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Gene: Slc38a8 MGI:2685433

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Gene Summary

Name:
solute carrier family 38, member 8
Synonyms:
LOC234788

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Slc38a8em1(IMPC)Bay HOM Early adult 4.49×10-08

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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.

Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Human diseases caused by Slc38a8 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 Slc38a8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th... OMIM:609218

The table below shows human diseases predicted to be associated to Slc38a8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Color vision defect, Abnormality of vision, Vitelliform-like macular lesio... ORPHA:99000
Grouped Pigmentation Of The Retina
Metamorphopsia, Abnormality of retinal pigmentation OMIM:233800
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Persistent Placoid Maculopathy
Scintillating scotoma, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnorma... ORPHA:97341
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:612712
Oculocutaneous Albinism Type 6
Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Reduced visual acuity, Abn... ORPHA:370097
Macular Dystrophy, Retinal, 2
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... OMIM:608051
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of ha... OMIM:606574
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Bone spicule pigmentation of the retin... OMIM:613809
Cleft Lip-Retinopathy Syndrome
Retinopathy, Visual impairment, Abnormality of retinal pigmentation ORPHA:1995
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Choroideremia
Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Numm... OMIM:303100
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Retinal pigment epithelial mottling, Dyschromatopsia, Hypopigment... ORPHA:75377
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Reduced vi... OMIM:619165
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Progressive Cone Dystrophy
Photophobia, Color vision defect, Visual impairment, Abnormality of retinal pigmentation ORPHA:1871
Tietz Albinism-Deafness Syndrome
Hypopigmentation of the fundus, Heterochromia iridis, White eyebrow, White eyelashes, Generalized... OMIM:103500
Blue Cone Monochromatism
Visual impairment, Abnormality of retinal pigmentation, Photophobia, Blue cone monochromacy, Corn... ORPHA:16
X-Linked Retinal Dysplasia
Retinal dysplasia, Visual impairment, Abnormal retinal vascular morphology, Abnormality of retina... ORPHA:1852
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy, Nyctalopia, Visual impairment OMIM:613758
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment ORPHA:1872
Sorsby Pseudoinflammatory Fundus Dystrophy
Pigmentary retinopathy, Choroidal neovascularization, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Retinitis Pigmentosa 96
Retinal thinning, Constriction of peripheral visual field, Reduced visual acuity, Bone spicule pi... OMIM:620228
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Reduced visual acuity, Bone spicule pigmentation o... OMIM:607476
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Nyctalopia, Pho... OMIM:600852
Retinitis Pigmentosa 57
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:613582
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Visual field defect, Reduced visual... OMIM:614181
Retinitis Pigmentosa 68
Visual field defect, Reduced visual acuity, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:615725
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Astigmatism, Reduced visual ... OMIM:300814
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:614180
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Fundus atrophy, Bone spicule pigmentation of the retina, Ny... OMIM:613428
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Blindness, Attenuation of retinal blood vessels, Visual field d... OMIM:613731
Retinitis Pigmentosa 95
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:620102
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Retinitis Pigmentosa 76
Retinal thinning, Constriction of peripheral visual field, Hyperautofluorescent macular lesion, P... OMIM:617123
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Retinitis Pigmentosa 73
Color vision defect, Geographic atrophy, Constriction of peripheral visual field, Epiretinal memb... OMIM:616544
Retinitis Pigmentosa 92
Pigmentary retinopathy, Constriction of peripheral visual field, Paracentral scotoma, Nyctalopia,... OMIM:619614
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, High myopia, Retinal detachment, Iris transilluminati... OMIM:225200
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Constriction of peripheral visual field, Cone/cone-rod dystr... OMIM:610478
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Blin... OMIM:613750
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Visual impairment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Bothnia Retinal Dystrophy
Color vision defect, Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mot... ORPHA:85128
Retinitis Pigmentosa 7
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:608133
Retinitis Pigmentosa 69
Pigmentary retinopathy, Constriction of peripheral visual field, Perifoveal hypoautofluorescence,... OMIM:615780
