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Gene: Ctnna1 MGI:88274

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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:
catenin (cadherin associated protein), alpha 1
Synonyms:
alpha(E)-catenin,  alpha E catenin,  2010010M04Rik,  Catna1

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 Ctnna1 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 Ctnna1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Macular Dystrophy, Patterned, 2
Pattern dystrophy of the retina, Foveal hyperpigmentation, Drusen OMIM:608970

The table below shows human diseases predicted to be associated to Ctnna1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Lichen Amyloidosis
Pruritus ORPHA:49804
Choroidal Dystrophy, Central Areolar, 1
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy OMIM:215500
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... ORPHA:97341
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Choroideremia
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... OMIM:303100
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Retinitis Pigmentosa 30
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:607921
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613582
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, Retinopathy, Optic atrophy, Cerebell... OMIM:610951
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy OMIM:551500
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... ORPHA:85128
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 62
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:614181
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor, Cerebellar vermis atrophy, Corpus callosu... OMIM:619389
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... OMIM:620102
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Retinitis Pigmentosa 4
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613731
Retinitis Pigmentosa 76
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... OMIM:617123
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy OMIM:615725
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Cerebral atrophy, Retinal detachment, Optic disc pallor, Abnormality of ... OMIM:251270
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinitis Pigmentosa 90
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:619007
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina OMIM:172870
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... OMIM:614500
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... OMIM:613750
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema OMIM:180104
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Retinitis Pigmentosa 28
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:606068
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... OMIM:618697
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Achromatopsia
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... ORPHA:49382
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Retinitis Pigmentosa 84
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:618220
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus OMIM:146750
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:601718
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Usher Syndrome, Type Iv
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... OMIM:618144
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Retinitis Pigmentosa 73
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... OMIM:616544
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Microphthalmia, Isolated 5
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... OMIM:611040
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Optic disc ... OMIM:618195
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... OMIM:617460
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... OMIM:204100
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:616108
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Macular coloboma, Choriocapillaris atrophy, Nummular pigmentation of the ... OMIM:613835
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:180100
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Morning Glory Disc Anomaly
Optic disc coloboma, Retinal detachment, Abnormality of retinal pigmentation ORPHA:35737
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 86
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:618613
Retinitis Pigmentosa 2
Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Chorioretinal... OMIM:312600
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:600105
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation ORPHA:2196
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... OMIM:612095
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ... OMIM:604116
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Abnormality of retinal pigmentation ORPHA:397951
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612572
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Leber Congenital Amaurosis 1
Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels OMIM:204000
Cofs Syndrome
Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation ORPHA:1466
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Optic Atrophy 5
Abnormality of pattern visual evoked potentials, Optic atrophy, Optic disc pallor OMIM:610708
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... ORPHA:79435
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... OMIM:145350
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Narp Syndrome
Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar to... ORPHA:644
Retinitis Pigmentosa 83
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... OMIM:618173
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Heterochromia iridis, Abnormality of retinal pigmentation ORPHA:1390
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Macular degeneration, Abnormality of retinal pigmentation, Retinal arter... OMIM:605549
Retinitis Pigmentosa 58
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613617
Jalili Syndrome
Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,... OMIM:217080
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:300029
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613810
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:613756
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Aganglionic megacolon, Abnormality of ret... ORPHA:897
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Retinitis Pigmentosa 25
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:602772
Heimler Syndrome 1
Retinal pigment epithelial mottling, Macular dystrophy OMIM:234580
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Depigmented fundus, Iris hypopigmentation, Generalized hypo... ORPHA:352731
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation ORPHA:791
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... ORPHA:79434
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation... OMIM:600132
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... OMIM:193220
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Macular Dystrophy, Patterned, 2
Pattern dystrophy of the retina, Foveal hyperpigmentation, Drusen OMIM:608970
Oculocutaneous Albinism Type 2
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I... ORPHA:79432
