Gene Summary

Name:
par-3 family cell polarity regulator
Synonyms:
Pard3a,  ASIP,  PAR-3,  Par3,  D8Ertd580e

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 retina morphology Pard3tm1b(KOMP)Wtsi HET Early adult 3.04×10-09
preweaning lethality, complete penetrance Pard3tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal optic disk morphology Pard3tm1b(KOMP)Wtsi HET Early adult 2.42×10-05
decreased basophil cell number Pard3tm1b(KOMP)Wtsi HET Early adult 5.64×10-06
decreased spleen weight Pard3tm1b(KOMP)Wtsi HET Early adult 9.88×10-05

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
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)
Liver  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 Ambiguous
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  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)
Skin  Wholemount images heterozygote 100% (2 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 100% (2 of 2)
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)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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.

Adult LacZ

LacZ Images Wholemount

25 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Pard3 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 Pard3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy, Vacuolated lymphocytes OMIM:609055
Optic Atrophy 5
Optic atrophy OMIM:610708
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Optic atrophy OMIM:615085
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Optic Atrophy 6
Optic atrophy OMIM:258500
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Splenomegaly, Optic atrophy OMIM:602271
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Degenerative liver disease, Optic disc pallor OMIM:268040
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy OMIM:604393
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Optic disc pallor, Reticulocytosis, Facia... OMIM:611490
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Leber Congenital Amaurosis 9
Optic disc pallor, Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy OMIM:608553
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Retinal detachment, Abnormality of macular pigmentation, Optic disc pallor,... OMIM:300476
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Retinal detachment, Retinal fold, O... OMIM:251270
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinal Detachment
Retinal detachment OMIM:180050
Optic Atrophy 9
Optic atrophy OMIM:616289
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Optic atrophy OMIM:230600
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Abnormal autonomic nervous system physiology, Neutrop... OMIM:598500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Macular degeneration, Vacuolated lymphocytes, Optic atrophy OMIM:204200
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Retinal degeneration, Jaundice, Giant cell hepatitis, Optic atrophy OMIM:214980
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic... OMIM:311070
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of r... OMIM:204100
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis OMIM:615558
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Retinal Venous Beading
Retinal neovascularization, Neutropenia, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Camos Syndrome
Optic atrophy ORPHA:83472
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Periventricular Nodular Heterotopia 7
Optic atrophy OMIM:617201
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Retinal vascular tortuosity, Optic atrophy ORPHA:104
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy OMIM:612572
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Autosomal Recessive Spastic Paraplegia Type 74
Peripheral axonal neuropathy, Optic atrophy ORPHA:468661
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anisocytosis, Retinal atrophy, Anemia, Photoreceptor layer lo... OMIM:616959
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Optic atrophy ORPHA:496756
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Merrf
Optic atrophy ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased sensory nerve conduction velocity, Decreased number of peripheral... OMIM:609260
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Nescav Syndrome
Peripheral axonal neuropathy, Optic atrophy OMIM:614255
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Onion bulb formation, Optic atrophy OMIM:615035
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy OMIM:619323
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Retinitis Pigmentosa 58
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613617
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy OMIM:180105
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Optic atrophy OMIM:256730
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Pigmentary retinopathy, Rod-cone dystrophy, Diffuse hepatic steatosis, Optic atrophy OMIM:264470
