Gene Summary

Name:
gap junction protein, alpha 8
Synonyms:
alpha 8 connexin,  dcm,  connexin 50,  Lop10,  Cnx50,  Cx50,  Aey5

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased kidney weight Gja8tm1b(EUCOMM)Hmgu HOM Early adult 1.06×10-13
increased circulating aspartate transaminase level Gja8tm1b(EUCOMM)Hmgu HOM Early adult 1.19×10-06
abnormal retina morphology Gja8tm1b(EUCOMM)Hmgu HOM Early adult 2.59×10-14
increased circulating amylase level Gja8tm1b(EUCOMM)Hmgu HOM Early adult 5.31×10-11

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Eye  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 0.0% (0 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 3)
Ear N/A heterozygote Not available
Ear N/A homozygote 0.0% (0 of 3)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (3 of 3)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 3)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 3)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 3)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (3 of 3)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 3)
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote 66.67% (2 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Gja8 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 Gja8 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Gja8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
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
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
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
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract 44
Developmental cataract OMIM:616509
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microphthalmia, Isolated, With Coloboma 7
Coloboma, Microphthalmia OMIM:614497
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea, Microphthalmia OMIM:251505
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Aniridia 3
Cataract OMIM:617142
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Microcornea OMIM:610202
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Trichomegaly
Cataract OMIM:190330
Cataract 7
Developmental cataract OMIM:115660
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract OMIM:604307
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... ORPHA:83461
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Childhood-onset truncal obesity, Cataract, Truncal obesity OMIM:610156
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retina... OMIM:212550
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... OMIM:610256
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Galactosemia Iv
Cataract OMIM:618881
Pentosuria
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... ORPHA:2843
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Nathalie Syndrome
Cataract ORPHA:2663
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Hypoplasia of the iris OMIM:223540
Bardet-Biedl Syndrome 18
Retinal dystrophy, Obesity, Cataract, Rod-cone dystrophy OMIM:615995
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Facial Paresis, Hereditary Congenital, 1
Decreased corneal reflex OMIM:601471
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
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract OMIM:617547
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia, Large for gestational age ORPHA:2432
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Cataract 42
Developmental cataract OMIM:115900
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Aniridia 2
Aniridia, Cataract OMIM:617141
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Iris coloboma, Bilateral microphthalmos OMIM:611638
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, R... ORPHA:231736
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Microphthalmia, Cataract OMIM:120433
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Microspherophakia-Metaphyseal Dysplasia
Lens coloboma, Microspherophakia, Lens subluxation OMIM:157151
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpig... OMIM:609218
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Cataract, Obesity OMIM:601794
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris coloboma, Reti... ORPHA:1473
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Galactosemia Ii
Cataract OMIM:230200
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Cataract, Obesity ORPHA:363741
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Microphthalmia, Retinal non... OMIM:221900
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Cataract 47
Microcornea, Cataract OMIM:612018
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Peters anomaly, Iris coloboma, Coloboma, Ocular anterior segment dysgenesis OMIM:610023
Microphthalmia, Isolated 6
Microcornea, Retinal fold, Microphthalmia OMIM:613517
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Cataract, Retinopathy, Microco... OMIM:616171
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Norrie Disease
Optic atrophy, Retinal fold, Microphthalmia, Shallow anterior chamber, Hypoplasia of the iris, Re... OMIM:310600
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia, Retinal dysplasia, Coloboma, Ocular anterior segment dysg... ORPHA:324416
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Cahmr Syndrome
Lamellar cataract OMIM:211770
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Sclerocornea, Anophthalmia, Cataract, Coloboma, Microcornea, Ectopia pupillae OMIM:615877
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Mic... ORPHA:91495
Microphthalmia, Isolated 5
Foveoschisis, Microphthalmia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina,... OMIM:611040
Nanophthalmos 4
Microphthalmia OMIM:615972
Idiopathic Uveal Effusion Syndrome
Retinal fold, Microphthalmia, Exudative retinal detachment, Abnormal anterior eye segment morphol... ORPHA:209956
Morm Syndrome
Retinal dystrophy, Truncal obesity, Cataract, Retinal atrophy ORPHA:75858