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:613983
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy, Cerebral cortical atrophy ORPHA:370968
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy... ORPHA:52427
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... OMIM:616469
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Abnormal auditory evoked potentia... OMIM:616648
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Macular hyperpigmentation, Bone spicule pigmentation of the retina, Reti... OMIM:120970
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617547
Retinitis Pigmentosa 66
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615233
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Retinopathy, Chorioretinal atrophy, Abnormality of retinal pig... ORPHA:5
Enhanced S-Cone Syndrome
Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema OMIM:268100
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Leigh Syndrome With Leukodystrophy
Pigmentary retinopathy, Optic atrophy ORPHA:255241
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Yellow/white lesions of the retina, Retinal flecks ORPHA:100996
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Bone spicule pigmentation of... OMIM:609033
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi... ORPHA:284454
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Abnormal retinal nerve fiber lay... ORPHA:1215
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Neurocutaneous Melanocytosis
Numerous congenital melanocytic nevi, Abnormality of retinal pigmentation, Chorioretinal coloboma... ORPHA:2481
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... OMIM:615986
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation ORPHA:2518
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Optic disc hypoplasia, Retinal pigment epithelia... ORPHA:448237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Pigmentary retinopathy, Cerebral cortical atrophy OMIM:613156
Arthrogryposis, Distal, Type 5
Retinal fold, Abnormality of retinal pigmentation OMIM:108145
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Cerebellar atr... ORPHA:79264
Cln3 Disease
Pigmentary retinopathy, Generalized cerebral atrophy/hypoplasia, Optic atrophy, Cerebellar atroph... ORPHA:228346
Micro Syndrome
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic atrophy, Cere... ORPHA:2510
Cone-Rod Dystrophy 6
Macular atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:601777
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy ORPHA:216866
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy OMIM:616562
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Vici Syndrome
Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation of the skin, O... ORPHA:1493
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:300578
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:257270
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin... ORPHA:79431
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation, Hypopig... ORPHA:2715
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ... ORPHA:436245
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Bardet-Biedl Syndrome 17
Macular atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Bone spicule pigmentation of the ... OMIM:615994
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Pigmentary retinopathy, Bone spicule pigmentation of ... ORPHA:88628
Bullous Lichen Planus
Pruritus ORPHA:33408
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, N... OMIM:256600
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:268315
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Joubert Syndrome 8
Pigmentary retinopathy, Optic disc pallor OMIM:612291
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... OMIM:245200
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Leber Congenital Amaurosis 15
Peripapillary atrophy, Dull foveal reflex, Pigmentary retinopathy, Optic disc pallor, Retinal deg... OMIM:613843
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation ORPHA:585
Wolfram Syndrome 1
Pigmentary retinopathy, Cerebral atrophy, Optic atrophy OMIM:222300
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Abnormality of visua... OMIM:601152
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Abnormality of pattern visual evoked potentials, Optic disc pallor, Cerebral ... ORPHA:1947
Mepan Syndrome
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Abnormality of visual evoked potentials ORPHA:508093
Xeroderma Pigmentosum, Complementation Group B
Freckling, Pigmentary retinopathy, Decreased nerve conduction velocity, Optic atrophy, Cerebellar... OMIM:610651
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Pigmentary retinopathy, Optic disc pallor, Optic atrophy OMIM:617282
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral atrophy, Corpus callosum atrophy, Abnormality of visual evoked potentials, Optic atrophy... OMIM:616875
Peho Syndrome
Neuronal loss in central nervous system, Optic atrophy, Cerebellar atrophy, Undetectable visual e... OMIM:260565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia OMIM:613154
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Cohen Syndrome
Chorioretinal dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye macul... OMIM:216550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Abnormality of retin... ORPHA:85167
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Abnormal amplitude of flash visual evoked potentials, Retinal degeneration, Cor... ORPHA:168491
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Optic disc pallor, Abnormality of visual evoked potentials, ... ORPHA:485421
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Absent brainstem auditory responses, Abnormality of somatosensory evoked po... ORPHA:52368
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Pelizaeus-Merzbacher Disease
Optic atrophy, Cerebral cortical atrophy, Abnormality of visual evoked potentials ORPHA:702
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Vitiligo, Cerebral atrophy, Corpus callosum atrophy, Abnormality of visual evoked potentials, Opt... ORPHA:480898
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Developmental And Epileptic Encephalopathy 3
Brain atrophy, Cerebral atrophy, Abnormality of visual evoked potentials OMIM:609304
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic disc pallor, Undetectable visual evoked potentials, ... ORPHA:423479
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling, Decreased amplitude of sensory action... OMIM:618733
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Mucopolysaccharidosis, Type Ii
Papilledema, Neurodegeneration, Abnormality of retinal pigmentation OMIM:309900
Usher Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation ORPHA:886
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Bull's eye maculopathy, Retinal degeneration, Pallidal degeneration, Opti... ORPHA:157850
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve conduction, Abnorma... ORPHA:35069
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Pigmentary retinopathy, Optic disc pallor ORPHA:502423
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Achalasia-Addisonianism-Alacrima Syndrome
Abnormal autonomic nervous system physiology, Hyperpigmentation of the skin, Orthostatic hypotens... OMIM:231550
