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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Abnormal electroretinogram OMIM:165510
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Macular Dystrophy, Vitelliform, 4
Macular dystrophy, Decreased Arden ratio of electrooculogram, Vitelliform-like macular lesions, D... OMIM:616151
Occult Macular Dystrophy
Abnormal multifocal electroretinogram OMIM:613587
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Abnormal electroretinogram, Subretinal fluid OMIM:153700
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Undetectable elec... OMIM:610599
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinitis Pigmentosa 31
Abnormal electroretinogram, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pig... OMIM:609923
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Usher Syndrome, Type I
Abnormal electroretinogram, Rod-cone dystrophy, Undetectable electroretinogram OMIM:276900
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Abnormal electroretinogram, Attenuation of retinal blood... OMIM:613809
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Sorsby Fundus Dystrophy
Macular dystrophy, Abnormal electroretinogram OMIM:136900
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
X-Linked Retinoschisis
Abnormal electroretinogram, Retinoschisis ORPHA:792
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Bothnia Retinal Dystrophy
Abnormal electroretinogram, Macular degeneration, Retinal dystrophy OMIM:607475
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Tritanopia
Abnormal light-adapted electroretinogram OMIM:190900
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy, Abnormal electrooculogram OMIM:179840
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness, Decreased light- ... OMIM:610445
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa 54
Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood vessels, Fundus atro... OMIM:613428
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Abnormal light-adapted electroretinogram, Retinal detachment, Cone dystrophy, Cone/cone-rod dystr... OMIM:304030
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy, Undetectable ele... OMIM:615780
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Oligocone Trichromacy
Abnormal electroretinogram ORPHA:75378
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Progressive Cone Dystrophy
Abnormal electroretinogram, Abnormality of retinal pigmentation ORPHA:1871
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Cerebral atrophy OMIM:609304
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:1574
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Abnormal electroret... OMIM:613194
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Blue Cone Monochromatism
Abnormal electroretinogram, Abnormality of retinal pigmentation ORPHA:16
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abnormal light- an... OMIM:613801
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa 93
Undetectable electroretinogram, Rod-cone dystrophy, Retinal dots OMIM:619845
Retinitis Pigmentosa 7
Rod-cone dystrophy, Chorioretinal atrophy, Abnormal electroretinogram, Attenuation of retinal blo... OMIM:608133
Retinitis Pigmentosa 47
Chorioretinal atrophy, Decreased light- and dark-adapted electroretinogram amplitude, Pigmentary ... OMIM:613758
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:2246
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration, Increased extraneuronal autofluorescent lipopigment, Unde... OMIM:204500
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... ORPHA:320401
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinoschisis Of Fovea
Macular dystrophy, Foveoschisis, Abnormal electroretinogram, Rod-cone dystrophy OMIM:268080
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Undetectable light- and dark-adapted electroretinogram, ... OMIM:614180
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Retinitis Pigmentosa 4
Abnormal electroretinogram, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Un... OMIM:613750
Retinitis Pigmentosa 19
Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood vessels, Retinal pig... OMIM:601718
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Temporal optic disc... ORPHA:1215
Retinitis Pigmentosa 26
Optic disc pallor, Undetectable light- and dark-adapted electroretinogram, Attenuation of retinal... OMIM:608380
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Homocarnosinosis
Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 44
Decreased light- and dark-adapted electroretinogram amplitude, Attenuation of retinal blood vesse... OMIM:613769
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Congenital Glaucoma
Retinal detachment ORPHA:98976
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials OMIM:165500
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Abnormal electroretinogram, Decreased nerve conduction v... ORPHA:1933
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:2971
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Decreased nerve conduction velocity, Macular degeneration, Drusen OMIM:608895
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Cerebral atrophy, Decreased nerve conduction velocity, A... OMIM:256600
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... ORPHA:352731
Choroideremia
Abnormal electroretinogram, Abnormality of retinal pigmentation ORPHA:180
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy OMIM:615147
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Abnormality of pattern visual evoked potentials, Cerebral atrophy, Undetectable electroretinogram... ORPHA:1947
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Macular degeneration OMIM:204200
Krabbe Disease
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Neurodegeneration, ... OMIM:245200
Night Blindness, Congenital Stationary, Type 1C
Abnormal electroretinogram, Congenital stationary night blindness OMIM:613216
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral atrophy, Brain atrophy, Abnormality of visual evoked potentials, Abnormal electroretinog... OMIM:616875
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Cone-Rod Dystrophy 12
Bull's eye maculopathy, Abnormal light- and dark-adapted electroretinogram, Cone/cone-rod dystrophy OMIM:612657
