Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased large unstained cell number Cd46em1(IMPC)H HOM Early adult 5.94×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Stargardt Disease 3
Macular flecks, Macular dystrophy, Macular atrophy OMIM:600110
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Immunodeficiency 8
Lymphopenia OMIM:615401
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Choroideremia
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... OMIM:303100
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Abnormal macular morphology, H... ORPHA:97341
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:614322
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Optic atrophy, Macular atrophy OMIM:250450
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris coloboma OMIM:212550
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Cardiomyopathy OMIM:609016
Retinitis Pigmentosa 47
Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Retinal degeneration, Arrhythmia, Sick sinus syndrome OMIM:617173
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, Opt... OMIM:610951
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Retinal degeneration, Optic atrophy OMIM:616211
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... ORPHA:827
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:614180
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613801
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retin... OMIM:251270
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Coats Disease
Abnormal macular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnormal retinal... ORPHA:190
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Optic disc pa... OMIM:619389
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Macular d... OMIM:256730
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinitis Pigmentosa 7
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retin... OMIM:608133
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cystoid ... OMIM:611040
Retinitis Pigmentosa 17
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:600852
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... ORPHA:79435
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia, Iris coloboma OMIM:610202
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapillary choriore... OMIM:613750
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy OMIM:520000
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
Ceroid Lipofuscinosis, Neuronal, 5
Increased neuronal autofluorescent lipopigment, Cerebellar atrophy, Retinal degeneration OMIM:256731
Immunodeficiency 19
Lymphopenia OMIM:615617
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Rod-cone dystrophy, Increased neuronal autofluorescent lipopigment, Macular deg... OMIM:204200
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration, Dilated cardiomyopathy OMIM:615981
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Attenuation of retinal blood vesse... OMIM:145350
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Neovascular Glaucoma
Iris neovascularization, Retinal vein occlusion, Retinal vascular proliferation, Abnormality of t... ORPHA:94058
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Nephronophthisis 14
Retinal degeneration OMIM:614844
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Late-Onset Retinal Degeneration
Fundus atrophy, Peripapillary atrophy, Iris transillumination defect, Multifocal subretinal depos... ORPHA:67042
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Dilated cardiomyopathy ORPHA:2515
Nephronophthisis 15
Retinal degeneration OMIM:614845
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with abnormal fundus, ... ORPHA:215
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane OMIM:225200
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of r... OMIM:204100
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Oguchi Disease
Rod-cone dystrophy, Mizuo phenomenon, Macular degeneration, Congenital stationary night blindness ORPHA:75382
Bardet-Biedl Syndrome 21
Retinal thinning, Hypoplasia of the fovea, Retinal atrophy, Rod-cone dystrophy, Hyperautofluoresc... OMIM:617406
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema OMIM:617304
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Retinitis Pigmentosa 1
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:180100
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79434
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy OMIM:604393
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Retinal degeneration, Optic atrophy, Cerebral cortical atrophy OMIM:300438
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Retinal degeneration OMIM:616896
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Hypertension ORPHA:3156
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Third degree atrioventricular block ORPHA:480
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Retinal degeneration, Optic atrophy OMIM:214980
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Oculocutaneous Albinism Type 2
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Retinitis Pigmentosa 51
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of... OMIM:613464
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy OMIM:612572
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Mucolipidosis Iv
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:252650
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Chorioretinal coloboma, Macular coloboma ORPHA:2196