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:606068
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Progressive visual loss, Bone spicule pigmentati... OMIM:617781
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Nanophthalmos
High hypermetropia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 9
Cataract, Macular edema, Constriction of peripheral visual field, Bone spicule pigmentation of th... OMIM:180104
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Peripheral visual field loss, Chorio... OMIM:618697
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Constriction of peripheral visual field, High myopia, Bull's ey... OMIM:312600
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:601718
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Tritanomaly, Patchy atrophy of the retinal pigment epit... ORPHA:67042
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... OMIM:203200
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Scotoma, Visual loss, Astigmatism, Nyctalopia, Hemianopia, High ... ORPHA:231183
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Visual acuity no light perception, Bone spicule p... OMIM:618220
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration, Reduced visual ... OMIM:617879
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Cone/cone-rod dystrophy, R... OMIM:615973
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Bornholm Eye Disease
Protanopia, High myopia, Abnormality of retinal pigmentation, Astigmatism, Amblyopia, Deuteranopi... OMIM:300843
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Hypermetropia, Paravenous chorioretin... OMIM:172870
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy, Hypermetropia OMIM:268060
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Reduced visual acui... OMIM:309300
Stargardt Disease
Color vision defect, Macular degeneration, Abnormality of macular pigmentation, Retinal pigment e... ORPHA:827
Albinism, Oculocutaneous, Type Vii
Albinism, Reduced visual acuity, Iris transillumination defect, Photophobia, High hypermetropia OMIM:615179
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Cone-Rod Dystrophy 3
Color vision defect, Pigmentary retinopathy, Peripheral visual field loss, Visual loss, Central s... OMIM:604116
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Visual impairment, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Reduced visual... OMIM:618826
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Visual impairment, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 6
Pigmentary retinopathy, Constriction of peripheral visual field, Chorioretinal degeneration, Rod-... OMIM:312612
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Congenital stationary night blindness with abnormal fundus... ORPHA:215
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Blindness, Attenuation of retinal blood vessels, R... OMIM:204100
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Reduced visual acuity, Optic disc drusen, Bone spi... OMIM:611040
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231169
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Constriction of peripheral visual field, ... OMIM:612572
Leber Congenital Amaurosis 9
Color vision defect, Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Ultra-low v... OMIM:608553
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:617304
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Constriction of peripheral visual field, Retinal degeneratio... OMIM:618144
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:618173
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Constriction of peripheral visual field, Central scotoma, Reduced... OMIM:615233
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Peripheral visual field loss, Reduced visual acuity, Bone s... OMIM:613756
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Griscelli Syndrome Type 1
Iris hypopigmentation, Diplopia, White hair, Premature graying of hair, Partial albinism, Retinop... ORPHA:79476
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Peripheral visual field loss, Attenuation... OMIM:613810
Fuchs Heterochromic Iridocyclitis
Cataract, Abnormal best corrected visual acuity test, Chorioretinal scar, Corneal keratic precipi... ORPHA:263479
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Blindness, Blurred vision, Astigmatism, Co... ORPHA:566
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cat... OMIM:611131
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Blindness, Visual loss, Retinopathy OMIM:610951
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Peripheral visual field loss, Attenuation of retina... OMIM:612095
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:600105
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:180105
Albinism, Ocular, Type I
Ocular albinism, Hypoplasia of the fovea, Reduced visual acuity, Depigmented fundus, Giant melano... OMIM:300500
X-Linked Corneal Dermoid
Visual loss, Abnormal pupil morphology, Visual impairment, Corneal opacity ORPHA:1661
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Constriction of peripheral visual field, Peripheral visual field ... OMIM:613983
Oculocutaneous Albinism Type 5
Ocular albinism, Abnormal fundus morphology, Hypoplasia of the fovea, Reduced visual acuity, Phot... ORPHA:370091