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Coffin-Lowry Syndrome
Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation ORPHA:192
Werner Syndrome
White forelock, Premature graying of hair, Abnormality of retinal pigmentation ORPHA:902
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Pigmentary retinopathy, Perifoveal ring of hyperautofluorescence OMIM:240300
Cohen Syndrome
Chorioretinal dystrophy, Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal ... ORPHA:193
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ... ORPHA:320401
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cafe-au-lait spot, Retinal degeneration, Abnormality of pattern visual evoked potentials, Cerebra... ORPHA:166035
Classic Homocystinuria
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation ORPHA:394
Alstrom Syndrome
Pigmentary retinopathy, Cone/cone-rod dystrophy OMIM:203800
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal coloboma, Optic disc colob... ORPHA:50
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Macular degeneration, Retinal degeneration ORPHA:99
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chorioretinal dysplasia, Retinal detachment, Retinopathy, Abnormality of retinal pigmentation, Re... ORPHA:2526
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:309263
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials ORPHA:79323
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal motor nerve conduction velocity, Atrophy of the spinal cord, Abnormality of retinal pigm... ORPHA:466768
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Retinal calcification, Abnormality of retinal pigmentat... ORPHA:790
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Pigmentary retinopathy, Abnormality o... ORPHA:90321
Bardet-Biedl Syndrome 1
Hyperautofluorescent macular lesion, Aganglionic megacolon, Retinal degeneration, Bone spicule pi... OMIM:209900
Infantile Krabbe Disease
Hypopigmented skin patches, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Cherry... ORPHA:206436
Cockayne Syndrome A
Cerebral atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, D... OMIM:216400
Chédiak-Higashi Syndrome
Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... ORPHA:167
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Pigmentary retinopathy, Atrophy of the spinal cord, Retinal degeneration, Abnor... ORPHA:79282
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentation of the skin... OMIM:234200
Ramon Syndrome
Pigmentary retinopathy, Optic disc pallor OMIM:266270
Cln5 Disease
Cerebellar atrophy, Corpus callosum atrophy, Abnormality of visual evoked potentials, Atrophy/Deg... ORPHA:228360
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic disc pallor, Cerebral cortical atrophy OMIM:214100
Autosomal Recessive Spastic Paraplegia Type 11
Atrophy of the spinal cord, Retinal degeneration, Abnormality of pattern visual evoked potentials... ORPHA:2822
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Cerebral cortical atrophy OMIM:277400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Cerebellar vermis atrophy, Optic... OMIM:614866
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Brain atrophy, Abnormality of retinal pigmentation ORPHA:505248
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Brain atrophy, Abnormality of visual evoked potentials OMIM:614457
Mucopolysaccharidosis Type 2
Papilledema, Decreased nerve conduction velocity, Abnormality of retinal pigmentation, Retinal de... ORPHA:580
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Abetalipoproteinemia
Hypopigmentation of the fundus, Rod-cone dystrophy, Abnormality of retinal pigmentation ORPHA:14
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... OMIM:601455
Microphthalmia With Linear Skin Defects Syndrome
Chorioretinal dysplasia, Hypopigmented skin patches, Abnormality of retinal pigmentation, Vitriti... ORPHA:2556
Melas
Vitiligo, Pigmentary retinopathy, Optic atrophy, Brain atrophy, Cerebral cortical atrophy ORPHA:550
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Atrophy/Degeneration involving the spinal cord, Retinal pigment epithelial mottling OMIM:607459
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, ... ORPHA:79430
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Cockayne Syndrome B
Cerebral atrophy, Pigmentary retinopathy, Decreased nerve conduction velocity, Abnormal auditory ... OMIM:133540
Cockayne Syndrome
Retinal hemorrhage, Cerebral atrophy, Retinal atrophy, Pigmentary retinopathy, Optic disc pallor,... ORPHA:191
Nijmegen Breakage Syndrome
Progressive vitiligo, Retinal pigment epithelial mottling, Cafe-au-lait spot, Neurodegeneration OMIM:251260
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Abnormality of retinal pigmentation ORPHA:175
Mogs-Cdg
Optic atrophy, Abnormality of visual evoked potentials, Fair hair, Absent brainstem auditory resp... ORPHA:79330
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Cancer-Associated Retinopathy
Granular macular appearance, Retinal atrophy, Optic disc pallor, Vitritis, Retinal pigment epithe... ORPHA:71505
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Hypopigmented skin patches ORPHA:3121
Neurofibromatosis Type 1
Freckling, Hypopigmented skin patches, Abnormality of retinal pigmentation, Multiple cafe-au-lait... ORPHA:636
White-Sutton Syndrome
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atr... OMIM:616364
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebral atrophy, Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Optic atrop... ORPHA:404454
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Central nervous system degeneration, Retinal degeneration, Optic atrophy,... ORPHA:581
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinopathy, Optic ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinopathy, Optic ... ORPHA:217093
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Abnormality ... ORPHA:206443
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Abnormality... ORPHA:91500
Cystinosis, Nephropathic
Cerebral atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation o... OMIM:219800
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormal retinal vascular morphology, Optic neuropathy, Optic disc pallor, ... ORPHA:909
Proteus Syndrome
Irregular hyperpigmentation, Central heterochromia, Abnormality of retinal pigmentation, Multiple... ORPHA:744
Atypical Werner Syndrome
Premature graying of hair, Patchy hypo- and hyperpigmentation, Abnormality of retinal pigmentatio... ORPHA:79474
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Pearson Syndrome
Hyperpigmentation of the skin, Pigmentary retinopathy, Cafe-au-lait spot ORPHA:699
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Pontocerebellar atrophy, Abnormality of visual evoked potentials ORPHA:258
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Cerebral cortical neurodegeneration, Abnormality of visual evoked potentials, N... OMIM:203700
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia ORPHA:3455
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512

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 Ctnna1

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 Ctnna1.

No publications found that use IMPC mice or data for Ctnna1.

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