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Gene: Sema4a MGI:107560

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
Synonyms:
Semab,  SemB

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sema4a 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 Sema4a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Retinitis Pigmentosa 35
Rod-cone dystrophy OMIM:610282
Familial Colorectal Cancer Type X
ORPHA:440437

The table below shows human diseases predicted to be associated to Sema4a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
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
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
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
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... OMIM:615615
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
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
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Nephronophthisis 15
Retinal degeneration OMIM:614845
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism OMIM:606952
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... OMIM:103500
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus ORPHA:1573
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
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
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... ORPHA:897
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Scheie Syndrome
Retinal degeneration OMIM:607016
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... ORPHA:277
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:604360
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... OMIM:240500
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... OMIM:619260
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
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
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy OMIM:610127
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Aceruloplasminemia
Retinal degeneration OMIM:604290
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Facial palsy ORPHA:370968
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cafe-au-lait spot, Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Retinal d... ORPHA:166035
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... OMIM:619774
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb... OMIM:308230
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... ORPHA:1493
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Facial palsy OMIM:613156
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:391428
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Cln3 Disease
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy ORPHA:228346
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
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 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Micro Syndrome
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... ORPHA:2510
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sen... ORPHA:88628
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Nephronophthisis 11
Retinal degeneration OMIM:613550
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic atrophy OMIM:610651
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Krabbe Disease
Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Optic atrophy OMIM:245200
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... ORPHA:540
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy OMIM:222300
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... OMIM:231550
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Werner Syndrome
Retinal degeneration OMIM:277700
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia OMIM:613154
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration ORPHA:2822
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Neu... OMIM:209920
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Thrombocytope... ORPHA:158061
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok... ORPHA:485421
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy, Vitiligo ORPHA:480898
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... ORPHA:423479
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... ORPHA:52368
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu... OMIM:613179
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... OMIM:618733
Roifman Syndrome
Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev... ORPHA:353298
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... ORPHA:35069
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial nerve morpho... ORPHA:247234
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
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret... ORPHA:79282
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin OMIM:234200
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Abnormal optic ne... ORPHA:79430
Gaucher Disease, Type I
Macular atrophy, Hyperpigmentation of the skin OMIM:230800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Enlarged flash visua... OMIM:253280
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... ORPHA:193
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... OMIM:618131
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock ORPHA:902
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Hurler Syndrome
Retinal degeneration OMIM:607014
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... ORPHA:83471
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309256
Retinitis Pigmentosa 35
Rod-cone dystrophy OMIM:610282
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology ORPHA:94147
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309263
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:192
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Trichothiodystrophy
Macular degeneration, Numerous pigmented freckles, Retinal degeneration ORPHA:33364
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
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy OMIM:203800
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Cockayne Syndrome A
Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina... OMIM:216400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Premature graying of h... ORPHA:90324
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy... ORPHA:90321
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ... ORPHA:178320
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:581
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Decre... ORPHA:191
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerve conduction velocit... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Fair hair, Optic at... ORPHA:79330
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... ORPHA:636
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Minimal change glomerulonephritis, Abnormal lymphocyte physiology, Thro... ORPHA:1830
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D... ORPHA:466768
Farber Disease
Macular degeneration, Cherry red spot of the macula ORPHA:333
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm... ORPHA:2556
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Optic disc pallor, Pigmentary retinopathy OMIM:214100
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
White-Sutton Syndrome
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy ORPHA:505248
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Nijmegen Breakage Syndrome
Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo OMIM:251260
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus ORPHA:14
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614866
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Hypopigmented skin patches ORPHA:3121
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... ORPHA:206443
Melas
Pigmentary retinopathy, Optic atrophy, Vitiligo ORPHA:550
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy ORPHA:97297
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Osteopetrosis With Renal Tubular Acidosis
Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology ORPHA:2785
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Abnormal... OMIM:133540
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... ORPHA:79474
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217093
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... ORPHA:91500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy ORPHA:404454
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... ORPHA:909
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... OMIM:219800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration, Fair hair, Attenuation of retinal bl... OMIM:266920
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Chronic mucocutaneous ... OMIM:242840
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... ORPHA:744
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Pearson Syndrome
Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin ORPHA:699
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Iridocyclitis, Bronchiectasis, Uvei... OMIM:181000
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function OMIM:176690
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia ORPHA:3455
22Q11.2 Deletion Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Arthritis, Hypoplasia of the... ORPHA:567
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Anemia,... OMIM:188400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... ORPHA:64
Familial Colorectal Cancer Type X
ORPHA:440437

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 Sema4a

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 Sema4a.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A semaphorin-plexin-Rasal1 signaling pathway inhibits gastrin expression and protects against peptic ulcers. Science translational medicine (July 2022) Sema4atm1a(EUCOMM)Wtsi Sema4atm1b(EUCOMM)Wtsi 35857828
A reverse signaling pathway downstream of Sema4A controls cell migration via Scrib. The Journal of Cell Biology (December 2016) Sema4atm1b(EUCOMM)Wtsi PMC5223600
Semaphorin-Plexin Signaling Controls Mitotic Spindle Orientation during Epithelial Morphogenesis and Repair. Developmental cell (April 2015) Sema4atm1a(EUCOMM)Wtsi Sema4atm1b(EUCOMM)Wtsi 25892012

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sema4atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sema4atm41837(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sema4atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sema4atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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