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Blindness, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment, Amblyopia ORPHA:35737
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Retinitis Pigmentosa 58
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Bone sp... OMIM:613617
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Hemiano... ORPHA:284454
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:602772
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Constriction of peripheral visual field, High myopia, Attenuation... OMIM:616469
Retinitis Pigmentosa 45
Macular degeneration, Peripheral visual field loss, Bone spicule pigmentation of the retina, Rod-... OMIM:613767
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Progressive Hemifacial Atrophy
Heterochromia iridis, Irregular hyperpigmentation ORPHA:1214
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of s... OMIM:251270
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Jalili Syndrome
Visual impairment, Retinal pigment epithelial mottling, Scotoma, Attenuation of retinal blood ves... OMIM:217080
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Constriction of peripheral visua... OMIM:600132
Neovascular Glaucoma
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Visual loss, Uveal ectr... ORPHA:94058
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Periphera... OMIM:605549
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Cone-Rod Dystrophy 10
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Progres... OMIM:610283
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Blindness, Attenuation of retinal blood vessels, R... OMIM:204000
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Retinitis Pigmentosa 75
Peripheral visual field loss, Attenuation of retinal blood vessels, Mixed astigmatism, Bone spicu... OMIM:617023
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Ocular Albinism With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment, Ocular albinism ORPHA:1000
Retinitis Pigmentosa 51
Macular degeneration, High myopia, Attenuation of retinal blood vessels, Reduced visual acuity, B... OMIM:613464
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Redu... OMIM:203100
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Cone-Rod Dystrophy 6
Dyschromatopsia, Peripheral visual field loss, Attenuation of retinal blood vessels, Chorioretina... OMIM:601777
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... ORPHA:79433
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior synechiae of the anterior chamber, Reduced visual acuity, Retinal detachment, Optic dis... ORPHA:364055
Jalili Syndrome
Color vision defect, Optic atrophy, Abnormality of retinal pigmentation, Photophobia, Visual impa... ORPHA:1873
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio... OMIM:617547
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ... ORPHA:1390
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Blindness, Visual loss, Abnormality of retinal pigmentation, Retinal detachment, Lens s... ORPHA:171844
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis, Nyctalopia, He... OMIM:268100
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Myopia, Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Nyctalopia, Myopia, Hemeralopia, Congenital stationary n... OMIM:257270
Vitreoretinochoroidopathy
Color vision defect, Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Dyschr... OMIM:193220
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Retinitis Pigmentosa 97
Macular degeneration, Iris atrophy, Reduced visual acuity, Amblyopia, Nyctalopia, Rod-cone dystrophy OMIM:620422
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Myopic astigmatism, Ocular albinism, Moderate hypermetropia, High myopia, Astig... OMIM:614077
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Hypoplasia of the fovea, Reduced visual ... OMIM:619172
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Retina... ORPHA:3156
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Reduced visual acuity, Retinal pigment epithelial mot... ORPHA:506353
Usher Syndrome Type 2
Iris hypopigmentation, Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, Myopia ORPHA:231178
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Peripheral vis... OMIM:145350
Diprosopus
Abnormality of vision, Abnormality of retinal pigmentation ORPHA:1681
Cataract 21, Multiple Types
Microcornea, Peters anomaly, Cortical pulverulent cataract, Cerulean cataract, High myopia, Macul... OMIM:610202
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Myopia, Abnormality of retinal pigmentation ORPHA:2743
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Sever... ORPHA:65
Aplasia Cutis-Myopia Syndrome
High myopia, Abnormality of retinal pigmentation ORPHA:1117
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Piebald Trait-Neurologic Defects Syndrome
Heterochromia iridis, Hypopigmentation of hair, Irregular hyperpigmentation, Hypopigmented skin p... ORPHA:2885
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Leber Congenital Amaurosis 15
Color vision defect, Pigmentary retinopathy, Posterior subcapsular cataract, Photophobia, Constri... OMIM:613843
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Myopia, Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy, Visual impairment, Nyctalopia OMIM:600151
