Gene Summary

Name:
zinc finger protein 930
Synonyms:
zinc finger protein,  D10627

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
abnormal optic disk morphology Zfp930tm1b(KOMP)Wtsi HOM   Early adult 6.08×10-05
persistence of hyaloid vascular system Zfp930tm1b(KOMP)Wtsi HOM Early adult 7.99×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Kidney  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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)
cecum 3.33% (12 of 360)
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%
mesenteric lymph node 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)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right fundus

15 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Human diseases caused by Zfp930 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 Zfp930 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Degcags Syndrome
OMIM:619488

The table below shows human diseases predicted to be associated to Zfp930 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Optic Atrophy 5
Optic atrophy OMIM:610708
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Optic Atrophy 6
Optic atrophy OMIM:258500
Nanophthalmos 4
Optic disc drusen OMIM:615972
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, Optic neuritis OMIM:165200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Wagner Vitreoretinopathy
Optic atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Photoreceptor layer loss on macu... OMIM:609913
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608553
Birdshot Chorioretinopathy
Optic disc pallor, Photoreceptor layer loss on macular OCT, Vitreous floaters, Choroidal neovascu... ORPHA:179
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... ORPHA:209943
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Optic Atrophy 9
Optic atrophy OMIM:616289
Isolated Oxycephaly
Papilledema ORPHA:63440
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels OMIM:604393
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Camos Syndrome
Optic atrophy ORPHA:83472
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Cone dystrophy OMIM:268040
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy OMIM:616188
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Merrf
Optic atrophy ORPHA:551
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Rod-cone dystrophy, Segmental peripheral demyelination/remye... OMIM:311070
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Optic disc coloboma, Remnants of the hyaloid vascu... OMIM:120200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy OMIM:616171
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:615434
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Periventricular Nodular Heterotopia 7
Optic atrophy OMIM:617201
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Optic atrophy, Decreased motor nerve conduction velocity, Axonal degenerati... OMIM:609260
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Spinocerebellar Ataxia, Autosomal Recessive 29
Peripheral axonal neuropathy, Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:612572
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood v... OMIM:604116
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Abnormality of the optic disc, Retinal vascular tortuosity ORPHA:440727
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy OMIM:619323
Leber Congenital Amaurosis 14
Retinal dystrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613341
Retinitis Pigmentosa 41
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:612095
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Peripheral vitreous opacit... ORPHA:137902
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Cherubism
Optic atrophy ORPHA:184
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Retinitis Pigmentosa 72
Optic disc pallor, Peripapillary atrophy, Rod-cone dystrophy OMIM:616469
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... OMIM:602772
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor OMIM:616732
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma, Iris coloboma ORPHA:1473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Neuroectodermal Melanolysosomal Disease
Aplasia/Hypoplasia of the macula, Optic atrophy, Macular dystrophy, Abnormality of the optic nerve ORPHA:33445
Null Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Peripheral demyelination, Decreased ne... ORPHA:280234
Retinitis Pigmentosa 10
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation ORPHA:3456
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Rod-cone dystrophy, Macular degeneration OMIM:204200
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Papilledema OMIM:122860
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials OMIM:616648
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Microphthalmia, Isolated 8
Coloboma, Retinal detachment, Optic nerve hypoplasia OMIM:615113
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613810
Gm1-Gangliosidosis, Type Ii
Optic atrophy OMIM:230600
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy OMIM:618324
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Leber Optic Atrophy
Leber optic atrophy, Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity OMIM:535000
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Sensory axonal neuropathy ORPHA:329314
Optic Atrophy 1
Optic atrophy OMIM:165500
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory axonal neuro... ORPHA:457205
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Motor axonal neuropathy, Optic atrophy, Optic disc pallor, Sensory axonal neuropathy OMIM:609541
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Optic disc coloboma, Lens subluxation, Retinal coloboma OMIM:216820
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Juvenile Glaucoma
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Increased cup-to-di... ORPHA:98977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Behr Syndrome
Optic atrophy OMIM:210000
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Hypervitaminosis A, Susceptibility To
Papilledema OMIM:240150
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Norrie Disease
Optic atrophy, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Diencephalic Syndrome
Optic atrophy ORPHA:1672
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy OMIM:248000
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Motor axonal neuropathy, Absent brainstem auditory res... ORPHA:1215
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Spastic Paraplegia 2, X-Linked
Optic atrophy OMIM:312920
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy OMIM:615597
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Wolfram-Like Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:411590
Retinitis Pigmentosa 66
Optic disc pallor, Rod-cone dystrophy OMIM:615233
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Optic atrophy OMIM:270500
Dermoid Cysts, Familial Frontonasal
Papilledema OMIM:600679
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Pontocerebellar Hypoplasia, Type 9
Optic atrophy, Peripheral axonal neuropathy OMIM:615809
Optic Pathway Glioma
Optic atrophy, Papilledema, Neurofibromas ORPHA:2086
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy OMIM:617698
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Riboflavin Transporter Deficiency
Optic disc pallor, Abnormal cranial nerve morphology, Facial palsy, Abnormality of macular pigmen... ORPHA:97229
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Retinal dystrophy OMIM:614877
Sarcosinemia
Optic atrophy ORPHA:3129
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... ORPHA:320406
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Facial palsy OMIM:611490
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Lissencephaly 8
Optic atrophy OMIM:617255
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Triple A Syndrome
