Gene Summary

phosphoribosyl pyrophosphate amidotransferase

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
impaired pupillary reflex Ppatem1(IMPC)Tcp HET Early adult 5.96×10-05
mydriasis Ppatem1(IMPC)Tcp HET Early adult 1.47×10-05
abnormal iris morphology Ppatem1(IMPC)Tcp HET Early adult 9.21×10-05
abnormal iris pigmentation Ppatem1(IMPC)Tcp HET Early adult 1.47×10-05
abnormal optic disk morphology Ppatem1(IMPC)Tcp HET Early adult 3.07×10-05
abnormal retinal blood vessel morphology Ppatem1(IMPC)Tcp HET   Early adult 3.73×10-05
fused cornea and lens Ppatem1(IMPC)Tcp HET Early adult 1.47×10-05
abnormal sternum morphology Ppatem1(IMPC)Tcp HET Early adult 0.00
abnormal lens morphology Ppatem1(IMPC)Tcp HET Early adult 1.62×10-06
irregularly shaped pupil Ppatem1(IMPC)Tcp HET Early adult 4.57×10-05
cataract Ppatem1(IMPC)Tcp HET   Early adult 4.70×10-06
persistence of hyaloid vascular system Ppatem1(IMPC)Tcp HET   Early adult 5.37×10-05
embryonic lethality prior to organogenesis Ppatem1(IMPC)Tcp HOM   E9.5 0.00
corneal vascularization Ppatem1(IMPC)Tcp HET   Early adult 3.81×10-05
abnormal cornea morphology Ppatem1(IMPC)Tcp HET Early adult 1.46×10-05
abnormal placement of pupils Ppatem1(IMPC)Tcp HET Early adult 3.71×10-05
abnormal retinal vasculature morphology Ppatem1(IMPC)Tcp HET   Early adult 9.70×10-05
iris synechia Ppatem1(IMPC)Tcp HET Early adult 1.47×10-05
preweaning lethality, complete penetrance Ppatem1(IMPC)Tcp HOM   Early adult 0.00

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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

Images Slit Lamp

108 Images

Eye Morphology

Images Ophthalmoscopy

97 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


8 Images

Human diseases caused by Ppat 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
Matching phenotypes Source
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Chorioretinal coloboma, Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract, Generalized hyperpigmentation ORPHA:2253
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Facial Paresis, Hereditary Congenital, 1
Facial palsy, Decreased corneal reflex OMIM:601471
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation... OMIM:126070
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Uveal Melanoma
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... ORPHA:39044
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of the fundus, Albinism, Macular hypoplasia, Hypopigmentation of hair OMIM:606574
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy OMIM:300719
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, Hypopigmentation of the fundus, White eyelashes, White... OMIM:103500
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Metaphyseal irregularity, Cupped ribs, Brachydactyly, Coloboma, Short phalanx o... ORPHA:85167
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of the skin, Chorioretin... OMIM:619165
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Aniridia 1
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... OMIM:106210
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea OMIM:249300
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Coloboma, Microcornea, Ectopia pupillae OMIM:615877
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy OMIM:616722
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, 3-4 toe syndactyly, Sandal gap, Brachydactyly, Cataract, Broad hallux, Astigmatism... OMIM:618727
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Bardet-Biedl Syndrome 18
Retinal dystrophy, Brachydactyly, Cataract, Rod-cone dystrophy OMIM:615995
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Miosis, Iris coloboma, Retinal detach... OMIM:212550
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Horner Syndrome, Congenital
Heterochromia iridis, Congenital Horner syndrome OMIM:143000
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
Microcephaly-Albinism-Digital Anomalies Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Short distal phalanx of finger, Iris hypo... ORPHA:2513
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Hypopig... ORPHA:1067
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Woolly Hair
Abnormal pupil morphology, Hypopigmentation of hair, Cataract, Abnormal retinal morphology ORPHA:170
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Urocanase Deficiency
Blue irides, Fair hair, Tremor OMIM:276880
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Miosis, Macular edema, Increased cup-to-disc ra... ORPHA:280914
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmenta... ORPHA:54
Anterior Segment Dysgenesis 5
Developmental cataract, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasia of the iris, S... OMIM:604229
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... OMIM:221900
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon OMIM:602482