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... ORPHA:3214
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Eem Syndrome
Abnormality of vision, Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Aniridia 2
Cataract, Optic atrophy, Aniridia, Amblyopia, Lens subluxation, Iris coloboma OMIM:617141
Riboflavin Transporter Deficiency
Iris hypopigmentation, Color vision defect, Abnormality of macular pigmentation, Optic disc pallo... ORPHA:97229
Chromosome Xp11.3 Deletion Syndrome
Cataract, Pigmentary retinopathy, Posterior subcapsular cataract, Optic atrophy, Moderate myopia,... OMIM:300578
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Reduced visual acuity, Retinal atrophy, Developmenta... OMIM:616722
Woolly Hair Nevus
Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane ORPHA:79414
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Visual impairment, Aplasia/Hypoplasia of the iris, Corneal opacity, Myopia, Hypopigment... ORPHA:1067
Retinitis Pigmentosa 74
Posterior polar cataract, Pigmentary retinopathy, Constriction of peripheral visual field, Reduce... OMIM:616562
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, High myopia... ORPHA:98977
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation, Cataract OMIM:261600
Hermansky-Pudlak Syndrome 5
Albinism, Ocular albinism, Hypoplasia of the fovea, Reduced visual acuity, Iris transillumination... OMIM:614074
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Narp Syndrome
Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Constriction of peripheral vi... ORPHA:644
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Sjögren-Larsson Syndrome
Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract, Optic atrophy, Peripheral visual field loss, Blindne... ORPHA:791
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Visual loss, Retinal detachment, Aplasia/Hypoplasia of the lens,... ORPHA:85194
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Progressive visual loss OMIM:164500
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Hypoplasia of ... OMIM:611584
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Visual loss, Multiple cafe-au-lait spots, Iritis, Uveitis ORPHA:158000
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Iris coloboma, Hypermetropia, Ectopia pupillae OMIM:612868
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Constriction of peripheral visual field, Rod-cone dystrophy, Vi... OMIM:614307
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Canavan Disease
Optic atrophy, Blindness, Visual impairment, Abnormality of retinal pigmentation ORPHA:141
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Abnormality of retinal pigmentation, Chorioretinal atrophy, Retinopathy, Myopia, Nyc... ORPHA:5
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Focal T2 hyperintense thalamic lesion, Blindness, Visual loss, Retinal de... ORPHA:79264
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Myopia, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Cofs Syndrome
Cataract, Visual impairment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Photophobia, Retinopathy, Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Hermansky-Pudlak Syndrome 4
Albinism, Hypoplasia of the fovea, Reduced visual acuity, Ocular albinism OMIM:614073
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Corneal Dystrophy, Posterior Polymorphous, 4
Reduced visual acuity, Ectopia pupillae OMIM:618031
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Waardenburg-Shah Syndrome
Abnormality of vision, Abnormal macular morphology, Premature graying of hair, White forelock, Ab... ORPHA:897
Sturge-Weber Syndrome
Optic atrophy, Abnormality of vision, Blindness, Abnormal choroid morphology, Heterochromia iridi... ORPHA:3205
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism OMIM:614171
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Focal T2 hyperintense thalamic lesion, Hemianopia ORPHA:254881
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Photo... ORPHA:2720
Hermansky-Pudlak Syndrome 7
Albinism, Reduced visual acuity, Visual impairment, Ocular albinism OMIM:614076
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Deafness-Hypogonadism Syndrome
Heterochromia iridis, Congenital stationary night blindness ORPHA:90646
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Very low visual acuity, Uveal ectropion, Blurred v... ORPHA:98973
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Posterior Column Ataxia With Retinitis Pigmentosa
Cataract, Pigmentary retinopathy, Optic atrophy, Blindness, Attenuation of retinal blood vessels,... OMIM:609033
Choroidal Atrophy-Alopecia Syndrome
Visual impairment, Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigme... ORPHA:1433
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Waardenburg Syndrome Type 1
Abnormality of vision, Hypopigmented skin patches, White hair, Premature graying of hair, White f... ORPHA:894
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Wyburn-Mason Syndrome
Iris hypopigmentation, Retinal vascular malformation, Visual loss ORPHA:53719
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation ORPHA:834
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Abnormal optic nerve morphology, O... ORPHA:79430
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Optic disc pallor, Visual impairment, Progressive visual loss ORPHA:1947