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Retinal arteriolar constrict... OMIM:605549
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Scheie Syndrome
Aortic valve stenosis, Retinal degeneration, Aortic regurgitation OMIM:607016
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy OMIM:180105
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor, Anisocoria OMIM:619649
Norrie Disease
Hypoplasia of the iris, Retinal detachment, Retinal dysplasia, Retinal fold, Optic atrophy OMIM:310600
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Cerebellar atrophy, Retinal atrophy, Rod-cone dystrophy, Increased neuronal aut... OMIM:610127
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Epistaxis, Retinal vasculitis, Retinal ... ORPHA:40923
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentar... OMIM:312600
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... ORPHA:816
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Leber Congenital Amaurosis 1
Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels OMIM:204000
Retinal Detachment
Retinal detachment OMIM:180050
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy OMIM:264470
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Degeneration of the latera... OMIM:604360
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Arrhythmia, Cardiomyopathy, Cone/cone-rod dystrophy, Optic atrophy OMIM:249270
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
Cofs Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Optic atrophy ORPHA:1466
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning OMIM:615960
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Ramon Syndrome
Telangiectasia of the skin, Abnormality of retinal pigmentation ORPHA:3019
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Retinal atrophy, Pigmentary retinopathy, Retinal pig... ORPHA:52427
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Tricuspid regurgitation, Pigmentary retinopathy OMIM:600151
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal degeneration, Attenuation of... OMIM:615986
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Narp Syndrome
Corticospinal tract atrophy, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, ... ORPHA:644
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Abnormality of macular pigmentation, Freckling, Macular degeneration ORPHA:1573
Retinitis Pigmentosa 58
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613617
Refsum Disease, Classic
Retinal degeneration, Arrhythmia, Congestive heart failure, Rod-cone dystrophy, Cardiomyopathy OMIM:266500
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Nephronophthisis 11
Retinal degeneration, Anisocoria OMIM:613550
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormal macular morphology, ... ORPHA:897
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicule ... OMIM:120970
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pa... ORPHA:79264
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Geographic atrophy, Abnormal auditory... OMIM:619260
Juvenile Paget Disease
Abnormality of retinal pigmentation, Melanocytic nevus, Hypertension, Optic atrophy ORPHA:2801
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy OMIM:616562
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Retinal detachment, Leukocoria, Hypertension OMIM:219250
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Macular atrophy, Cone/cone-rod dystrophy, Bone spicule ... OMIM:615994
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Abnormality of skin pigmentation, Cone/cone-rod dystrophy, Macular degeneration OMIM:610283
Birdshot Chorioretinopathy
Vitritis, Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology OMIM:605808
Retinitis Pigmentosa 14
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriola... OMIM:600132
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Cerebral cortical atrophy, Macular degeneration ORPHA:404451
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris ORPHA:290
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Retinal degeneration, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Uveal Melanoma
Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Abnormal fundus morphology, Ci... ORPHA:39044
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Hsd10 Disease, Infantile Type
Cerebral atrophy, Retinal degeneration, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Diffuse ... ORPHA:391428
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Vitreoretinopathy, Macular edema, Retinoschisis OMIM:268100
Pseudoxanthoma Elasticum
Optic disc drusen, Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Int... OMIM:264800
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Abnormal chorioret... ORPHA:5
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy OMIM:252011
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Pigmentary retinopathy, Brain atrophy OMIM:619059
Leigh Syndrome With Leukodystrophy
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy ORPHA:255241
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615233
Senior-Loken Syndrome 9
Rod-cone dystrophy, Retinal dystrophy, Macular degeneration OMIM:616629
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Aceruloplasminemia
Retinal degeneration OMIM:604290
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Facial palsy, Cerebral cortical atrophy ORPHA:370968
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Desmoid Tumor