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Intermediate Uveitis
Vitreous floaters, Macular edema, Optic neuritis, Anterior uveitis, Vitreous snowballs, Vasculiti... ORPHA:279914
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Duplication involving bones of the feet, Progressi... OMIM:246000
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... OMIM:614500
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Oliver-Mcfarlane Syndrome
Central heterochromia, Peripheral axonal neuropathy, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Abnormal pupil morphology, Peripheral axonal neuropathy, Decreased ner... ORPHA:101082
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, White eyelashes, Heterochromia ir... OMIM:613265
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Generalized hypopigmentation, Iris transillumination defect... ORPHA:352731
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Griscelli Syndrome Type 1
Partial albinism, White hair, Iris hypopigmentation, Retinopathy, Premature graying of hair ORPHA:79476
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Microphthalmia, Isolated, With Cataract 1
Miosis, Cataract OMIM:156850
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... OMIM:601706
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Albinism, Hypopigmentation ... OMIM:203200
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Motor axonal neuropathy ORPHA:247815
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair, Tremor ORPHA:66633
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Idiopathic Panuveitis
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Miosis, Vitreous snowbal... ORPHA:280921
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea OMIM:616171
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea OMIM:615147
Corneal opacity, Cherry red spot of the macula ORPHA:351
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Progressive Hemifacial Atrophy
Heterochromia iridis, Irregular hyperpigmentation ORPHA:1214
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Hec Syndrome
Developmental cataract, Cardiomyopathy, Abnormal retinal vascular morphology, Abnormal pupil morp... ORPHA:2119
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ... ORPHA:1390
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Abnormality of epiphysis morphology, Short foot, C... ORPHA:96125
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension, Short lower limbs, Bowing of the legs, Retinal detachment, Leukocoria OMIM:219250
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Iris hypopigmentation, Cataract ORPHA:67048
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Cystoid macular edema, Posterior synechiae of the anterior cham... ORPHA:209959
Riboflavin Transporter Deficiency
Hypertension, Optic disc pallor, Abnormal cranial nerve morphology, Facial palsy, Tremor, Abnorma... ORPHA:97229
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Ermine Phenotype
Hypopigmented skin patches, Toe syndactyly, Ocular albinism, Irregular hyperpigmentation, Iris hy... ORPHA:999
Intestinal Botulism
Mydriasis ORPHA:178481
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract OMIM:263100
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split hand, Cataract, Retinopathy, Split foot OMIM:183800
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension ORPHA:254509
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Abnormality of ulnar metaphysis, Hypopigmentation of the skin, Short foot, Iris hypop... ORPHA:177910
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, White eyelashes, Heterochromia ir... OMIM:277580
Cataract OMIM:190330
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... OMIM:612109
Morm Syndrome
Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... OMIM:310600
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... OMIM:604393
2Q24 Microdeletion Syndrome
Toe syndactyly, Abnormality iris morphology, Long fingers, Bullet-shaped distal phalanx of the ha... ORPHA:1617
Wound Botulism
Mydriasis, Cardiac arrest ORPHA:178475
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb, Chorioretinal coloboma, Cataract ORPHA:2489
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... ORPHA:91495
Galactosemia Iv
Cataract OMIM:618881
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Retinal arteriolar tortuosity, Developmental cataract, Polycoria, Hypoplasia... OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Dysequilibrium Syndrome
Cataract ORPHA:1766
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Retinal detachment, Cataract, Delayed ossification of ... OMIM:127200
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614882
Blue irides, Generalized hypopigmentation, Cataract, Fair hair OMIM:261600
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Isolated Aniridia