Adenohypophysitis
Secondary growth hormone deficiency, Diplopia, Increased circulating prolactin concentration, Pan... ORPHA:95512
Neuhauser Syndrome
Megalocornea, Hypoplasia of the iris, Iridodonesis, Retinal detachment, Iris transillumination de... OMIM:249310
Panhypophysitis
Secondary growth hormone deficiency, Diplopia, Increased circulating prolactin concentration, Pan... ORPHA:95513
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Brushfield spots, Iris coloboma ORPHA:1791
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Cataract, Microcornea, Generalized hypopigmentation OMIM:617306
Neonatal Adrenoleukodystrophy
Cataract, Visual impairment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Cerebral visual impairment OMIM:618234
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Peripheral visual field loss, Bone spicule pigmentation of the retina, R... OMIM:268315
Proteus-Like Syndrome
Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Heterochromia iridis, Retinal d... ORPHA:2969
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Reduced visual acuity, Corneal dystrophy OMIM:609141
Corpus Callosum Agenesis-Neuronopathy Syndrome
Myopia, Abnormality of retinal pigmentation ORPHA:1496
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Amoebic Keratitis
Corneal perforation, Cataract, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Decreased thalamic volume, Abnormality iris morphology, Blindness, Retinal detachm... ORPHA:370959
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Microphthalmia, Isolated, With Corectopia
Myopia, Ectopia pupillae OMIM:156900
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Abnormality of vision, Ocular albinism, Choroideremia, Corneal o... ORPHA:2719
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Buphthalmos, Iridodonesis, Hypermetropia, Myopia... OMIM:251750
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Corneal opacity, V... ORPHA:290
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Tonne-Kalscheuer Syndrome
Blue irides OMIM:300978
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Congenital Toxoplasmosis
Visual impairment, Abnormality of retinal pigmentation ORPHA:858
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin... ORPHA:381
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Myopia, Hypermetropia, Abnormal thalamus morphology, Hemianopia ORPHA:404440
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Visual impairment, Abnormality of retinal pigmentation ORPHA:3085
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Abnormality of retinal pigmentation, Hypermetropia, Retinal fold, Kerat... OMIM:108145
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Blindness, Opacification of the co... OMIM:310600
Zellweger Syndrome
Cataract, Optic atrophy, Visual impairment, Posterior embryotoxon, Corneal opacity, Brushfield sp... ORPHA:912
Ramon Syndrome
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation ORPHA:3019
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Usher Syndrome
Cataract, High hypermetropia, Blindness, Abnormality of retinal pigmentation, Astigmatism, Visual... ORPHA:886
Waardenburg Syndrome, Type 1
Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, White forelock, Hete... OMIM:193500
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Dyschromatopsia, Visual field defect, Visual impairment, Abnormal thalamic MRI sig... ORPHA:254930
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Partial albinism, Macular hypoplasia, Reduced visu... OMIM:614075
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Macular h... OMIM:214500
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Blue irides ORPHA:3041
Waardenburg Syndrome
Abnormality of vision, Hypopigmented skin patches, Premature graying of hair, White forelock, Het... ORPHA:3440
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic nerve dysplasia, Bru... OMIM:214110
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Optic atrophy, Hypopigmentation of the skin, Fair hair, Astig... ORPHA:72
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Myopia, Blue irides OMIM:105830
Cach Syndrome
T2 hypointense thalamus, Optic atrophy, Optic neuritis, Blindness ORPHA:135
Knobloch Syndrome 1
Band keratopathy, Vitreoretinopathy, Lens subluxation, Persistent pupillary membrane, High myopia... OMIM:267750
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal... ORPHA:209959
Refsum Disease
Cataract, Abnormality of vision, Abnormality of retinal pigmentation, Retinopathy, Progressive vi... ORPHA:773
Ataxia With Vitamin E Deficiency
Visual impairment, Abnormality of retinal pigmentation, Nyctalopia ORPHA:96
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Mucolipidosis Type Iv
Photophobia, Retinopathy, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Oculopharyngodistal Myopathy 3
Photophobia, Pigmentary retinopathy OMIM:619473
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Visual impairment, Optic atrophy, Abnormal thalamic MRI signal intensity ORPHA:485421
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Retinoblastoma
Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobl... ORPHA:790
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Congenital Muscular Dystrophy With Intellectual Disability
Myopia, Pigmentary retinopathy ORPHA:370968
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Visual impairment OMIM:252011
