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Gene: Aipl1 MGI:2148800

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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:
aryl hydrocarbon receptor-interacting protein-like 1
Synonyms:
A930007I01Rik

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 Aipl1 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 Aipl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Abnormal electroretinogram ORPHA:65

The table below shows human diseases predicted to be associated to Aipl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Occult Macular Dystrophy
Abnormal multifocal electroretinogram, Macular dystrophy OMIM:613587
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
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Abnormal electroretinogram, Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Macular Dystrophy, Vitelliform, 4
Drusen, Macular dystrophy, Decreased Arden ratio of electrooculogram, Vitelliform-like macular le... OMIM:616151
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
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
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Abnormal electroretinogram, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Retinitis Pigmentosa 31
Rod-cone dystrophy, Abnormal electroretinogram, Retinal pigment epithelial atrophy, Attenuation o... OMIM:609923
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
Usher Syndrome, Type I
Rod-cone dystrophy, Abnormal electroretinogram, Undetectable electroretinogram OMIM:276900
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Abnormal electroretinogram, Attenuat... OMIM:613809
Sorsby Fundus Dystrophy
Macular dystrophy, Abnormal electroretinogram, Chorioretinal atrophy OMIM:136900
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
X-Linked Retinoschisis
Retinoschisis, Abnormal electroretinogram ORPHA:792
Bothnia Retinal Dystrophy
Macular degeneration, Abnormal electroretinogram, Retinal dystrophy OMIM:607475
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Tritanopia
Abnormal light-adapted electroretinogram OMIM:190900
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy, Abnormal electrooculogram OMIM:179840
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina, Decreased light- ... OMIM:610445
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Abnormal electroretinogram, Rod-cone dys... OMIM:613428
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Oligocone Trichromacy
Abnormal electroretinogram ORPHA:75378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:1871
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy ORPHA:1574
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Abnormal electroretinogram, Retinal flecks, Rod-cone dystr... OMIM:613194
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:16
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy OMIM:609304
Retinitis Pigmentosa 93
Rod-cone dystrophy, Retinal dots, Undetectable electroretinogram OMIM:619845
Retinitis Pigmentosa 7
Abnormal electroretinogram, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:608133
Retinitis Pigmentosa 40
Rod-cone dystrophy, Abnormal light- and dark-adapted electroretinogram, Bone spicule pigmentation... OMIM:613801
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Decreased light- and dark-adap... OMIM:613758
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... OMIM:204500
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Undetectable light- and dark-adapted... OMIM:614180
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
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, A... OMIM:601718
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Undetectable light- and dark-adapted electroretinogram, At... OMIM:608380
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... OMIM:256600
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Retinitis Pigmentosa 44
Rod-cone dystrophy, Decreased light- and dark-adapted electroretinogram amplitude, Attenuation of... OMIM:613769
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy, Undetectable electro... OMIM:615780
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Undetectable pattern electrore... OMIM:615860
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Optic Atrophy 1
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy OMIM:165500
Homocarnosinosis
Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal electroret... ORPHA:1933
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
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
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Abnormal electroretinogram, Optic atrophy ORPHA:2971
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen OMIM:608895
Choroideremia
Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:180
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Abnormal electroretinogram, Rod-co... OMIM:613767
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials, Cerebral ... ORPHA:1947
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Abnormal electroretinogram OMIM:613216
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... OMIM:245200
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Corpus callosum atrophy, Abnormal electroretinogram, Optic atrophy, Cerebral ... OMIM:616875
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Abnormal light- and dark-adapted electroretinogram, Bull's eye maculopathy OMIM:612657
Nephronophthisis 15
Retinal degeneration OMIM:614845
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Åland Islands Eye Disease
Hypoplasia of the fovea, Abnormal electroretinogram, Hypopigmentation of the fundus ORPHA:178333
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Ab... OMIM:193235
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Optic atrophy... OMIM:601152
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Abnorma... OMIM:125310
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Mepan Syndrome
Abnormality of visual evoked potentials, Cerebellar atrophy, Optic atrophy, Cerebral atrophy ORPHA:508093
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Decreased light- and dark-adapted electroretinogram amplitu... OMIM:613341
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Cln5 Disease
Cerebellar atrophy, Corpus callosum atrophy, Atrophy/Degeneration affecting the central nervous s... ORPHA:228360
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Peho Syndrome
Undetectable visual evoked potentials, Optic atrophy, Neuronal loss in central nervous system, Ce... OMIM:260565
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Undetectable elec... OMIM:600105
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Optic atrophy, Abnormality of visual evoked... ORPHA:52368
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Facial palsy ORPHA:2743
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Brain atrophy OMIM:614457
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm... ORPHA:485421
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Cerebellar atrophy, Optic atrophy, Atrophy/Degeneration ... ORPHA:98755
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Ocular albinism, Abnormal optic... ORPHA:79431
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked potentials... ORPHA:168491
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Abnormal auditory... OMIM:125250
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy ORPHA:702
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials... ORPHA:480898