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia ORPHA:250923
Inhalational Botulism
Mydriasis ORPHA:254504
Mydriasis, Arrhythmia ORPHA:1267
Galactosemia Ii
Cataract OMIM:230200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Brachydactyly, Ectopia lentis OMIM:613195
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Palmoplantar Carcinoma, Multiple Self-Healing
Finger joint hypermobility, Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Rod-cone dystrophy, Macular degeneration, ... OMIM:204200
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cardiomyopathy, Cataract OMIM:225740
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Neovascular Glaucoma
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... ORPHA:94058
Foodborne Botulism
Mydriasis, Arrhythmia ORPHA:228371
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract ORPHA:65
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Aganglionic megacolon, Heterochromia iridis, White forelock, Hypopigm... ORPHA:895
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Retinal Dystrophy And Obesity
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... OMIM:616188
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Aganglionic megacolon, Heterochromia iridis, Irregular hyperpigmentat... ORPHA:2885
Waardenburg Syndrome, Type 3
Blue irides, Hypopigmented skin patches, Cutaneous finger syndactyly, Partial albinism, Aganglion... OMIM:148820
Juvenile Glaucoma
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Abnormality iris mo... ORPHA:98977
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation ORPHA:85194
Infant Botulism
Mydriasis, Hypertension, Keratoconjunctivitis sicca, Cardiac arrest, Hypotension ORPHA:178478
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Waardenburg Syndrome, Type 2A
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... OMIM:193510
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization ORPHA:163934
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Serotonin Syndrome
Mydriasis, Hypertension, Abnormality of the autonomic nervous system, Tachycardia, Tremor, Hypote... ORPHA:43116
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon, Prolonged QT interval, Arrhythmia ORPHA:2151
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea OMIM:251505
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Cataract, Coxa valga, Short phalanx of finger, ... OMIM:132450
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... OMIM:193220
Winchester Syndrome
Osteolysis involving bones of the feet, Corneal opacity, Osteolysis involving bones of the upper ... OMIM:277950
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Sensory axonal neuropathy ORPHA:329314
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpigmentation, Optic... OMIM:609218
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Congenital miosis OMIM:108650
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Albinism, Ocular, Type I
Depigmented fundus, Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:612572
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Cataract ORPHA:401830
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc coloboma, Corneal opaci... OMIM:120200
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Cataract OMIM:212540
Optic Atrophy 2
Tremor, Optic atrophy OMIM:311050
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Lower limb undergrowth, Abnormality of femur morphology, Cat... ORPHA:2310
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma OMIM:210350
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris coloboma, Iris hypopig... ORPHA:3214
Dermoids Of Cornea
Corneal opacity OMIM:304730
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Hypoplasia of the fovea, Ocular albinism, Freckling, Hypopigmenta... ORPHA:79431
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Telangiectasia, Keratitis, Cataract, Corneal neovascularization, Conj... OMIM:278730
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Ocular albinism, Iris transillumination defect, Epistaxis, Albinism, Mel... OMIM:619172
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615434
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Brachydactyly, Syndactyly, Coloboma, Clinodactyly, Ocular anterior... OMIM:610023
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Broad thumb, Optic disc pallor, Cataract ORPHA:3173
Oculo-Palato-Cerebral Syndrome
Small hand, Retinal detachment, Short foot, Cataract, Remnants of the hyaloid vascular system, Le... ORPHA:2714
Oculocutaneous Albinism
Absent skin pigmentation, Hypoplasia of the fovea, Ocular albinism, Generalized hypopigmentation,... ORPHA:55
Senior-Loken Syndrome
Hypertension, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Retinal dystrophy, Cata... ORPHA:3156
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Small hand, Cataract OMIM:300261