Congenital Primary Aphakia
Corneal perforation, Abnormality of vision, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia aff... ORPHA:83461
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Visual impairment, Abnormality of retinal pigmentation ORPHA:2518
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Blindness, Rod-cone dystrophy ORPHA:216866
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Optic atrophy, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnorma... ORPHA:2715
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Myopia, Corneal ... ORPHA:1764
Noonan Syndrome 13
Multiple lentigines, Cafe-au-lait spot, Blue irides OMIM:619087
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Combined Oxidative Phosphorylation Defect Type 23
Visual impairment, Abnormal thalamic MRI signal intensity ORPHA:444013
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Pigmentary retinopathy, Visual loss, Bone spicule pigmentation of the retina, Nyctalopi... ORPHA:88628
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal best corrected visual acuity test, Visual loss, Abnormal thalamus morphology, Optic nerv... ORPHA:300570
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Abnormal thalamic MRI signal intensity... ORPHA:48818
Progeria-Short Stature-Pigmented Nevi Syndrome
Hyperpigmented nevi, Progressive visual loss, Abnormal thalamus morphology ORPHA:2959
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Lowry-Wood Syndrome
Astigmatism, Visual impairment, Abnormality of retinal pigmentation ORPHA:1824
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Rhombencephalosynapsis
Fusion of the left and right thalami, Abnormality of vision, Septo-optic dysplasia ORPHA:59315
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Myopia, Pigmentary retinopathy OMIM:613156
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Abnormality of retinal pigmentation, Corneal opacity, Visual impairment ORPHA:585
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615994
Joubert Syndrome 3
Pigmentary retinopathy, Visual impairment, Retinal dystrophy OMIM:608629
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Cherry red spot of the macula ORPHA:309155
Histidinemia
Hyperactivity ORPHA:2157
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Retinal thinning, Abnormality of retinal pigmentation, Macular atrophy, Cone/co... ORPHA:85167
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th... OMIM:609218
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Blindness, Thalamic edema, Chorioretinal at... ORPHA:2177
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... ORPHA:2481
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract OMIM:268020
Mulibrey Nanism
Astigmatism, Pigmentary retinopathy, Iris coloboma, Corneal dystrophy OMIM:253250
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Noonan Syndrome 4
Blue irides OMIM:610733
Cohen Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Bull's eye maculopathy, Cho... OMIM:216550
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blindness, Mottled pigmentation of photoexposed areas OMIM:560000
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Cerebral visu... ORPHA:177907
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic disc pallor, Brushfi... OMIM:214100
Lowry-Wood Syndrome
Pigmentary retinopathy, Peripheral visual field loss, Nyctalopia OMIM:226960
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Hypermetropia, Fair hair OMIM:610443
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Pigmentary retinopathy, Hypothalamic gonadotropin-releasing ... ORPHA:2235
Duane Retraction Syndrome
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Chor... ORPHA:233
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Reduced visual acuity, Blindness ORPHA:3208
Cancer-Associated Retinopathy
Optic atrophy, Dyschromatopsia, Foveal hyporeflective spaces on macular OCT, Constriction of peri... ORPHA:71505
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Pigmentary retinopathy, Optic atrophy, Opacification of the corneal stroma, Optic nerve... OMIM:614866
Vici Syndrome
Cataract, Optic atrophy, Hypopigmentation of the skin, Abnormal macular morphology, Abnormality o... ORPHA:1493
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy OMIM:256000
Phace Syndrome
Retinal vascular malformation, Cataract, Heterochromia iridis, Amblyopia, Sclerocornea, Lens colo... ORPHA:42775
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Pigmentary retinopathy, Reduced visual acuity, Optic disc pallor, Visual impairment OMIM:617282
Micro Syndrome
Optic atrophy, Cataract, Microcornea, Retinal coloboma, Abnormality of retinal pigmentation, Cere... ORPHA:2510
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy, Homonymous hemianopia ORPHA:79095
Meningioma
Secondary growth hormone deficiency, Slow decrease in visual acuity, Hypothalamic hypothyroidism,... ORPHA:2495
Nail-Patella Syndrome
Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign, Antecubital pterygium ORPHA:2614
Tay-Sachs Disease
Optic atrophy, Cherry red spot of the macula, Blindness, Visual impairment, Abnormal thalamic MRI... ORPHA:845
Acute Disseminated Encephalomyelitis
Optic neuritis, Visual loss, Abnormal thalamic MRI signal intensity ORPHA:83597
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypermetropia, Retinal pigment epithelial mottling OMIM:617102