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Abnormal electroretinogram, Nonarteritic anterior ischem... OMIM:125310
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials, Brain atrophy OMIM:614457
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Abnormal electror... OMIM:193235
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
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
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Åland Islands Eye Disease
Abnormal electroretinogram, Hypoplasia of the fovea, Hypopigmentation of the fundus ORPHA:178333
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Nephronophthisis 15
Retinal degeneration OMIM:614845
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Retinal dystrophy, Undetectable electroretinogram, Optic disc pallor, Decreas... OMIM:613341
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Rod-cone... ORPHA:436245
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy OMIM:212550
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Cln5 Disease
Atrophy/Degeneration affecting the central nervous system, Cerebral cortical atrophy, Abnormality... ORPHA:228360
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Optic atrophy, Caud... ORPHA:52368
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormal electroretinogram, Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 12
Rod-cone dystrophy, Attenuation of retinal blood vessels, Undetectable electroretinogram, Optic d... OMIM:600105
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials, Neuronal loss in central nervous system, Ce... OMIM:260565
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, El... ORPHA:215
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Atrophy/Degeneration affecting the brainstem, Optic atro... ORPHA:98755
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Cerebral atrophy, Retinal degeneration, Abn... ORPHA:168491
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials, Cerebral cortical atrophy ORPHA:702
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Opti... ORPHA:485421
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Diffuse cerebellar atrophy, Cerebral atrophy, Abnormality of visual evoked potentials, Corpus cal... ORPHA:480898
Retinitis Pigmentosa 43
Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood vessels, Pigmentary ... OMIM:613810
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormality of visual evoked pot... OMIM:229300
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Undetectable visual evoked potentials OMIM:601338
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Abnormality of visual evoked potentials, Optic atro... ORPHA:35069
Leber Congenital Amaurosis 5
Undetectable electroretinogram OMIM:604537
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy OMIM:616171
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Undetectable electroretinogram OMIM:613826
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Undetectable ele... OMIM:602772
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Undetectable ... OMIM:613835
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Prolonged brainstem... ORPHA:206443
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... OMIM:270200
Micro Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Retinal coloboma, Abnormality of ... ORPHA:2510
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:612572
Joubert Syndrome 25
Abnormal electroretinogram OMIM:616781
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Optic disc pallor, Undetectable visual evoked potentials, Aplasia/Hypoplasia o... ORPHA:423479
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Undetectable electroretinogram, Optic disc p... OMIM:600132
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309263
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Infantile Krabbe Disease
Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of visual evoked ... ORPHA:206436
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials ORPHA:79323
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Late-Onset Retinal Degeneration
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atrophy, Fu... ORPHA:67042
Leber Congenital Amaurosis
Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials OMIM:619051
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Abnormality of pattern visual evoked potentials, Retinal degeneration,... ORPHA:166035
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Leber Congenital Amaurosis 7
Undetectable electroretinogram OMIM:613829
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral cortical neurodegeneration, Neuronal loss in central nervous system, Abnormality of visu... OMIM:203700
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:604360
Warburg Micro Syndrome 2
Optic atrophy, Undetectable visual evoked potentials, Global brain atrophy OMIM:614225
Scheie Syndrome
Retinal degeneration OMIM:607016
White-Sutton Syndrome
Cerebral atrophy, Rod-cone dystrophy, Optic nerve hypoplasia, Abnormality of visual evoked potent... OMIM:616364
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Undetectable electroretinogram, Retinos... OMIM:268100
Sjögren-Larsson Syndrome
Retinopathy, Abnormality of retinal pigmentation, Macular degeneration ORPHA:816
Van Den Bosch Syndrome
Abnormal electroretinogram, Choroideremia ORPHA:3417
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor... OMIM:619260
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... ORPHA:309271
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Abnormal electroretinogram ORPHA:1369
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... OMIM:616959
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials ORPHA:79330
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Retinal degeneration, Abnormality of pattern... ORPHA:2822
Usher Syndrome Type 1
Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal electroretinogram ORPHA:231169
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Aceruloplasminemia
Retinal degeneration OMIM:604290
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Leigh Syndrome With Nephrotic Syndrome
Undetectable visual evoked potentials ORPHA:255249
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal electroretinogram OMIM:614195
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram, Abnormal retinal ... ORPHA:791
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Abnormal electroretinogram ORPHA:1154