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism OMIM:614171
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, White hair, Arachnodactyly, Cataract, Iris hypopigmentation, Abnormal hip bone m... ORPHA:2720
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Congenital Microcoria
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... ORPHA:566
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Cataract, Pigmentary retinopathy OMIM:268050
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis, Hypertension, Retinal infarction, Pulmonary arterial hypertension OMIM:613834
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Abnormality of epiphysis morphology, Epiphyseal dysplasia, Genu valgum, Retina... ORPHA:250984
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:370091
Proteus-Like Syndrome
Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology, Retinal detachment, Irregular hy... ORPHA:2969
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Coloboma, Macular atrophy OMIM:602499
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Astigmatism OMIM:248000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Metatarsus adductus, Epiphyseal stippling, Brushfield spots, Cataract, Pigmentary retinopathy, Op... OMIM:614866
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Cone-shaped epiphysis, Short metatarsal, Short metacarpal, Brachydactyly, Short phal... OMIM:614613
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:602772
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis OMIM:617388
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Pelvis-Shoulder Dysplasia
Short clavicles, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Optic ... OMIM:169550
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albi... OMIM:203100
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Sandal gap OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Metaphyseal dysplasia, Cranial nerve compression OMIM:250450
Sturge-Weber Syndrome
Optic atrophy, Conjunctival telangiectasia, Corneal dystrophy, Iris coloboma, Heterochromia iridi... ORPHA:3205
Piebald Trait
Partial albinism, Aganglionic megacolon, Piebaldism, Heterochromia iridis, White forelock, Absent... OMIM:172800
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Cataract ORPHA:85288
Albinism-Deafness Syndrome
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... ORPHA:998
Peroxisome Biogenesis Disorder 2A (Zellweger)
Metatarsus adductus, Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the cor... OMIM:214110
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Keratoconjunctivitis, Corneal neovasculari... OMIM:158310
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Iris coloboma ORPHA:2185
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Xeroderma Pigmentosum, Complementation Group G
Tremor, Cataract OMIM:278780
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Linear Verrucous Nevus Syndrome
Toe syndactyly, Iris coloboma, Short metacarpal, Cataract, Retinopathy, Abnormal cornea morpholog... ORPHA:2611
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Corneal opacity, Retinal degeneration OMIM:252650
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Cataract OMIM:608763
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Familial Dysautonomia
Optic atrophy, Hypertension, Corneal erosion, Orthostatic hypotension, Tachycardia, Heterochromia... ORPHA:1764
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... ORPHA:3163
Wyburn-Mason Syndrome
Cerebral hemorrhage, Retinal vascular malformation, Epistaxis, Iris hypopigmentation, Subarachnoi... ORPHA:53719
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:180105
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Macular dystrophy, Cataract, Retinopathy, Congestive h... ORPHA:225
Retinitis Pigmentosa 56
Pigmentary retinopathy, Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract, Bone... OMIM:613581
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... ORPHA:171844
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cataract OMIM:270800
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Hyperpigmentation of the skin, Motor axonal neuropathy, A... OMIM:231550
Bardet-Biedl Syndrome 9
Retinal degeneration, Polydactyly, Postaxial polydactyly, Bone spicule pigmentation of the retina... OMIM:615986
Frontofacionasal Dysplasia
Limbal dermoid, Brushfield spots, Iris coloboma, Cataract, Microcornea ORPHA:1791
Edinburgh Malformation Syndrome
Ulnar deviation of finger, Long fingers, Brushfield spots, Slender finger ORPHA:1895
Lissencephaly 8
Optic atrophy, Cataract OMIM:617255
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Pulmonic stenosis OMIM:618223
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:600132
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma OMIM:611638
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Cataract 11, Multiple Types