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... ORPHA:167
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Optic disc coloboma, Heterochromia iridis, Retinoschisis, Iris coloboma ORPHA:2995
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Abnormality of vision, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Amblyopia, Hypermetropia, Blue ir... OMIM:619539
Craniopharyngioma
Optic atrophy, Slow decrease in visual acuity, Increased circulating prolactin concentration, Hyp... ORPHA:54595
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Abnormality of vision, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Abnormality of vision, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Peripheral visual field loss, Blindness, Bull's eye maculo... ORPHA:157850
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Pigmentary retinopathy, Constriction of peripheral visual field, Vitiligo, Keratoconjun... OMIM:240300
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Melanocytic nevus, Blue irides OMIM:101800
Neurofibromatosis Type 1
Cataract, Inguinal freckling, Abnormality of vision, Hypopigmented skin patches, Chorioretinal co... ORPHA:636
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology ORPHA:79139
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Hypermetropia, O... OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental... OMIM:613154
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... OMIM:614963
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... OMIM:609136
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cataract, Abnormality of vision, Optic atrophy, Abnormal optic nerve morphology, Blindness, Visua... ORPHA:2526
Leigh Syndrome
Optic atrophy, Abnormal optic nerve morphology, Abnormal thalamic MRI signal intensity ORPHA:506
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Retinal pigment epithelial mottling OMIM:614105
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Visual field defect, Neurogenic bladder, Nyctalopia, Rod-c... ORPHA:96180
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Cataract, Optic atrophy, Ectopia lentis, Abnormality of retinal pigmentation, Amblyopia, Retinal ... ORPHA:394
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Prolidase Deficiency
Visual impairment, White forelock, Abnormality of retinal pigmentation ORPHA:742
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Optic disc hypoplasia OMIM:619306
Bardet-Biedl Syndrome 1
Cataract, Hyperautofluorescent macular lesion, Peripheral visual field loss, Attenuation of retin... OMIM:209900
Wolfram Syndrome 1
Cataract, Pigmentary retinopathy, Optic atrophy OMIM:222300
Hermansky-Pudlak Syndrome 2
Fair hair, Ocular albinism, Aberrant melanosome maturation, Reduced visual acuity, Generalized hy... OMIM:608233
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria, Diplopia, Abnormal thalamic MRI signal intensity ORPHA:79138
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Heterochromia iridis, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of ... ORPHA:163746
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Optic atrophy, Freckling OMIM:610651
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormality of skin ... ORPHA:193
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Thalamic hemorrhage ORPHA:464321
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, Pigmentary retinopathy OMIM:600462
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Hermansky-Pudlak Syndrome 10
Albinism, Ocular albinism OMIM:617050
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Abetalipoproteinemia
Color vision defect, Hypopigmentation of the fundus, Scotoma, Blindness, Abnormality of retinal p... ORPHA:14
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Cockayne Syndrome Type 1
Cataract, Pigmentary retinopathy, Optic atrophy, Visual impairment, Conjunctivitis, Photophobia, ... ORPHA:90321
Trisomy 8P
Heterochromia iridis, Hypermetropia, Astigmatism ORPHA:264450
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Blindness, Visual loss, Abnormality of retinal pigmentation, Abnormal... ORPHA:2556
Werner Syndrome
Cataract, White forelock, Abnormality of retinal pigmentation, Premature graying of hair ORPHA:902
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Photophobia, Fair hair, Blue irides, Generalized hypopigmentation OMIM:604292
Cockayne Syndrome
Lentiglobus, Cataract, Pigmentary retinopathy, Band keratopathy, Abnormal cornea morphology, Reti... ORPHA:191
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Pigmentary retinopathy, Peters anomaly, High myopia, Sclerocornea, Iris coloboma OMIM:309801
Vici Syndrome
Cataract, Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Macular ... OMIM:242840
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Coffin-Lowry Syndrome
Cataract, Optic atrophy, Abnormality of retinal pigmentation ORPHA:192
Alstrom Syndrome
Pigmentary retinopathy, Constriction of peripheral visual field, Blindness, Visual loss, Attenuat... OMIM:203800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Photophobia, Fair hair, Blue irides, Generalized hypopigmentation OMIM:129900
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Noonan Syndrome
Melanocytic nevus, Blue irides ORPHA:648
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy, Increased circulating prolactin concentration ORPHA:502423
