIM:277400
Cartilage-Hair Hypoplasia
Heart block, Abnormality of retinal pigmentation, Aganglionic megacolon, Cardiomyopathy ORPHA:175
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Tricuspid regurgitation OMIM:618460
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration, Hypertension, Fair hair, Attenuation... OMIM:266920
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Sudden... ORPHA:744
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Cere... OMIM:219800
Pearson Syndrome
Cardiac conduction abnormality, Pigmentary retinopathy, Cardiomyopathy, Cafe-au-lait spot, Hyperp... ORPHA:699
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Hardikar Syndrome
Hematemesis, Pigmentary retinopathy, Hypertension, Portal hypertension OMIM:301068
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension, Hypertension, Pulmonary arterial hypertension OMIM:606721
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Pulmonic stenosis ORPHA:3455
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... ORPHA:64
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension OMIM:612922

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 Cd46

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 Cd46.

No publications found that use IMPC mice or data for Cd46.

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MGI Allele Allele Type Produced
Cd46em1(IMPC)H Exon Deletion Mice
Cd46tm94931(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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