Cataract OMIM:610623
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Deafness-Hypogonadism Syndrome
Heterochromia iridis, Congenital stationary night blindness ORPHA:90646
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Cataract, Rod-cone dystrophy OMIM:614879
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger ORPHA:1466
Microphthalmia, Isolated 6
Microcornea, Retinal fold OMIM:613517
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Rod-cone dystrophy, Cupped ribs, I... ORPHA:168549
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Short ribs, Abnormal vitreous... ORPHA:93296
Zellweger Syndrome
Optic atrophy, Posterior embryotoxon, Epiphyseal stippling, Brushfield spots, Corneal opacity, Ca... ORPHA:912
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Proximal placement of thumb, Iris colobo... ORPHA:139471
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bone spi... OMIM:613810
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cataract, Optic atrophy OMIM:614877
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia ORPHA:324416
Optic Atrophy 5
Optic atrophy OMIM:610708
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Limb tremor, Cataract OMIM:616647
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract OMIM:617393
Waardenburg Syndrome, Type 2E
Blue irides, Hypopigmented skin patches, Hypoplasia of the iris, Ocular albinism, Hypopigmentatio... OMIM:611584
Cat-Eye Syndrome
Hip dysplasia, Chorioretinal coloboma, Abnormal rib morphology, Iris coloboma ORPHA:195
Anisocoria OMIM:106240
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 72
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy OMIM:616469
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract OMIM:120433
Morquio Syndrome C
Corneal opacity OMIM:252300
Lissencephaly 5
Optic atrophy, Cataract OMIM:615191
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Aniridia And Absent Patella
Aniridia, Aplasia/Hypoplasia of the patella, Cataract OMIM:106220
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Overlapping toe OMIM:618572
Nephronophthisis 11
Retinal degeneration, Anisocoria OMIM:613550
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Brachydactyly, Short 5th metacarpal, Juvenile cataract ORPHA:1264
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Stickler Syndrome, Type Ii
Long fingers, Arachnodactyly, Abnormal vitreous humor morphology, Retinal detachment, Cataract OMIM:604841
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Hypomelanosis Of Ito
Iris coloboma, Radial deviation of finger, Syndactyly, Macular hypopigmented whorls, streaks, and... OMIM:300337
Mental Retardation, Buenos Aires Type
Blue irides, Clinodactyly of the 5th finger, Fair hair OMIM:249630
Bickerstaff Brainstem Encephalitis
Mydriasis, Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Abnormal... ORPHA:79138
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Peripheral axonal neuropathy, Facial paralysis, Decreased corneal reflex, Abnormality of finger ORPHA:2560
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy, Intention tremor, Subcaps... OMIM:612674
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
Stickler Syndrome Type 1
Abnormality of epiphysis morphology, Abnormal vitreous humor morphology, Retinal detachment, Cata... ORPHA:90653
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Cataract 47
Microcornea, Cataract OMIM:612018
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Abruzzo-Erickson Syndrome
Toe syndactyly, Chorioretinal coloboma, Ulnar deviation of finger, Iris coloboma, Short toe, Colo... ORPHA:921
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Retinal Venous Beading
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... OMIM:180080
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Metatarsus adductus, 2-3 toe syndactyly, 4-5 toe syndactyly, Hyperextensibility of t... ORPHA:3041
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Retinal thinning, Ma... OMIM:270200
Arachnoid Cyst
Mydriasis, Cranial nerve compression, Facial palsy, Subarachnoid hemorrhage ORPHA:2356
Cocaine Intoxication
Mydriasis, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tach... ORPHA:90068
Duane Retraction Syndrome
Hypopigmented skin patches, Patchy hypopigmentation of hair, Chorioretinal coloboma, Triphalangea... ORPHA:233
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Abnormality of epiphysis morphology, Brushfield spots, Short distal p... ORPHA:1784
Triple A Syndrome
Optic atrophy, Motor axonal neuropathy, Generalized hyperpigmentation, Iris coloboma ORPHA:869
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract ORPHA:2528
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy, Posterior subcapsular cataract OMIM:617304
Trisomy 9P
Abnormal pupil morphology, Clinodactyly of the 5th finger, Brachydactyly ORPHA:236