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Mucopolysaccharidosis Type 3
Cataract, Pigmentary retinopathy, Optic atrophy, Constriction of peripheral visual field, Blindne... ORPHA:581
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Peripheral visual field loss, Abnormality of retinal pigmentation, Retinopathy, Ab... ORPHA:217085
Holoprosencephaly 7
Panhypopituitarism, Iris coloboma, Fusion of the left and right thalami OMIM:610828
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Mucopolysaccharidosis Type 2
Optic atrophy, Peripheral visual field loss, Abnormality of retinal pigmentation, Retinopathy, Re... ORPHA:580
Williams Syndrome
Cataract, High hypermetropia, Megalocornea, Retinal arteriolar tortuosity, Aplasia/Hypoplasia of ... ORPHA:904
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Peripheral visual field loss, Abnormality of retinal pigmentation, Retinopathy, Ab... ORPHA:217093
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Increased circulating prolactin concentration OMIM:617675
Down Syndrome
Brushfield spots OMIM:190685
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Pigmentary retinopathy OMIM:614230
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling OMIM:618733
Infantile Nephropathic Cystinosis
Photophobia, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... ORPHA:50
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Peters anomaly, Corneal scarring, Buphthalmos, Visual impairment OMIM:618460
Cartilage-Hair Hypoplasia
Myopia, Visual impairment, Abnormality of retinal pigmentation, High hypermetropia ORPHA:175
Trisomy 18
Cataract, Microcornea, Iris coloboma, Abnormality of retinal pigmentation ORPHA:3380
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,... ORPHA:79282
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia... OMIM:219800
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Congenital stationary night blindness, Abnormal pituitary gland... ORPHA:314621
Proteus Syndrome
Cataract, Retinal nonattachment, Irregular hyperpigmentation, Central heterochromia, Chorioretina... ORPHA:744
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cataract, Abnormality of retinal pigmentation, Dyschromatopsia ORPHA:466768
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly OMIM:266270
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Alagille Syndrome 1
Cataract, Pigmentary retinopathy, Microcornea, Band keratopathy, Axenfeld anomaly, Chorioretinal ... OMIM:118450
Cockayne Syndrome A
Cataract, Pigmentary retinopathy, Optic atrophy, Retinal pigment epithelial mottling, Retinal atr... OMIM:216400
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Reduced visual acuity, Visual impairment OMIM:277400
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Microcornea, Hypoplasia of the iris, Hypermetropia, Abnorm... OMIM:133540
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Melas
Visual loss, Optic atrophy, Pigmentary retinopathy, Vitiligo ORPHA:550
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Conjunctivitis, Optic atrophy, Abnormality of retinal pigmentation ORPHA:505248
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Visual impairment, Retinal degeneration ORPHA:2822
Norrie Disease
Optic atrophy, Hypoplasia of the iris, Abnormal pupil morphology, Blindness, Abnormal vitreous hu... ORPHA:649
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Amblyopia, Blue irides, Premature graying of hair OMIM:194050
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Corneal scarring, Corneal neovascularization, Cone/cone-ro... ORPHA:404454
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Retinal pigment epithelial mottling OMIM:607459
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion OMIM:618929
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:255210
1P36 Deletion Syndrome
Cataract, Abnormality of vision, Optic atrophy, High hypermetropia, Ocular albinism, Visual impai... ORPHA:1606
Spondylocarpotarsal Synostosis Syndrome
Cataract, Abnormality of retinal pigmentation OMIM:272460
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial ... OMIM:251260
Amoebiasis Due To Free-Living Amoebae
Diplopia, Blindness, Visual loss, Abnormal hypothalamus morphology, Photophobia ORPHA:68
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration OMIM:234200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Pearson Syndrome
Cataract, Pigmentary retinopathy, Corneal stromal edema, Hyperpigmentation of the skin, Cafe-au-l... ORPHA:699
Atypical Werner Syndrome
Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Retinal degenerat... ORPHA:79474
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Lipodystrophy, Familial Partial, Type 7
Cataract, Pigmentary retinopathy, Developmental cataract OMIM:606721
Wiedemann-Rautenstrauch Syndrome
Cataract, Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Hypermetropia, Corneal op... ORPHA:3455
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750

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 Slc38a8

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 Slc38a8.

No publications found that use IMPC mice or data for Slc38a8.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc38a8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc38a8em1(IMPC)Bay Exon Deletion Mice
Slc38a8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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