Neuroectodermal Melanolysosomal Disease
Macular dystrophy, Aplasia/Hypoplasia of the macula, Optic atrophy, Abnormality of the optic nerve ORPHA:33445
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Optic atrophy ORPHA:178377
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Papilledema, Anemia, Lymphadenopathy OMIM:607115
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy OMIM:616562
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Optic atrophy ORPHA:79312
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Cherubism
Optic atrophy ORPHA:184
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Optic disc hypoplasia, Peripheral vitreous opacit... ORPHA:137902
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Optic atrophy ORPHA:289916
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Norrie Disease
Retinal fold, Retinal detachment, Retinal dysplasia, Optic atrophy OMIM:310600
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:616469
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor OMIM:616732
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Optic atrophy ORPHA:466794
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Papilledema OMIM:240150
Retinitis Pigmentosa 14
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriola... OMIM:600132
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy ORPHA:1021
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Papilledema OMIM:122860
Abetalipoproteinemia
Retinopathy, Peripheral demyelination, Retinal degeneration, Acanthocytosis OMIM:200100
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Retinal degeneration, Thiamine-responsive megaloblastic anemia, Cone/cone-r... OMIM:249270
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia, Hepatomegaly, Optic atrophy OMIM:251900
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Retinal detachment, Optic atrophy ORPHA:1473
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Retinal hemorrhage, Neutropenia, Anemia, Reticulocytop... ORPHA:88
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Retinal dystrophy, Thrombocytopenia, Optic atrophy ORPHA:49827
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Cranial nerve compression, Facial paralysis, Thrombocyt... OMIM:259710
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Optic atrophy ORPHA:27
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Sclerosteosis
Facial palsy, Optic atrophy ORPHA:3152
Optic Atrophy 1
Optic atrophy OMIM:165500
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, Abnormal peripheral action potential amplitude, Decreased nerve conduc... ORPHA:457205
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615233
Late-Onset Retinal Degeneration
Fundus atrophy, Peripapillary atrophy, Multifocal subretinal deposits, Choroidal neovascularizati... ORPHA:67042
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Optic neuropa... ORPHA:98977
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Leber Optic Atrophy
Leber optic atrophy, Optic neuropathy, Optic atrophy, Central retinal vessel vascular tortuosity OMIM:535000
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Behr Syndrome
Optic atrophy OMIM:210000
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Absent brainstem audit... ORPHA:1215
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Cinca Syndrome
Pseudopapilledema, Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, ... ORPHA:1451
Leigh Syndrome With Leukodystrophy
Anemia, Optic atrophy, Pigmentary retinopathy ORPHA:255241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Krabbe Disease
Autoimmune thrombocytopenia, Peripheral demyelination, Optic atrophy, Decreased nerve conduction ... OMIM:245200
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Abnormal retinal morphology ORPHA:89844
Pontocerebellar Hypoplasia, Type 9
Peripheral axonal neuropathy, Optic atrophy OMIM:615809
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy OMIM:248000
Mucolipidosis Iv
Retinal degeneration, Optic atrophy OMIM:252650
Hsd10 Mitochondrial Disease
Retinal degeneration, Optic atrophy OMIM:300438
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Stt3B-Cdg
Thrombocytopenia, Optic atrophy ORPHA:370924
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Lymphatic Malformation 6
Chylothorax, Atrial septal defect, Nonimmune hydrops fetalis, Pleural effusion, Genital edema, Sh... OMIM:616843
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Optic atrophy OMIM:614877
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Decreased sensory nerve conduction velocity, Pigmentary ... OMIM:609033
Spastic Paraplegia 2, X-Linked
Optic atrophy OMIM:312920
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Optic disc pallo... ORPHA:97229
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Optic atrophy OMIM:615597
Spastic Paraplegia 85, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:619686