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormal retinal vascular morpho... ORPHA:1390
Cerebrotendinous Xanthomatosis
Optic neuropathy, Decreased nerve conduction velocity, Abnormal retinal vascular morphology, Hype... ORPHA:909
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:1173
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Cockayne Syndrome A
Decreased nerve conduction velocity, Cerebral atrophy, Retinal pigment epithelial mottling, Abnor... OMIM:216400
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Osteopetrosis, Autosomal Recessive 5
Cerebral atrophy, Optic atrophy, Optic disc pallor, Undetectable visual evoked potentials, Facial... OMIM:259720
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Rod-cone dystrophy ORPHA:391428
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Cockayne Syndrome B
Cerebral atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, P... OMIM:133540
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Retinopathy, Chorioretinal atrophy, Abnormal electroretinogr... ORPHA:5
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Usher Syndrome Type 3
Abnormal electroretinogram ORPHA:231183
Peroxisome Biogenesis Disorder 3B
Rod-cone dystrophy, Abnormal electroretinogram, Retinal dystrophy OMIM:266510
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration OMIM:239000
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy ORPHA:168549
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Mohr-Tranebjaerg Syndrome
Abnormal electroretinogram OMIM:304700
Pseudoxanthoma Elasticum
Retinal peau d'orange, Macular degeneration, Retinal hemorrhage, Optic disc drusen, Choroidal neo... OMIM:264800
Mucolipidosis Type Iv
Abnormal electroretinogram, Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Nephronophthisis 11
Retinal degeneration OMIM:613550
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic neuropathy, Optic disc pallor, Undetectable visual evoked potentials, Cerebellar atrophy OMIM:252010
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Joubert Syndrome 3
Abnormal electroretinogram, Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Arthrogryposis, Distal, Type 5
Abnormal electroretinogram, Abnormality of retinal pigmentation OMIM:108145
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... ORPHA:157850
Senior-Loken Syndrome 8
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:616307
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Bardet-Biedl Syndrome 1
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal dystrophy... OMIM:209900
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Retinal hemorrhage, Macular degeneration OMIM:177850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Retinal degeneration, Enlarged flash visual evoked potentials, Undetect... OMIM:253280
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Papillorenal Syndrome
Macular degeneration, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, Retinal det... OMIM:120330
Usher Syndrome Type 2
Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal electroretinogram ORPHA:231178
Werner Syndrome
Retinal degeneration OMIM:277700
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Maternal Uniparental Disomy Of Chromosome 6
Abnormal electroretinogram, Rod-cone dystrophy ORPHA:96181
Kniest Dysplasia
Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, Lattice retinal degeneration, ... ORPHA:485
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopathy, Optic atrophy,... ORPHA:79282
Bardet-Biedl Syndrome
Abnormal electroretinogram, Pigmentary retinopathy ORPHA:110
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Macular degenera... ORPHA:247234
Hurler Syndrome
Retinal degeneration OMIM:607014
Knobloch Syndrome
Vitreoretinopathy, Retinal detachment, Abnormal vitreous humor morphology, Macular degeneration ORPHA:1571
Cancer-Associated Retinopathy
Granular macular appearance, Retinal pigment epithelial atrophy, Optic atrophy, Optic disc pallor... ORPHA:71505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Retinal detachment, Optic atrophy, Retinal atrophy, Retinal dysplasia OMIM:236670
Cockayne Syndrome Type 3
Retinal degeneration, Retinal hemorrhage, Retinal dystrophy, Optic disc pallor, Retinal atrophy, ... ORPHA:90324
Trichothiodystrophy
Retinal degeneration, Macular degeneration ORPHA:33364
Machado-Joseph Disease
Cerebellar atrophy, Abnormal electrooculogram, Abnormal autonomic nervous system physiology OMIM:109150
Mucopolysaccharidosis Type 3
Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:581
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Macular degeneration, Cone/cone-rod dystrophy ORPHA:94147
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Decreased nerve conduction velocity, Abnormal foveal morphol... ORPHA:580
Cockayne Syndrome
Abnormality of retinal pigmentation, Decreased nerve conduction velocity, Retinal degeneration, R... ORPHA:191
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
Abnormal electroretinogram, Cerebral cortical atrophy, Abnormality of retinal pigmentation ORPHA:886
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Retinal degeneration, Pigmentary retinopathy OMIM:234200
Farber Disease
Cherry red spot of the macula, Macular degeneration ORPHA:333
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Abnormal retinal morphology, Retinal atrophy, Cranial nerve compression ORPHA:2785
Xq21 Microdeletion Syndrome
Choroideremia, Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Reti... ORPHA:1435
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy ORPHA:97297
Say-Barber-Miller Syndrome
Optic atrophy, Rod-cone dystrophy, Macular degeneration ORPHA:3132
Peroxisome Biogenesis Disorder 1A (Zellweger)
Abnormal electroretinogram, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:214100
Non-Specific Syndromic Intellectual Disability
Papilledema, Retinal atrophy ORPHA:528084
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Retinal dystrophy OMIM:266920
Neurofibromatosis Type 1
Abnormal electroretinogram, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:636
Degcags Syndrome
Abnormal electroretinogram OMIM:619488
Alström Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Retinal dystrophy, Optic disc pallor... 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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