Optic atrophy, Motor axonal neuropathy, Iris coloboma ORPHA:869
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Cherry red spot of the macula OMIM:615281
Schindler Disease, Type I
Optic atrophy OMIM:609241
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... OMIM:609033
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Peripheral demyelination OMIM:618237
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Srd5A3-Cdg
Coloboma, Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy ORPHA:324737
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Zika Virus Disease
Macular atrophy, Lens subluxation, Optic disc hypoplasia, Abnormality of the optic disc, Retinal ... ORPHA:448237
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy, Sensory axonal neuropathy OMIM:608804
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy OMIM:618688
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy OMIM:612674
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy OMIM:300475
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Krabbe Disease
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:245200
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor ORPHA:3173
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy OMIM:618253
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal dystrophy ORPHA:49827
Leber Optic Atrophy And Dystonia
Leber optic atrophy, Optic atrophy OMIM:500001
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic neuropathy OMIM:618249
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor OMIM:619328
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... OMIM:601152
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Peripheral axonal neuropathy ORPHA:401768
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy OMIM:144755
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy OMIM:618346
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Glial remnants anterior to the optic disc, Macular h... ORPHA:91495
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... OMIM:616959
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Arts Syndrome
Optic atrophy OMIM:301835
Woods Syndrome
Optic atrophy OMIM:615236
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Rod-cone dystrophy OMIM:617276
Spinocerebellar Ataxia 13
Optic atrophy OMIM:605259
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor OMIM:616204
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Optic atrophy OMIM:613559
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Spastic Paraplegia Type 2
Optic atrophy ORPHA:99015
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2801
Developmental And Epileptic Encephalopathy 47
Optic disc pallor OMIM:617166
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor OMIM:619170
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Axonal degeneration, Retinopathy OMIM:616811
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy OMIM:618233
Cerebral Visual Impairment
Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Optic nerve hypoplasia, Increased c... ORPHA:447788
Distal Monosomy 13Q
Optic atrophy, Iris coloboma ORPHA:1590
Aica-Ribosuria Due To Atic Deficiency
Optic atrophy OMIM:608688
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, Ma... OMIM:619260
Canavan Disease
Optic atrophy OMIM:271900
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Macular hypoplasia, Iris coloboma OMIM:615219
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Retinal dystrophy OMIM:614559
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy ORPHA:504476
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Retinal fold, Iris coloboma OMIM:221900
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic neuropathy, Optic disc pallor ORPHA:101076
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial nerve compression, Facial paralysis OMIM:259710
Stt3B-Cdg
Optic atrophy ORPHA:370924
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Leukodystrophy, Progressive, Early Childhood-Onset
Optic disc pallor OMIM:617762
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Macular coloboma, Optic disc pallor, Aplasia/Hypoplasia of the optic nerve ORPHA:423479
Neurofibromatosis Type 2
Abnormality of the optic nerve, Facial palsy, Peripheral Schwannoma, Bilateral vestibular Schwann... ORPHA:637
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Facial palsy OMIM:218400
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocity ORPHA:320375
Idiopathic Anterior Uveitis
Increased cup-to-disc ratio, Macular edema ORPHA:280914
Dysosteosclerosis
Optic atrophy, Abnormal cranial nerve morphology ORPHA:1782
Hermansky-Pudlak Syndrome 8
Optic disc pallor, Hypoplasia of the fovea, Ocular albinism OMIM:614077
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:485421
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy OMIM:604121
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Motor axonal neuropathy, Abnormal autonomic nervous syste... OMIM:231550
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
Spinocerebellar Ataxia Type 13
Optic atrophy, Optic disc pallor ORPHA:98768
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked pot... ORPHA:1187
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Retinal dystrophy, Decreased nerve conduction velocity, Rod-cone dystrophy OMIM:614863
Hyperoxaluria, Primary, Type I
Optic atrophy, Optic neuropathy, Retinal crystals, Choroidal neovascularization, Retinopathy OMIM:259900
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormality of the optic disc ORPHA:363417
Sturge-Weber Syndrome
Optic atrophy, Iris coloboma, Abnormal retinal vascular morphology, Retinal detachment, Abnormal ... ORPHA:3205
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Iris coloboma ORPHA:3301
Phace Association
Optic atrophy, Optic nerve hypoplasia, Horner syndrome, Increased retinal vascularity OMIM:606519
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy OMIM:610651
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormality of the optic disc, Congenital stationary night blindness ORPHA:293967
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Optic atrophy OMIM:609037
Stankiewicz-Isidor Syndrome
Abnormality of the optic disc OMIM:617516
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy ORPHA:95433
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Rod-cone dystrophy OMIM:601539
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Abnormality of the optic disc, Facial palsy, Iris colob... ORPHA:508498
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Retinal capillary hemangioma, Macular edema... ORPHA:892
Cancer-Associated Retinopathy
Optic atrophy, Optic disc pallor, Granular macular appearance, Retinal pigment epithelial atrophy... ORPHA:71505
Bardet-Biedl Syndrome 20
Papilledema, Retinal vascular tortuosity, Rod-cone dystrophy OMIM:619471
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Retinal dystrophy, Abnormality of the optic disc ORPHA:397715
Norrie Disease
Optic atrophy, Ectopia lentis, Abnormal retinal vascular morphology, Retinal detachment, Abnormal... ORPHA:649
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Papilledema OMIM:108050
7Q11.23 Microduplication Syndrome
Abnormality of the optic disc ORPHA:96121
Pineoblastoma
Papilledema, Retinoblastoma ORPHA:251909
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema OMIM:127000
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Lens coloboma, Hypoplasia of the fovea, Iris coloboma OMIM:619539
Degcags Syndrome
OMIM:619488

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zfp930

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp930.

No publications found that use IMPC mice or data for Zfp930.

Order Mouse and ES Cells

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

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Zfp930tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Zfp930tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter