Gene Summary

Name:
tripartite motif-containing 39
Synonyms:
RING-B box-coiled-coil-B30.2,  RBCC-B30.2,  tfp,  1100001D15Rik,  Rnf23,  E130103K13Rik

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 large unstained cell number Trim39tm1b(EUCOMM)Hmgu HOM Late adult 7.29×10-06
abnormal gait Trim39tm1b(EUCOMM)Hmgu HOM   Middle aged adult 8.87×10-07
abnormal vibrissa morphology Trim39tm1b(EUCOMM)Hmgu HOM Early adult 1.46×10-06
corneal opacity Trim39tm1b(EUCOMM)Hmgu HOM   Late adult 2.82×10-05
abnormal optic disk morphology Trim39tm1b(EUCOMM)Hmgu HOM   Late adult 8.43×10-06
abnormal retina morphology Trim39tm1b(EUCOMM)Hmgu HOM Late adult 4.43×10-06
increased neutrophil cell number Trim39tm1b(EUCOMM)Hmgu HOM Late adult 1.47×10-06
increased fasting circulating glucose level Trim39tm1b(EUCOMM)Hmgu HOM Early adult 3.04×10-06
corneal vascularization Trim39tm1b(EUCOMM)Hmgu HOM   Late adult 2.37×10-05
abnormal vibrissa morphology Trim39tm1b(EUCOMM)Hmgu HOM Middle aged adult 5.00×10-09
absent vibrissae Trim39tm1b(EUCOMM)Hmgu HOM Middle aged adult 1.11×10-06
abnormal gait Trim39tm1b(EUCOMM)Hmgu HOM Early adult 4.95×10-05
fused cornea and lens Trim39tm1b(EUCOMM)Hmgu HOM Late adult 9.55×10-05
abnormal auditory brainstem response Trim39tm1b(EUCOMM)Hmgu HOM   Early adult 1.16×10-05
decreased fasting circulating glucose level Trim39tm1b(EUCOMM)Hmgu HOM   Late adult 1.18×10-05

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
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote Ambiguous
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (3 of 3)
Brain N/A homozygote 100% (3 of 3)
Ear N/A heterozygote 33.33% (1 of 3)
Ear N/A homozygote 33.33% (1 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 100% (3 of 3)
Eye N/A homozygote 100% (3 of 3)
Footplate N/A heterozygote 66.67% (2 of 3)
Footplate N/A homozygote 100% (3 of 3)
Forebrain N/A heterozygote 100% (3 of 3)
Forebrain N/A homozygote 100% (3 of 3)
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote 100% (3 of 3)
Handplate N/A heterozygote 66.67% (2 of 3)
Handplate N/A homozygote 100% (3 of 3)
Head N/A heterozygote 100% (3 of 3)
Head N/A homozygote 100% (3 of 3)
Heart N/A heterozygote 33.33% (1 of 3)
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 100% (3 of 3)
Hindbrain N/A homozygote 100% (3 of 3)
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote 100% (3 of 3)
Liver N/A heterozygote 33.33% (1 of 3)
Liver N/A homozygote 33.33% (1 of 3)
Lung N/A heterozygote 33.33% (1 of 3)
Lung N/A homozygote 33.33% (1 of 3)
Mandibular process N/A heterozygote 33.33% (1 of 3)
Mandibular process N/A homozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote 33.33% (1 of 3)
Maxillary process N/A homozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 100% (3 of 3)
Midbrain N/A homozygote 100% (3 of 3)
Oral cavity N/A heterozygote 33.33% (1 of 3)
Oral cavity N/A homozygote 33.33% (1 of 3)
Skin N/A heterozygote 33.33% (1 of 3)
Skin N/A homozygote 33.33% (1 of 3)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail somite N/A homozygote 33.33% (1 of 3)
Tail N/A heterozygote 100% (3 of 3)
Tail N/A homozygote 100% (3 of 3)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Trim39 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 Trim39 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia, Medial flaring of the eyebrow ORPHA:1168
Autosomal Dominant Keratitis
Aniridia, Coloboma, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the co... ORPHA:2334
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Aniridia 1
Aniridia, Glucose intolerance, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, ... OMIM:106210
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal ero... OMIM:217800
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance, Optic atrophy OMIM:311100
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Optic atrophy, Glucose intolerance, Diabetes mellitus OMIM:614296
Apolipoprotein A-I Deficiency
Corneal opacity, Anemia, Splenomegaly ORPHA:425
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy, Vacuolated lymphocytes OMIM:609055
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Optic atrophy, Corneal dystrophy ORPHA:2572
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, P... ORPHA:137902
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Morquio Syndrome C
Corneal opacity OMIM:252300
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Albinism, Aganglionic megacolon OMIM:600501
Winchester Syndrome
Corneal opacity OMIM:277950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Leber Congenital Amaurosis 4
Macular atrophy, Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Opti... OMIM:604393
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Central Retinal Vein Occlusion