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Microphthalmia, Retinal fold, Retinal dys... OMIM:251270
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
2Q24 Microdeletion Syndrome
Microphthalmia, Small for gestational age, Abnormality iris morphology, Failure to thrive, Catara... ORPHA:1617
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Anterior Segment Dysgenesis 5
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... OMIM:604229
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Abnormal pupil morphology, Iris hypopigmentation, Astig... ORPHA:54
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Cystoid macular ... OMIM:267760
Retinal Dystrophy And Obesity
Retinal dystrophy, Obesity, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal de... OMIM:616188
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Attenuation of ret... ORPHA:179
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Hypoplasia of the retina, Cataract, Retinal dystrophy OMIM:263100
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria OMIM:257910
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Cataract 43
Subcapsular cataract OMIM:616279
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Nathalie Syndrome
Cataract OMIM:255990
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Microphthalmia, Chorioretinal coloboma, Posterior embryotoxon,... OMIM:612109
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Microphthalmia, Tractional retinal detachment, Vitreous floate... ORPHA:891
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea OMIM:615147
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Cerulean cataract OMIM:616732
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Retinal detachment, Vitre... ORPHA:39044
Congenital Microcoria
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... ORPHA:566
Dysequilibrium Syndrome
Cataract ORPHA:1766
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Gombo Syndrome
Microphthalmia OMIM:233270
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Posterior synechiae of the anterior chamber ORPHA:280914
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Small for gestational age OMIM:212540
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... ORPHA:209959
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy OMIM:618195
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Cataract, Iris coloboma ORPHA:171860
Cataract 49
Posterior cortical cataract OMIM:619593
Retinitis Pigmentosa 56
Nuclear cataract, Posterior subcapsular cataract OMIM:613581
Microphthalmia, Syndromic 13
Coloboma, Microcornea, Microphthalmia OMIM:300915
Microphthalmia, Isolated 8
Coloboma, Optic nerve hypoplasia, Microphthalmia OMIM:615113
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul... ORPHA:370097
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Dermoids Of Cornea
Corneal opacity OMIM:304730
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Bardet-Biedl Syndrome 13
Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal bloo... OMIM:615990
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Microphthalmia, Cataract, Small for gestational age OMIM:610756
Spondylo-Ocular Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation ORPHA:85194
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:601706
Bardet-Biedl Syndrome 14
Obesity, Rod-cone dystrophy OMIM:615991
Neovascular Glaucoma
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... ORPHA:94058
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Biemond Syndrome Type 2
Coloboma, Microphthalmia ORPHA:141333
Vitreoretinochoroidopathy
Microphthalmia, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhag... OMIM:193220
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Sclerocornea, Iris coloboma, Retinal detachment, Microcornea, Ocular anterior seg... OMIM:615145
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Microphthalmia, Sclerocornea, Anophthalmia, Retinal dystrophy, Iris colob... ORPHA:139471
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc colobom... OMIM:120200
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Microcornea, Macular atrophy OMIM:602499
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract ORPHA:2278
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Galactokinase Deficiency
Nuclear cataract, Cataract ORPHA:79237
Pellagra-Like Syndrome
Cataract OMIM:260650
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Coloboma, Micr... OMIM:610125
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Albinism, Oculocutaneous, Type Iv
Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:195
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Corneal opacity, Cataract, Coloboma OMIM:613153
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Weight loss, Abnormal pupil morphology, Corneal op... ORPHA:3163
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Truncal obesity, Pigmentary retinopathy OMIM:268050
Late-Onset Retinal Degeneration
Macular atrophy, Multifocal subretinal deposits, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Microphthalmia OMIM:274270
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age ORPHA:85288
Nance-Horan Syndrome
Retinal detachment, Microcornea, Microphthalmia, Cataract ORPHA:627
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Microphthalmia, Lens subluxation, Retinal a... ORPHA:85167
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation OMIM:126070
Otodental Syndrome
Lens coloboma, Microphthalmia, Retinal coloboma, Iris coloboma, Cataract, Microcornea ORPHA:2791
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Cataract OMIM:617393
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Cataract ORPHA:1466
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... OMIM:305390
Anisocoria
Anisocoria OMIM:106240
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Microphthalmia, Myopic astigmatism, Chorioretinal dysplasia, Chorior... OMIM:152950