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Optic atrophy OMIM:258650
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy ORPHA:2185
Autosomal Recessive Progressive External Ophthalmoplegia
Optic neuritis, Sensory axonal neuropathy, Abnormal retinal morphology, Facial palsy, Optic atrophy ORPHA:254886
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Optic Pathway Glioma
Neurofibromas, Optic atrophy, Papilledema ORPHA:2086
Wildervanck Syndrome
Facial palsy, Pseudopapilledema ORPHA:3456
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Splenomegaly, Hepatomegaly, Optic atrophy OMIM:608799
Beta-Propeller Protein-Associated Neurodegeneration
Abnormal autonomic nervous system physiology, Optic atrophy ORPHA:329284
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor OMIM:615281
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Optic atrophy, Normochromic microcytic anemia OMIM:610198
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Sarcosinemia
Optic atrophy ORPHA:3129
Srd5A3-Cdg
Microcytic anemia, Rod-cone dystrophy, Optic atrophy, Optic disc hypoplasia ORPHA:324737
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Hydrops fetalis, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Cohen Syndrome
Bull's eye maculopathy, Leukopenia, Chorioretinal dystrophy, Neutropenia, Bone spicule pigmentati... OMIM:216550
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Dermoid Cysts, Familial Frontonasal
Papilledema OMIM:600679
Leukodystrophy, Hypomyelinating, 2
Facial palsy, Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy OMIM:608804
Lissencephaly 8
Optic atrophy OMIM:617255
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Optic atrophy, Motor axonal neuropathy OMIM:609541
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Abnormality of the liver, Optic atrophy ORPHA:44
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Decreased nerve conduction velocity OMIM:612674
Mitochondrial Complex I Deficiency, Nuclear Type 15
Peripheral demyelination, Optic atrophy OMIM:618237
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy, Decreased number of peripheral my... ORPHA:320406
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Facial palsy, Facial paralysis, Thrombocytopeni... OMIM:259700
Zika Virus Disease
Absent foveal reflex, Optic disc hypoplasia, Retinal pigment epithelial mottling, Abnormality of ... ORPHA:448237
Schindler Disease, Type I
Optic atrophy OMIM:609241
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal detachment, Retinal fold, Optic atrophy OMIM:152950
Infantile Refsum Disease
Facial palsy, Rod-cone dystrophy, Hepatomegaly, Optic atrophy ORPHA:772
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy OMIM:618688
Madras Motor Neuron Disease
Facial palsy, Optic atrophy ORPHA:137867
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly, Rod-cone dystrophy, ... OMIM:260920
Developmental And Epileptic Encephalopathy 48
Rod-cone dystrophy, Optic disc pallor OMIM:617276
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Anemia, Optic disc pallor OMIM:615838
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Geographic atrophy, Abnormal auditory evoked potentials, Optic disc pallor,... OMIM:619260
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy OMIM:300475
Lymphangiectasia, Pulmonary, Congenital
Chylothorax, Nonimmune hydrops fetalis, Mild postnatal growth retardation, Pleural effusion, Palp... OMIM:265300
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Optic nerve hypoplasia, Optic atrophy ORPHA:163937
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor OMIM:619328
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Facial palsy, Optic atrophy ORPHA:53
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy OMIM:222300
Joubert Syndrome 8
Pigmentary retinopathy, Prolonged neonatal jaundice, Optic disc pallor, Hepatomegaly OMIM:612291
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Splenomegaly, Hepatomegaly, Optic atrophy, Abnormality of pe... ORPHA:585
Leigh Syndrome
Pigmentary retinopathy, Hepatocellular necrosis, Optic atrophy OMIM:256000
Chromosome 19P13.13 Deletion Syndrome
Optic nerve hypoplasia, Optic atrophy OMIM:613638
Developmental And Epileptic Encephalopathy 75
Prolonged neonatal jaundice, Optic disc pallor, Optic atrophy OMIM:618437
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor ORPHA:3173
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy OMIM:618253
Leber Optic Atrophy And Dystonia
Leber optic atrophy, Optic atrophy OMIM:500001
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... OMIM:601152
Developmental And Epileptic Encephalopathy 93
Optic atrophy OMIM:618012
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Op... OMIM:259720
Developmental And Epileptic Encephalopathy 47
Optic disc pallor OMIM:617166
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Anemia... OMIM:610377
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Chorior... OMIM:617303