Pigmentary retinopathy, Papilledema, Cystoid macular edema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Punctate keratitis, Hypereosinophilia, Keratoconjunctivitis sicca, C... OMIM:617388
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea, R... ORPHA:83461
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Optic Atrophy 5
Optic atrophy OMIM:610708
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning, Opacification of the ... OMIM:270200
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Concentric hypertrophic cardiomyopathy, Cataract, Optic atrophy, Macular ... OMIM:204200
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Optic atrophy, Retinal degeneration OMIM:252650
Intracranial Hypertension, Idiopathic
Papilledema, Hypertension OMIM:243200
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Keratoconjunct... OMIM:158310
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Retina... OMIM:251270
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Developmental cataract, Progressive cataract OMIM:246000
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Corneal opacity, Cataract, Microcor... OMIM:152950
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratoconjunctivitis sicca, Keratitis, Corneal neovascularization, Tela... OMIM:278730
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocyto... ORPHA:290
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy OMIM:613154
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Aortic regurgitation, Retinal degeneration OMIM:607016
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Hemolytic anemia, Ischemic stroke, Polycoria, Corneal opacity, Facial par... OMIM:175780
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Cone dystrophy, Optic disc pallor OMIM:268040
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Ataxia OMIM:618970
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Posterior subcapsular cataract, Bone... OMIM:602772
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-... OMIM:180105
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Coloboma, Retinal detachment OMIM:613153
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hyperinsulinemia, Cataract, Abnormal retinal va... ORPHA:791
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy OMIM:608611
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Remnants of the hyaloid vascular system, Persistent pupill... OMIM:221900
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Postlingual sensorineural ... ORPHA:52368
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Abnormal autonomic nervous system physiology, Thrombocytopenia... OMIM:598500
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity, Dilated cardiomyopathy, Bradycardia, Hypertrophic cardio... OMIM:618815
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Lcat Deficiency
Hemolytic anemia, Corneal opacity, Hypertension, Splenomegaly ORPHA:650
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bon... OMIM:613810
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia, Optic atrophy, Retinal vascular to... ORPHA:104
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Sensory axonal neuropathy ORPHA:329314
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Corneal opacity, Retinal detachm... ORPHA:2788
Sialidosis Type 2
Abnormal macular morphology, Corneal opacity, Splenomegaly ORPHA:87876
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Corneal opacity, Cardiomyopathy, Splenomegaly ORPHA:93476
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:616469
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Opacification of the corneal stroma, Hemolytic anemia OMIM:245900
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Interictal epileptiform activity, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Retinal dystrophy, Thrombocytopenia, Congest... ORPHA:49827
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Erythrokeratodermia Variabilis
Cataract, Diabetes mellitus, Corneal opacity ORPHA:317
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract, Coloboma ORPHA:324416
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Pigmentary retinopathy, Axonal loss, Corneal scarring, Cone/cone-rod dystrophy, Corneal neovascul... ORPHA:404454
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Retinal detachment, Sclerocornea OMIM:615145
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Rod-cone dystrophy, Drusen, Optic disc pallor OMIM:616394
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Corneal opacity, Pancytopenia, Cataract, Hepatosplenomegaly, Optic disc pallor ORPHA:309288
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Optic atrophy OMIM:230600
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Hyperglycemia, Sensorineural hearing impairment, Type II diabetes mellitus OMIM:520000