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Abnormal electroretinogram, Pigmentar... OMIM:613810
Leber Congenital Amaurosis 5
Undetectable electroretinogram OMIM:604537
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Optic atrophy OMIM:601338
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of v... ORPHA:35069
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
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
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Leber Congenital Amaurosis 6
Undetectable electroretinogram, Attenuation of retinal blood vessels OMIM:613826
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Decreased light- and dark-adapted electroretinogram am... OMIM:612572
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... ORPHA:206443
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Abnormality of visual evoke... ORPHA:2510
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Joubert Syndrome 25
Abnormal electroretinogram OMIM:616781
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
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
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309256
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials OMIM:619051
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Abnormal electroretinogram ORPHA:65
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Abnormal electroretinogram, Rod-cone dystrophy, ... ORPHA:166035
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Scheie Syndrome
Retinal degeneration OMIM:607016
Leber Congenital Amaurosis 7
Undetectable electroretinogram OMIM:613829
Van Den Bosch Syndrome
Choroideremia, Abnormal electroretinogram ORPHA:3417
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:604360
White-Sutton Syndrome
Optic nerve hypoplasia, Abnormal electroretinogram, Cerebral atrophy, Abnormality of visual evoke... OMIM:616364
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... OMIM:619260
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis, Undetectable electroreti... OMIM:268100
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation ORPHA:816
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Abnormal electroretinogram ORPHA:1369
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy, Global brain atrophy OMIM:614225
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Orth... ORPHA:309271
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy OMIM:610127
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Usher Syndrome Type 1
Subcortical cerebral atrophy, Abnormal electroretinogram, Cerebral cortical atrophy ORPHA:231169
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Aceruloplasminemia
Retinal degeneration OMIM:604290
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Atrophy of the spinal cord, Abnormality of pattern visual evoked potenti... ORPHA:2822
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal electroretino... ORPHA:1390
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Abnormal electroretinogram, Optic atrophy ORPHA:1154
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal electroretino... ORPHA:791
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy ORPHA:1173
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Pontocerebellar atrophy, Facial palsy ORPHA:258
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:216400
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:391428
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Optic atrophy, Cerebral atrophy, Undetectable visual evoked pote... OMIM:259720
Usher Syndrome Type 3
Abnormal electroretinogram ORPHA:231183
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of visual ... OMIM:203700
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Abnormal electroretinogra... ORPHA:5
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral... OMIM:133540
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Mohr-Tranebjaerg Syndrome
Abnormal electroretinogram OMIM:304700
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinopathy ORPHA:578
Nephronophthisis 11
Retinal degeneration OMIM:613550
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Optic disc pallor, Cerebellar atrophy, Optic neuropathy OMIM:252010
Joubert Syndrome 3
Pigmentary retinopathy, Abnormal electroretinogram, Retinal dystrophy OMIM:608629
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinal fold OMIM:108145
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Usher Syndrome Type 2
Subcortical cerebral atrophy, Abnormal electroretinogram, Cerebral cortical atrophy ORPHA:231178
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Werner Syndrome
Retinal degeneration OMIM:277700
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Retinal degeneration, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia... OMIM:253280
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal electroretinogram OMIM:614195
Maternal Uniparental Disomy Of Chromosome 6
Rod-cone dystrophy, Abnormal electroretinogram ORPHA:96181
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Bardet-Biedl Syndrome
Pigmentary retinopathy, Abnormal electroretinogram ORPHA:110
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret... ORPHA:79282
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial nerve morpho... ORPHA:247234
Hurler Syndrome
Retinal degeneration OMIM:607014
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
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
Trichothiodystrophy
Macular degeneration, Retinal degeneration ORPHA:33364
Machado-Joseph Disease
Cerebellar atrophy, Abnormal autonomic nervous system physiology, Abnormal electrooculogram OMIM:109150
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Retinal degeneration, ... ORPHA:90324
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology ORPHA:94147
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:581
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Decre... ORPHA:191
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Usher Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Cerebral cortical atrophy ORPHA:886
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration OMIM:234200
Farber Disease
Macular degeneration, Cherry red spot of the macula ORPHA:333
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Osteopetrosis With Renal Tubular Acidosis
Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology ORPHA:2785
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy ORPHA:97297
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Pigmentary retinopathy, Abnormal electroretinogram, Cerebral cortical atrophy OMIM:214100
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Congenital Fibrosis Of Extraocular Muscles
Abnormal electroretinogram, Optic nerve hypoplasia ORPHA:45358
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Attenuation of retinal blood vessels OMIM:266920
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Abnormal electroretinogram, Chorioretinal coloboma ORPHA:636
Degcags Syndrome
Abnormal electroretinogram OMIM:619488
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... ORPHA:64

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 Aipl1

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 Aipl1.

No publications found that use IMPC mice or data for Aipl1.

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MGI Allele Allele Type Produced
Aipl1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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