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic atrophy OMIM:300578
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaun... OMIM:615512
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic neuropathy, Optic atrophy OMIM:618249
Cerebral Visual Impairment
Optic nerve hypoplasia, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc rati... ORPHA:447788
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor OMIM:619170
Hyperostosis Cranialis Interna
Facial palsy, Optic atrophy OMIM:144755
Woods Syndrome
Optic atrophy OMIM:615236
Muckle-Wells Syndrome
Anemia, Splenomegaly, Hepatomegaly, Optic atrophy ORPHA:575
Spinocerebellar Ataxia 13
Optic atrophy OMIM:605259
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Optic atrophy OMIM:613559
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy ORPHA:216866
Infantile Cerebellar-Retinal Degeneration
Retinal dystrophy, Optic atrophy OMIM:614559
Spastic Paraplegia Type 2
Optic atrophy ORPHA:99015
Alpha-Mannosidosis, Adult Form
Pancytopenia, Optic disc pallor, Hepatosplenomegaly ORPHA:309288
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Prolonged neonatal jaundice, Optic disc pallor, Macular coloboma, Retinal dystrophy, Aplasia/Hypo... ORPHA:423479
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy OMIM:618233
Congenital Sialidosis Type 2
Cherry red spot of the macula, Hepatosplenomegaly, Hypoplasia of the fovea, Hepatomegaly, Yellow/... ORPHA:93400
Coach Syndrome 1
Portal hypertension, Splenomegaly, Hepatomegaly, Optic disc pallor, Intrahepatic bile duct dilata... OMIM:216360
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Prolonged neonatal jaundice, Optic atrophy OMIM:618868
Metachromatic Leukodystrophy
Peripheral demyelination, Cholecystitis, Gallbladder dysfunction, Decreased nerve conduction velo... OMIM:250100
Aica-Ribosuria Due To Atic Deficiency
Optic atrophy OMIM:608688
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Rod-cone dystrophy, Cirrhosis, Hepatic fibrosis, Optic atrophy OMIM:601539
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Abnormal erythrocyte enzyme level, Abnormality of soma... ORPHA:1187
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Decreased nerve conduction velocity, Rod-cone dystrophy, Retinal dystrophy, Optic a... OMIM:614863
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Hepatosplenomegaly, Hepatomegaly, Optic atrophy ORPHA:93399
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatomegaly, Optic atrophy OMIM:261680
Walker-Warburg Syndrome
Chorioretinal dysplasia, Abnormality of the optic nerve, Retinal detachment, Retinal dysplasia, R... ORPHA:899
Canavan Disease
Optic atrophy OMIM:271900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased hepatocellular lipid droplets, Hepatomegaly, Anemia, Pigmentary retinopathy, Optic atrophy OMIM:220110
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, ... OMIM:615688
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Anemia, Pigmentary retinopathy, Diffuse hepatic steatosis, Optic atrophy ORPHA:436271
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic neuropathy, Decreased motor nerve conduction velocity, Optic disc pallor ORPHA:101076
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Thrombocytopenia, Papilledema OMIM:618775
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Splenomegaly, Hepatomegaly, Anemia, Optic atrophy OMIM:612301
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy ORPHA:504476
Mucopolysaccharidosis, Type Ii
Hepatosplenomegaly, Abnormality of retinal pigmentation, Splenomegaly, Hepatomegaly, Papilledema OMIM:309900
Pearson Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hypoplastic spleen, Abnormality of the liver, He... ORPHA:699
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Retinal vascular proliferation, Retinal hemorrhage, Hypoplasia of the... OMIM:308300
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Pigmentary retinopathy, Rod-cone dystrophy, Abnormal erythrocyte morphology, Opti... ORPHA:96180
Cancer-Associated Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Pancreatic aden... ORPHA:71505
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:2715
Hermansky-Pudlak Syndrome 8
Optic disc pallor, Ocular albinism, Hypoplasia of the fovea OMIM:614077
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Onion bulb formation, Optic atrophy, Decreased sensory nerve conduction velocity ORPHA:320375
Dysosteosclerosis
Abnormal cranial nerve morphology, Optic atrophy ORPHA:1782
Von Hippel-Lindau Disease
Paraganglioma, Pancreatic cysts, Retinal detachment, Hypertensive retinopathy, Pancreatic endocri... ORPHA:892
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Abnormality of the optic disc, Congenital stationary night blindness ORPHA:293967
Idiopathic Anterior Uveitis
Increased cup-to-disc ratio, Macular edema ORPHA:280914
Wolfram Syndrome 2
Optic neuropathy, Optic atrophy OMIM:604928