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Metaphyseal spurs, Reduced proximal interphalangeal joint space, Abnormal... ORPHA:166011
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Pituitary Apoplexy
Mydriasis, Hypertension, Hypotension ORPHA:95613
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation ORPHA:3456
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Humero-Radial Synostosis
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Chorioretinal coloboma, Iris coloboma ORPHA:3265
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Ocular albinism, Arachnodactyly, Abnormal thumb morphology, Corneal opacity, Catar... ORPHA:2719
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Hermansky-Pudlak Syndrome 8
Optic disc pallor, Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism, Astigmatism OMIM:614077
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615233
Aniridia 2
Aniridia, Cataract OMIM:617141
Waardenburg Syndrome, Type 1
Blue irides, Partial albinism, Hypoplastic iris stroma, Hypopigmentation of the fundus, White eye... OMIM:193500
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Astigmatism OMIM:616680
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract, Short metacarpal ORPHA:627
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Sclerosis of finger phalanx, Optic disc pallor, Axonal loss, Corneal scarring, Tar... ORPHA:404454
Infantile Refsum Disease
Optic atrophy, Abnormality of epiphysis morphology, Facial palsy, Cardiomyopathy, Rod-cone dystro... ORPHA:772
Alternating Hemiplegia Of Childhood
Mydriasis, Abnormal T-wave, Cardiac conduction abnormality, Cardiomyopathy, Tremor, Arrhythmia, A... ORPHA:2131
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Scheie Syndrome
Retinal degeneration, Aortic regurgitation, Genu valgum, Corneal opacity, Aortic valve stenosis OMIM:607016
Refsum Disease, Classic
Retinal degeneration, Miosis, Cardiomyopathy, Rod-cone dystrophy, Congestive heart failure, Catar... OMIM:266500
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Cataract, Short palm, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85172
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... ORPHA:414
Attenuated Ch├ędiak-Higashi Syndrome
Epistaxis, Generalized hypopigmentation, Ocular albinism ORPHA:352723
Revesz Syndrome
Leukocoria, Fine, reticulate skin pigmentation, Megalocornea, Exudative retinopathy OMIM:268130
Facial Spasm
Anisocoria OMIM:134300
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Retinal detachment, Cataract, Premature graying o... ORPHA:3437
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Premature graying of hair ORPHA:79477
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy OMIM:136300
Hypopigmented skin patches, Aganglionic megacolon, Piebaldism, White eyelashes, Heterochromia iri... ORPHA:2884
Congenital Varicella Syndrome
Cataract ORPHA:291
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... OMIM:152950
Scorpion Envenomation
Mydriasis, Prominent U wave, Myocarditis, Hypertension, Premature ventricular contraction, Cardia... ORPHA:466677
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis, Bidirectional shunt, Elevated pulmonary artery pressure OMIM:619351
Hermansky-Pudlak Syndrome 7
Albinism, Epistaxis, Ocular albinism OMIM:614076
Warburg Micro Syndrome 3
Optic atrophy, Developmental cataract, Shallow anterior chamber, Clinodactyly of the 5th finger, ... OMIM:614222
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia, Cataract, Camptodactyly of finger ORPHA:272
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Abnormal left ventricular function, Abnormal iris pigmentation OMIM:132900
3-Methylglutaconic Aciduria, Type Vii
Cataract OMIM:616271
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
1Q21.1 Microduplication Syndrome
Hip dislocation, Hip dysplasia, Cataract ORPHA:250994
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Optic disc pallor OMIM:619328
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short finger, Juvenile cataract, Rod-cone dystrophy, Short proximal phalanx of finger, Short meta... OMIM:191482
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Broad thumb, Cataract, Broad hallux ORPHA:3433
Alagille Syndrome
Hypertension, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Abnormal ... ORPHA:52
Hermansky-Pudlak Syndrome 4
Albinism, Epistaxis, Hypoplasia of the fovea, Ocular albinism OMIM:614073
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Microcornea, Developmental cataract OMIM:615663
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Marginal corneal dystrophy, Chorioretinal atrophy OMIM:210370
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Vitreous floaters, Bone spicule pigmentation of the retina, Rod-c... OMIM:618173
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Cerebrooculofacioskeletal Syndrome 2