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract, Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atrophy, H... ORPHA:496790
Warburg-Cinotti Syndrome
Decreased corneal thickness, Retinal dystrophy, Symblepharon, Corneal neovascularization, Sterile... OMIM:618175
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Splenomegaly OMIM:602271
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Abnormal leukocyte morphology, Optic atrophy ORPHA:3151
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Congenital Sialidosis Type 2
Developmental cataract, Yellow/white lesions of the retina, Corneal opacity, Cataract, Optic atro... ORPHA:93400
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Corneal opacity, Cataract, Splenomegaly, Abnormality of peri... ORPHA:585
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Abnormal fifth cranial nerve morphology, Cornea... ORPHA:137596
Juvenile Glaucoma
Retinal vein occlusion, Abnormality iris morphology, Temporal optic disc pallor, Abnormality of t... ORPHA:98977
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Thiamine-responsive megaloblastic anemia, Retinal degeneration, Sideroblastic anemia,... OMIM:249270
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Fish-Eye Disease
Angina pectoris, Corneal opacity, Splenomegaly ORPHA:79292
Periventricular Nodular Heterotopia 7
Optic atrophy OMIM:617201
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Optic Atrophy 6
Optic atrophy OMIM:258500
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Camos Syndrome
Optic atrophy ORPHA:83472
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Rod-cone dystrophy, Segmental peripheral demyelination/remye... OMIM:311070
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... OMIM:609260
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Retinal dystrophy, Abnormality of the op... ORPHA:899
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hearing impairment, Dia... ORPHA:99886
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Hypoglycemia, Optic atrophy, Hypertrophic cardiomyopathy OMIM:614702
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Peroxisome Biogenesis Disorder 8B
Cataract, Optic atrophy, Retinal dystrophy OMIM:614877
Kid Syndrome
Keratitis, Aganglionic megacolon, Corneal neovascularization, Corneal erosion ORPHA:477
Wildervanck Syndrome
Pseudopapilledema, Facial palsy, Lens subluxation ORPHA:3456
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Sialidosis Type 1
Decreased nerve conduction velocity, Corneal opacity, Cataract, Splenomegaly, Retinopathy, Cherry... ORPHA:812
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Alpha-Mannosidosis
Cataract, Corneal opacity, Type II diabetes mellitus, Splenomegaly ORPHA:61
Optic Atrophy 9
Optic atrophy OMIM:616289
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor, Hypertrophic cardiomyopathy ORPHA:3173
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, Sclerocornea ORPHA:139471
Cofs Syndrome
Cataract, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Isolated Oxycephaly
Papilledema ORPHA:63440
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Hsd10 Mitochondrial Disease
Optic atrophy, Hypoglycemia, Retinal degeneration, Hypertrophic cardiomyopathy OMIM:300438
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Axial Spondylometaphyseal Dysplasia
Astigmatism, Optic atrophy, Rod-cone dystrophy ORPHA:168549
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Merrf
Optic atrophy ORPHA:551
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia OMIM:618856
Juvenile Sialidosis Type 2
Corneal opacity, Cataract, Optic atrophy, Hepatosplenomegaly, Cherry red spot of the macula ORPHA:93399
Short Syndrome
Insulin resistance, Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea,... ORPHA:3163
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy OMIM:619323
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Optic atrophy, Cardiomyopathy ORPHA:26792
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Iris coloboma ORPHA:2185
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Facial palsy, Anemia, Splenomegaly, Optic atrophy, Hepatosplen... OMIM:611490
Srd5A3-Cdg
Coloboma, Microcytic anemia, Optic disc hypoplasia, Cataract, Optic atrophy, Rod-cone dystrophy ORPHA:324737
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:616680
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Neuroectodermal Melanolysosomal Disease
Abnormality of the optic nerve, Optic atrophy, Aplasia/Hypoplasia of the macula, Macular dystrophy ORPHA:33445
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Posterior embryotoxon, Hypertensive crisis, Aganglionic megacolon, T... ORPHA:567
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Combined Saposin Deficiency
Optic atrophy, Splenomegaly OMIM:611721
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Iris colobom... ORPHA:448237
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Rod-cone dystrophy, Decreased nerve conduction velocity OMIM:612674
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Wolfram-Like Syndrome
Optic atrophy, Peripheral axonal neuropathy, Glucose intolerance, Diabetes mellitus ORPHA:411590
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Optic disc pallor OMIM:619328
Riboflavin Transporter Deficiency
Iris hypopigmentation, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physi... ORPHA:97229
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Facial palsy, Anemia, Splenomegaly, Optic atrophy OMIM:615085
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity OMIM:619339
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Cherry red spot of the macula, Opacification of ... OMIM:256540
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Elliptocytosis, Retinal pigment epithel... OMIM:616959
Scheie Syndrome
Abnormal nerve conduction velocity, Corneal opacity, Aortic regurgitation, Splenomegaly ORPHA:93474
Hurler-Scheie Syndrome
Aortic regurgitation, Corneal opacity, Splenomegaly, Pulmonary arterial hypertension, Mitral regu... OMIM:607015
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy, Hypertrophic cardiomyopathy OMIM:618229
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Cherubism
Optic atrophy ORPHA:184
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Antiphospholipid Syndrome, Familial
Iritis, Autoimmune thrombocytopenia, Central retinal artery occlusion, Retinal vasculitis, Kerati... OMIM:107320
Infantile Refsum Disease
Arrhythmia, Cataract, Facial palsy, Optic atrophy, Rod-cone dystrophy, Cardiomyopathy ORPHA:772
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Cataract, Optic atrophy, Retinal dysplasia ORPHA:272
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of retinal blood... OMIM:609033
Lacrimoauriculodentodigital Syndrome
Decreased corneal sensation, Limbal stem cell deficiency, Increased corneal thickness, Keratoconj... ORPHA:2363
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy OMIM:612989
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Hypertrophic cardiomyopathy OMIM:618228
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic atrophy OMIM:614947
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Cystinosis
Type I diabetes mellitus, Portal hypertension, Retinopathy, Corneal opacity ORPHA:213
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Warburg Micro Syndrome 1
Developmental cataract, Optic atrophy, Microcornea OMIM:600118
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of n... ORPHA:1830
Histiocytoid Cardiomyopathy
Congenital aphakia, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Corneal ... ORPHA:137675
Zellweger Syndrome
Abnormal chorioretinal morphology, Brushfield spots, Posterior embryotoxon, Corneal opacity, Cata... ORPHA:912
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Multiple Sulfatase Deficiency
Peripheral demyelination, Corneal opacity, Retinal degeneration, Splenomegaly OMIM:272200
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Optic atrophy, Microcornea ORPHA:35173
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Optic nerve dysplasia, Opacification of the corneal stroma OMIM:615287
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Normochromic microc... OMIM:610198
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Aortic regurgitation OMIM:616603
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cataract, Optic atrophy, Optic nerve hypoplasia ORPHA:163937
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma, Peripheral axonal neuropathy, Splenom... OMIM:205400
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Thrombocytopenia, Abnormality of the optic nerve, Abnormal... ORPHA:3226
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... ORPHA:206448
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Papilledema, Facial diplegia OMIM:122860
Familial Dysautonomia
Heterochromia iridis, Orthostatic hypotension, Corneal erosion, Corneal opacity, Hypertension, Ta... ORPHA:1764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Retinal atrophy, Coloboma, Corneal opacity, Retinal dysplasia, Cataract, Peters anom... OMIM:236670
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Opacification of the corneal stroma OMIM:215250
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Hypoglycemia, Retinal degeneration, Hypertrophic cardiomyopathy OMIM:618329
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Optic atrophy, Aortic regurgitation OMIM:614651
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Charcot-Marie-Tooth Disease Type 1F
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