Hyperoxaluria, Primary, Type I
Retinopathy, Optic neuropathy, Choroidal neovascularization, Retinal crystals, Optic atrophy OMIM:259900
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Acanthocytosis, Pigmentary retinopa... ORPHA:157850
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Abnormal retinal morphology, Hepatomegaly,... ORPHA:2785
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macular hypoplasia, Optic atrophy OMIM:615219
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Peripheral demyelination, Megaloblastic anemia, Jaundice, Neutropenia, Pigm... ORPHA:79282
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:485421
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:253260
Joubert Syndrome 1
Chorioretinal coloboma, Retinal dysplasia, Optic disc pallor, Retinal dystrophy, Optic disc colob... OMIM:213300
Achalasia-Addisonianism-Alacrima Syndrome
Motor axonal neuropathy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, O... OMIM:231550
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Optic atrophy, Decreased nerve conduction velocity OMIM:610651
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy OMIM:604121
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Retinal telangiectasia, Anemia, Exudative retinopathy, Thrombocytope... OMIM:612199
Temtamy Preaxial Brachydactyly Syndrome
Abnormality of the optic disc, Optic atrophy ORPHA:363417
Bardet-Biedl Syndrome 20
Papilledema, Rod-cone dystrophy, Retinal vascular tortuosity, Pancreatitis OMIM:619471
Sturge-Weber Syndrome
Abnormal retinal vascular morphology, Retinal detachment, Optic atrophy, Abnormal choroid morphology ORPHA:3205
Phace Association
Increased retinal vascularity, Optic nerve hypoplasia, Horner syndrome, Optic atrophy OMIM:606519
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinopathy, Leukemia, Chorioretinal dysplasia, Abnormality of the optic nerve, Abnormality of re... ORPHA:2526
Kenny-Caffey Syndrome, Type 2
Anemia, Retinal calcification, Papilledema OMIM:127000
Mucopolysaccharidosis Type 2
Retinopathy, Retinal degeneration, Abnormality of retinal pigmentation, Splenomegaly, Hepatomegal... ORPHA:580
Stankiewicz-Isidor Syndrome
Abnormality of the optic disc OMIM:617516
Leptospirosis
Optic neuritis, Chorioretinitis, Retinal hemorrhage, Hepatomegaly, Jaundice, Papilledema, Hepatit... ORPHA:509
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Optic atrophy OMIM:609037
Xq21 Microdeletion Syndrome
Reticular pigmentary degeneration, Chorioretinal degeneration, Abnormal chorioretinal morphology,... ORPHA:1435
Aicardi Syndrome
Chorioretinal coloboma, Hepatoblastoma, Abnormality of retinal pigmentation, Retinal detachment, ... ORPHA:50
Camurati-Engelmann Disease
Leukopenia, Optic nerve compression, Splenomegaly, Hepatomegaly, Anemia, Facial palsy, Optic atrophy ORPHA:1328
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Retinal dystrophy, Abnormality of the optic disc, Subretinal deposits ORPHA:397715
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Jaundice, Papilledema OMIM:108050
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Abnormal chorioretinal morphology, Congenital hepatic fibrosi... ORPHA:564
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Leukocytosis, Optic nerve hypoplasia, Retinal dystrophy, Optic atrophy OMIM:619321
Knobloch Syndrome 1
Vitreoretinopathy, Peripapillary atrophy, Retinal detachment, Optic disc pallor, Chorioretinal at... OMIM:267750
Primary Hyperoxaluria
Retinopathy, Optic disc pallor, Optic atrophy, Choroidal neovascularization ORPHA:416
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Papilledema, Anemia, Abnormality ... ORPHA:2072
Turcot Syndrome With Polyposis
Hyperpigmentation of the fundus, Hepatoblastoma, Abnormal macular morphology, Leukemia, Papillede... ORPHA:99818
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Optic nerve hypoplasia, Abnormality of the optic disc, Facial ... ORPHA:508498
Lymphangioleiomyomatosis
Optic atrophy, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic syst... ORPHA:538
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Retinal calcification, Papilledema ORPHA:93325
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia, Cirrhosis,... OMIM:305000
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Retinal degeneration, Optic atrophy, Acanthocytosis OMIM:234200
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Retinal vasculitis, Chorioretinal scar, Cystoid macular edema, Abnormality of ... ORPHA:91500
7Q11.23 Microduplication Syndrome
Abnormality of the optic disc ORPHA:96121
Pagod Syndrome
Abnormality of the spleen, Optic atrophy ORPHA:991
Ramon Syndrome
Pigmentary retinopathy, Optic disc pallor OMIM:266270
Pineoblastoma
Retinoblastoma, Papilledema ORPHA:251909

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 Pard3

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 Pard3.

There are 4 publications which use IMPC produced mice or data.