Abnormality of retinal pigmentation, Gastrointestinal hemorrhage ORPHA:873
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy ORPHA:3085
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Mulibrey Nanism
Pigmentary retinopathy, Iris coloboma, Congestive heart failure OMIM:253250
Zika Virus Disease
Absent foveal reflex, Optic disc hypoplasia, Retinal pigment epithelial mottling, Abnormality of ... ORPHA:448237
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Pigmentary retinopathy, Facial palsy, Cerebral cortical at... OMIM:613156
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Rod-cone dyst... OMIM:609033
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi... ORPHA:2481
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Intermediate Uveitis
Macular scar, Optic neuritis, Vitreous haze, Cystoid macular edema, Posterior synechiae of the an... ORPHA:279914
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Epiretinal membrane, Phot... OMIM:616959
Werner Syndrome
Retinal degeneration OMIM:277700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Rod-cone dystrophy OMIM:268020
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Antiphospholipid Syndrome, Familial
Vitritis, Central retinal artery occlusion, Iritis, Retinal vasculitis, Retinal detachment OMIM:107320
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Hypoplasia of the retina, Microcoria OMIM:263100
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration, Aortic regurgitation OMIM:252600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Retinal atrophy, Ectopia pupillae, Macular... ORPHA:85167
Vici Syndrome
Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation of the skin, C... ORPHA:1493
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Optic atrophy ORPHA:2518
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Joubert Syndrome 6
Chorioretinal coloboma, Retinal degeneration OMIM:610688
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Retinal degeneration, Optic atrophy, Brain atrophy ORPHA:442835
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Papillorenal Syndrome
Morning glory anomaly, Retinal detachment, Chorioretinal atrophy, Macular degeneration, Optic dis... OMIM:120330
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Rod-cone dystrophy, Heart murmur, Cerebral cortical atrophy, Cafe-au-lait spot ORPHA:166035
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy ORPHA:216866
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium ORPHA:436245
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy, Cardiomyopathy, Heart block ORPHA:773
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic atrophy OMIM:300578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Retinal degeneration, Retinopathy OMIM:239000
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration, Congestive heart... ORPHA:48818
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Axonal degeneration, Pigmentary retinopathy, Rod-cone... ORPHA:88628
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Corpus callosum atrophy ORPHA:168491
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy ORPHA:168549
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration, Neurodegeneration ORPHA:79244
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches, Optic atrophy, Abnormal retinal ... ORPHA:2715
Wolfram Syndrome 1
Pigmentary retinopathy, Cerebral atrophy, Cardiomyopathy, Optic atrophy OMIM:222300
Multiple Sulfatase Deficiency
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration OMIM:272200
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Abnormal atrioventricular conduction, Hypertrophic cardiomyop... ORPHA:3208
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Retinal hemorrhage, Macular degeneration, Cerebral hemorrhage, Angin... OMIM:177850
Joubert Syndrome 8
Pigmentary retinopathy, Optic disc pallor OMIM:612291
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blotching pigmentation of the skin, Mottled pigmentation of photoexposed ... OMIM:560000
Retinoblastoma
Retinal calcification, Hyphema, Heterochromia iridis, Abnormality of retinal pigmentation, Vitreo... ORPHA:790
Peroxisome Biogenesis Disorder 5A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:614866
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:214110
Kearns-Sayre Syndrome
Pigmentary retinopathy, Third degree atrioventricular block, Cardiomyopathy, Arrhythmia OMIM:530000
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Rod-cone dystrophy, Cafe-au-lait spot, Retinal degeneration, Hypoautofluorescent retinal lesion OMIM:250410
Bardet-Biedl Syndrome 1
Retinal degeneration, Aganglionic megacolon, Rod-cone dystrophy, Hyperautofluorescent macular les... OMIM:209900
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Pigmentary retinopathy, Rod-cone dy... ORPHA:157850
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Cerebellar atrophy, Parietal cortical atrophy, Corpus callosum atrophy ORPHA:412057
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Hematochezia ORPHA:79095
Autosomal Recessive Spastic Paraplegia Type 11
Atrophy of the spinal cord, Orthostatic hypotension, Retinal degeneration, Cerebral cortical atro... ORPHA:2822
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Atrophy of the spinal cord, Cerebral atrophy, Retinal degeneration, Pulmo... ORPHA:79282
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic... OMIM:610651
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia OMIM:615113