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon OMIM:602482
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Bardet-Biedl Syndrome 11
Obesity, Retinopathy OMIM:615988
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Facial Spasm
Anisocoria OMIM:134300
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Cataract 24
Anterior polar cataract OMIM:601202
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Morquio Syndrome C
Corneal opacity OMIM:252300
Bardet-Biedl Syndrome 9
Retinal degeneration, Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Trunc... OMIM:615986
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract OMIM:615181
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:1777
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Bardet-Biedl Syndrome 12
Obesity, Rod-cone dystrophy OMIM:615989
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Rod-cone dystrophy, Macular degeneration OMIM:204200
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy OMIM:616722
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Warburg Micro Syndrome 3
Optic atrophy, Developmental cataract, Microphthalmia, Shallow anterior chamber, Cataract, Microc... OMIM:614222
Warburg Micro Syndrome 1
Optic atrophy, Developmental cataract, Microphthalmia, Failure to thrive, Microcornea OMIM:600118
Proteus-Like Syndrome
Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology, Retinal detachment, Cataract ORPHA:2969
Wagr Syndrome
Obesity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma OMIM:169550
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Papillorenal Syndrome
Microphthalmia, Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc co... OMIM:120330
Warburg Micro Syndrome 4
Optic atrophy, Microcornea, Microphthalmia, Developmental cataract OMIM:615663
Nail-Patella Syndrome
Lester's sign, Microphakia, Antecubital pterygium, Cataract, Microcornea, Keratoconus OMIM:161200
Pierson Syndrome
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... OMIM:609049
Bardet-Biedl Syndrome 10
Retinal dystrophy, Obesity, Rod-cone dystrophy OMIM:615987
Intermediate Uveitis
Vitreous floaters, Macular edema, Anterior uveitis, Optic neuritis, Vitreous snowballs, Posterior... ORPHA:279914
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma, Microphthalmia OMIM:617306
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Aplasia/Hypoplasia of the iris, Corneal opac... ORPHA:290
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Galactose Epimerase Deficiency
Weight loss, Cataract ORPHA:79238
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... OMIM:180500
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Leber Congenital Amaurosis
Keratoconus, Abnormality of the optic disc, Abnormality of retinal pigmentation, Cataract ORPHA:65
Bardet-Biedl Syndrome 6
Retinal dystrophy, Obesity, Rod-cone dystrophy OMIM:605231
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Juvenile Glaucoma
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Abnormality iris mo... ORPHA:98977
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Microphthalmia, Developmental cataract OMIM:302350
Retinitis Pigmentosa 77
Cystoid macular edema, Posterior subcapsular cataract, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microphthalmia, Cataract OMIM:618805
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Retinal degeneration, Abnormally large globe, Cataract, Coloboma OMIM:615249
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Exudative vitreoretinopathy, Retinal detachment, Corneal opacity, Abnormal vitreo... ORPHA:2788
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Microphthalmia, Ectopia lentis OMIM:601552
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Cataract OMIM:617228
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Iris hypopigmentation, Cataract ORPHA:67048
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... OMIM:617406
Linear Verrucous Nevus Syndrome
Iris coloboma, Retinopathy, Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea ORPHA:2611
Bardet-Biedl Syndrome 5
Obesity, Macular dystrophy, Rod-cone dystrophy OMIM:615983
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Microphthalmia, Antecubital pterygium, Corneal opacity, Axillary pterygium OMIM:619339
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... ORPHA:137599
Galactose Mutarotase Deficiency
Failure to thrive, Cataract ORPHA:570422
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:48431
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
3-Methylglutaconic Aciduria, Type Vii
Cataract OMIM:616271
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Microphthalmia, Cataract OMIM:214150
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Corneal opacity, Cataract, Coloboma, Bilateral microphtha... ORPHA:2399
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Microphthalmia, Failure to thrive, Cataract, Microcornea OMIM:257850
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Humero-Radial Synostosis
Chorioretinal coloboma, Aplasia/Hypoplasia affecting the eye, Iris coloboma ORPHA:3265
Mevalonic Aciduria
Nuclear cataract, Cataract OMIM:610377
3Q29 Microduplication Syndrome
Microphthalmia, Sclerocornea, Aniridia, Iris coloboma, Cataract, Obesity ORPHA:251038
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... ORPHA:414
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Mmep Syndrome
Microphthalmia ORPHA:3434
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, R... ORPHA:899
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Retinal dystrophy, Cataract, Failure to thrive OMIM:614877
Developmental And Epileptic Encephalopathy 35
Cataract OMIM:616647
Joubert Syndrome 22
Coloboma, Microphthalmia OMIM:615665
Adams-Oliver Syndrome 2
Optic atrophy, Developmental cataract, Microphthalmia OMIM:614219
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450