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Retinal degeneration, Corpus callosum atrophy, Cerebral cortical atrophy OMIM:248500
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Macular atrophy OMIM:601777
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:609015
Micro Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Retinal coloboma, Optic atrophy ORPHA:2510
Bardet-Biedl Syndrome
Pigmentary retinopathy, Hypertension ORPHA:110
Senior-Loken Syndrome 8
Macular atrophy OMIM:616307
Cohen Syndrome
Bull's eye maculopathy, Chorioretinal dystrophy, Bone spicule pigmentation of the retina, Optic a... OMIM:216550
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Usher Syndrome
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Abnormal cardiovascular system ... ORPHA:886
Cohen Syndrome
Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal pigmentation, Chorioretin... ORPHA:193
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Cerebellar atrophy, Congestive heart failure, Abnormal fundus morphology, Macul... ORPHA:94147
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Classic Homocystinuria
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Pulmonary embolism, Retinal det... ORPHA:394
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized ... ORPHA:1969
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Congestive heart failure, Neurodegeneration, Papilledema OMIM:309900
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Congestive heart failure, Pigmentary retinopathy, Cardiomyopathy, Mitral regurgitatio... ORPHA:746
Gaucher Disease, Type I
Pulmonary arterial hypertension, Hyperpigmentation of the skin, Hypertension, Macular atrophy, Mi... OMIM:230800
Hurler Syndrome
Retinal degeneration, Aortic regurgitation, Cardiomyopathy, Neurodegeneration, Mitral regurgitation OMIM:607014
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy OMIM:220110
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy ORPHA:436271
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Histiocytoid cardiomyopathy, Iris coloboma, Arrhythmia OMIM:309801
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Cerebellar cortical atrophy, Abnormal cranial nerve morphology, Macular degeneration, Abnormal au... ORPHA:247234
Neurodegeneration With Brain Iron Accumulation 1
Retinal degeneration, Global brain atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin... OMIM:234200
Cancer-Associated Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Diffuse cerebel... ORPHA:71505
Kniest Dysplasia
Vitreoretinopathy, Rhegmatogenous retinal detachment, Retinal detachment, Lattice retinal degener... ORPHA:485
Cockayne Syndrome Type 3
Premature graying of hair, Retinal degeneration, Retinal hemorrhage, Retinal atrophy, Optic disc ... ORPHA:90324
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Chorioretinal lacunae, Decreased nerve conduction velocity, ... OMIM:618733
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Chédiak-Higashi Syndrome
Hypopigmentation of hair, Atrophy of the spinal cord, Cerebellar atrophy, Abnormality of retinal ... ORPHA:167
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pigmentary retinopathy, Hypertension, Cone/cone... OMIM:203800
Mucopolysaccharidosis Type 2
Retinopathy, Retinal degeneration, Arrhythmia, Abnormality of retinal pigmentation, Decreased ner... ORPHA:580
Trichothiodystrophy
Retinal degeneration, Numerous pigmented freckles, Cardiomyopathy, Macular degeneration, Cerebral... ORPHA:33364
Knobloch Syndrome
Abnormal vitreous humor morphology, Vitreoretinopathy, Retinal detachment, Macular degeneration ORPHA:1571
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Prolonged QT interval, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:71212
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Telangiectasia OMIM:612582
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy ORPHA:96180
Mucopolysaccharidosis Type 3
Central nervous system degeneration, Retinal degeneration, Reduced ejection fraction, Rod-cone dy... ORPHA:581
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Optic atrophy ORPHA:192
Ramon Syndrome
Pigmentary retinopathy, Optic disc pallor, Telangiectasia OMIM:266270
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy OMIM:240300
Cockayne Syndrome
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Retinal hemorrhage, Abnormality of re... ORPHA:191
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Pulmo... ORPHA:505248
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Pigmentary retinopathy, Optic disc pallor ORPHA:502423
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration, Pulmonary insufficiency OMIM:208500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Retinal dysplasia, Retinal detachment, Retinal atrophy, Optic atrophy OMIM:236670
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Aicardi Syndrome
Chorioretinal coloboma, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Re... ORPHA:50
Werner Syndrome
Premature graying of hair, Congestive heart failure, Abnormality of retinal pigmentation, White f... ORPHA:902
Trisomy 18
Abnormality of retinal pigmentation, Iris coloboma ORPHA:3380
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pigmentary retinopathy, Optic disc pallor, Cerebral cortical atrophy, Brushfield spots OMIM:214100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Retinal degeneration, Retinal dysplasia, Retinal atrophy, Optic atrophy OMIM:253280
Melas